Incidental Mutation 'R6132:S1pr4'
ID 512264
Institutional Source Beutler Lab
Gene Symbol S1pr4
Ensembl Gene ENSMUSG00000044199
Gene Name sphingosine-1-phosphate receptor 4
Synonyms Edg6, lpC1, S1P4
MMRRC Submission 044279-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6132 (G1)
Quality Score 59.0073
Status Validated
Chromosome 10
Chromosomal Location 81333581-81335966 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 81335030 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 148 (A148V)
Ref Sequence ENSEMBL: ENSMUSP00000050412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020463] [ENSMUST00000043709] [ENSMUST00000053646] [ENSMUST00000118498]
AlphaFold Q9Z0L1
Predicted Effect probably benign
Transcript: ENSMUST00000020463
SMART Domains Protein: ENSMUSP00000020463
Gene: ENSMUSG00000020238

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
low complexity region 160 172 N/A INTRINSIC
Pfam:Peptidase_M28 205 421 1.8e-13 PFAM
Pfam:Nicastrin 217 411 2.1e-9 PFAM
transmembrane domain 521 543 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000043709
SMART Domains Protein: ENSMUSP00000049175
Gene: ENSMUSG00000034792

DomainStartEndE-ValueType
G_alpha 22 373 1.22e-188 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000053646
AA Change: A148V

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000050412
Gene: ENSMUSG00000044199
AA Change: A148V

DomainStartEndE-ValueType
low complexity region 39 54 N/A INTRINSIC
Pfam:7tm_1 66 309 1.2e-32 PFAM
low complexity region 324 337 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118498
SMART Domains Protein: ENSMUSP00000112744
Gene: ENSMUSG00000020238

