AVPR1A

arginine vasopressin receptor 1A, the group of Arginine vasopressin and oxytocin receptors

Basic information

Region (hg38): 12:63142758-63151201

Previous symbols: [ "AVPR1" ]

Links

ENSG00000166148 ∙ NCBI:552 ∙ OMIM:600821 ∙ HGNC:895 ∙ Uniprot:P37288 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• autism spectrum disorder (Disputed Evidence), mode of inheritance: Unknown

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the AVPR1A gene.

• Inborn genetic diseases (12 variants)
• not provided (3 variants)
• AVPR1A-related condition (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AVPR1A gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1	1	2
missense			13		1	14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	1	2

Variants in AVPR1A

This is a list of pathogenic ClinVar variants found in the AVPR1A region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
12-63147363-G-A		not specified	Uncertain significance (Jan 24, 2024)
12-63147402-G-C		not specified	Uncertain significance (Jan 24, 2024)
12-63147571-T-C		not specified	Uncertain significance (Jun 05, 2023)
12-63149913-G-T			Benign (Apr 06, 2018)
12-63149975-G-A		not specified	Uncertain significance (Oct 27, 2023)
12-63150049-C-A		not specified	Uncertain significance (Jan 31, 2024)
12-63150064-C-T		not specified	Uncertain significance (Jun 27, 2022)
12-63150082-G-A		not specified	Uncertain significance (Aug 02, 2021)
12-63150084-C-G			Benign (Apr 20, 2018)
12-63150110-T-A		AVPR1A-related disorder	Uncertain significance (May 23, 2023)
12-63150157-G-T		not specified	Uncertain significance (Dec 12, 2022)
12-63150251-T-C		not specified	Uncertain significance (Dec 20, 2023)
12-63150260-C-G		not specified	Uncertain significance (Nov 01, 2022)
12-63150260-C-T		not specified	Uncertain significance (Nov 07, 2023)
12-63150429-A-G		AVPR1A-related disorder	Benign (Feb 22, 2022)
12-63150581-T-C		not specified	Uncertain significance (Feb 11, 2022)
12-63150588-C-T			Likely benign (Jun 06, 2018)
12-63150589-G-A		not specified	Uncertain significance (Mar 04, 2024)
12-63150596-G-C		not specified	Uncertain significance (Mar 29, 2022)
12-63150644-C-T		not specified	Uncertain significance (Mar 29, 2022)
12-63150700-C-A		not specified	Uncertain significance (Mar 22, 2023)
12-63150704-C-A		not specified	Uncertain significance (Sep 12, 2023)
12-63150716-G-C		not specified	Uncertain significance (Sep 14, 2023)
12-63150720-G-C		not specified	Uncertain significance (Sep 06, 2022)
12-63150783-C-G		not specified	Uncertain significance (Oct 13, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AVPR1A	protein_coding	protein_coding	ENST00000299178	2	5709

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.90e-7	0.479	125579	0	169	125748	0.000672

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0135	242	241	1.00	0.0000121	2733
Missense in Polyphen		65	69.705	0.9325		861
Synonymous	-0.670	109	100	1.08	0.00000554	850
Loss of Function	0.762	11	14.1	0.781	6.89e-7	131

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000516	0.000514
Ashkenazi Jewish	0.00	0.00
East Asian	0.00691	0.00693
Finnish	0.0000831	0.0000462
European (Non-Finnish)	0.000168	0.000167
Middle Eastern	0.00691	0.00693
South Asian	0.000262	0.000261
Other	0.000490	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate a phosphatidyl- inositol-calcium second messenger system. Has been involved in social behaviors, including affiliation and attachment. {ECO:0000269|PubMed:12082568}.
• Pathway: Calcium signaling pathway - Homo sapiens (human);Vascular smooth muscle contraction - Homo sapiens (human);Phospholipase D signaling pathway - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);Peptide GPCRs;GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;Vasopressin-like receptors;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (q) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.165

Intolerance Scores

• loftool: 0.725
• rvis_EVS: -0.25
• rvis_percentile_EVS: 35.99

Haploinsufficiency Scores

• pHI: 0.112
• hipred: N
• hipred_score: 0.389
• ghis: 0.493

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.565

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Avpr1a
• Phenotype: cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; normal phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); immune system phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); endocrine/exocrine gland phenotype; homeostasis/metabolism phenotype; muscle phenotype

Gene ontology

• Biological process: regulation of systemic arterial blood pressure by vasopressin;maternal aggressive behavior;positive regulation of systemic arterial blood pressure;generation of precursor metabolites and energy;G protein-coupled receptor signaling pathway;activation of phospholipase C activity;positive regulation of cytosolic calcium ion concentration;negative regulation of female receptivity;grooming behavior;blood circulation;positive regulation of cell population proliferation;positive regulation of heart rate;positive regulation of glutamate secretion;myotube differentiation;calcium-mediated signaling;telencephalon development;positive regulation of cell growth;positive regulation of prostaglandin biosynthetic process;positive regulation of cellular pH reduction;cellular response to hormone stimulus;social behavior;positive regulation of renal sodium excretion;cellular response to water deprivation;maternal behavior;sperm ejaculation;penile erection;positive regulation of vasoconstriction;response to corticosterone;negative regulation of transmission of nerve impulse
• Cellular component: endosome;plasma membrane;integral component of plasma membrane
• Molecular function: vasopressin receptor activity;protein kinase C binding;protein binding;peptide hormone binding;V1A vasopressin receptor binding