Incidental Mutation 'IGL01719:S1pr5'
ID105031
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol S1pr5
Ensembl Gene ENSMUSG00000045087
Gene Namesphingosine-1-phosphate receptor 5
SynonymsS1P5, Edg8, lpB4
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.337) question?
Stock #IGL01719
Quality Score
Status
Chromosome9
Chromosomal Location21242912-21248443 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 21243954 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 392 (R392L)
Ref Sequence ENSEMBL: ENSMUSP00000113843 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049567] [ENSMUST00000122088] [ENSMUST00000193982] [ENSMUST00000194542] [ENSMUST00000216436]
Predicted Effect probably benign
Transcript: ENSMUST00000049567
SMART Domains Protein: ENSMUSP00000062467
Gene: ENSMUSG00000003308

DomainStartEndE-ValueType
BTB 77 179 1.33e-25 SMART
BACK 184 286 2.19e-34 SMART
Kelch 327 372 4.2e-11 SMART
Kelch 373 423 4.1e-14 SMART
Kelch 424 470 5.12e-15 SMART
Kelch 471 517 1.02e-18 SMART
Kelch 518 564 1.23e-17 SMART
Kelch 565 611 7.58e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122088
AA Change: R392L

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000113843
Gene: ENSMUSG00000045087
AA Change: R392L

DomainStartEndE-ValueType
Pfam:7tm_1 53 307 9.6e-37 PFAM
low complexity region 318 327 N/A INTRINSIC
low complexity region 340 350 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000193982
SMART Domains Protein: ENSMUSP00000141840
Gene: ENSMUSG00000003308

DomainStartEndE-ValueType
BTB 77 179 1.33e-25 SMART
BACK 184 286 2.19e-34 SMART
Kelch 327 372 4.2e-11 SMART
Kelch 373 423 4.1e-14 SMART
Kelch 424 470 5.12e-15 SMART
Kelch 471 517 1.02e-18 SMART
Kelch 518 564 1.23e-17 SMART
Kelch 565 611 7.58e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000194542
SMART Domains Protein: ENSMUSP00000141807
Gene: ENSMUSG00000003308

DomainStartEndE-ValueType
BTB 77 179 1.33e-25 SMART
BACK 184 286 2.19e-34 SMART
Kelch 327 372 4.2e-11 SMART
Kelch 373 423 4.1e-14 SMART
Kelch 424 470 5.12e-15 SMART
Kelch 471 517 1.02e-18 SMART
Kelch 518 564 1.23e-17 SMART
Kelch 565 611 7.58e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215491
Predicted Effect probably benign
Transcript: ENSMUST00000216436
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The lysosphingolipid sphingosine 1-phosphate (S1P) regulates cell proliferation, apoptosis, motility, and neurite retraction. Its actions may be both intracellular as a second messenger and extracellular as a receptor ligand. S1P and the structurally related lysolipid mediator lysophosphatidic acid (LPA) signal cells through a set of G protein-coupled receptors known as EDG receptors. Some EDG receptors (e.g., EDG1; MIM 601974) are S1P receptors; others (e.g., EDG2; MIM 602282) are LPA receptors.[supplied by OMIM, Mar 2008]
PHENOTYPE: Bone marrow from mice homozygous for a knock-out allele induces impaired NK cell egression from the lymph nodes and bone marrow. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 G A 6: 85,628,094 R1773Q probably benign Het
Ankk1 A G 9: 49,416,781 V366A probably benign Het
Antxr2 C T 5: 97,948,273 R384Q possibly damaging Het
Cdh13 G A 8: 118,675,188 V110M probably benign Het
Ctnna2 T A 6: 77,636,975 K198* probably null Het
Dpf3 C A 12: 83,294,433 S223I probably damaging Het
Galnt5 A G 2: 57,998,543 R52G probably damaging Het
Gm4787 G A 12: 81,377,174 R737C possibly damaging Het
Grin2b T A 6: 135,733,381 I1056F probably damaging Het
H2al2a T A 2: 17,996,635 H80L probably damaging Het
Hipk3 T C 2: 104,437,089 H601R possibly damaging Het
Hivep2 T C 10: 14,130,523 L955P probably damaging Het
Jund C T 8: 70,699,236 A60V possibly damaging Het
Klhdc7a A G 4: 139,966,550 L362P probably damaging Het
Lpar5 T G 6: 125,082,006 V230G possibly damaging Het
Lrba C T 3: 86,327,596 probably benign Het
Olfr739 T C 14: 50,424,561 F14S possibly damaging Het
Pcdhb5 T G 18: 37,321,022 S152A probably benign Het
Plekha5 A C 6: 140,570,129 E702D probably damaging Het
Ppt1 A G 4: 122,844,067 Y66C probably damaging Het
Slc37a2 T C 9: 37,234,178 T410A probably damaging Het
St18 A G 1: 6,845,796 probably benign Het
Taar7d T A 10: 24,027,967 M249K probably benign Het
Vwa5b2 T C 16: 20,597,433 probably null Het
Zan T A 5: 137,395,654 T4512S unknown Het
Other mutations in S1pr5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00966:S1pr5 APN 9 21244216 missense possibly damaging 0.55
sipho UTSW 9 21244129 missense probably benign 0.01
R0392:S1pr5 UTSW 9 21244981 missense probably damaging 1.00
R0448:S1pr5 UTSW 9 21244207 missense probably damaging 1.00
R1599:S1pr5 UTSW 9 21243934 missense probably benign 0.02
R1703:S1pr5 UTSW 9 21244050 missense possibly damaging 0.52
R1850:S1pr5 UTSW 9 21244129 missense probably benign 0.01
R2095:S1pr5 UTSW 9 21244858 missense probably benign 0.04
R2178:S1pr5 UTSW 9 21244464 missense probably benign 0.36
R3082:S1pr5 UTSW 9 21244990 missense probably damaging 1.00
R3430:S1pr5 UTSW 9 21245082 missense probably benign 0.00
R5578:S1pr5 UTSW 9 21244551 missense probably damaging 1.00
R7444:S1pr5 UTSW 9 21245082 missense possibly damaging 0.89
Posted On2014-01-21