Incidental Mutation 'R0448:S1pr5'
ID39453
Institutional Source Beutler Lab
Gene Symbol S1pr5
Ensembl Gene ENSMUSG00000045087
Gene Namesphingosine-1-phosphate receptor 5
SynonymsS1P5, Edg8, lpB4
MMRRC Submission 038648-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.167) question?
Stock #R0448 (G1)
Quality Score176
Status Validated
Chromosome9
Chromosomal Location21242912-21248443 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 21244207 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 308 (T308S)
Ref Sequence ENSEMBL: ENSMUSP00000113843 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000122088] [ENSMUST00000194542] [ENSMUST00000216436]
Predicted Effect probably damaging
Transcript: ENSMUST00000122088
AA Change: T308S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113843
Gene: ENSMUSG00000045087
AA Change: T308S

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: 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
Meta Mutation Damage Score 0.156 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 93.1%
Validation Efficiency 100% (74/74)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600015I10Rik A T 6: 48,933,057 S643C probably damaging Het
9530053A07Rik T C 7: 28,140,235 I491T probably benign Het
Abcc5 G A 16: 20,399,937 R232C probably damaging Het
Adam9 A G 8: 24,964,910 S732P probably damaging Het
Add2 G A 6: 86,092,919 V140I probably benign Het
Ahi1 G A 10: 20,972,075 G461S probably damaging Het
Arhgef7 A G 8: 11,819,659 T432A possibly damaging Het
Arsi T C 18: 60,917,302 I419T probably damaging Het
Brca1 G A 11: 101,508,221 P1515L possibly damaging Het
Brcc3 T A X: 75,450,041 L222* probably null Het
Brpf3 A T 17: 28,806,036 T28S probably benign Het
Cdc20b T A 13: 113,078,657 V253E probably damaging Het
Cnot6l T A 5: 96,080,046 S443C probably benign Het
Copg1 G A 6: 87,904,926 A587T probably benign Het
Crebrf A G 17: 26,743,102 D391G probably benign Het
Crocc A T 4: 141,042,191 D283E probably damaging Het
Cryga T C 1: 65,103,159 N25S probably benign Het
Csnk1g1 T C 9: 65,980,948 F90L possibly damaging Het
Cyp2j6 A G 4: 96,545,728 V115A probably benign Het
Cyp3a11 T C 5: 145,862,394 I328V probably benign Het
Dchs1 C A 7: 105,765,927 E683D probably benign Het
Dnah9 T C 11: 65,918,713 probably benign Het
Dqx1 T C 6: 83,060,345 S330P probably damaging Het
Epg5 A G 18: 78,023,365 Y2160C probably damaging Het
Ercc5 T C 1: 44,173,940 L742P probably damaging Het
Flt1 C T 5: 147,566,394 probably benign Het
Gm9513 T A 9: 36,477,116 M79K probably benign Het
Grip2 A G 6: 91,779,213 S498P probably damaging Het
H2-T22 A G 17: 36,042,386 L14P possibly damaging Het
Hephl1 C T 9: 15,076,926 G629S probably damaging Het
Hsdl2 T A 4: 59,606,523 M162K unknown Het
Kcnh8 C A 17: 52,977,620 probably null Het
Krt76 T C 15: 101,890,647 Q201R probably damaging Het
Lrpprc A T 17: 84,770,894 Y319N probably benign Het
Lrrk2 T G 15: 91,709,305 I489R probably damaging Het
Mboat1 G T 13: 30,202,410 D136Y probably damaging Het
Mcmdc2 T C 1: 9,940,542 *682Q probably null Het
Msx2 C A 13: 53,468,395 R193L probably damaging Het
Nfatc4 T G 14: 55,831,654 D625E possibly damaging Het
Nup153 T C 13: 46,717,181 E86G probably benign Het
Olfr1295 T A 2: 111,565,214 I77F probably benign Het
Olfr130 G T 17: 38,067,672 R167L probably benign Het
Pard3b T C 1: 62,166,469 L474P probably damaging Het
Pggt1b A T 18: 46,262,972 probably benign Het
Pik3r2 A G 8: 70,772,044 probably benign Het
Prr14 A G 7: 127,474,726 probably benign Het
Rcbtb2 T C 14: 73,178,429 probably benign Het
Rufy2 G A 10: 63,004,736 D429N probably benign Het
Sephs1 A G 2: 4,899,560 T250A probably benign Het
Serpina12 A G 12: 104,038,095 S93P probably benign Het
Serpinb1b T G 13: 33,089,692 H123Q probably benign Het
Sftpc C T 14: 70,522,680 V46I probably benign Het
Skint8 T A 4: 111,936,890 V159D probably damaging Het
Slc25a11 T C 11: 70,645,579 N134S probably benign Het
Slc25a24 T C 3: 109,157,016 probably benign Het
Sorl1 C G 9: 42,004,088 V1282L probably damaging Het
Sptan1 T A 2: 30,026,810 I2170N probably damaging Het
Syne4 A G 7: 30,314,920 probably benign Het
Tcam1 G A 11: 106,284,078 E120K probably benign Het
Tg C A 15: 66,764,442 P626Q probably damaging Het
Thoc6 T A 17: 23,669,576 D196V probably damaging Het
Tpi1 A G 6: 124,814,103 F57S probably damaging Het
Tril A G 6: 53,817,808 *810Q probably null Het
Trrap T A 5: 144,839,567 V2972D possibly damaging Het
Ttn T C 2: 76,720,939 M31370V probably damaging Het
Ttn A T 2: 76,761,280 V12688E probably damaging Het
Txndc11 A G 16: 11,091,761 F307S probably damaging Het
Vmn1r40 C T 6: 89,714,660 S153L probably benign Het
Vmn2r95 A G 17: 18,451,743 T581A possibly damaging Het
Wdtc1 A G 4: 133,297,500 F462S probably damaging Het
Zfp101 A G 17: 33,382,321 S154P possibly damaging Het
Zmym6 A G 4: 127,108,694 N481D probably benign Het
Other mutations in S1pr5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00966:S1pr5 APN 9 21244216 missense possibly damaging 0.55
IGL01719:S1pr5 APN 9 21243954 missense probably benign 0.03
sipho UTSW 9 21244129 missense probably benign 0.01
R0392:S1pr5 UTSW 9 21244981 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
Predicted Primers PCR Primer
(F):5'- TTGCAAAGGGTTGGGAAGCGTC -3'
(R):5'- TGCCATCTGTGCGCTCTATGCAAG -3'

Sequencing Primer
(F):5'- TCAGTCTGTAGCAGTAGGCAC -3'
(R):5'- GCGCTCTATGCAAGGATTTAC -3'
Posted On2013-05-23