Incidental Mutation 'IGL03211:Cysltr2'
ID413302
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cysltr2
Ensembl Gene ENSMUSG00000033470
Gene Namecysteinyl leukotriene receptor 2
SynonymsCYSLT2R, 2300001H05Rik, Cyslt2, CysLT2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.060) question?
Stock #IGL03211
Quality Score
Status
Chromosome14
Chromosomal Location73025603-73049114 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 73029715 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 185 (M185K)
Ref Sequence ENSEMBL: ENSMUSP00000125958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044664] [ENSMUST00000169168]
Predicted Effect possibly damaging
Transcript: ENSMUST00000044664
AA Change: M185K

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000040715
Gene: ENSMUSG00000033470
AA Change: M185K

DomainStartEndE-ValueType
Pfam:TAS2R 18 307 1.6e-8 PFAM
Pfam:7tm_1 39 289 2.5e-50 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000169168
AA Change: M185K

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000125958
Gene: ENSMUSG00000033470
AA Change: M185K

DomainStartEndE-ValueType
Pfam:TAS2R 18 307 1.4e-8 PFAM
Pfam:7tm_1 39 289 1.3e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226727
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228154
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The cysteinyl leukotrienes LTC4, LTD4, and LTE4 are important mediators of human bronchial asthma. Pharmacologic studies have determined that cysteinyl leukotrienes activate at least 2 receptors, the protein encoded by this gene and CYSLTR1. This encoded receptor is a member of the superfamily of G protein-coupled receptors. It seems to play a major role in endocrine and cardiovascular systems. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display reduced bleomycin-induced pulmonary fibrosis and reduced IgE dependent passive cutaneous anaphylaxis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bmp7 C T 2: 172,872,883 V378I possibly damaging Het
Cd209b G T 8: 3,918,830 probably benign Het
Cilp A T 9: 65,280,175 Q1184L probably benign Het
Dcaf6 A G 1: 165,422,933 F121L possibly damaging Het
Dnajc8 T A 4: 132,544,737 Y95N possibly damaging Het
Ebf3 A G 7: 137,231,304 V214A probably benign Het
Elavl3 A G 9: 22,018,678 V310A probably damaging Het
Emc2 C T 15: 43,507,672 R131* probably null Het
Hcn4 G A 9: 58,858,151 V639M unknown Het
Kif21a T G 15: 90,997,963 D46A possibly damaging Het
Kitl T C 10: 100,080,859 S175P probably benign Het
Klhl32 C T 4: 24,792,616 probably null Het
Plcg1 C T 2: 160,759,691 T972I possibly damaging Het
Prdm13 T C 4: 21,678,492 H666R probably damaging Het
Rap1gap G A 4: 137,715,846 probably null Het
Rdh7 T C 10: 127,887,623 N121S probably benign Het
Ric8b T A 10: 85,001,793 I488N probably damaging Het
Slc38a2 A T 15: 96,698,272 probably null Het
Slc9a9 G A 9: 95,137,990 probably benign Het
Tk2 T A 8: 104,243,441 I64F probably damaging Het
Virma G A 4: 11,548,770 W1776* probably null Het
Vrk1 C T 12: 106,036,588 A15V probably benign Het
Wdfy3 T C 5: 101,844,912 probably benign Het
Wfdc10 T C 2: 164,657,252 V94A probably benign Het
Zfp780b A T 7: 27,963,175 C652S possibly damaging Het
Other mutations in Cysltr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1223:Cysltr2 UTSW 14 73030099 missense probably damaging 1.00
R1689:Cysltr2 UTSW 14 73030030 missense possibly damaging 0.75
R1695:Cysltr2 UTSW 14 73029881 missense probably benign 0.01
R1898:Cysltr2 UTSW 14 73029533 missense probably damaging 1.00
R3968:Cysltr2 UTSW 14 73030174 missense probably damaging 0.99
R4013:Cysltr2 UTSW 14 73029565 missense probably damaging 1.00
R4357:Cysltr2 UTSW 14 73029644 missense probably benign 0.15
R4444:Cysltr2 UTSW 14 73029893 missense possibly damaging 0.74
R4445:Cysltr2 UTSW 14 73029893 missense possibly damaging 0.74
R5207:Cysltr2 UTSW 14 73029511 missense probably damaging 0.99
R5591:Cysltr2 UTSW 14 73029491 missense probably benign 0.00
R5592:Cysltr2 UTSW 14 73029491 missense probably benign 0.00
R5593:Cysltr2 UTSW 14 73029491 missense probably benign 0.00
R5839:Cysltr2 UTSW 14 73030183 missense probably damaging 1.00
R5885:Cysltr2 UTSW 14 73029491 missense probably benign 0.00
R5886:Cysltr2 UTSW 14 73029491 missense probably benign 0.00
R5934:Cysltr2 UTSW 14 73029491 missense probably benign 0.00
R5940:Cysltr2 UTSW 14 73029491 missense probably benign 0.00
R5940:Cysltr2 UTSW 14 73029949 missense probably damaging 1.00
R7775:Cysltr2 UTSW 14 73029763 missense probably benign 0.00
R7778:Cysltr2 UTSW 14 73029763 missense probably benign 0.00
R7824:Cysltr2 UTSW 14 73029763 missense probably benign 0.00
R7939:Cysltr2 UTSW 14 73029959 missense possibly damaging 0.95
X0009:Cysltr2 UTSW 14 73029979 missense probably benign 0.04
Posted On2016-08-02