Incidental Mutation 'R2858:S1pr4'
ID 252578
Institutional Source Beutler Lab
Gene Symbol S1pr4
Ensembl Gene ENSMUSG00000044199
Gene Name sphingosine-1-phosphate receptor 4
Synonyms Edg6, lpC1, S1P4
MMRRC Submission 040448-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2858 (G1)
Quality Score 126
Status Validated
Chromosome 10
Chromosomal Location 81333581-81335966 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 81335073 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 134 (A134S)
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 damaging
Transcript: ENSMUST00000053646
AA Change: A134S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050412
Gene: ENSMUSG00000044199
AA Change: A134S

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 0.5963 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 100% (37/37)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik T A 5: 107,693,667 (GRCm39) F95I probably benign Het
Abcg5 A G 17: 84,977,648 (GRCm39) probably null Het
Amfr A T 8: 94,731,842 (GRCm39) N11K probably damaging Het
Bltp3a G T 17: 28,104,436 (GRCm39) R494L probably damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cdh23 C T 10: 60,218,432 (GRCm39) probably null Het
Chd4 A G 6: 125,081,849 (GRCm39) K481R probably damaging Het
Cyp2a22 T C 7: 26,633,687 (GRCm39) Y341C probably damaging Het
Ddb2 T C 2: 91,047,022 (GRCm39) T338A probably damaging Het
Fat2 A G 11: 55,174,599 (GRCm39) V2038A possibly damaging Het
Fbxo36 A G 1: 84,874,316 (GRCm39) K104R probably benign Het
Fmo9 A C 1: 166,501,236 (GRCm39) F237C probably damaging Het
Helz G A 11: 107,563,753 (GRCm39) probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Ifit1bl1 A T 19: 34,571,722 (GRCm39) I245K probably benign Het
Ighv1-22 T C 12: 114,709,918 (GRCm39) D109G probably damaging Het
Kcnk10 T C 12: 98,401,548 (GRCm39) R376G possibly damaging Het
Lrrc66 T A 5: 73,764,646 (GRCm39) E799V probably benign Het
Lrrc7 T A 3: 157,867,362 (GRCm39) N793I probably damaging Het
Nexn C T 3: 151,953,680 (GRCm39) E247K probably damaging Het
Ntmt1 A G 2: 30,712,377 (GRCm39) H140R probably damaging Het
Or11g27 T A 14: 50,770,897 (GRCm39) N9K probably benign Het
Or3a10 C T 11: 73,935,653 (GRCm39) G149D possibly damaging Het
Or9e1 T A 11: 58,732,708 (GRCm39) V256E probably benign Het
Pask A G 1: 93,249,373 (GRCm39) Y676H probably benign Het
Polq T A 16: 36,883,115 (GRCm39) F1760I possibly damaging Het
Ppp1r1b T C 11: 98,246,145 (GRCm39) probably benign Het
Psmf1 A G 2: 151,571,456 (GRCm39) L169P probably damaging Het
Rcbtb1 T A 14: 59,458,861 (GRCm39) probably null Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slc24a1 T C 9: 64,856,614 (GRCm39) I98V unknown Het
Slc6a21 G A 7: 44,929,952 (GRCm39) A147T possibly damaging Het
Sycp3 A G 10: 88,303,234 (GRCm39) E166G probably damaging Het
Vmn2r82 T A 10: 79,217,090 (GRCm39) I474N probably damaging Het
Zfp1007 T C 5: 109,823,819 (GRCm39) T544A probably benign 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
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
R6132:S1pr4 UTSW 10 81,335,030 (GRCm39) missense probably benign 0.02
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'- AAAGAGCACATAGCCCTTGGAG -3'
(R):5'- ATCGCCATCTACATGCGGTC -3'

Sequencing Primer
(F):5'- CACATAGCCCTTGGAGTAGAG -3'
(R):5'- CCCGCCGCTGGGTGTAC -3'
Posted On 2014-12-04