Incidental Mutation 'R5819:S1pr1'
Institutional Source Beutler Lab
Gene Symbol S1pr1
Ensembl Gene ENSMUSG00000045092
Gene Namesphingosine-1-phosphate receptor 1
SynonymsS1P1, S1P, Edg1
MMRRC Submission 043399-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R5819 (G1)
Quality Score225
Status Not validated
Chromosomal Location115710433-115715072 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to T at 115712140 bp
Amino Acid Change Cysteine to Stop codon at position 268 (C268*)
Ref Sequence ENSEMBL: ENSMUSP00000050897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055676]
Predicted Effect probably null
Transcript: ENSMUST00000055676
AA Change: C268*
SMART Domains Protein: ENSMUSP00000050897
Gene: ENSMUSG00000045092
AA Change: C268*

Pfam:7TM_GPCR_Srsx 56 326 1.6e-9 PFAM
Pfam:7tm_1 62 311 1.7e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000064809
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206983
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a G-protein-coupled receptor bound by the lysophospholipid, sphingosine 1-phosphate. The gene product functions in endothelial cells and is involved in vascular and heart development. This receptor is highly expressed in T and B lymphocytes, and it plays a role in T cell and B cell export from peripheral lymphoid organs. This protein is bound and downregulated by FTY720, an exogenous immunosuppressant drug studied in mouse disease models for multiple sclerosis in humans. [provided by RefSeq, Jan 2010]
PHENOTYPE: Homozygotes for targeted mutations exhibit vascular defects resulting in embryonic hemorrhaging and lethality by embryonic day 14.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A T 3: 37,048,600 M4863L probably benign Het
Abca4 A T 3: 122,136,981 I1376F probably damaging Het
Aggf1 T C 13: 95,351,621 N673D possibly damaging Het
Avil T C 10: 127,009,998 F372S probably damaging Het
Bod1l T A 5: 41,832,605 E258D probably benign Het
Ccdc129 A T 6: 55,897,891 K275N probably benign Het
Chek1 T A 9: 36,710,405 H420L probably benign Het
Cyfip1 A G 7: 55,879,151 I260M probably damaging Het
Dclk1 G A 3: 55,489,864 V524I probably damaging Het
Efr3b T C 12: 3,992,965 M102V probably benign Het
Erc2 T A 14: 28,141,369 I517N probably damaging Het
Fubp1 T C 3: 152,220,553 I305T probably damaging Het
Galc T A 12: 98,216,261 D443V probably benign Het
Galnt4 T A 10: 99,110,030 I539N probably damaging Het
Gm17093 G T 14: 44,521,529 M169I unknown Het
Gm4858 A G 3: 93,073,732 Y19C probably damaging Het
Htra1 T C 7: 130,981,739 F363S probably damaging Het
Klhdc8b G A 9: 108,451,062 P64S probably benign Het
Kmt2c A G 5: 25,409,132 probably null Het
Mettl21c T G 1: 44,009,722 K222Q probably damaging Het
Mga A C 2: 119,941,263 M1535L possibly damaging Het
Mov10 C T 3: 104,801,512 G395D probably damaging Het
Ms4a10 C A 19: 10,968,690 A26S probably benign Het
Naaladl1 A G 19: 6,109,654 N372D possibly damaging Het
Olfr1275 A T 2: 111,230,959 I278N probably damaging Het
Optc T C 1: 133,897,879 D303G probably damaging Het
Osmr C A 15: 6,815,787 V833L probably benign Het
Phf14 A G 6: 11,997,252 probably null Het
Pjvk A G 2: 76,658,369 I295V probably benign Het
Plppr4 T A 3: 117,325,864 I299L possibly damaging Het
Prkg1 A G 19: 31,585,672 S110P probably benign Het
Ptprq T A 10: 107,719,883 probably benign Het
Rarb T G 14: 16,443,820 N156T possibly damaging Het
Rgl3 A T 9: 21,981,602 probably null Het
Ruvbl1 A C 6: 88,483,115 probably null Het
Sbk3 T C 7: 4,969,997 D58G probably benign Het
Scgb2b3 T A 7: 31,360,214 H45L possibly damaging Het
Smim8 TTTAATGAAGAGCT TT 4: 34,771,261 probably benign Het
Soga3 A T 10: 29,197,273 M854L probably benign Het
Tas2r119 T C 15: 32,177,306 L6P probably damaging Het
Tcp11 A T 17: 28,069,236 F339L probably damaging Het
Tmprss5 T A 9: 49,114,479 probably null Het
Trnau1ap A G 4: 132,325,210 probably benign Het
Trp53bp1 G A 2: 121,208,392 R1397* probably null Het
Ubqln3 G A 7: 104,141,467 P472L probably benign Het
Vmn2r13 T A 5: 109,174,100 M244L possibly damaging Het
Zfp777 C T 6: 48,037,588 E395K probably damaging Het
Zfyve27 A G 19: 42,183,496 S156G probably benign Het
Other mutations in S1pr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02635:S1pr1 APN 3 115712090 missense probably benign
IGL02698:S1pr1 APN 3 115712097 nonsense probably null
IGL03038:S1pr1 APN 3 115712694 missense possibly damaging 0.74
Jammed UTSW 3 115711803 missense possibly damaging 0.83
Stau UTSW 3 115712061 missense probably damaging 1.00
Stuffed UTSW 3 115712273 missense probably damaging 1.00
R1753:S1pr1 UTSW 3 115711938 missense probably benign
R2002:S1pr1 UTSW 3 115712895 missense probably benign 0.00
R6571:S1pr1 UTSW 3 115711803 missense possibly damaging 0.83
R6784:S1pr1 UTSW 3 115712061 missense probably damaging 1.00
R7348:S1pr1 UTSW 3 115712061 missense probably damaging 1.00
R7493:S1pr1 UTSW 3 115712273 missense probably damaging 1.00
R7816:S1pr1 UTSW 3 115712298 missense possibly damaging 0.49
R8088:S1pr1 UTSW 3 115712034 missense probably damaging 1.00
R8115:S1pr1 UTSW 3 115712649 missense probably benign 0.03
RF004:S1pr1 UTSW 3 115712887 nonsense probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On2016-12-20