GPR146

G protein-coupled receptor 146, the group of G protein-coupled receptors, Class A orphans

Basic information

Region (hg38): 7:1044545-1059261

Links

ENSG00000164849 ∙ NCBI:115330 ∙ ∙ HGNC:21718 ∙ Uniprot:Q96CH1 ∙ 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 GPR146 gene.

• not provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPR146 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				2		2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	3	2

Variants in GPR146

This is a list of pathogenic ClinVar variants found in the GPR146 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-1057638-C-T			Benign (Mar 29, 2018)
7-1057737-G-C			Likely benign (Oct 01, 2022)
7-1057919-G-A			Likely benign (Oct 01, 2022)
7-1057959-C-T			Benign (Mar 29, 2018)
7-1058177-A-G			Likely benign (Feb 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GPR146	protein_coding	protein_coding	ENST00000397095	1	14686

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.149	0.784	125061	0	11	125072	0.0000440

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.418	244	226	1.08	0.0000159	2091
Missense in Polyphen		102	91.282	1.1174		860
Synonymous	-1.50	137	116	1.18	0.00000897	758
Loss of Function	1.50	2	5.93	0.337	2.55e-7	58

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000134	0.000123
Ashkenazi Jewish	0.00	0.00
East Asian	0.000272	0.000272
Finnish	0.00	0.00
European (Non-Finnish)	0.0000542	0.0000353
Middle Eastern	0.000272	0.000272
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Orphan receptor.

Recessive Scores

• pRec: 0.114

Intolerance Scores

• loftool: 0.630
• rvis_EVS: -0.06
• rvis_percentile_EVS: 48.84

Haploinsufficiency Scores

• pHI: 0.152
• hipred: N
• hipred_score: 0.256
• ghis: 0.477

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.248

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gpr146

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