AVPR1B

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

Basic information

Region (hg38): 1:206106935-206117699

Previous symbols: [ "AVPR3" ]

Links

ENSG00000198049 ∙ NCBI:553 ∙ OMIM:600264 ∙ HGNC:896 ∙ Uniprot:P47901 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the AVPR1B gene.

• Inborn genetic diseases (25 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AVPR1B 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				3		3
missense			22	4		26
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	22	7	0

Variants in AVPR1B

This is a list of pathogenic ClinVar variants found in the AVPR1B region.

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

Position	Type	Phenotype	Significance	ClinVar
1-206110193-A-G		not specified	Uncertain significance (Oct 17, 2023)
1-206110209-C-T		not specified	Likely benign (May 31, 2023)
1-206110260-T-C		not specified	Likely benign (Feb 26, 2024)
1-206110265-C-G		not specified	Uncertain significance (Jan 31, 2022)
1-206110319-C-T		not specified	Likely benign (Dec 19, 2022)
1-206110328-A-C		not specified	Uncertain significance (Feb 28, 2023)
1-206110330-C-A			Likely benign (Jul 20, 2018)
1-206110331-G-A		not specified	Uncertain significance (Oct 26, 2022)
1-206110340-C-T		not specified	Uncertain significance (Jun 22, 2021)
1-206110341-G-A		not specified	Uncertain significance (Jan 03, 2024)
1-206110368-G-A		not specified	Uncertain significance (Jan 31, 2023)
1-206110370-C-T		not specified	Uncertain significance (Aug 10, 2021)
1-206110422-G-A		not specified	Uncertain significance (Feb 15, 2023)
1-206110487-A-G		not specified	Uncertain significance (Aug 02, 2021)
1-206110509-C-T		not specified	Uncertain significance (Apr 07, 2022)
1-206115971-T-C		not specified	Uncertain significance (Dec 28, 2022)
1-206116043-G-T		not specified	Uncertain significance (Sep 20, 2023)
1-206116061-A-G		not specified	Uncertain significance (Feb 07, 2023)
1-206116076-A-T		not specified	Uncertain significance (Mar 08, 2024)
1-206116088-C-T		not specified	Uncertain significance (Dec 02, 2022)
1-206116113-G-A		not specified	Uncertain significance (Dec 30, 2023)
1-206116167-C-T		not specified	Likely benign (May 01, 2023)
1-206116172-C-A		not specified	Uncertain significance (Jan 16, 2024)
1-206116178-C-G		not specified	Uncertain significance (Apr 06, 2023)
1-206116302-G-A		not specified	Uncertain significance (Dec 05, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AVPR1B	protein_coding	protein_coding	ENST00000367126	2	7664

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000370	0.849	125705	0	43	125748	0.000171

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.346	287	271	1.06	0.0000172	2690
Missense in Polyphen		104	103.21	1.0077		1148
Synonymous	0.277	114	118	0.967	0.00000706	966
Loss of Function	1.28	7	11.7	0.597	5.91e-7	109

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000300	0.000298
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000552	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000169	0.000167
Middle Eastern	0.0000552	0.0000544
South Asian	0.000490	0.000490
Other	0.00	0.00

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.
• 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: 0.102

Intolerance Scores

• loftool: 0.426
• rvis_EVS: 0.64
• rvis_percentile_EVS: 84.1

Haploinsufficiency Scores

• pHI: 0.0906
• hipred: N
• hipred_score: 0.307
• ghis: 0.399

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.702

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Avpr1b
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); 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

Gene ontology

• Biological process: regulation of systemic arterial blood pressure by vasopressin;G protein-coupled receptor signaling pathway;activation of phospholipase C activity;positive regulation of cytosolic calcium ion concentration;cellular response to hormone stimulus;positive regulation of vasoconstriction
• Cellular component: endosome;plasma membrane;integral component of plasma membrane
• Molecular function: vasopressin receptor activity;protein kinase C binding