Incidental Mutation 'IGL03329:Sgpp2'
ID416798
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: 0.066) question?
Stock #IGL03329
Quality Score
Status
Chromosome1
Chromosomal Location78310345-78420289 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 78390563 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 111 (I111T)
Ref Sequence ENSEMBL: ENSMUSP00000036656 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036172]
Predicted Effect probably benign
Transcript: ENSMUST00000036172
AA Change: I111T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000036656
Gene: ENSMUSG00000032908
AA Change: I111T

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,298,047 D2598G probably benign Het
Abcf2 T G 5: 24,571,248 probably null Het
Acsl1 T A 8: 46,492,994 C55S possibly damaging Het
Adam22 T A 5: 8,149,210 M249L possibly damaging Het
Alk A G 17: 71,899,164 probably benign Het
Ambn T G 5: 88,461,668 S78R probably benign Het
Apbb1ip T A 2: 22,867,717 V449D possibly damaging Het
Atp13a5 A T 16: 29,334,065 Y194* probably null Het
Cacul1 A T 19: 60,543,051 F260Y probably damaging Het
Cfap46 A G 7: 139,601,165 I2640T probably damaging Het
Chd7 T C 4: 8,841,108 S1446P probably damaging Het
Clcn2 G A 16: 20,712,152 T276I probably damaging Het
Dcbld1 T G 10: 52,319,625 Y310D probably damaging Het
Dennd4c G A 4: 86,777,876 V157I probably damaging Het
Dennd5b G T 6: 148,998,260 T1213K possibly damaging Het
Dusp8 A T 7: 142,084,360 L177* probably null Het
Erbb4 T C 1: 68,328,122 S479G probably benign Het
Gpbp1 T A 13: 111,453,253 probably benign Het
Hmcn1 T A 1: 150,732,910 Q1507L probably damaging Het
Inppl1 G T 7: 101,824,380 T1021K possibly damaging Het
Klk1b9 A G 7: 43,979,414 E114G probably benign Het
Klre1 T C 6: 129,585,697 probably benign Het
Lancl1 T C 1: 67,021,050 Y72C probably damaging Het
Lexm G T 4: 106,607,404 R353S possibly damaging Het
Lilra6 A G 7: 3,914,648 probably benign Het
Magi2 T C 5: 20,466,128 V490A possibly damaging Het
Myo3b T A 2: 70,254,459 N720K probably damaging Het
Olfr1018 A C 2: 85,823,385 D138A probably benign Het
Olfr857 T C 9: 19,713,301 V158A probably benign Het
Ppp2r3a T A 9: 101,126,431 probably benign Het
Rbm47 T C 5: 66,026,693 D189G probably damaging Het
Scn2a G A 2: 65,764,629 D1941N probably benign Het
Sh3bp2 T C 5: 34,559,202 V319A probably benign Het
Slc12a3 A C 8: 94,365,891 Q980P possibly damaging Het
Slc39a8 G T 3: 135,884,713 G389V probably damaging Het
Slc5a3 T C 16: 92,077,460 I135T probably damaging Het
Smu1 A G 4: 40,739,568 V414A possibly damaging Het
Tlr12 A G 4: 128,616,852 F535S possibly damaging Het
Trim47 A G 11: 116,106,428 V501A probably damaging Het
Vmn1r16 A T 6: 57,323,618 N6K probably damaging Het
Vwce G A 19: 10,659,996 C711Y possibly damaging Het
Wdr25 C T 12: 108,898,336 L136F probably benign Het
Xpo1 A G 11: 23,284,306 Q437R probably benign Het
Zfp169 C A 13: 48,490,794 probably benign Het
Zfp607b A T 7: 27,703,870 I584F probably damaging Het
Zzef1 T A 11: 72,917,273 probably benign Het
Other mutations in Sgpp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00906:Sgpp2 APN 1 78390547 missense probably benign 0.00
IGL01646:Sgpp2 APN 1 78416896 missense probably damaging 0.98
IGL02797:Sgpp2 APN 1 78417182 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 On2016-08-02