GPR171

G protein-coupled receptor 171, the group of G protein-coupled receptors, Class A orphans

Basic information

Region (hg38): 3:151197832-151203216

Links

ENSG00000174946 ∙ NCBI:29909 ∙ OMIM:618925 ∙ HGNC:30057 ∙ Uniprot:O14626 ∙ 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 GPR171 gene.

• not_specified (31 variants)
• not_provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPR171 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000013308.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2	1	3
missense			30	2		32
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	30	4	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GPR171	protein_coding	protein_coding	ENST00000309180	1	5370

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000170	0.706	125714	0	14	125728	0.0000557

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.20	127	171	0.742	0.00000862	2094
Missense in Polyphen		39	65.678	0.5938		822
Synonymous	-0.375	68	64.2	1.06	0.00000347	617
Loss of Function	0.912	7	10.1	0.691	6.64e-7	118

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000578	0.0000578
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.000139	0.000139
European (Non-Finnish)	0.0000530	0.0000528
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.000329	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Orphan receptor.
• Pathway: GPCRs, Class A Rhodopsin-like (Consensus)

Intolerance Scores

• loftool: 0.460
• rvis_EVS: -0.21
• rvis_percentile_EVS: 38.58

Haploinsufficiency Scores

• pHI: 0.262
• hipred: N
• hipred_score: 0.350
• ghis: 0.500

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.306

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gpr171

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;G protein-coupled purinergic nucleotide receptor signaling pathway;negative regulation of myeloid cell differentiation
• Cellular component: plasma membrane;integral component of membrane
• Molecular function: G protein-coupled receptor activity;G protein-coupled purinergic nucleotide receptor activity