Incidental Mutation 'R5819:S1pr1'
ID 449209
Institutional Source Beutler Lab
Gene Symbol S1pr1
Ensembl Gene ENSMUSG00000045092
Gene Name sphingosine-1-phosphate receptor 1
Synonyms S1P1, Edg1, S1P
MMRRC Submission 043399-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5819 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 115504082-115508704 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 115505789 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold O08530
Predicted Effect probably null
Transcript: ENSMUST00000055676
AA Change: C268*
SMART Domains Protein: ENSMUSP00000050897
Gene: ENSMUSG00000045092
AA Change: C268*

DomainStartEndE-ValueType
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
Abca4 A T 3: 121,930,630 (GRCm39) I1376F probably damaging Het
Aggf1 T C 13: 95,488,129 (GRCm39) N673D possibly damaging Het
Avil T C 10: 126,845,867 (GRCm39) F372S probably damaging Het
Bltp1 A T 3: 37,102,749 (GRCm39) M4863L probably benign Het
Bod1l T A 5: 41,989,948 (GRCm39) E258D probably benign Het
Chek1 T A 9: 36,621,701 (GRCm39) H420L probably benign Het
Cyfip1 A G 7: 55,528,899 (GRCm39) I260M probably damaging Het
Dclk1 G A 3: 55,397,285 (GRCm39) V524I probably damaging Het
Efr3b T C 12: 4,042,965 (GRCm39) M102V probably benign Het
Erc2 T A 14: 27,863,326 (GRCm39) I517N probably damaging Het
Fubp1 T C 3: 151,926,190 (GRCm39) I305T probably damaging Het
Galc T A 12: 98,182,520 (GRCm39) D443V probably benign Het
Galnt4 T A 10: 98,945,892 (GRCm39) I539N probably damaging Het
Gm17093 G T 14: 44,758,986 (GRCm39) M169I unknown Het
Htra1 T C 7: 130,583,469 (GRCm39) F363S probably damaging Het
Itprid1 A T 6: 55,874,876 (GRCm39) K275N probably benign Het
Klhdc8b G A 9: 108,328,261 (GRCm39) P64S probably benign Het
Kmt2c A G 5: 25,614,130 (GRCm39) probably null Het
Mettl21c T G 1: 44,048,882 (GRCm39) K222Q probably damaging Het
Mga A C 2: 119,771,744 (GRCm39) M1535L possibly damaging Het
Mov10 C T 3: 104,708,828 (GRCm39) G395D probably damaging Het
Ms4a10 C A 19: 10,946,054 (GRCm39) A26S probably benign Het
Mtcl3 A T 10: 29,073,269 (GRCm39) M854L probably benign Het
Naaladl1 A G 19: 6,159,684 (GRCm39) N372D possibly damaging Het
Optc T C 1: 133,825,617 (GRCm39) D303G probably damaging Het
Or4f52 A T 2: 111,061,304 (GRCm39) I278N probably damaging Het
Osmr C A 15: 6,845,268 (GRCm39) V833L probably benign Het
Phf14 A G 6: 11,997,251 (GRCm39) probably null Het
Pjvk A G 2: 76,488,713 (GRCm39) I295V probably benign Het
Plppr4 T A 3: 117,119,513 (GRCm39) I299L possibly damaging Het
Prkg1 A G 19: 31,563,072 (GRCm39) S110P probably benign Het
Ptprq T A 10: 107,555,744 (GRCm39) probably benign Het
Rarb T G 14: 16,443,820 (GRCm38) N156T possibly damaging Het
Rgl3 A T 9: 21,892,898 (GRCm39) probably null Het
Ruvbl1 A C 6: 88,460,097 (GRCm39) probably null Het
Sbk3 T C 7: 4,972,996 (GRCm39) D58G probably benign Het
Scgb2b3 T A 7: 31,059,639 (GRCm39) H45L possibly damaging Het
Smim8 TTTAATGAAGAGCT TT 4: 34,771,261 (GRCm39) probably benign Het
Tas2r119 T C 15: 32,177,452 (GRCm39) L6P probably damaging Het
Tcp11 A T 17: 28,288,210 (GRCm39) F339L probably damaging Het
Tdpoz8 A G 3: 92,981,039 (GRCm39) Y19C probably damaging Het
Tmprss5 T A 9: 49,025,779 (GRCm39) probably null Het
Trnau1ap A G 4: 132,052,521 (GRCm39) probably benign Het
Trp53bp1 G A 2: 121,038,873 (GRCm39) R1397* probably null Het
Ubqln3 G A 7: 103,790,674 (GRCm39) P472L probably benign Het
Vmn2r13 T A 5: 109,321,966 (GRCm39) M244L possibly damaging Het
Zfp777 C T 6: 48,014,522 (GRCm39) E395K probably damaging Het
Zfyve27 A G 19: 42,171,935 (GRCm39) S156G probably benign Het
Other mutations in S1pr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02635:S1pr1 APN 3 115,505,739 (GRCm39) missense probably benign
IGL02698:S1pr1 APN 3 115,505,746 (GRCm39) nonsense probably null
IGL03038:S1pr1 APN 3 115,506,343 (GRCm39) missense possibly damaging 0.74
Compatriot UTSW 3 115,505,683 (GRCm39) missense probably damaging 1.00
Jammed UTSW 3 115,505,452 (GRCm39) missense possibly damaging 0.83
sardines UTSW 3 115,505,628 (GRCm39) missense probably damaging 1.00
Stau UTSW 3 115,505,710 (GRCm39) missense probably damaging 1.00
Stuffed UTSW 3 115,505,922 (GRCm39) missense probably damaging 1.00
R1753:S1pr1 UTSW 3 115,505,587 (GRCm39) missense probably benign
R2002:S1pr1 UTSW 3 115,506,544 (GRCm39) missense probably benign 0.00
R6571:S1pr1 UTSW 3 115,505,452 (GRCm39) missense possibly damaging 0.83
R6784:S1pr1 UTSW 3 115,505,710 (GRCm39) missense probably damaging 1.00
R7348:S1pr1 UTSW 3 115,505,710 (GRCm39) missense probably damaging 1.00
R7493:S1pr1 UTSW 3 115,505,922 (GRCm39) missense probably damaging 1.00
R7816:S1pr1 UTSW 3 115,505,947 (GRCm39) missense possibly damaging 0.49
R8088:S1pr1 UTSW 3 115,505,683 (GRCm39) missense probably damaging 1.00
R8115:S1pr1 UTSW 3 115,506,298 (GRCm39) missense probably benign 0.03
R8714:S1pr1 UTSW 3 115,505,470 (GRCm39) missense probably benign 0.02
R8871:S1pr1 UTSW 3 115,505,628 (GRCm39) missense probably damaging 1.00
R8962:S1pr1 UTSW 3 115,505,569 (GRCm39) missense
RF004:S1pr1 UTSW 3 115,506,536 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GATACGATCCGGATGAAGGC -3'
(R):5'- TGCATCAGCTCGCTGTCTAG -3'

Sequencing Primer
(F):5'- CCCGGCGCATCTCCTTG -3'
(R):5'- GTCTAGCTGCTCCACCGTG -3'
Posted On 2016-12-20