Incidental Mutation 'IGL02270:S1pr3'
ID287107
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol S1pr3
Ensembl Gene ENSMUSG00000067586
Gene Namesphingosine-1-phosphate receptor 3
SynonymsLPb3, Edg3, S1P3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02270
Quality Score
Status
Chromosome13
Chromosomal Location51408639-51422797 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 51419056 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 91 (I91T)
Ref Sequence ENSEMBL: ENSMUSP00000085293 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087978]
Predicted Effect probably benign
Transcript: ENSMUST00000087978
AA Change: I91T

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000085293
Gene: ENSMUSG00000067586
AA Change: I91T

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 51 313 1.8e-12 PFAM
Pfam:7tm_1 57 298 8.8e-39 PFAM
low complexity region 334 350 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220470
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222417
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the G-protein coupled receptor 1 family. The encoded protein is a receptor for the lysophospholipid sphingosine 1-phosphate. The gene product functions in endothelial cells and is involved in vascular and heart development. The gene product mediates HDL and HDL-associated lysophospholipid-induced vasorelaxation, and it coordinates with other lysophospholipid receptors in the process of angiogenesis. [provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene display an essentially normal phenotype although litter sizes are reduced. Susceptibility to pulmonary edema is also reduced. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T C 13: 81,559,195 probably null Het
Bmi1 T A 2: 18,684,458 S318T probably benign Het
Cntnap5c G A 17: 58,034,853 V180I probably benign Het
Cyp2b10 A G 7: 25,913,937 E186G probably damaging Het
Ddx25 G T 9: 35,554,412 probably benign Het
Dis3 A G 14: 99,078,354 F901L probably benign Het
Dnah7a T A 1: 53,472,893 N3003I possibly damaging Het
Ebf2 A G 14: 67,238,953 D124G probably damaging Het
Efcab5 A T 11: 77,104,313 I1144N probably damaging Het
Exoc4 G A 6: 33,580,026 V489I possibly damaging Het
Garem1 A G 18: 21,148,450 V283A probably damaging Het
Gfra2 G A 14: 70,925,907 R210H possibly damaging Het
Gli3 T C 13: 15,726,786 probably benign Het
Gm7247 A T 14: 51,521,884 M107L probably benign Het
Map2k5 A T 9: 63,322,197 probably null Het
Mki67 C T 7: 135,698,632 D1558N probably damaging Het
Mylk4 A G 13: 32,729,066 probably benign Het
Olfr1 A G 11: 73,395,365 V219A probably benign Het
Olfr112 G T 17: 37,563,580 H244N possibly damaging Het
Olfr2 A T 7: 107,001,423 C146S probably damaging Het
Olfr669 A G 7: 104,939,369 N281S possibly damaging Het
Plcd1 T C 9: 119,084,641 T50A probably damaging Het
Rasgrp3 A G 17: 75,516,373 R480G probably benign Het
Ripor3 T C 2: 167,993,496 E185G probably damaging Het
Slc26a4 C T 12: 31,528,854 probably benign Het
Slc28a3 T C 13: 58,580,584 T104A probably benign Het
Slc6a11 A G 6: 114,238,396 D419G probably damaging Het
St3gal2 A G 8: 110,957,766 I19V probably benign Het
Sycp1 C A 3: 102,895,943 C517F probably benign Het
Trav15-1-dv6-1 G A 14: 53,559,998 E35K possibly damaging Het
Vmn1r121 T C 7: 21,098,476 E13G probably damaging Het
Vmn1r199 T A 13: 22,383,006 S114T probably damaging Het
Vmn2r-ps159 T C 4: 156,334,655 noncoding transcript Het
Other mutations in S1pr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01759:S1pr3 APN 13 51419512 missense probably damaging 1.00
IGL01997:S1pr3 APN 13 51419715 missense probably damaging 1.00
R0242:S1pr3 UTSW 13 51418902 missense probably benign 0.00
R0242:S1pr3 UTSW 13 51418902 missense probably benign 0.00
R0584:S1pr3 UTSW 13 51419661 missense probably benign 0.00
R1869:S1pr3 UTSW 13 51419916 missense probably benign 0.01
R1870:S1pr3 UTSW 13 51419916 missense probably benign 0.01
R2338:S1pr3 UTSW 13 51419578 missense possibly damaging 0.76
R5472:S1pr3 UTSW 13 51419647 missense probably damaging 1.00
R6006:S1pr3 UTSW 13 51419695 missense probably damaging 1.00
R6345:S1pr3 UTSW 13 51419031 missense probably damaging 1.00
R6345:S1pr3 UTSW 13 51419032 missense probably damaging 1.00
R6702:S1pr3 UTSW 13 51419439 missense probably damaging 1.00
R6703:S1pr3 UTSW 13 51419439 missense probably damaging 1.00
Posted On2015-04-16