GPR162

G protein-coupled receptor 162, the group of G protein-coupled receptors, Class A orphans

Basic information

Region (hg38): 12:6821623-6829972

Links

ENSG00000250510 ∙ NCBI:27239 ∙ ∙ HGNC:16693 ∙ Uniprot:Q16538 ∙ 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 GPR162 gene.

• Inborn genetic diseases (22 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPR162 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
missense			21			21
nonsense						0
start loss						0
frameshift					1	1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1			1
Total	0	0	22	0	2

Variants in GPR162

This is a list of pathogenic ClinVar variants found in the GPR162 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-6823903-C-T		not specified	Uncertain significance (Mar 07, 2024)
12-6823915-C-T		not specified	Uncertain significance (May 30, 2023)
12-6823938-C-A		not specified	Uncertain significance (Sep 14, 2022)
12-6823939-G-A		not specified	Likely benign (Feb 05, 2024)
12-6823971-C-T		not specified	Uncertain significance (May 30, 2023)
12-6824143-A-G		not specified	Uncertain significance (Nov 29, 2021)
12-6824256-C-T		not specified	Uncertain significance (Apr 25, 2023)
12-6824590-G-A		not specified	Uncertain significance (Nov 08, 2021)
12-6825509-C-T		not specified	Uncertain significance (Nov 02, 2021)
12-6825620-G-A		not specified	Uncertain significance (Oct 10, 2023)
12-6825667-G-C		not specified	Uncertain significance (Oct 20, 2023)
12-6826210-G-A		not specified	Uncertain significance (Feb 17, 2022)
12-6826226-G-A		not specified	Uncertain significance (Jan 31, 2024)
12-6826240-C-T		not specified	Uncertain significance (Oct 25, 2023)
12-6826690-A-T		not specified	Uncertain significance (Mar 06, 2023)
12-6826696-T-C		not specified	Uncertain significance (Sep 19, 2023)
12-6826768-C-T		not specified	Uncertain significance (Feb 05, 2024)
12-6826777-G-A		not specified	Uncertain significance (Aug 04, 2021)
12-6826830-G-A		not specified	Uncertain significance (Jul 20, 2021)
12-6826831-A-C		not specified	Uncertain significance (Oct 27, 2022)
12-6826839-G-A		not specified	Uncertain significance (Sep 22, 2022)
12-6826860-G-A		not specified	Uncertain significance (Jun 11, 2021)
12-6826867-C-T		not specified	Uncertain significance (Sep 01, 2021)
12-6826941-C-T		not specified	Uncertain significance (May 17, 2023)
12-6826945-A-C		not specified	Uncertain significance (Nov 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GPR162	protein_coding	protein_coding	ENST00000311268	4	8426

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00939	0.989	125704	0	44	125748	0.000175

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.895	330	379	0.871	0.0000244	3695
Missense in Polyphen		79	129.3	0.61097		1271
Synonymous	-2.42	199	160	1.24	0.0000101	1324
Loss of Function	2.69	7	20.0	0.351	0.00000111	199

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000120	0.000119
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.000328	0.000325
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Orphan receptor.
• Pathway: GPCRs, Other (Consensus)

Intolerance Scores

• loftool: 0.561
• rvis_EVS: -0.97
• rvis_percentile_EVS: 8.95

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.375
• ghis: 0.560

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.231

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gpr162

Gene ontology

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