Incidental Mutation 'IGL02348:S1pr4'
ID 289391
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol S1pr4
Ensembl Gene ENSMUSG00000044199
Gene Name sphingosine-1-phosphate receptor 4
Synonyms Edg6, lpC1, S1P4
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02348
Quality Score
Status
Chromosome 10
Chromosomal Location 81333581-81335966 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to C at 81334855 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 206 (Y206*)
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 null
Transcript: ENSMUST00000053646
AA Change: Y206*
SMART Domains Protein: ENSMUSP00000050412
Gene: ENSMUSG00000044199
AA Change: Y206*

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
Coding Region Coverage
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap12 G A 10: 4,304,722 (GRCm39) D511N probably damaging Het
Akt3 T A 1: 176,886,952 (GRCm39) D299V probably damaging Het
Arfgef3 G A 10: 18,467,095 (GRCm39) P2035L probably benign Het
Atp13a3 C T 16: 30,170,046 (GRCm39) probably null Het
Capn9 C A 8: 125,321,416 (GRCm39) P151T probably damaging Het
Csrnp1 T A 9: 119,801,709 (GRCm39) D450V probably damaging Het
Ctrb1 C T 8: 112,413,762 (GRCm39) A201T possibly damaging Het
Erp27 T C 6: 136,888,544 (GRCm39) T145A probably damaging Het
Fads2b T C 2: 85,323,640 (GRCm39) I298V possibly damaging Het
Fanca A T 8: 124,032,002 (GRCm39) L256Q probably damaging Het
Fars2 G A 13: 36,721,354 (GRCm39) V433I probably benign Het
Fbxo9 T A 9: 78,016,289 (GRCm39) M1L probably benign Het
Fcnb C A 2: 27,974,842 (GRCm39) V10F possibly damaging Het
Gad2 C T 2: 22,519,405 (GRCm39) H175Y probably damaging Het
Get4 G A 5: 139,238,254 (GRCm39) G12D probably benign Het
Gmpr2 T A 14: 55,915,758 (GRCm39) I312N probably damaging Het
Golm1 T A 13: 59,786,191 (GRCm39) M334L probably benign Het
Itgam T A 7: 127,715,472 (GRCm39) F1054L possibly damaging Het
Kcnk7 C A 19: 5,756,501 (GRCm39) probably benign Het
Kif3b G A 2: 153,158,813 (GRCm39) A205T probably damaging Het
Macf1 C T 4: 123,406,659 (GRCm39) V276M probably damaging Het
Mdga2 T A 12: 66,597,349 (GRCm39) N715I probably damaging Het
Mfap5 T A 6: 122,503,746 (GRCm39) S103R possibly damaging Het
Nckap1 C T 2: 80,348,326 (GRCm39) V876M probably damaging Het
Ncor1 A T 11: 62,224,485 (GRCm39) probably benign Het
Nfya G A 17: 48,700,304 (GRCm39) Q122* probably null Het
Nup210l G A 3: 90,011,471 (GRCm39) probably benign Het
Or5h22 T G 16: 58,895,312 (GRCm39) I44L probably damaging Het
Pcdhb19 T A 18: 37,631,861 (GRCm39) L552Q probably damaging Het
Psmd2 T A 16: 20,473,397 (GRCm39) S153T probably benign Het
Ptpn4 T C 1: 119,610,452 (GRCm39) Y685C probably damaging Het
Rad54l2 T C 9: 106,597,575 (GRCm39) R144G probably damaging Het
Slc39a14 A G 14: 70,553,885 (GRCm39) probably null Het
Stx2 G A 5: 129,065,894 (GRCm39) A254V probably damaging Het
Sumf2 G T 5: 129,888,711 (GRCm39) G216C probably damaging Het
Tbc1d32 A G 10: 56,100,715 (GRCm39) S88P probably benign Het
Trem1 T A 17: 48,539,824 (GRCm39) M1K probably null Het
Trmt1l T C 1: 151,325,757 (GRCm39) Y401H probably damaging Het
Ttc22 A T 4: 106,480,135 (GRCm39) M130L probably damaging Het
Wnk1 T C 6: 119,940,289 (GRCm39) E816G probably damaging Het
Wnt9b C T 11: 103,622,908 (GRCm39) G165D probably damaging Het
Zscan21 A G 5: 138,131,645 (GRCm39) T390A probably damaging Het
Zswim7 G T 11: 62,159,581 (GRCm39) C85* probably null Het
Other mutations in S1pr4
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2015-04-16