GeneBe

SUCNR1

succinate receptor 1, the group of Succinate receptor

Basic information

Region (hg38): 3:151873643-151884619

Previous symbols: [ "GPR91" ]

Links

ENSG00000198829 ∙ NCBI:56670 ∙ OMIM:606381 ∙ HGNC:4542 ∙ Uniprot:Q9BXA5 ∙ 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 SUCNR1 gene.

  • not_specified (38 variants)
  • not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SUCNR1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000033050.6. 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
1
clinvar
 1
missense
36
clinvar
2
clinvar
 38
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 36 2 1
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
SUCNR1protein_codingprotein_codingENST00000362032 210975
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
0.0007690.7841256570841257410.000334
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.1541701760.9670.000009002203
Missense in Polyphen5865.0280.89193826
Synonymous-0.8577364.31.140.00000317664
Loss of Function1.0569.480.6336.42e-7100

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.001850.00185
Ashkenazi Jewish0.000.00
East Asian0.0004900.000489
Finnish0.000.00
European (Non-Finnish)0.0001060.000105
Middle Eastern0.0004900.000489
South Asian0.0001310.000131
Other0.0003270.000326

dbNSFP

Source: dbNSFP

Function
FUNCTION: Receptor for succinate. {ECO:0000269|PubMed:15141213}.;
Pathway
cAMP signaling pathway - Homo sapiens (human);GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (i) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

pRec
0.103

Intolerance Scores

loftool
0.752
rvis_EVS
-0.32
rvis_percentile_EVS
31.69

Haploinsufficiency Scores

pHI
0.102
hipred
N
hipred_score
0.187
ghis
0.512

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.0808

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Sucnr1
Phenotype
immune system phenotype; renal/urinary system phenotype; hematopoietic system phenotype; homeostasis/metabolism phenotype;

Gene ontology

Biological process
renin secretion into blood stream;macrophage activation involved in immune response;G protein-coupled receptor signaling pathway;biological_process;interleukin-1 beta production;glucose homeostasis;positive regulation of inflammatory response;positive regulation of chemotaxis;response to calcium ion;regulation of angiotensin metabolic process
Cellular component
plasma membrane;integral component of membrane;extracellular exosome
Molecular function
G protein-coupled receptor activity