Incidental Mutation 'R2098:Sgpp1'
ID230389
Institutional Source Beutler Lab
Gene Symbol Sgpp1
Ensembl Gene ENSMUSG00000021054
Gene Namesphingosine-1-phosphate phosphatase 1
SynonymsSPP1, mSPP1, SPP
MMRRC Submission 040102-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.129) question?
Stock #R2098 (G1)
Quality Score225
Status Not validated
Chromosome12
Chromosomal Location75714249-75735729 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 75716510 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Alanine at position 299 (D299A)
Ref Sequence ENSEMBL: ENSMUSP00000021450 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021450] [ENSMUST00000220285]
Predicted Effect probably damaging
Transcript: ENSMUST00000021450
AA Change: D299A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021450
Gene: ENSMUSG00000021054
AA Change: D299A

DomainStartEndE-ValueType
low complexity region 47 63 N/A INTRINSIC
acidPPc 150 264 1.5e-8 SMART
transmembrane domain 279 298 N/A INTRINSIC
transmembrane domain 346 368 N/A INTRINSIC
transmembrane domain 407 429 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000220285
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sphingosine-1-phosphate (S1P) is a bioactive sphingolipid metabolite that regulates diverse biologic processes. SGPP1 catalyzes the degradation of S1P via salvage and recycling of sphingosine into long-chain ceramides (Mandala et al., 2000 [PubMed 10859351]; Le Stunff et al., 2007 [PubMed 17895250]).[supplied by OMIM, Jun 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal keratinocyte differentiation and epidermal homeostasis with postnatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 110,036,579 E1316G probably damaging Het
Arhgap32 C A 9: 32,259,911 T1329K probably damaging Het
Arhgef10l G C 4: 140,579,432 L104V probably damaging Het
Bend3 T C 10: 43,510,504 S298P probably damaging Het
Cacna1b C T 2: 24,650,546 V1385M probably damaging Het
Camk2d G A 3: 126,780,442 G166D probably damaging Het
Cd84 G A 1: 171,885,581 C291Y probably benign Het
Cdhr2 A G 13: 54,715,644 I113V probably benign Het
Cfap206 G A 4: 34,719,053 Q318* probably null Het
Chd9 C T 8: 91,033,987 P2120L probably benign Het
Cyth1 T A 11: 118,193,653 I25F probably damaging Het
D3Ertd254e T A 3: 36,166,140 S771T probably benign Het
Dock2 A T 11: 34,266,279 N1208K probably benign Het
Dock2 A G 11: 34,719,005 S203P probably damaging Het
Ehbp1l1 G T 19: 5,708,658 T1652K possibly damaging Het
Eps8l2 G A 7: 141,355,792 probably null Het
Gm10250 A G 15: 5,120,814 probably benign Het
Gm9772 T C 17: 22,006,637 H94R probably benign Het
Hspg2 G A 4: 137,520,109 G1184D probably damaging Het
Igfn1 T A 1: 135,978,305 D255V probably damaging Het
Marf1 T C 16: 14,114,200 H1651R probably benign Het
Mllt10 T C 2: 18,162,653 V385A possibly damaging Het
Mmp1b G A 9: 7,386,984 S76L probably benign Het
Mrps2 C A 2: 28,468,315 T39K probably benign Het
Myo6 T C 9: 80,281,526 Y715H probably damaging Het
Nsun7 A G 5: 66,283,712 E392G probably damaging Het
Obscn C T 11: 59,069,991 E3374K probably damaging Het
Oit1 T C 14: 8,361,479 I47V probably benign Het
Olfr1136 A T 2: 87,693,729 M51K probably benign Het
Olfr1206 A T 2: 88,864,871 I89F probably benign Het
Olfr434 G A 6: 43,217,503 V197I probably benign Het
Olfr684 A G 7: 105,157,271 V137A probably benign Het
Pkd2 C T 5: 104,478,902 P317S probably damaging Het
Prl5a1 T C 13: 28,145,505 S56P probably damaging Het
Psmd1 A G 1: 86,082,101 probably null Het
Ptchd3 T C 11: 121,842,479 C732R probably damaging Het
Rad51c A T 11: 87,402,763 V71E probably benign Het
Scn11a A T 9: 119,792,494 I619K possibly damaging Het
Slc16a4 C A 3: 107,300,847 Y224* probably null Het
Slc22a30 G A 19: 8,400,811 S167L probably damaging Het
Slc6a5 T C 7: 49,945,567 I559T probably damaging Het
Spire1 A G 18: 67,503,466 F364L probably damaging Het
Srek1 G A 13: 103,744,855 T421I unknown Het
St8sia4 T C 1: 95,653,528 H163R probably damaging Het
Supt6 A G 11: 78,213,261 probably null Het
Tas2r103 T C 6: 133,036,597 T169A probably benign Het
Thrap3 A G 4: 126,180,030 S308P probably damaging Het
V1rd19 C T 7: 24,003,735 L209F probably damaging Het
Other mutations in Sgpp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Sgpp1 APN 12 75716194 nonsense probably null
IGL01348:Sgpp1 APN 12 75734993 missense probably damaging 1.00
IGL01481:Sgpp1 APN 12 75722657 missense probably benign 0.31
IGL03384:Sgpp1 APN 12 75716106 unclassified probably benign
R0597:Sgpp1 UTSW 12 75735100 missense probably damaging 1.00
R1203:Sgpp1 UTSW 12 75716282 missense probably benign 0.07
R1648:Sgpp1 UTSW 12 75716216 missense possibly damaging 0.94
R1842:Sgpp1 UTSW 12 75716208 missense probably damaging 1.00
R1932:Sgpp1 UTSW 12 75716179 nonsense probably null
R1958:Sgpp1 UTSW 12 75735448 missense probably benign 0.00
R4034:Sgpp1 UTSW 12 75716190 missense probably damaging 1.00
R4730:Sgpp1 UTSW 12 75734939 missense probably benign
R5531:Sgpp1 UTSW 12 75735207 nonsense probably null
R6733:Sgpp1 UTSW 12 75735469 missense probably benign 0.22
R6775:Sgpp1 UTSW 12 75735469 missense probably benign 0.22
R6778:Sgpp1 UTSW 12 75716294 missense probably benign 0.00
R6783:Sgpp1 UTSW 12 75735469 missense probably benign 0.22
R6784:Sgpp1 UTSW 12 75735469 missense probably benign 0.22
R6928:Sgpp1 UTSW 12 75716570 missense probably damaging 1.00
R7381:Sgpp1 UTSW 12 75716264 missense probably damaging 1.00
R7805:Sgpp1 UTSW 12 75722677 missense probably damaging 0.97
R8113:Sgpp1 UTSW 12 75716600 missense probably damaging 0.97
RF043:Sgpp1 UTSW 12 75722625 frame shift probably null
X0018:Sgpp1 UTSW 12 75716518 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACGATCCGTAATATGGCTTTTCC -3'
(R):5'- TCCAGTACATCGGTATGGTTGG -3'

Sequencing Primer
(F):5'- GGCTTTTCCAAACAGAGTTACAG -3'
(R):5'- AGTTAAAAGAGCACGATACTAACTG -3'
Posted On2014-09-18