Incidental Mutation 'IGL03329:Sgpp2'
ID 416798
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sgpp2
Ensembl Gene ENSMUSG00000032908
Gene Name sphingosine-1-phosphate phosphatase 2
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # IGL03329
Quality Score
Status
Chromosome 1
Chromosomal Location 78286982-78396926 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78367200 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 111 (I111T)
Ref Sequence ENSEMBL: ENSMUSP00000036656 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036172]
AlphaFold Q810K3
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: 9,248,047 (GRCm39) D2598G probably benign Het
Abcf2 T G 5: 24,776,246 (GRCm39) probably null Het
Acsl1 T A 8: 46,946,031 (GRCm39) C55S possibly damaging Het
Adam22 T A 5: 8,199,210 (GRCm39) M249L possibly damaging Het
Alk A G 17: 72,206,159 (GRCm39) probably benign Het
Ambn T G 5: 88,609,527 (GRCm39) S78R probably benign Het
Apbb1ip T A 2: 22,757,729 (GRCm39) V449D possibly damaging Het
Atp13a5 A T 16: 29,152,883 (GRCm39) Y194* probably null Het
Cacul1 A T 19: 60,531,489 (GRCm39) F260Y probably damaging Het
Cfap46 A G 7: 139,181,081 (GRCm39) I2640T probably damaging Het
Chd7 T C 4: 8,841,108 (GRCm39) S1446P probably damaging Het
Cimap2 G T 4: 106,464,601 (GRCm39) R353S possibly damaging Het
Clcn2 G A 16: 20,530,902 (GRCm39) T276I probably damaging Het
Dcbld1 T G 10: 52,195,721 (GRCm39) Y310D probably damaging Het
Dennd4c G A 4: 86,696,113 (GRCm39) V157I probably damaging Het
Dennd5b G T 6: 148,899,758 (GRCm39) T1213K possibly damaging Het
Dusp8 A T 7: 141,638,097 (GRCm39) L177* probably null Het
Erbb4 T C 1: 68,367,281 (GRCm39) S479G probably benign Het
Gpbp1 T A 13: 111,589,787 (GRCm39) probably benign Het
Hmcn1 T A 1: 150,608,661 (GRCm39) Q1507L probably damaging Het
Inppl1 G T 7: 101,473,587 (GRCm39) T1021K possibly damaging Het
Klk1b9 A G 7: 43,628,838 (GRCm39) E114G probably benign Het
Klre1 T C 6: 129,562,660 (GRCm39) probably benign Het
Lancl1 T C 1: 67,060,209 (GRCm39) Y72C probably damaging Het
Lilra6 A G 7: 3,917,647 (GRCm39) probably benign Het
Magi2 T C 5: 20,671,126 (GRCm39) V490A possibly damaging Het
Myo3b T A 2: 70,084,803 (GRCm39) N720K probably damaging Het
Or2ah1 A C 2: 85,653,729 (GRCm39) D138A probably benign Het
Or7e166 T C 9: 19,624,597 (GRCm39) V158A probably benign Het
Ppp2r3d T A 9: 101,003,630 (GRCm39) probably benign Het
Rbm47 T C 5: 66,184,036 (GRCm39) D189G probably damaging Het
Scn2a G A 2: 65,594,973 (GRCm39) D1941N probably benign Het
Sh3bp2 T C 5: 34,716,546 (GRCm39) V319A probably benign Het
Slc12a3 A C 8: 95,092,519 (GRCm39) Q980P possibly damaging Het
Slc39a8 G T 3: 135,590,474 (GRCm39) G389V probably damaging Het
Slc5a3 T C 16: 91,874,348 (GRCm39) I135T probably damaging Het
Smu1 A G 4: 40,739,568 (GRCm39) V414A possibly damaging Het
Tlr12 A G 4: 128,510,645 (GRCm39) F535S possibly damaging Het
Trim47 A G 11: 115,997,254 (GRCm39) V501A probably damaging Het
Vmn1r16 A T 6: 57,300,603 (GRCm39) N6K probably damaging Het
Vwce G A 19: 10,637,360 (GRCm39) C711Y possibly damaging Het
Wdr25 C T 12: 108,864,262 (GRCm39) L136F probably benign Het
Xpo1 A G 11: 23,234,306 (GRCm39) Q437R probably benign Het
Zfp169 C A 13: 48,644,270 (GRCm39) probably benign Het
Zfp607b A T 7: 27,403,295 (GRCm39) I584F probably damaging Het
Zzef1 T A 11: 72,808,099 (GRCm39) probably benign Het
Other mutations in Sgpp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00906:Sgpp2 APN 1 78,367,184 (GRCm39) missense probably benign 0.00
IGL01646:Sgpp2 APN 1 78,393,533 (GRCm39) missense probably damaging 0.98
IGL02797:Sgpp2 APN 1 78,393,819 (GRCm39) missense probably benign
R2024:Sgpp2 UTSW 1 78,393,857 (GRCm39) missense probably benign 0.06
R2056:Sgpp2 UTSW 1 78,393,588 (GRCm39) missense probably damaging 0.99
R2059:Sgpp2 UTSW 1 78,393,588 (GRCm39) missense probably damaging 0.99
R2309:Sgpp2 UTSW 1 78,393,986 (GRCm39) missense probably damaging 0.99
R2570:Sgpp2 UTSW 1 78,336,787 (GRCm39) missense possibly damaging 0.80
R5342:Sgpp2 UTSW 1 78,336,825 (GRCm39) missense probably benign 0.00
R6209:Sgpp2 UTSW 1 78,367,119 (GRCm39) missense probably damaging 1.00
R6645:Sgpp2 UTSW 1 78,336,799 (GRCm39) missense probably damaging 1.00
R8186:Sgpp2 UTSW 1 78,393,609 (GRCm39) missense probably benign 0.00
R9360:Sgpp2 UTSW 1 78,367,143 (GRCm39) missense probably damaging 0.97
R9709:Sgpp2 UTSW 1 78,367,200 (GRCm39) missense probably benign
Z1176:Sgpp2 UTSW 1 78,394,002 (GRCm39) missense possibly damaging 0.91
Posted On 2016-08-02