MRGPRE

MAS related GPR family member E, the group of G protein-coupled receptors, Class A orphans

Basic information

Region (hg38): 11:3225030-3232417

Previous symbols: [ "GPR167" ]

Links

ENSG00000184350 ∙ NCBI:116534 ∙ OMIM:607232 ∙ HGNC:30694 ∙ Uniprot:Q86SM8 ∙ 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 MRGPRE gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRGPRE 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			2			2
missense			14	1		15
nonsense			1			1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	1	0

Variants in MRGPRE

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

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

Position	Type	Phenotype	Significance	ClinVar
11-3227889-C-T		not specified	Uncertain significance (Mar 02, 2023)
11-3227890-G-A		not specified	Uncertain significance (Dec 20, 2024)
11-3227908-C-T		not specified	Uncertain significance (Jul 08, 2022)
11-3227970-C-T		not specified	Uncertain significance (Mar 23, 2022)
11-3228025-C-T		not specified	Uncertain significance (Jan 16, 2024)
11-3228028-C-T		not specified	Uncertain significance (Dec 21, 2022)
11-3228129-A-G		not specified	Uncertain significance (Dec 15, 2023)
11-3228166-G-A		not specified	Uncertain significance (Feb 07, 2025)
11-3228172-G-A		not specified	Uncertain significance (Mar 27, 2023)
11-3228199-G-A		not specified	Uncertain significance (Aug 01, 2022)
11-3228201-A-T		not specified	Uncertain significance (Sep 10, 2024)
11-3228222-C-T		not specified	Uncertain significance (Oct 04, 2022)
11-3228279-C-A		not specified	Uncertain significance (Dec 14, 2022)
11-3228279-C-T		not specified	Likely benign (Dec 14, 2022)
11-3228397-G-A		not specified	Uncertain significance (Feb 21, 2025)
11-3228399-C-T		not specified	Uncertain significance (May 30, 2024)
11-3228402-C-T		not specified	Uncertain significance (May 14, 2024)
11-3228496-G-A		not specified	Uncertain significance (Nov 07, 2022)
11-3228610-C-T		not specified	Uncertain significance (Aug 04, 2024)
11-3228742-C-T		not specified	Uncertain significance (Jul 30, 2024)
11-3228745-C-A		not specified	Uncertain significance (Mar 29, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MRGPRE	protein_coding	protein_coding	ENST00000436689	1	4689

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.235	203	194	1.05	0.0000134	1908
Missense in Polyphen		58	50.724	1.1434		547
Synonymous	-0.406	99	94.0	1.05	0.00000672	697
Loss of Function

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Orphan receptor. May regulate nociceptor function and/or development, including the sensation or modulation of pain.

Recessive Scores

• pRec: 0.111

Intolerance Scores

• loftool: 0.548
• rvis_EVS: 0.17
• rvis_percentile_EVS: 65.96

Haploinsufficiency Scores

• pHI: 0.0957
• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.335

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mrgpre
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan)

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