Incidental Mutation 'IGL02483:Cysltr1'
ID 295307
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 # IGL02483
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre5 T G 8: 84,451,882 (GRCm39) I512L probably damaging Het
Ahnak C A 19: 8,980,672 (GRCm39) T652N probably benign Het
Akr1b8 G A 6: 34,340,729 (GRCm39) A209T probably damaging Het
Arnt2 T A 7: 83,900,605 (GRCm39) H659L probably damaging Het
Cad A G 5: 31,218,170 (GRCm39) probably null Het
Car6 T A 4: 150,280,586 (GRCm39) N86I probably damaging Het
Cfap57 T A 4: 118,438,302 (GRCm39) E863V probably damaging Het
Cyp2c39 T A 19: 39,525,231 (GRCm39) I178N 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
Erc2 T A 14: 27,375,028 (GRCm39) L82Q probably damaging Het
Ercc6l T C X: 101,188,275 (GRCm39) T745A probably benign Het
Fmo4 A G 1: 162,635,990 (GRCm39) V54A possibly damaging Het
Foxd3 C T 4: 99,545,265 (GRCm39) S135F probably damaging Het
Fut7 T A 2: 25,313,888 (GRCm39) F21Y possibly damaging Het
Gata4 T C 14: 63,437,910 (GRCm39) T414A probably benign Het
Gm4950 A T 18: 51,998,406 (GRCm39) M183K probably damaging Het
Gmps A G 3: 63,921,773 (GRCm39) D592G probably damaging Het
Hpd A T 5: 123,320,641 (GRCm39) probably null Het
Imp4 T C 1: 34,483,356 (GRCm39) probably null Het
Itgbl1 A T 14: 124,065,155 (GRCm39) probably benign Het
Kcnt2 T C 1: 140,282,299 (GRCm39) probably benign Het
Kdr C T 5: 76,096,954 (GRCm39) probably null Het
Lca5 A T 9: 83,305,170 (GRCm39) I212N probably damaging Het
Lgr6 T C 1: 134,929,429 (GRCm39) probably benign Het
Lrrc28 T C 7: 67,267,731 (GRCm39) probably benign Het
Madd T G 2: 91,008,381 (GRCm39) T174P probably damaging Het
Map3k8 A G 18: 4,349,318 (GRCm39) probably benign Het
Mcm3 A G 1: 20,873,796 (GRCm39) S775P possibly damaging Het
Myh10 G A 11: 68,692,994 (GRCm39) A1393T probably benign Het
Nbas C T 12: 13,374,295 (GRCm39) A541V probably damaging 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
Oma1 C T 4: 103,182,309 (GRCm39) R271* probably null Het
Or10ak12 C T 4: 118,666,696 (GRCm39) V122M probably benign Het
Or2g25 A G 17: 37,970,363 (GRCm39) L287P probably damaging Het
Or4c111 G T 2: 88,843,547 (GRCm39) T287N probably damaging Het
Plekhh2 T C 17: 84,903,688 (GRCm39) F1058S possibly damaging Het
Psen2 T A 1: 180,062,626 (GRCm39) M239L probably damaging Het
Psme3ip1 A G 8: 95,315,394 (GRCm39) probably benign Het
Rad50 A G 11: 53,570,876 (GRCm39) I794T probably benign Het
Rgs12 A G 5: 35,187,861 (GRCm39) E506G probably damaging Het
Rnpepl1 C T 1: 92,843,629 (GRCm39) P250S probably damaging Het
Sfr1 G A 19: 47,721,227 (GRCm39) probably benign Het
Skic8 T C 9: 54,635,545 (GRCm39) I19V probably damaging Het
Tmem184a T C 5: 139,798,832 (GRCm39) E39G probably benign Het
Trim66 C T 7: 109,076,837 (GRCm39) probably benign Het
Ugt2b35 A G 5: 87,149,004 (GRCm39) Y85C possibly damaging Het
Uts2r G T 11: 121,051,213 (GRCm39) G26C possibly damaging Het
Vmn2r88 A T 14: 51,651,611 (GRCm39) E308D probably benign Het
Other mutations in Cysltr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01064:Cysltr1 APN X 105,622,342 (GRCm39) missense probably damaging 1.00
IGL02481: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