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
low complexity region 160 172 N/A INTRINSIC
Pfam:Peptidase_M28 217 395 3.9e-12 PFAM
Pfam:Nicastrin 217 411 1.5e-10 PFAM
transmembrane domain 520 542 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147908
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150586
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151680
Meta Mutation Damage Score 0.0681 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 96% (49/51)
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 encoded protein is one of the predominant sphingosine 1-phosphate G-protein coupled receptors expressed in T cells, and it plays a role in suppression of T cell proliferation, generation of cytokines, and potentially other aspects of immune activation. [provided by RefSeq, Feb 2010]
PHENOTYPE: Homozygous mutation of this gene results in mid-gestation embryonic lethality. Heterozygotes exhibit decreased prepulse inhibition. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T C 7: 119,960,643 (GRCm39) Y702H probably benign Het
Adgrv1 G T 13: 81,654,195 (GRCm39) N2225K probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Alkbh5 G T 11: 60,428,821 (GRCm39) probably benign Het
Atp5mc1 A G 11: 95,965,850 (GRCm39) M1T probably null Het
Crebrf C T 17: 26,982,377 (GRCm39) P588S probably benign Het
Ctsr A C 13: 61,309,582 (GRCm39) probably null Het
Cyp2c68 A G 19: 39,691,858 (GRCm39) V355A possibly damaging Het
Ddx52 A G 11: 83,850,283 (GRCm39) K555E possibly damaging Het
Depdc5 T A 5: 33,067,811 (GRCm39) S410T probably damaging Het
Dhx30 A T 9: 109,914,847 (GRCm39) I884N probably damaging Het
Dlg1 A T 16: 31,655,059 (GRCm39) N518I possibly damaging Het
Dnah12 T A 14: 26,439,066 (GRCm39) I506N probably damaging Het
Efcab6 A G 15: 83,917,173 (GRCm39) L129P probably damaging Het
Erap1 A G 13: 74,808,401 (GRCm39) N38D probably benign Het
Esf1 A G 2: 140,001,699 (GRCm39) F383L probably benign Het
Exoc4 A G 6: 33,735,033 (GRCm39) E550G probably damaging Het
Fbxo44 G A 4: 148,240,565 (GRCm39) T221I probably benign Het
Gal3st2b A T 1: 93,867,688 (GRCm39) M112L possibly damaging Het
Golph3l C G 3: 95,499,145 (GRCm39) P96A probably benign Het
Gprc6a T A 10: 51,491,356 (GRCm39) I727F possibly damaging Het
Grin3b T C 10: 79,812,274 (GRCm39) L479P probably damaging Het
Kdm5a C T 6: 120,351,892 (GRCm39) H161Y probably damaging Het
Lman2 A G 13: 55,510,038 (GRCm39) S73P probably benign Het
Map3k19 T C 1: 127,778,213 (GRCm39) N4S possibly damaging Het
Mkln1 G A 6: 31,408,155 (GRCm39) V161M probably damaging Het
Mmel1 C T 4: 154,979,475 (GRCm39) H728Y probably damaging Het
Nova2 G A 7: 18,691,794 (GRCm39) A244T unknown Het
Nrcam T A 12: 44,617,007 (GRCm39) Y668N probably damaging Het
Oacyl G T 18: 65,859,426 (GRCm39) G255W probably damaging Het
Omd A C 13: 49,743,843 (GRCm39) I298L probably damaging Het
Or5ac19 A G 16: 59,089,367 (GRCm39) V221A probably damaging Het
Or5ak24 A T 2: 85,260,490 (GRCm39) S228T probably benign Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Otor A T 2: 142,920,520 (GRCm39) D34V probably damaging Het
Otx1 A T 11: 21,949,406 (GRCm39) L24H probably damaging Het
Pwwp2a A G 11: 43,596,455 (GRCm39) Y540C probably damaging Het
Rttn T A 18: 89,133,770 (GRCm39) probably null Het
Scn10a C T 9: 119,442,761 (GRCm39) V1495M possibly damaging Het
Sel1l3 T C 5: 53,357,531 (GRCm39) K154E possibly damaging Het
Sema3a T G 5: 13,573,142 (GRCm39) probably null Het
Slf2 T A 19: 44,949,300 (GRCm39) N870K possibly damaging Het
Spmip6 C T 4: 41,517,160 (GRCm39) M1I probably null Het
Syne2 T C 12: 75,991,921 (GRCm39) V1962A probably benign Het
Tarbp1 T A 8: 127,161,548 (GRCm39) I1219F probably benign Het
Tet1 A C 10: 62,649,079 (GRCm39) C173W probably damaging Het
Tnn A G 1: 159,973,641 (GRCm39) F242S probably damaging Het
Tollip A G 7: 141,443,334 (GRCm39) S174P probably benign Het
Tsr3 G T 17: 25,460,835 (GRCm39) D234Y probably null Het
Vmn2r106 T C 17: 20,488,666 (GRCm39) T578A probably benign Het
Zfp457 G T 13: 67,441,360 (GRCm39) S309* probably null Het
Other mutations in S1pr4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02348:S1pr4 APN 10 81,334,855 (GRCm39) nonsense probably null
jam UTSW 10 81,335,030 (GRCm39) missense probably benign 0.02
pickle UTSW 10 81,334,855 (GRCm39) nonsense probably null
R0446:S1pr4 UTSW 10 81,334,823 (GRCm39) missense probably damaging 0.98
R1605:S1pr4 UTSW 10 81,335,225 (GRCm39) splice site probably null
R1797:S1pr4 UTSW 10 81,335,024 (GRCm39) missense probably damaging 1.00
R2504:S1pr4 UTSW 10 81,335,138 (GRCm39) missense probably benign 0.01
R2858:S1pr4 UTSW 10 81,335,073 (GRCm39) missense probably damaging 1.00
R2943:S1pr4 UTSW 10 81,334,706 (GRCm39) missense probably damaging 1.00
R5849:S1pr4 UTSW 10 81,335,157 (GRCm39) missense possibly damaging 0.95
R6235:S1pr4 UTSW 10 81,334,716 (GRCm39) missense possibly damaging 0.94
R7511:S1pr4 UTSW 10 81,335,623 (GRCm39) unclassified probably benign
R7738:S1pr4 UTSW 10 81,334,341 (GRCm39) missense probably benign 0.01
R7740:S1pr4 UTSW 10 81,334,855 (GRCm39) nonsense probably null
R7833:S1pr4 UTSW 10 81,334,326 (GRCm39) missense possibly damaging 0.95
R8299:S1pr4 UTSW 10 81,335,267 (GRCm39) missense probably benign
R8862:S1pr4 UTSW 10 81,334,533 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ACATAGCCCTTGGAGTAGAGG -3'
(R):5'- ATCGCCATCTACATGCGGTC -3'

Sequencing Primer
(F):5'- CCCTTGGAGTAGAGGGGCAG -3'
(R):5'- GGTGTACTACTGCCTGCTGAAC -3'
Posted On 2018-04-13