Incidental Mutation 'R1599:S1pr5'
ID 176041
Institutional Source Beutler Lab
Gene Symbol S1pr5
Ensembl Gene ENSMUSG00000045087
Gene Name sphingosine-1-phosphate receptor 5
Synonyms S1P5, Edg8, lpB4
MMRRC Submission 039636-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.360) question?
Stock # R1599 (G1)
Quality Score 195
Status Not validated
Chromosome 9
Chromosomal Location 21154213-21159739 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 21155230 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 399 (T399S)
Ref Sequence ENSEMBL: ENSMUSP00000113843 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049567] [ENSMUST00000122088] [ENSMUST00000193982] [ENSMUST00000194542] [ENSMUST00000216436]
AlphaFold Q91X56
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: T399S

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000113843
Gene: ENSMUSG00000045087
AA Change: T399S

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
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 88.9%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A G 12: 71,197,033 (GRCm39) E202G probably damaging Het
Adam23 A G 1: 63,610,092 (GRCm39) D698G possibly damaging Het
Adam3 T C 8: 25,215,377 (GRCm39) D20G possibly damaging Het
Adamts12 T C 15: 11,071,797 (GRCm39) S114P probably damaging Het
Adgrg6 T A 10: 14,343,057 (GRCm39) R297* probably null Het
Ahdc1 A T 4: 132,792,247 (GRCm39) S1163C possibly damaging Het
Axl A G 7: 25,463,394 (GRCm39) Y619H probably damaging Het
Bcl11a G T 11: 24,113,887 (GRCm39) C410F probably damaging Het
Brca2 C A 5: 150,472,178 (GRCm39) S2359* probably null Het
Calca A G 7: 114,233,707 (GRCm39) S75P probably damaging Het
Ccn2 A T 10: 24,473,297 (GRCm39) R279W probably benign Het
Ccpg1 T A 9: 72,906,407 (GRCm39) Y54* probably null Het
Cfap161 A T 7: 83,425,287 (GRCm39) M268K possibly damaging Het
Cfap61 T A 2: 145,854,083 (GRCm39) V365E probably benign Het
Cgnl1 T C 9: 71,548,709 (GRCm39) I1000V probably benign Het
Chd2 A T 7: 73,122,799 (GRCm39) D978E probably benign Het
Cyth1 G A 11: 118,068,047 (GRCm39) T297M probably damaging Het
Dennd1b T G 1: 139,095,468 (GRCm39) D505E probably benign Het
Dgkd A G 1: 87,809,608 (GRCm39) T99A possibly damaging Het
Fam161a A T 11: 22,971,093 (GRCm39) M180L probably benign Het
Gar1 G T 3: 129,624,253 (GRCm39) R80S probably benign Het
Gm28042 T C 2: 119,866,944 (GRCm39) S419P probably benign Het
Gm5591 A C 7: 38,219,794 (GRCm39) C360G probably benign Het
Golga2 A G 2: 32,193,185 (GRCm39) H427R probably benign Het
Gpt2 A G 8: 86,238,863 (GRCm39) Y232C probably damaging Het
Hnrnpll T A 17: 80,361,054 (GRCm39) H118L unknown Het
Ice2 T A 9: 69,318,724 (GRCm39) C303S probably null Het
Ikzf3 C A 11: 98,357,919 (GRCm39) G473C probably damaging Het
Kansl3 A T 1: 36,406,951 (GRCm39) D38E probably damaging Het
Kcna6 A T 6: 126,716,282 (GRCm39) D202E probably benign Het
Klhl21 G A 4: 152,096,757 (GRCm39) G341D probably damaging Het
Klhl29 A T 12: 5,143,538 (GRCm39) V497D probably damaging Het
Kmt2b G A 7: 30,270,000 (GRCm39) L2449F probably damaging Het
Kmt5c A G 7: 4,744,899 (GRCm39) E10G probably damaging Het
Lama3 C T 18: 12,583,457 (GRCm39) Q682* probably null Het
Lamb3 T C 1: 193,002,801 (GRCm39) V82A probably damaging Het
Larp4b C T 13: 9,172,186 (GRCm39) T2I probably damaging Het
Man2a1 T C 17: 64,986,826 (GRCm39) Y613H possibly damaging Het
Mcm3 G A 1: 20,890,422 (GRCm39) T4I probably benign Het
