Incidental Mutation 'R5342:Sgpp2'
ID 422366
Institutional Source Beutler Lab
Gene Symbol Sgpp2
Ensembl Gene ENSMUSG00000032908
Gene Name sphingosine-1-phosphate phosphatase 2
Synonyms
MMRRC Submission 042921-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R5342 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 78286982-78396926 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78336825 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 68 (I68V)
Ref Sequence ENSEMBL: ENSMUSP00000036656 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036172]
AlphaFold Q810K3
Predicted Effect probably benign
Transcript: ENSMUST00000036172
AA Change: I68V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000036656
Gene: ENSMUSG00000032908
AA Change: I68V

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
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.1%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrb3 A C 8: 27,716,809 (GRCm39) Y392* probably null Het
Arap1 G A 7: 101,054,167 (GRCm39) E1330K probably benign Het
Atg2b G T 12: 105,625,175 (GRCm39) D600E possibly damaging Het
Atp1b2 C T 11: 69,493,654 (GRCm39) V142I probably damaging Het
AW551984 A T 9: 39,505,847 (GRCm39) M450K probably damaging Het
Bcar3 A G 3: 122,220,298 (GRCm39) D65G probably damaging Het
Ccnt2 T C 1: 127,719,470 (GRCm39) silent Het
Cdca7l A G 12: 117,840,768 (GRCm39) Y430C probably damaging Het
Ces4a A G 8: 105,872,775 (GRCm39) T343A probably benign Het
Clec2g C T 6: 128,925,714 (GRCm39) A41V probably benign Het
Crybg3 A T 16: 59,342,512 (GRCm39) Y2708N probably damaging Het
Cspg4b T C 13: 113,502,803 (GRCm39) probably null Het
Dmxl1 A T 18: 50,084,302 (GRCm39) E2758V probably damaging Het
Eci2 C T 13: 35,162,707 (GRCm39) E283K probably benign Het
Edrf1 T A 7: 133,253,639 (GRCm39) probably null Het
Eif3b T C 5: 140,411,035 (GRCm39) L162P probably damaging Het
Ercc3 A G 18: 32,378,648 (GRCm39) I210V probably benign Het
Exoc1 A G 5: 76,714,861 (GRCm39) N739S probably damaging Het
Gm7334 A G 17: 51,005,782 (GRCm39) K23E probably benign Het
Gm7356 T G 17: 14,221,360 (GRCm39) D223A possibly damaging Het
Klhl26 A G 8: 70,908,215 (GRCm39) L47P probably damaging Het
Klhl42 C T 6: 146,993,784 (GRCm39) T252I possibly damaging Het
Morc1 G T 16: 48,438,872 (GRCm39) G756W probably damaging Het
Mroh2b G T 15: 4,943,615 (GRCm39) E384* probably null Het
Nol10 G A 12: 17,419,621 (GRCm39) probably null Het
Nxpe5 T C 5: 138,237,503 (GRCm39) L9P probably damaging Het
Or2r3 A G 6: 42,448,836 (GRCm39) I92T probably damaging Het
Or52z12 C T 7: 103,234,035 (GRCm39) R269C probably benign Het
Or7e166 A G 9: 19,624,333 (GRCm39) D70G probably damaging Het
Pak2 T C 16: 31,863,306 (GRCm39) E94G probably damaging Het
Pcdha7 A G 18: 37,107,724 (GRCm39) K250E possibly damaging Het
Pde8b T C 13: 95,178,498 (GRCm39) T541A probably damaging Het
Peg3 A T 7: 6,712,969 (GRCm39) I751N probably damaging Het
Prpsap2 T C 11: 61,622,396 (GRCm39) D269G probably damaging Het
Raver2 C A 4: 100,959,889 (GRCm39) T123K possibly damaging Het
Rpgrip1 G A 14: 52,382,666 (GRCm39) D600N possibly damaging Het
Scn2b A G 9: 45,036,816 (GRCm39) Y108C probably damaging Het
Sdr16c6 T C 4: 4,069,923 (GRCm39) E139G probably damaging Het
Sorbs2 T A 8: 46,249,050 (GRCm39) I687N probably damaging Het
Sorcs3 G A 19: 48,784,911 (GRCm39) probably null Het
Stk16 T A 1: 75,189,609 (GRCm39) C174S probably benign Het
Styxl2 T C 1: 165,937,819 (GRCm39) E80G probably benign Het
Ttll9 C A 2: 152,833,572 (GRCm39) N198K possibly damaging Het
Unc13c A T 9: 73,838,105 (GRCm39) D915E probably benign Het
Unc5b T A 10: 60,614,046 (GRCm39) K268* probably null Het
Vim T A 2: 13,584,824 (GRCm39) probably null Het
Xirp2 T A 2: 67,343,805 (GRCm39) N2015K probably damaging Het
Zfp160 T G 17: 21,240,995 (GRCm39) M21R possibly damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- AGTCAGGAGGATGCAGCATC -3'
(R):5'- CCATGAAGTCACAGGTTGGTCTG -3'

Sequencing Primer
(F):5'- AGCATCCTGGTGATAAGTTTGG -3'
(R):5'- CCTTAGATGTGTCTGCAATC -3'
Posted On 2016-08-04