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, Edg1, S1P
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03038
Quality Score
Status
Chromosome 3
Chromosomal Location 115504082-115508704 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 115506343 bp (GRCm39)
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

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
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: 131,030,185 (GRCm39) Y111H probably damaging Het
Arhgef6 C T X: 56,290,966 (GRCm39) V262I probably benign Het
Arsk C A 13: 76,213,632 (GRCm39) probably benign Het
Ces1b T C 8: 93,793,680 (GRCm39) E303G probably benign Het
Chst9 T C 18: 15,628,360 (GRCm39) Q55R probably benign Het
Cntnap3 A T 13: 64,888,839 (GRCm39) D1153E possibly damaging Het
D130043K22Rik A G 13: 25,063,602 (GRCm39) E681G probably damaging Het
Fhad1 T C 4: 141,729,805 (GRCm39) E66G probably benign Het
Flii T C 11: 60,615,658 (GRCm39) T69A probably benign Het
Foxl1 A C 8: 121,855,158 (GRCm39) E153A probably damaging Het
Gstm3 T C 3: 107,873,485 (GRCm39) D162G possibly damaging Het
Gtpbp3 G A 8: 71,941,947 (GRCm39) V96I possibly damaging Het
Insig2 G A 1: 121,247,403 (GRCm39) T56I probably damaging Het
Kif13a A G 13: 46,926,314 (GRCm39) L264P probably damaging Het
Lama3 T G 18: 12,552,307 (GRCm39) C420G probably damaging Het
Lrp2 C T 2: 69,305,808 (GRCm39) G2918S probably damaging Het
Lrrc8b T C 5: 105,629,358 (GRCm39) L568P probably damaging Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Malrd1 G A 2: 16,132,778 (GRCm39) D1900N unknown Het
Mastl C A 2: 23,030,627 (GRCm39) probably benign Het
Med24 T G 11: 98,607,010 (GRCm39) T276P possibly damaging Het
Naip1 A C 13: 100,573,841 (GRCm39) Y239* probably null Het
Nhsl2 A G X: 101,122,491 (GRCm39) K765E probably damaging Het
Npy A G 6: 49,800,588 (GRCm39) N4S probably benign Het
Nsun2 A G 13: 69,767,703 (GRCm39) D188G probably damaging Het
Or6c88 A G 10: 129,406,790 (GRCm39) T89A probably benign Het
Pde1a C A 2: 79,718,290 (GRCm39) probably benign Het
Pik3cb G A 9: 98,947,650 (GRCm39) A509V probably damaging Het
Pou2f2 C T 7: 24,796,577 (GRCm39) S315N probably damaging Het
Prdm2 A C 4: 142,860,571 (GRCm39) S906R probably damaging Het
Prkaca C A 8: 84,721,580 (GRCm39) Q300K probably benign Het
Prox2 T C 12: 85,142,038 (GRCm39) D55G possibly damaging Het
Ryr3 T A 2: 112,498,465 (GRCm39) T3612S possibly damaging Het
Slc47a1 C T 11: 61,243,918 (GRCm39) V384M probably benign Het
Slc6a20b T C 9: 123,426,394 (GRCm39) N497S possibly damaging Het
Spen C A 4: 141,265,550 (GRCm39) R3L unknown Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Ttll6 T C 11: 96,042,786 (GRCm39) F444S probably damaging Het
Vwce T A 19: 10,624,035 (GRCm39) Y309N possibly damaging Het
Vwf T C 6: 125,581,120 (GRCm39) L586P possibly damaging Het
Wdr35 T C 12: 9,024,185 (GRCm39) 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
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
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
Posted On 2016-08-02