Incidental Mutation 'IGL01646:Sgpp2'
ID 102660
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 # IGL01646
Quality Score
Status
Chromosome 1
Chromosomal Location 78286982-78396926 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 78393533 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 179 (I179F)
Ref Sequence ENSEMBL: ENSMUSP00000036656 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036172] [ENSMUST00000170217]
AlphaFold Q810K3
Predicted Effect probably damaging
Transcript: ENSMUST00000036172
AA Change: I179F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000036656
Gene: ENSMUSG00000032908
AA Change: I179F

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
Predicted Effect probably benign
Transcript: ENSMUST00000170217
SMART Domains Protein: ENSMUSP00000129828
Gene: ENSMUSG00000026245

DomainStartEndE-ValueType
Blast:B3_4 56 95 6e-14 BLAST
B3_4 117 279 3.29e-29 SMART
B5 304 374 6.31e-17 SMART
SCOP:d1jjcb5 377 586 1e-36 SMART
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
Ambp C T 4: 63,066,977 (GRCm39) V188I probably benign Het
Bbs9 G T 9: 22,582,221 (GRCm39) E638* probably null Het
Bmp6 A G 13: 38,682,904 (GRCm39) M465V probably damaging Het
Ccdc192 T A 18: 57,800,417 (GRCm39) C171* probably null Het
Cemip T C 7: 83,632,440 (GRCm39) E374G possibly damaging Het
Cnbd1 A T 4: 18,895,141 (GRCm39) Y200* probably null Het
Cox6b1 G T 7: 30,323,929 (GRCm39) Y34* probably null Het
Cyp2d26 A C 15: 82,675,619 (GRCm39) I303M probably benign Het
Diaph1 T A 18: 38,026,469 (GRCm39) probably null Het
Dmp1 T C 5: 104,359,731 (GRCm39) S136P probably damaging Het
Dpy19l1 C T 9: 24,396,365 (GRCm39) R117Q probably damaging Het
Eea1 A G 10: 95,832,877 (GRCm39) T241A probably damaging Het
Erap1 C A 13: 74,814,291 (GRCm39) T25K probably damaging Het
Fras1 A G 5: 96,906,007 (GRCm39) E3137G probably benign Het
Fryl C T 5: 73,179,844 (GRCm39) probably null Het
Gldc T G 19: 30,078,165 (GRCm39) D944A possibly damaging Het
Grm5 A G 7: 87,689,267 (GRCm39) Y546C probably damaging Het
Igkv1-122 G A 6: 67,993,728 (GRCm39) M1I probably null Het
Jag2 G A 12: 112,879,969 (GRCm39) P380S possibly damaging Het
Kcnc2 T C 10: 112,108,311 (GRCm39) probably null Het
Kmt2a T C 9: 44,736,781 (GRCm39) probably benign Het
Lrrc55 A G 2: 85,022,333 (GRCm39) V286A probably damaging Het
Mllt10 C A 2: 18,127,128 (GRCm39) H82N probably damaging Het
Myh11 C A 16: 14,039,639 (GRCm39) R837L probably damaging Het
Nsg1 C A 5: 38,313,035 (GRCm39) D55Y probably damaging Het
Nup107 C A 10: 117,617,247 (GRCm39) R221M probably damaging Het
Nup153 G T 13: 46,837,583 (GRCm39) A1213D possibly damaging Het
Ovgp1 G A 3: 105,885,665 (GRCm39) G174S probably damaging Het
Papss2 C T 19: 32,629,482 (GRCm39) A357V probably benign Het
Pclo A G 5: 14,763,881 (GRCm39) K4118R unknown Het
Pde2a T C 7: 101,156,918 (GRCm39) I628T possibly damaging Het
Pla2r1 A G 2: 60,325,708 (GRCm39) W521R probably damaging Het
Pld1 A T 3: 28,153,813 (GRCm39) Q744L probably damaging Het
Pnpo T A 11: 96,829,775 (GRCm39) E251V possibly damaging Het
Rdh10 C T 1: 16,178,246 (GRCm39) H173Y possibly damaging Het
Slc11a1 C T 1: 74,423,899 (GRCm39) P409L probably damaging Het
Slc35b4 T A 6: 34,135,364 (GRCm39) N316I probably benign Het
Snrnp200 A G 2: 127,064,148 (GRCm39) I712V probably benign Het
Spr T C 6: 85,111,222 (GRCm39) D216G possibly damaging Het
Sri G A 5: 8,113,755 (GRCm39) probably null Het
Tas2r124 T C 6: 132,732,332 (GRCm39) S214P probably damaging Het
Tg T A 15: 66,549,936 (GRCm39) S233T probably damaging Het
Tgfbr3 A T 5: 107,269,279 (GRCm39) probably benign Het
Vmn2r45 A G 7: 8,486,337 (GRCm39) F317S probably benign Het
Vmn2r99 C A 17: 19,613,920 (GRCm39) probably benign Het
Zfp957 T C 14: 79,451,331 (GRCm39) E156G probably benign Het
Other mutations in Sgpp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00906:Sgpp2 APN 1 78,367,184 (GRCm39) missense probably benign 0.00
IGL02797:Sgpp2 APN 1 78,393,819 (GRCm39) missense probably benign
IGL03329:Sgpp2 APN 1 78,367,200 (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 2014-01-21