GPR182

G protein-coupled receptor 182, the group of G protein-coupled receptors, Class A orphans

Basic information

Region (hg38): 12:56994491-56998447

Previous symbols: [ "ADMR" ]

Links

ENSG00000166856 ∙ NCBI:11318 ∙ OMIM:605307 ∙ HGNC:13708 ∙ Uniprot:O15218 ∙ 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 GPR182 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPR182 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	2	3
missense			13			13
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 GPR182

This is a list of pathogenic ClinVar variants found in the GPR182 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-56995366-C-T		not specified	Uncertain significance (Aug 16, 2021)
12-56995367-G-A		not specified	Uncertain significance (Jan 05, 2022)
12-56995447-C-A		not specified	Uncertain significance (Jun 09, 2022)
12-56995459-C-T		not specified	Uncertain significance (Feb 03, 2022)
12-56995751-C-T		not specified	Uncertain significance (Jun 11, 2021)
12-56995752-G-A			Benign (Jun 21, 2018)
12-56995771-G-A		not specified	Uncertain significance (Oct 14, 2021)
12-56995807-C-T		not specified	Uncertain significance (Jan 08, 2024)
12-56995839-G-A			Benign (Jul 04, 2018)
12-56995969-C-T		not specified	Uncertain significance (Dec 07, 2021)
12-56995979-G-A		not specified	Uncertain significance (Mar 16, 2024)
12-56996005-G-A		not specified	Uncertain significance (Sep 01, 2021)
12-56996030-A-G		not specified	Uncertain significance (Apr 23, 2024)
12-56996059-C-A		not specified	Uncertain significance (Nov 18, 2023)
12-56996190-C-A		not specified	Uncertain significance (Apr 12, 2023)
12-56996223-C-T			Likely benign (Apr 01, 2023)
12-56996321-C-G		not specified	Uncertain significance (May 31, 2023)
12-56996335-C-A		not specified	Uncertain significance (Jun 02, 2023)
12-56996356-T-C		not specified	Uncertain significance (May 23, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GPR182	protein_coding	protein_coding	ENST00000300098	1	2239

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000137	0.660	125717	0	31	125748	0.000123

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.182	238	246	0.967	0.0000150	2619
Missense in Polyphen		75	78.587	0.95435		940
Synonymous	-0.686	114	105	1.09	0.00000638	883
Loss of Function	0.814	7	9.74	0.719	5.07e-7	91

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000302	0.000300
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000115	0.000114
Middle Eastern	0.000163	0.000163
South Asian	0.000163	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Orphan receptor.
• Pathway: Sympathetic Nerve Pathway (Neuroeffector Junction);Myometrial Relaxation and Contraction Pathways (Consensus)

Recessive Scores

• pRec: 0.288

Intolerance Scores

• loftool: 0.624
• rvis_EVS: -0.27
• rvis_percentile_EVS: 34.71

Haploinsufficiency Scores

• pHI: 0.111
• hipred: N
• hipred_score: 0.190
• ghis: 0.474

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.169

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gpr182
• Phenotype: hematopoietic system phenotype

Gene ontology

• Biological process: cell surface receptor signaling pathway;G protein-coupled receptor signaling pathway
• Cellular component: plasma membrane;integral component of membrane
• Molecular function: transmembrane signaling receptor activity;G protein-coupled receptor activity