GPR142

G protein-coupled receptor 142, the group of G protein-coupled receptors, Class A orphans

Basic information

Region (hg38): 17:74367458-74372600

Links

ENSG00000257008 ∙ NCBI:350383 ∙ OMIM:609046 ∙ HGNC:20088 ∙ Uniprot:Q7Z601 ∙ 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 GPR142 gene.

• not_specified (69 variants)
• not_provided (9 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPR142 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001331076.1. 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	3	1	6
missense			62	7	1	70
nonsense						0
start loss						0
frameshift				1		1
splice donor/acceptor (+/-2bp)						0
Total	0	0	64	11	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GPR142	protein_coding	protein_coding	ENST00000335666	4	5216

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.88e-10	0.0665	125169	2	576	125747	0.00230

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0875	283	287	0.985	0.0000178	2916
Missense in Polyphen		93	86.69	1.0728		956
Synonymous	0.952	110	123	0.891	0.00000779	1007
Loss of Function	0.0131	15	15.1	0.996	8.23e-7	145

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00164	0.00163
Ashkenazi Jewish	0.000416	0.000397
East Asian	0.000762	0.000761
Finnish	0.000758	0.000739
European (Non-Finnish)	0.00445	0.00434
Middle Eastern	0.000762	0.000761
South Asian	0.000361	0.000327
Other	0.000835	0.000815

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Orphan receptor.

Intolerance Scores

• loftool: 0.819
• rvis_EVS: -0.21
• rvis_percentile_EVS: 37.74

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gpr142

Gene ontology

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