Incidental Mutation 'R6784:S1pr1'
ID 531548
Institutional Source Beutler Lab
Gene Symbol S1pr1
Ensembl Gene ENSMUSG00000045092
Gene Name sphingosine-1-phosphate receptor 1
Synonyms S1P1, Edg1, S1P
MMRRC Submission 044898-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6784 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 115504082-115508704 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 115505710 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 295 (Y295H)
Ref Sequence ENSEMBL: ENSMUSP00000050897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055676]
AlphaFold O08530
Predicted Effect probably damaging
Transcript: ENSMUST00000055676
AA Change: Y295H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000050897
Gene: ENSMUSG00000045092
AA Change: Y295H

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 56 326 1.6e-9 PFAM
Pfam:7tm_1 62 311 1.7e-43 PFAM
Meta Mutation Damage Score 0.3540 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.2%
Validation Efficiency 98% (46/47)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass C T 6: 23,093,895 (GRCm39) S142N probably null Het
Aida A G 1: 183,103,346 (GRCm39) Y275C probably damaging Het
Arrdc4 A G 7: 68,398,594 (GRCm39) I74T probably benign Het
C1ql4 A G 15: 98,985,290 (GRCm39) V107A probably benign Het
Ccnh T C 13: 85,360,884 (GRCm39) V284A probably benign Het
Cd180 A G 13: 102,839,213 (GRCm39) E32G probably damaging Het
Chd6 T C 2: 160,808,174 (GRCm39) D1680G probably damaging Het
Cog7 A T 7: 121,563,516 (GRCm39) probably null Het
Cyp2j6 T A 4: 96,423,741 (GRCm39) Q209L possibly damaging Het
Dars1 A T 1: 128,319,084 (GRCm39) V116E probably damaging Het
Dnah10 A G 5: 124,854,890 (GRCm39) K1932E probably damaging Het
Dock9 A G 14: 121,780,926 (GRCm39) S2086P probably damaging Het
Espl1 C G 15: 102,207,660 (GRCm39) R375G probably benign Het
Fer1l6 C T 15: 58,443,275 (GRCm39) S526L possibly damaging Het
Galnt9 G A 5: 110,768,465 (GRCm39) R587H probably damaging Het
Gigyf2 G T 1: 87,371,396 (GRCm39) V1170L probably damaging Het
Gm14412 G T 2: 177,009,133 (GRCm39) T41K probably benign Het
Gm45861 A G 8: 27,990,086 (GRCm39) probably null Het
H2bc4 T C 13: 23,868,483 (GRCm39) I90T probably damaging Het
Hoxc5 A G 15: 102,922,322 (GRCm39) probably benign Het
Jkampl A T 6: 73,445,918 (GRCm39) Y210* probably null Het
Klra1 T C 6: 130,349,817 (GRCm39) D207G probably benign Het
Lancl2 A G 6: 57,680,240 (GRCm39) N57D probably benign Het
Map2k4 T C 11: 65,582,577 (GRCm39) probably benign Het
Mgat3 G T 15: 80,096,401 (GRCm39) Q409H probably damaging Het
Mpp3 T A 11: 101,892,974 (GRCm39) probably null Het
Myh1 T A 11: 67,105,396 (GRCm39) L1062Q probably damaging Het
Nebl T A 2: 17,439,725 (GRCm39) K183* probably null Het
Npat G C 9: 53,469,458 (GRCm39) D315H probably damaging Het
Nt5c2 A G 19: 46,912,766 (GRCm39) V63A probably damaging Het
Opn1sw T A 6: 29,379,846 (GRCm39) E129D probably damaging Het
Or10ag2 C T 2: 87,248,796 (GRCm39) R135C probably benign Het
Or1e29 T G 11: 73,667,676 (GRCm39) H159P probably damaging Het
Or51t4 A T 7: 102,597,722 (GRCm39) T17S possibly damaging Het
Or5p1 A T 7: 107,916,989 (GRCm39) D296V probably damaging Het
Prdm16 T C 4: 154,407,764 (GRCm39) Y1153C probably damaging Het
Prdm6 T A 18: 53,669,698 (GRCm39) D105E probably benign Het
Pwwp4c C T X: 73,684,021 (GRCm39) R355H probably damaging Homo
Rbm27 T C 18: 42,434,929 (GRCm39) M331T probably benign Het
Sgpp1 G C 12: 75,782,243 (GRCm39) P32R probably benign Het
Sla2 C T 2: 156,725,589 (GRCm39) S3N unknown Het
Slc10a6 A G 5: 103,776,896 (GRCm39) I68T probably damaging Het
Slc5a1 T C 5: 33,315,460 (GRCm39) F493S probably benign Het
Snx14 A T 9: 88,263,845 (GRCm39) Y847N probably benign Het
Tmc1 A G 19: 20,805,015 (GRCm39) probably null Het
Vps8 C A 16: 21,381,957 (GRCm39) Q1130K 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
R5819:S1pr1 UTSW 3 115,505,789 (GRCm39) nonsense probably null
R6571:S1pr1 UTSW 3 115,505,452 (GRCm39) missense possibly damaging 0.83
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'- GCGGCTAAATTCCATGCCTG -3'
(R):5'- GTCATCCTCTACTGCAGGATC -3'

Sequencing Primer
(F):5'- CCATGCCTGGGATGATGG -3'
(R):5'- TTGGTCAGGACTCGAAGCC -3'
Posted On 2018-08-29