Incidental Mutation 'IGL03038:S1pr1'
ID 408802
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol S1pr1
Ensembl Gene ENSMUSG00000045092
Gene Name sphingosine-1-phosphate receptor 1
Synonyms S1P1, S1P, Edg1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL03038
Quality Score
Chromosome 3
Chromosomal Location 115710433-115715072 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 115712694 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 84 (I84L)
Ref Sequence ENSEMBL: ENSMUSP00000050897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055676]
AlphaFold O08530
Predicted Effect possibly damaging
Transcript: ENSMUST00000055676
AA Change: I84L

PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000050897
Gene: ENSMUSG00000045092
AA Change: I84L

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
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb T C 7: 131,428,456 Y111H probably damaging Het
Arhgef6 C T X: 57,245,606 V262I probably benign Het
Arsk C A 13: 76,065,513 probably benign Het
Ces1b T C 8: 93,067,052 E303G probably benign Het
Chst9 T C 18: 15,495,303 Q55R probably benign Het
Cntnap3 A T 13: 64,741,025 D1153E possibly damaging Het
D130043K22Rik A G 13: 24,879,619 E681G probably damaging Het
Fhad1 T C 4: 142,002,494 E66G probably benign Het
Flii T C 11: 60,724,832 T69A probably benign Het
Foxl1 A C 8: 121,128,419 E153A probably damaging Het
Gstm3 T C 3: 107,966,169 D162G possibly damaging Het
Gtpbp3 G A 8: 71,489,303 V96I possibly damaging Het
Insig2 G A 1: 121,319,674 T56I probably damaging Het
Kif13a A G 13: 46,772,838 L264P probably damaging Het
Lama3 T G 18: 12,419,250 C420G probably damaging Het
Lrp2 C T 2: 69,475,464 G2918S probably damaging Het
Lrrc8b T C 5: 105,481,492 L568P probably damaging Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Malrd1 G A 2: 16,127,967 D1900N unknown Het
Mastl C A 2: 23,140,615 probably benign Het
Med24 T G 11: 98,716,184 T276P possibly damaging Het
Naip1 A C 13: 100,437,333 Y239* probably null Het
Nhsl2 A G X: 102,078,885 K765E probably damaging Het
Npy A G 6: 49,823,608 N4S probably benign Het
Nsun2 A G 13: 69,619,584 D188G probably damaging Het
Olfr794 A G 10: 129,570,921 T89A probably benign Het
Pde1a C A 2: 79,887,946 probably benign Het
Pik3cb G A 9: 99,065,597 A509V probably damaging Het
Pou2f2 C T 7: 25,097,152 S315N probably damaging Het
Prdm2 A C 4: 143,134,001 S906R probably damaging Het
Prkaca C A 8: 83,994,951 Q300K probably benign Het
Prox2 T C 12: 85,095,264 D55G possibly damaging Het
Ryr3 T A 2: 112,668,120 T3612S possibly damaging Het
Slc47a1 C T 11: 61,353,092 V384M probably benign Het
Slc6a20b T C 9: 123,597,329 N497S possibly damaging Het
Spen C A 4: 141,538,239 R3L unknown Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Ttll6 T C 11: 96,151,960 F444S probably damaging Het
Vwce T A 19: 10,646,671 Y309N possibly damaging Het
Vwf T C 6: 125,604,157 L586P possibly damaging Het
Wdr35 T C 12: 8,974,185 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
Compatriot UTSW 3 115712034 missense probably damaging 1.00
Jammed UTSW 3 115711803 missense possibly damaging 0.83
sardines UTSW 3 115711979 missense probably damaging 1.00
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
R5819:S1pr1 UTSW 3 115712140 nonsense probably null
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
R8714:S1pr1 UTSW 3 115711821 missense probably benign 0.02
R8871:S1pr1 UTSW 3 115711979 missense probably damaging 1.00
R8962:S1pr1 UTSW 3 115711920 missense
RF004:S1pr1 UTSW 3 115712887 nonsense probably null
Posted On 2016-08-02