GPR132

G protein-coupled receptor 132, the group of G protein-coupled receptors, Class A orphans

Basic information

Region (hg38): 14:105049394-105065445

Links

ENSG00000183484 ∙ NCBI:29933 ∙ OMIM:606167 ∙ HGNC:17482 ∙ Uniprot:Q9UNW8 ∙ 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 GPR132 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPR132 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					3	3
missense			20	4	1	25
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	20	4	4

Variants in GPR132

This is a list of pathogenic ClinVar variants found in the GPR132 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-105051004-T-A		not specified	Uncertain significance (Jul 25, 2023)
14-105051018-C-A		not specified	Uncertain significance (Jun 21, 2022)
14-105051083-C-A			Benign (Jun 27, 2018)
14-105051101-C-T		not specified	Uncertain significance (Mar 27, 2023)
14-105051155-C-G		not specified	Likely benign (Aug 17, 2021)
14-105051163-C-A		not specified	Uncertain significance (Oct 17, 2023)
14-105051202-G-A		not specified	Uncertain significance (Dec 14, 2023)
14-105051337-G-C		not specified	Uncertain significance (Jul 20, 2021)
14-105051347-C-A		not specified	Uncertain significance (Jan 08, 2024)
14-105051347-C-T		not specified	Likely benign (Aug 16, 2021)
14-105051370-G-A		not specified	Uncertain significance (Dec 20, 2022)
14-105051408-C-T			Benign (Jun 27, 2018)
14-105051475-C-A		not specified	Uncertain significance (Sep 26, 2023)
14-105051476-G-A		not specified	Uncertain significance (Jan 27, 2022)
14-105051545-C-T		not specified	Uncertain significance (Aug 12, 2021)
14-105051551-T-A			Uncertain significance (Mar 19, 2024)
14-105051585-C-G		not specified	Uncertain significance (May 28, 2024)
14-105051586-T-A		not specified	Uncertain significance (Mar 06, 2023)
14-105051598-G-A		not specified	Likely benign (May 23, 2024)
14-105051630-G-C			Benign (Jun 27, 2018)
14-105051641-T-C		not specified	Likely benign (Jun 16, 2023)
14-105051662-C-T		not specified	Uncertain significance (Jul 14, 2021)
14-105051673-C-T		not specified	Likely benign (Apr 24, 2024)
14-105051674-G-A		not specified	Uncertain significance (Oct 17, 2023)
14-105051707-C-T		not specified	Uncertain significance (Jun 17, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GPR132	protein_coding	protein_coding	ENST00000329797	2	16055

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0170	0.728	125735	0	12	125747	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.40	188	250	0.751	0.0000175	2451
Missense in Polyphen		42	73.458	0.57176		797
Synonymous	-0.110	124	122	1.01	0.00000989	821
Loss of Function	0.735	3	4.73	0.635	2.03e-7	47

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000202	0.000202
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000188	0.0000176
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.000327	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be a receptor for oxidized free fatty acids derived from linoleic and arachidonic acids such as 9- hydroxyoctadecadienoic acid (9-HODE). Activates a G alpha protein, most likely G alpha(q). May be involved in apoptosis. Functions at the G2/M checkpoint to delay mitosis. May function as a sensor that monitors the oxidative states and mediates appropriate cellular responses such as secretion of paracrine signals and attenuation of proliferation. May mediate ths accumulation of intracellular inositol phosphates at acidic pH through proton- sensing activity. {ECO:0000269|PubMed:12586833, ECO:0000269|PubMed:19855098, ECO:0000269|PubMed:9770487}.
• Pathway: GPCRs, Other;Signaling by GPCR;Signal Transduction;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (q) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.238

Intolerance Scores

• loftool: 0.332
• rvis_EVS: -0.67
• rvis_percentile_EVS: 15.86

Haploinsufficiency Scores

• pHI: 0.120
• hipred: N
• hipred_score: 0.285
• ghis: 0.570

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.553

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gpr132
• Phenotype: growth/size/body region phenotype; cellular phenotype; hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); respiratory system phenotype; liver/biliary system phenotype; immune system phenotype; renal/urinary system phenotype

Zebrafish Information Network

• Gene name: gpr132b
• Affected structure: optic tectum
• Phenotype tag: abnormal
• Phenotype quality: decreased amount

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