|Institutional Source||Beutler Lab|
|Gene Name||succinate receptor 1|
|Is this an essential gene?||Probably non essential (E-score: 0.067)|
|Stock #||R4110 (G1)|
|Chromosomal Location||60081869-60087566 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to G at 60086794 bp|
|Amino Acid Change||Arginine to Glycine at position 248 (R248G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029326 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029326]|
|Predicted Effect||probably damaging
AA Change: R248G
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: R248G
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.392|
|Coding Region Coverage||
|Validation Efficiency||100% (61/61)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a G-protein-coupled receptor for succinate, an intermediate molecule of the citric acid cycle. It is involved in the promotion of hematopoietic progenitor cell development, and it has a potential role in renovascular hypertension which has known correlations to renal failure, diabetes and atherosclerosis. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knockout allele exhibit decreased renin plasma and kidney levels upon high-glucose stimulation in a diabetic or non-diabetic model. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sucnr1||
(F):5'- ATTTACAGCCTCTGCCTGAC -3'
(R):5'- CAGCAGCTCATGTCCTGAAG -3'
(F):5'- GACTTTGTTGGGCTTCCTAATTC -3'
(R):5'- AGGGACTTGAAGTATTGTCTGAAC -3'