|Institutional Source||Beutler Lab|
|Gene Name||sphingosine-1-phosphate phosphotase 2|
|Is this an essential gene?||Probably non essential (E-score: 0.066)|
|Stock #||R2056 (G1)|
|Chromosomal Location||78310345-78420289 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 78416951 bp|
|Amino Acid Change||Leucine to Glutamine at position 197 (L197Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000036656 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000036172] [ENSMUST00000170217]|
|Predicted Effect||probably damaging
AA Change: L197Q
PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
AA Change: L197Q
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.2362|
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transmembrane protein that degrades the bioactive signaling molecule sphingosine 1-phosphate. The encoded protein is induced during inflammatory responses and has been shown to be downregulated by the microRNA-31 tumor suppressor. Alternative splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased pancreatic beta cell endoplasmic reticulum stress under basal conditions and decreased adaptive beta cell proliferation in response to treatment with either a high-fat diet or the beta cell-specific toxin, streptozotocin. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sgpp2||
(F):5'- AGAGTATGTGACACCATAGCATG -3'
(R):5'- GCTGGAAGAAATGGTTGATCC -3'
(F):5'- GCATGGTGACTATGTATAGTATTTCC -3'
(R):5'- TGGTTGATCCAGAATCCCAGG -3'