MLNR

motilin receptor, the group of Peptide receptors

Basic information

Region (hg38): 13:49220338-49222377

Previous symbols: [ "GPR38" ]

Links

ENSG00000102539NCBI:2862OMIM:602885HGNC:4495Uniprot:O43193AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MLNR gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MLNR 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
1
clinvar
1
missense
37
clinvar
1
clinvar
38
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 37 2 0

Variants in MLNR

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

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

Position Type Phenotype Significance ClinVar
13-49220341-G-T not specified Uncertain significance (Dec 16, 2021)2267655
13-49220356-G-C not specified Uncertain significance (Aug 02, 2022)2304749
13-49220360-G-T not specified Uncertain significance (Oct 04, 2024)3396860
13-49220381-G-C not specified Uncertain significance (Mar 25, 2024)3295201
13-49220386-C-T not specified Uncertain significance (Jun 06, 2023)2557727
13-49220416-G-C not specified Uncertain significance (Apr 08, 2024)3295202
13-49220429-C-T not specified Uncertain significance (Oct 25, 2023)3209325
13-49220536-C-T not specified Uncertain significance (Mar 14, 2023)2496418
13-49220593-C-T not specified Uncertain significance (Sep 12, 2023)2622520
13-49220605-G-C not specified Uncertain significance (Dec 21, 2022)2404633
13-49220641-C-T not specified Uncertain significance (Oct 22, 2021)2363244
13-49220644-C-T not specified Uncertain significance (Jul 25, 2023)2614362
13-49220671-C-G not specified Uncertain significance (Jul 12, 2023)2590823
13-49220705-A-C not specified Uncertain significance (Jan 18, 2023)2476470
13-49220743-C-A not specified Uncertain significance (Dec 27, 2023)3208907
13-49220744-G-T not specified Uncertain significance (Apr 09, 2024)3295203
13-49220761-C-T not specified Uncertain significance (Jan 22, 2024)3208939
13-49220770-C-A not specified Uncertain significance (Dec 07, 2024)3396858
13-49220899-G-A not specified Uncertain significance (Sep 25, 2023)3209005
13-49220900-T-C not specified Uncertain significance (Sep 25, 2023)3209031
13-49220941-C-T not specified Uncertain significance (Dec 07, 2021)2265334
13-49220948-C-G not specified Uncertain significance (May 23, 2023)2550120
13-49221004-G-C not specified Uncertain significance (Dec 06, 2022)2333237
13-49221023-C-T not specified Uncertain significance (Jan 17, 2024)3209132
13-49221032-G-C not specified Uncertain significance (Oct 26, 2021)2257308

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
MLNRprotein_codingprotein_codingENST00000218721 22040
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.01270.8671254840221255060.0000876
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.6182032290.8850.00001202526
Missense in Polyphen7980.3880.98274926
Synonymous0.5741051130.9310.00000654947
Loss of Function1.2847.890.5073.48e-782

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0002690.000269
Ashkenazi Jewish0.0001030.0000992
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.00009930.0000883
Middle Eastern0.000.00
South Asian0.00003400.0000327
Other0.0003460.000326

dbNSFP

Source: dbNSFP

Function
FUNCTION: Receptor for motilin. {ECO:0000269|PubMed:11322507}.;
Pathway
Neuroactive ligand-receptor interaction - Homo sapiens (human);GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (q) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

pRec
0.113

Haploinsufficiency Scores

pHI
0.192
hipred
N
hipred_score
0.465
ghis
0.433

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.441

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Gene ontology

Biological process
G protein-coupled receptor signaling pathway
Cellular component
plasma membrane;integral component of membrane
Molecular function
G protein-coupled peptide receptor activity;hormone binding