GPR31

G protein-coupled receptor 31, the group of G protein-coupled receptors, Class A orphans

Basic information

Region (hg38): 6:167155247-167157980

Links

ENSG00000120436 ∙ NCBI:2853 ∙ OMIM:602043 ∙ HGNC:4486 ∙ Uniprot:O00270 ∙ 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 GPR31 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPR31 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						0
missense			26	2		28
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	26	2	0

Variants in GPR31

This is a list of pathogenic ClinVar variants found in the GPR31 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-167156886-C-T		not specified	Uncertain significance (Apr 22, 2024)
6-167156888-C-T		not specified	Likely benign (Jul 16, 2024)
6-167156921-C-T		not specified	Uncertain significance (Aug 21, 2024)
6-167156951-C-T		not specified	Uncertain significance (Dec 06, 2022)
6-167156952-G-C		not specified	Uncertain significance (Feb 05, 2025)
6-167156967-A-G		not specified	Uncertain significance (Mar 25, 2024)
6-167156994-C-T		not specified	Uncertain significance (Mar 20, 2023)
6-167157032-G-A		not specified	Uncertain significance (Nov 17, 2023)
6-167157063-G-A		not specified	Uncertain significance (May 20, 2024)
6-167157101-A-G		not specified	Uncertain significance (Jan 10, 2023)
6-167157106-T-G		not specified	Uncertain significance (Jun 13, 2024)
6-167157216-T-C		not specified	Uncertain significance (Dec 18, 2023)
6-167157225-C-T		not specified	Likely benign (Mar 05, 2025)
6-167157252-C-T		not specified	Uncertain significance (May 01, 2024)
6-167157267-G-C		not specified	Uncertain significance (Jan 25, 2024)
6-167157326-G-T		not specified	Uncertain significance (Feb 14, 2025)
6-167157335-T-C		not specified	Uncertain significance (Apr 22, 2022)
6-167157347-C-T		not specified	Uncertain significance (Dec 14, 2024)
6-167157420-C-T		not specified	Uncertain significance (Dec 06, 2024)
6-167157428-G-A		not specified	Uncertain significance (Oct 09, 2024)
6-167157445-C-A		not specified	Uncertain significance (Jan 24, 2025)
6-167157497-C-T		not specified	Uncertain significance (Jun 24, 2022)
6-167157498-G-A		not specified	Uncertain significance (Nov 12, 2024)
6-167157534-C-T		not specified	Uncertain significance (Jun 28, 2023)
6-167157581-C-T		not specified	Likely benign (Mar 15, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GPR31	protein_coding	protein_coding	ENST00000366834	1	2059

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0205	0.533	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.292	200	189	1.06	0.0000113	2025
Missense in Polyphen		60	44.824	1.3386		519
Synonymous	-1.25	105	89.9	1.17	0.00000550	735
Loss of Function	-0.243	2	1.66	1.20	7.11e-8	17

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: High-affinity receptor for 12-(S)-hydroxy-5,8,10,14- eicosatetraenoic acid (12-S-HETE). 12-(S)-HETE is an arachidonic acid metabolite secreted by platelets and tumor cells, and known to induce endothelial cells retraction allowing invasive cell access to the subendothelial matrix, which is a critical step for extravasation or metastasis. Ligand-binding lead to activation of ERK1/2 (MAPK3/MAPK1), MEK, and NF-kappa-B. {ECO:0000269|PubMed:21712392}.
• Pathway: GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;Free fatty acid receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (i) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.119

Intolerance Scores

• loftool: 0.461
• rvis_EVS: 0.49
• rvis_percentile_EVS: 79.38

Haploinsufficiency Scores

• pHI: 0.0940
• hipred: N
• hipred_score: 0.146
• ghis: 0.404

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.383

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gpr31b

Gene ontology

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