Incidental Mutation 'IGL02481:Cysltr1'
ID 295202
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cysltr1
Ensembl Gene ENSMUSG00000052821
Gene Name cysteinyl leukotriene receptor 1
Synonyms cysteinyl leukotriene 1 receptor, leukotriene D4 receptor, CysLT1R
Accession Numbers
Essential gene? Not available question?
Stock # IGL02481
Quality Score
Status
Chromosome X
Chromosomal Location 105617952-105647285 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 105621728 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 253 (V253L)
Ref Sequence ENSEMBL: ENSMUSP00000109108 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064892] [ENSMUST00000113480]
AlphaFold Q99JA4
Predicted Effect probably damaging
Transcript: ENSMUST00000064892
AA Change: V253L

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000063520
Gene: ENSMUSG00000052821
AA Change: V253L

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srw 40 324 4.2e-13 PFAM
Pfam:7TM_GPCR_Srx 46 249 1.7e-8 PFAM
Pfam:7tm_1 55 310 2e-52 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113480
AA Change: V253L

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109108
Gene: ENSMUSG00000052821
AA Change: V253L

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srw 42 324 6.1e-13 PFAM
Pfam:7TM_GPCR_Srx 46 252 3.1e-8 PFAM
Pfam:7tm_1 55 310 5.7e-43 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the G-protein coupled receptor 1 family. The encoded protein is a receptor for cysteinyl leukotrienes, and is involved in mediating bronchoconstriction via activation of a phosphatidylinositol-calcium second messenger system. Activation of the encoded receptor results in contraction and proliferation of bronchial smooth muscle cells, eosinophil migration, and damage to the mucus layer in the lung. Upregulation of this gene is associated with asthma and dysregulation may also be implicated in cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for disruptions in this gen develop normally and both sexes are fertile. However, they display abnormalities in vascular permeability associated with inflammation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1b8 G A 6: 34,340,729 (GRCm39) A209T probably damaging Het
Ccdc90b G A 7: 92,223,854 (GRCm39) V117I probably benign Het
Cdkl2 A T 5: 92,185,130 (GRCm39) I87N probably damaging Het
Cfap57 T A 4: 118,438,302 (GRCm39) E863V probably damaging Het
Clca3a2 G A 3: 144,790,701 (GRCm39) S457L possibly damaging Het
Crim1 C T 17: 78,658,227 (GRCm39) T702I probably damaging Het
Dgcr6 G A 16: 17,883,038 (GRCm39) A6T possibly damaging Het
Dis3l T C 9: 64,226,362 (GRCm39) probably null Het
Dnm3 A G 1: 161,838,471 (GRCm39) S826P probably damaging Het
Dspp A G 5: 104,323,514 (GRCm39) N219S possibly damaging Het
Dzip3 T C 16: 48,795,914 (GRCm39) probably benign Het
Erc2 T A 14: 27,375,028 (GRCm39) L82Q probably damaging Het
Ercc6l T C X: 101,188,275 (GRCm39) T745A probably benign Het
Gata4 T C 14: 63,437,910 (GRCm39) T414A probably benign Het
Gmps A G 3: 63,921,773 (GRCm39) D592G probably damaging Het
Grin3a A G 4: 49,702,868 (GRCm39) Y873H probably damaging Het
Gsr T C 8: 34,175,569 (GRCm39) probably benign Het
Gtf2h1 T C 7: 46,454,417 (GRCm39) L133P probably damaging Het
Ifna5 A C 4: 88,754,327 (GRCm39) E189A probably benign Het
Irx5 A G 8: 93,087,307 (GRCm39) Y413C probably damaging Het
Kcnk3 A G 5: 30,779,727 (GRCm39) E259G probably damaging Het
Kcnt2 T C 1: 140,282,299 (GRCm39) probably benign Het
Kif19a A G 11: 114,679,979 (GRCm39) E772G probably benign Het
Klhdc7a T A 4: 139,693,121 (GRCm39) T609S probably benign Het
Krt78 C A 15: 101,856,853 (GRCm39) probably benign Het
Lca5 A T 9: 83,305,170 (GRCm39) I212N probably damaging Het
Lgr6 T C 1: 134,929,429 (GRCm39) probably benign Het
Madd T G 2: 91,008,381 (GRCm39) T174P probably damaging Het
Mcm9 A G 10: 53,502,033 (GRCm39) I184T probably damaging Het
Mlycd G A 8: 120,137,073 (GRCm39) R431H probably damaging Het
Myh10 G A 11: 68,692,994 (GRCm39) A1393T probably benign Het
Myof G T 19: 37,926,361 (GRCm39) Y1144* probably null Het
Nbeal2 G A 9: 110,455,063 (GRCm39) Q2578* probably null Het
Nlrp4f T A 13: 65,342,548 (GRCm39) T366S probably benign Het
Nnat T C 2: 157,403,167 (GRCm39) F36S possibly damaging Het
Nsd3 C A 8: 26,181,143 (GRCm39) P915T probably damaging Het
Or10ak12 C T 4: 118,666,696 (GRCm39) V122M probably benign Het
Or10k2 A C 8: 84,268,015 (GRCm39) M81L possibly damaging Het
Or1n1 A T 2: 36,749,830 (GRCm39) C177S probably damaging Het
Or2g25 A G 17: 37,970,363 (GRCm39) L287P probably damaging Het
Or4l1 G A 14: 50,166,164 (GRCm39) T279I probably damaging Het
Pkd1l3 A G 8: 110,341,414 (GRCm39) N89S unknown Het
Pkd2 T C 5: 104,634,636 (GRCm39) F556L probably damaging Het
Psen2 T A 1: 180,062,626 (GRCm39) M239L probably damaging Het
Rad50 A G 11: 53,570,876 (GRCm39) I794T probably benign Het
Ralgps1 G A 2: 33,230,741 (GRCm39) T14I probably benign Het
Rnpepl1 C T 1: 92,843,629 (GRCm39) P250S probably damaging Het
Skic8 T C 9: 54,635,545 (GRCm39) I19V probably damaging Het
Slc47a2 A G 11: 61,227,067 (GRCm39) V167A possibly damaging Het
Tmem161b T A 13: 84,432,112 (GRCm39) V41D probably damaging Het
Vmn2r88 A T 14: 51,651,611 (GRCm39) E308D probably benign Het
Zfhx4 G A 3: 5,476,903 (GRCm39) E3148K probably damaging Het
Other mutations in Cysltr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01064:Cysltr1 APN X 105,622,342 (GRCm39) missense probably damaging 1.00
IGL02483:Cysltr1 APN X 105,621,728 (GRCm39) missense probably damaging 0.98
R0463:Cysltr1 UTSW X 105,622,261 (GRCm39) missense possibly damaging 0.91
R0608:Cysltr1 UTSW X 105,622,261 (GRCm39) missense possibly damaging 0.91
X0063:Cysltr1 UTSW X 105,622,133 (GRCm39) missense possibly damaging 0.81
Posted On 2015-04-16