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

ENSG00000184350NCBI:116534OMIM:607232HGNC:30694Uniprot:Q86SM8AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

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
clinvar
2
missense
14
clinvar
1
clinvar
15
nonsense
1
clinvar
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)2465922
11-3227890-G-A not specified Uncertain significance (Dec 20, 2024)3874374
11-3227908-C-T not specified Uncertain significance (Jul 08, 2022)2300169
11-3227970-C-T not specified Uncertain significance (Mar 23, 2022)2388819
11-3228025-C-T not specified Uncertain significance (Jan 16, 2024)3204355
11-3228028-C-T not specified Uncertain significance (Dec 21, 2022)2379136
11-3228129-A-G not specified Uncertain significance (Dec 15, 2023)3204352
11-3228166-G-A not specified Uncertain significance (Feb 07, 2025)3874376
11-3228172-G-A not specified Uncertain significance (Mar 27, 2023)2530275
11-3228199-G-A not specified Uncertain significance (Aug 01, 2022)2369920
11-3228201-A-T not specified Uncertain significance (Sep 10, 2024)3397915
11-3228222-C-T not specified Uncertain significance (Oct 04, 2022)2401954
11-3228279-C-A not specified Uncertain significance (Dec 14, 2022)2334772
11-3228279-C-T not specified Likely benign (Dec 14, 2022)2334848
11-3228397-G-A not specified Uncertain significance (Feb 21, 2025)3874375
11-3228399-C-T not specified Uncertain significance (May 30, 2024)3295855
11-3228402-C-T not specified Uncertain significance (May 14, 2024)3295854
11-3228496-G-A not specified Uncertain significance (Nov 07, 2022)2391212
11-3228610-C-T not specified Uncertain significance (Aug 04, 2024)2295694
11-3228742-C-T not specified Uncertain significance (Jul 30, 2024)3397914
11-3228745-C-A not specified Uncertain significance (Mar 29, 2022)2340200

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
MRGPREprotein_codingprotein_codingENST00000436689 14689
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-0.2352031941.050.00001341908
Missense in Polyphen5850.7241.1434547
Synonymous-0.4069994.01.050.00000672697
Loss of Function

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
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
ghis

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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