Mki67 C T 7: 135,301,663 (GRCm39) A1124T probably benign Het
Mlh3 A T 12: 85,315,143 (GRCm39) L348I probably damaging Het
Mmrn1 G A 6: 60,922,021 (GRCm39) M159I probably benign Het
Muc5ac A T 7: 141,352,640 (GRCm39) Q709L possibly damaging Het
Naip2 C T 13: 100,298,489 (GRCm39) A516T possibly damaging Het
Nosip A G 7: 44,723,430 (GRCm39) N32S probably benign Het
Npat T C 9: 53,473,704 (GRCm39) Y499H possibly damaging Het
Nt5c1b T A 12: 10,440,024 (GRCm39) I522N probably damaging Het
Or1j18 G T 2: 36,625,001 (GRCm39) V223F probably benign Het
Or2r3 T A 6: 42,448,176 (GRCm39) K312M probably damaging Het
Or52d3 A G 7: 104,228,855 (GRCm39) M1V probably null Het
Or7g32 T A 9: 19,389,517 (GRCm39) T7S probably damaging Het
Pappa2 A G 1: 158,684,742 (GRCm39) F799S probably damaging Het
Pate5 T C 9: 35,750,333 (GRCm39) N113S probably benign Het
Pcdha1 C T 18: 37,318,290 (GRCm39) T941M probably damaging Het
Pilrb2 A T 5: 137,866,859 (GRCm39) F215I possibly damaging Het
Pkd1l3 G T 8: 110,363,016 (GRCm39) M1092I probably benign Het
Ppp1r21 G T 17: 88,880,055 (GRCm39) V491L probably benign Het
Prickle2 T C 6: 92,387,855 (GRCm39) T516A probably benign Het
Prr27 G T 5: 87,991,084 (GRCm39) R232L probably benign Het
Rab3gap2 C T 1: 184,983,223 (GRCm39) T454I probably benign Het
Rgs11 C A 17: 26,427,223 (GRCm39) H385N probably damaging Het
Sacs G A 14: 61,441,087 (GRCm39) M1044I probably benign Het
Sec31b T A 19: 44,511,592 (GRCm39) Q603L possibly damaging Het
Setx G A 2: 29,030,385 (GRCm39) E275K probably benign Het
Sh3tc1 G A 5: 35,864,856 (GRCm39) P444S probably benign Het
Shoc1 A T 4: 59,072,349 (GRCm39) N622K possibly damaging Het
Strn3 T A 12: 51,699,549 (GRCm39) N208Y possibly damaging Het
Tmem87a T C 2: 120,224,868 (GRCm39) N131S probably damaging Het
Tmprss13 T A 9: 45,249,616 (GRCm39) W318R probably damaging Het
Trabd2b T C 4: 114,266,178 (GRCm39) V64A probably damaging Het
Trafd1 A T 5: 121,517,720 (GRCm39) N24K probably damaging Het
Ttc41 T C 10: 86,612,437 (GRCm39) S1237P probably benign Het
Ttll1 A G 15: 83,381,555 (GRCm39) V238A probably benign Het
Vps50 T C 6: 3,565,537 (GRCm39) S492P probably benign Het
Zic1 T C 9: 91,243,741 (GRCm39) I409V probably benign Het
Other mutations in S1pr5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00966:S1pr5 APN 9 21,155,512 (GRCm39) missense possibly damaging 0.55
IGL01719:S1pr5 APN 9 21,155,250 (GRCm39) missense probably benign 0.03
sipho UTSW 9 21,155,425 (GRCm39) missense probably benign 0.01
R0392:S1pr5 UTSW 9 21,156,277 (GRCm39) missense probably damaging 1.00
R0448:S1pr5 UTSW 9 21,155,503 (GRCm39) missense probably damaging 1.00
R1703:S1pr5 UTSW 9 21,155,346 (GRCm39) missense possibly damaging 0.52
R1850:S1pr5 UTSW 9 21,155,425 (GRCm39) missense probably benign 0.01
R2095:S1pr5 UTSW 9 21,156,154 (GRCm39) missense probably benign 0.04
R2178:S1pr5 UTSW 9 21,155,760 (GRCm39) missense probably benign 0.36
R3082:S1pr5 UTSW 9 21,156,286 (GRCm39) missense probably damaging 1.00
R3430:S1pr5 UTSW 9 21,156,378 (GRCm39) missense probably benign 0.00
R5578:S1pr5 UTSW 9 21,155,847 (GRCm39) missense probably damaging 1.00
R7444:S1pr5 UTSW 9 21,156,378 (GRCm39) missense possibly damaging 0.89
R8294:S1pr5 UTSW 9 21,156,300 (GRCm39) missense possibly damaging 0.47
Predicted Primers PCR Primer
(F):5'- TTGTCCATCTCAGATCCCGAGTGC -3'
(R):5'- GCTGCTGAATCCCATCATCTACACC -3'

Sequencing Primer
(F):5'- TGCATTTTTGTCTGTTCTTGTTATG -3'
(R):5'- ACAGCTTGCAGCGATCC -3'
Posted On 2014-04-24