Incidental Mutation 'IGL01064:Cysltr1'
ID53319
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cysltr1
Ensembl Gene ENSMUSG00000052821
Gene Namecysteinyl leukotriene receptor 1
Synonymscysteinyl leukotriene 1 receptor, leukotriene D4 receptor, CysLT1R
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01064
Quality Score
Status
ChromosomeX
Chromosomal Location106574346-106603679 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 106578736 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 48 (I48N)
Ref Sequence ENSEMBL: ENSMUSP00000109108 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064892] [ENSMUST00000101296] [ENSMUST00000101297] [ENSMUST00000113480]
Predicted Effect probably damaging
Transcript: ENSMUST00000064892
AA Change: I48N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000063520
Gene: ENSMUSG00000052821
AA Change: I48N

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 benign
Transcript: ENSMUST00000101296
SMART Domains Protein: ENSMUSP00000098854
Gene: ENSMUSG00000073010

DomainStartEndE-ValueType
Pfam:7tm_1 32 209 1.7e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101297
SMART Domains Protein: ENSMUSP00000098855
Gene: ENSMUSG00000073010

DomainStartEndE-ValueType
Pfam:7tm_1 32 209 1.7e-6 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113480
AA Change: I48N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109108
Gene: ENSMUSG00000052821
AA Change: I48N

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,483,855 T4137S probably benign Het
Abcb1a T C 5: 8,732,388 Y924H possibly damaging Het
Ash1l T G 3: 89,072,484 C2772G probably damaging Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Cpne6 T C 14: 55,512,730 F106S probably damaging Het
Dsg1a A T 18: 20,340,206 I779F probably damaging Het
Fpr-rs4 T A 17: 18,022,517 L262H probably damaging Het
Gart G A 16: 91,623,007 R871C probably damaging Het
Get4 C T 5: 139,252,522 R20C probably damaging Het
Gm13030 G A 4: 138,873,558 probably benign Het
Gm17654 A T 14: 43,578,998 H49Q unknown Het
Gpnmb A G 6: 49,055,659 I506V probably benign Het
Ist1 T C 8: 109,682,611 I86V probably damaging Het
Kcnip1 C T 11: 33,633,192 D198N probably damaging Het
Kif5c A G 2: 49,694,816 I184V possibly damaging Het
Mink1 A T 11: 70,603,481 M236L probably benign Het
Muc5ac A T 7: 141,807,473 N1507I probably benign Het
Nrxn2 G T 19: 6,517,053 E1326D probably damaging Het
Olfr1329 A T 4: 118,916,894 M191K possibly damaging Het
Olfr1469 T C 19: 13,411,226 I219T probably benign Het
Olfr635 A T 7: 103,979,792 Y200F probably benign Het
Patj T C 4: 98,496,973 S326P possibly damaging Het
Pdha2 T C 3: 141,211,015 H244R possibly damaging Het
Pkhd1 C T 1: 20,534,530 probably benign Het
Ptk7 A T 17: 46,573,566 L746* probably null Het
Rad54b G A 4: 11,604,866 G438D probably damaging Het
Rbm27 T C 18: 42,319,814 V536A possibly damaging Het
Rundc3b T A 5: 8,569,553 M135L probably damaging Het
Sorcs2 T C 5: 36,065,352 Y353C probably damaging Het
Srcap T C 7: 127,559,892 probably benign Het
Sytl5 A G X: 9,905,595 H66R probably benign Het
Tlr7 T A X: 167,308,211 E93V probably damaging Het
Tmem156 A G 5: 65,079,984 L76S probably damaging Het
Tmem246 C T 4: 49,586,860 V103M possibly damaging Het
Tomm70a T C 16: 57,152,612 F571S probably damaging Het
Trmt10b A G 4: 45,314,347 Y261C possibly damaging Het
Other mutations in Cysltr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02481:Cysltr1 APN X 106578122 missense probably damaging 0.98
IGL02483:Cysltr1 APN X 106578122 missense probably damaging 0.98
R0463:Cysltr1 UTSW X 106578655 missense possibly damaging 0.91
R0608:Cysltr1 UTSW X 106578655 missense possibly damaging 0.91
X0063:Cysltr1 UTSW X 106578527 missense possibly damaging 0.81
Posted On2013-06-21