GeneBe

GPR161

G protein-coupled receptor 161, the group of G protein-coupled receptors, Class A orphans

Basic information

Region (hg38): 1:168079542-168137667

Links

ENSG00000143147 ∙ NCBI:23432 ∙ OMIM:612250 ∙ HGNC:23694 ∙ Uniprot:Q8N6U8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

  • pituitary stalk interruption syndrome (Supportive), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Medulloblastoma predisposition syndromeAdOncologicThe condition can involve increased risk of medulloblastoma (and possibly other cancer types), and awareness may allow early disease detection and managementOncologic31609649

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GPR161 gene.

  • not_specified (66 variants)
  • not_provided (64 variants)
  • Medulloblastoma (11 variants)
  • GPR161-related_disorder (1 variants)
  • Predisposition_to_medulloblastoma (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPR161 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001375883.1. 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.

EffectPLPVUSLBBSum
synonymous
12
clinvar
11
clinvar
 23
missense
89
clinvar
3
clinvar
 92
nonsense
2
clinvar
 2
start loss
0
frameshift
1
clinvar
3
clinvar
 4
splice donor/acceptor (+/-2bp)
0
Total 1 0 94 15 11

Highest pathogenic variant AF is 0.00000309809

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
GPR161protein_codingprotein_codingENST00000537209 652825
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
0.0003490.9901256930551257480.000219
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.512543320.7660.00001963568
Missense in Polyphen71109.120.650661177
Synonymous-1.541611381.170.000008581146
Loss of Function2.28920.00.4500.00000104212

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0003760.000376
Ashkenazi Jewish0.00009940.0000992
East Asian0.000.00
Finnish0.00004620.0000462
European (Non-Finnish)0.0002920.000290
Middle Eastern0.000.00
South Asian0.0002640.000261
Other0.0003320.000326

dbNSFP

Source: dbNSFP

Function
FUNCTION: Key negative regulator of Shh signaling, which promotes the processing of GLI3 into GLI3R during neural tube development. Recruited by TULP3 and the IFT-A complex to primary cilia and acts as a regulator of the PKA-dependent basal repression machinery in Shh signaling by increasing cAMP levels, leading to promote the PKA-dependent processing of GLI3 into GLI3R and repress the Shh signaling. In presence of SHH, it is removed from primary cilia and is internalized into recycling endosomes, preventing its activity and allowing activation of the Shh signaling. Its ligand is unknown (By similarity). {ECO:0000250}.;
Pathway
Hedgehog signaling pathway - Homo sapiens (human);Hedgehog Signaling Pathway;GPCRs, Class A Rhodopsin-like;Signal Transduction;Hedgehog ,off, state;Signaling by Hedgehog (Consensus)

Recessive Scores

pRec
0.154

Intolerance Scores

loftool
0.584
rvis_EVS
-0.8
rvis_percentile_EVS
12.33

Haploinsufficiency Scores

pHI
0.156
hipred
Y
hipred_score
0.554
ghis
0.555

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
gene_indispensability_pred
N
gene_indispensability_score
0.0652

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Gpr161
Phenotype
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); growth/size/body region phenotype; craniofacial phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); limbs/digits/tail phenotype; pigmentation phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); embryo phenotype; vision/eye phenotype;

Zebrafish Information Network

Gene name
gpr161
Affected structure
anterior lateral plate mesoderm
Phenotype tag
abnormal
Phenotype quality
morphology

Gene ontology

Biological process
adenylate cyclase-activating G protein-coupled receptor signaling pathway;multicellular organism development;negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning
Cellular component
cilium;integral component of membrane;endocytic vesicle membrane;recycling endosome;ciliary membrane
Molecular function
G protein-coupled receptor activity