Incidental Mutation 'R2098:Sgpp1'
ID 230389
Institutional Source Beutler Lab
Gene Symbol Sgpp1
Ensembl Gene ENSMUSG00000021054
Gene Name sphingosine-1-phosphate phosphatase 1
Synonyms SPP, SPP1, mSPP1
MMRRC Submission 040102-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.131) question?
Stock # R2098 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 75761023-75782503 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 75763284 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9JI99
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: 109,927,405 (GRCm39) E1316G probably damaging Het
Arhgap32 C A 9: 32,171,207 (GRCm39) T1329K probably damaging Het
Arhgef10l G C 4: 140,306,743 (GRCm39) L104V probably damaging Het
Bend3 T C 10: 43,386,500 (GRCm39) S298P probably damaging Het
Cacna1b C T 2: 24,540,558 (GRCm39) V1385M probably damaging Het
Camk2d G A 3: 126,574,091 (GRCm39) G166D probably damaging Het
Cd84 G A 1: 171,713,148 (GRCm39) C291Y probably benign Het
Cdhr2 A G 13: 54,863,457 (GRCm39) I113V probably benign Het
Cfap206 G A 4: 34,719,053 (GRCm39) Q318* probably null Het
Chd9 C T 8: 91,760,615 (GRCm39) P2120L probably benign Het
Cyth1 T A 11: 118,084,479 (GRCm39) I25F probably damaging Het
Dock2 A T 11: 34,216,279 (GRCm39) N1208K probably benign Het
Dock2 A G 11: 34,609,832 (GRCm39) S203P probably damaging Het
Ehbp1l1 G T 19: 5,758,686 (GRCm39) T1652K possibly damaging Het
Eps8l2 G A 7: 140,935,705 (GRCm39) probably null Het
Fam3d T C 14: 8,361,479 (GRCm38) I47V probably benign Het
Gm10250 A G 15: 5,150,296 (GRCm39) probably benign Het
Gm9772 T C 17: 22,225,618 (GRCm39) H94R probably benign Het
Hspg2 G A 4: 137,247,420 (GRCm39) G1184D probably damaging Het
Igfn1 T A 1: 135,906,043 (GRCm39) D255V probably damaging Het
Marf1 T C 16: 13,932,064 (GRCm39) H1651R probably benign Het
Mllt10 T C 2: 18,167,464 (GRCm39) V385A possibly damaging Het
Mmp1b G A 9: 7,386,984 (GRCm39) S76L probably benign Het
Mrps2 C A 2: 28,358,327 (GRCm39) T39K probably benign Het
Myo6 T C 9: 80,188,808 (GRCm39) Y715H probably damaging Het
Nsun7 A G 5: 66,441,055 (GRCm39) E392G probably damaging Het
Obscn C T 11: 58,960,817 (GRCm39) E3374K probably damaging Het
Or2a20 G A 6: 43,194,437 (GRCm39) V197I probably benign Het
Or4c11 A T 2: 88,695,215 (GRCm39) I89F probably benign Het
Or56a4 A G 7: 104,806,478 (GRCm39) V137A probably benign Het
Or5w13 A T 2: 87,524,073 (GRCm39) M51K probably benign Het
Pkd2 C T 5: 104,626,768 (GRCm39) P317S probably damaging Het
Prl5a1 T C 13: 28,329,488 (GRCm39) S56P probably damaging Het
Psmd1 A G 1: 86,009,823 (GRCm39) probably null Het
Ptchd3 T C 11: 121,733,305 (GRCm39) C732R probably damaging Het
Rad51c A T 11: 87,293,589 (GRCm39) V71E probably benign Het
Scn11a A T 9: 119,621,560 (GRCm39) I619K possibly damaging Het
Slc16a4 C A 3: 107,208,163 (GRCm39) Y224* probably null Het
Slc22a30 G A 19: 8,378,175 (GRCm39) S167L probably damaging Het
Slc6a5 T C 7: 49,595,315 (GRCm39) I559T probably damaging Het
Spire1 A G 18: 67,636,536 (GRCm39) F364L probably damaging Het
Srek1 G A 13: 103,881,363 (GRCm39) T421I unknown Het
St8sia4 T C 1: 95,581,253 (GRCm39) H163R probably damaging Het
Supt6 A G 11: 78,104,087 (GRCm39) probably null Het
Tas2r103 T C 6: 133,013,560 (GRCm39) T169A probably benign Het
Thrap3 A G 4: 126,073,823 (GRCm39) S308P probably damaging Het
V1rd19 C T 7: 23,703,160 (GRCm39) L209F probably damaging Het
Zfp267 T A 3: 36,220,289 (GRCm39) S771T probably benign Het
Other mutations in Sgpp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Sgpp1 APN 12 75,762,968 (GRCm39) nonsense probably null
IGL01348:Sgpp1 APN 12 75,781,767 (GRCm39) missense probably damaging 1.00
IGL01481:Sgpp1 APN 12 75,769,431 (GRCm39) missense probably benign 0.31
IGL03384:Sgpp1 APN 12 75,762,880 (GRCm39) unclassified probably benign
R0597:Sgpp1 UTSW 12 75,781,874 (GRCm39) missense probably damaging 1.00
R1203:Sgpp1 UTSW 12 75,763,056 (GRCm39) missense probably benign 0.07
R1648:Sgpp1 UTSW 12 75,762,990 (GRCm39) missense possibly damaging 0.94
R1842:Sgpp1 UTSW 12 75,762,982 (GRCm39) missense probably damaging 1.00
R1932:Sgpp1 UTSW 12 75,762,953 (GRCm39) nonsense probably null
R1958:Sgpp1 UTSW 12 75,782,222 (GRCm39) missense probably benign 0.00
R4034:Sgpp1 UTSW 12 75,762,964 (GRCm39) missense probably damaging 1.00
R4730:Sgpp1 UTSW 12 75,781,713 (GRCm39) missense probably benign
R5531:Sgpp1 UTSW 12 75,781,981 (GRCm39) nonsense probably null
R6733:Sgpp1 UTSW 12 75,782,243 (GRCm39) missense probably benign 0.22
R6775:Sgpp1 UTSW 12 75,782,243 (GRCm39) missense probably benign 0.22
R6778:Sgpp1 UTSW 12 75,763,068 (GRCm39) missense probably benign 0.00
R6783:Sgpp1 UTSW 12 75,782,243 (GRCm39) missense probably benign 0.22
R6784:Sgpp1 UTSW 12 75,782,243 (GRCm39) missense probably benign 0.22
R6928:Sgpp1 UTSW 12 75,763,344 (GRCm39) missense probably damaging 1.00
R7381:Sgpp1 UTSW 12 75,763,038 (GRCm39) missense probably damaging 1.00
R7805:Sgpp1 UTSW 12 75,769,451 (GRCm39) missense probably damaging 0.97
R8113:Sgpp1 UTSW 12 75,763,374 (GRCm39) missense probably damaging 0.97
R8786:Sgpp1 UTSW 12 75,763,152 (GRCm39) missense probably benign
R9035:Sgpp1 UTSW 12 75,782,238 (GRCm39) missense probably benign
R9243:Sgpp1 UTSW 12 75,781,961 (GRCm39) missense probably damaging 1.00
R9310:Sgpp1 UTSW 12 75,769,374 (GRCm39) missense probably benign 0.34
RF043:Sgpp1 UTSW 12 75,769,399 (GRCm39) frame shift probably null
X0018:Sgpp1 UTSW 12 75,763,292 (GRCm39) 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 On 2014-09-18