Incidental Mutation 'IGL00906:Sgpp2'
ID26610
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sgpp2
Ensembl Gene ENSMUSG00000032908
Gene Namesphingosine-1-phosphate phosphotase 2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock #IGL00906
Quality Score
Status
Chromosome1
Chromosomal Location78310345-78420289 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 78390547 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 106 (R106G)
Ref Sequence ENSEMBL: ENSMUSP00000036656 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036172]
Predicted Effect probably benign
Transcript: ENSMUST00000036172
AA Change: R106G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000036656
Gene: ENSMUSG00000032908
AA Change: R106G

DomainStartEndE-ValueType
acidPPc 74 188 7.56e-5 SMART
transmembrane domain 234 256 N/A INTRINSIC
transmembrane domain 271 293 N/A INTRINSIC
transmembrane domain 330 352 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs A G 5: 125,503,274 E221G probably benign Het
Alb A G 5: 90,472,073 N453S probably benign Het
Bckdha C T 7: 25,633,342 V183M probably benign Het
Brpf3 A G 17: 28,836,700 probably benign Het
Ccdc163 T C 4: 116,710,290 probably null Het
Ccdc178 A T 18: 22,135,168 C87* probably null Het
Clca4a A G 3: 144,954,939 V708A probably damaging Het
Cyfip2 A G 11: 46,200,685 V1136A possibly damaging Het
Dnah11 A C 12: 117,911,202 L3976R probably damaging Het
Erich1 A G 8: 14,033,770 probably benign Het
Fam228a A T 12: 4,732,773 Y107N possibly damaging Het
Gm4788 A T 1: 139,731,574 V739E probably damaging Het
Iars2 A T 1: 185,296,403 probably benign Het
Ifi204 A G 1: 173,759,631 probably benign Het
Ifih1 A T 2: 62,645,824 I36N probably benign Het
Jak1 C T 4: 101,154,629 G1092D probably damaging Het
Kir3dl2 G A X: 136,456,348 P122S probably damaging Het
Nacc2 T C 2: 26,061,666 T386A probably damaging Het
Nrf1 C T 6: 30,098,478 T135M probably damaging Het
Olfr641 G A 7: 104,039,844 G16D probably damaging Het
Olfr727 A G 14: 50,126,757 Y60C probably damaging Het
Pcca A C 14: 122,690,133 D436A probably benign Het
Pcdhb11 A T 18: 37,422,121 Q168L possibly damaging Het
Pdgfra A G 5: 75,180,173 I598V probably benign Het
Pla2g6 C T 15: 79,287,747 V637I probably damaging Het
Plac1 A C X: 53,070,716 V39G probably damaging Het
Pparg A G 6: 115,439,861 E5G probably damaging Het
Ppp1r9a A G 6: 5,157,023 D967G possibly damaging Het
Rel T C 11: 23,744,266 T322A probably benign Het
Sgk3 A G 1: 9,877,245 T137A probably benign Het
Slc27a5 T A 7: 12,991,057 M459L probably benign Het
Snx21 T C 2: 164,786,220 L52P probably damaging Het
Srarp G A 4: 141,433,273 T83M probably benign Het
Sstr2 A G 11: 113,624,995 R247G probably benign Het
Tnpo3 G A 6: 29,589,048 S101L probably damaging Het
Zan A G 5: 137,389,360 I4863T unknown Het
Other mutations in Sgpp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01646:Sgpp2 APN 1 78416896 missense probably damaging 0.98
IGL02797:Sgpp2 APN 1 78417182 missense probably benign
IGL03329:Sgpp2 APN 1 78390563 missense probably benign
R2024:Sgpp2 UTSW 1 78417220 missense probably benign 0.06
R2056:Sgpp2 UTSW 1 78416951 missense probably damaging 0.99
R2059:Sgpp2 UTSW 1 78416951 missense probably damaging 0.99
R2309:Sgpp2 UTSW 1 78417349 missense probably damaging 0.99
R2570:Sgpp2 UTSW 1 78360150 missense possibly damaging 0.80
R5342:Sgpp2 UTSW 1 78360188 missense probably benign 0.00
R6209:Sgpp2 UTSW 1 78390482 missense probably damaging 1.00
R6645:Sgpp2 UTSW 1 78360162 missense probably damaging 1.00
R8186:Sgpp2 UTSW 1 78416972 missense probably benign 0.00
Z1176:Sgpp2 UTSW 1 78417365 missense possibly damaging 0.91
Posted On2013-04-17