Incidental Mutation 'IGL03211:Cysltr2'
| ID |
413302 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cysltr2
|
| Ensembl Gene |
ENSMUSG00000033470 |
| Gene Name |
cysteinyl leukotriene receptor 2 |
| Synonyms |
CysLT2, 2300001H05Rik, Cyslt2, CYSLT2R |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
IGL03211
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
73263043-73286554 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 73267155 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| AlphaFold |
Q920A1 |
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bmp7 |
C |
T |
2: 172,714,676 (GRCm39) |
V378I |
possibly damaging |
Het |
| Cd209b |
G |
T |
8: 3,968,830 (GRCm39) |
|
probably benign |
Het |
| Cilp |
A |
T |
9: 65,187,457 (GRCm39) |
Q1184L |
probably benign |
Het |
| Dcaf6 |
A |
G |
1: 165,250,502 (GRCm39) |
F121L |
possibly damaging |
Het |
| Dnajc8 |
T |
A |
4: 132,272,048 (GRCm39) |
Y95N |
possibly damaging |
Het |
| Ebf3 |
A |
G |
7: 136,833,033 (GRCm39) |
V214A |
probably benign |
Het |
| Elavl3 |
A |
G |
9: 21,929,974 (GRCm39) |
V310A |
probably damaging |
Het |
| Emc2 |
C |
T |
15: 43,371,068 (GRCm39) |
R131* |
probably null |
Het |
| Hcn4 |
G |
A |
9: 58,765,434 (GRCm39) |
V639M |
unknown |
Het |
| Kif21a |
T |
G |
15: 90,882,166 (GRCm39) |
D46A |
possibly damaging |
Het |
| Kitl |
T |
C |
10: 99,916,721 (GRCm39) |
S175P |
probably benign |
Het |
| Klhl32 |
C |
T |
4: 24,792,616 (GRCm39) |
|
probably null |
Het |
| Plcg1 |
C |
T |
2: 160,601,611 (GRCm39) |
T972I |
possibly damaging |
Het |
| Prdm13 |
T |
C |
4: 21,678,492 (GRCm39) |
H666R |
probably damaging |
Het |
| Rap1gap |
G |
A |
4: 137,443,157 (GRCm39) |
|
probably null |
Het |
| Rdh7 |
T |
C |
10: 127,723,492 (GRCm39) |
N121S |
probably benign |
Het |
| Ric8b |
T |
A |
10: 84,837,657 (GRCm39) |
I488N |
probably damaging |
Het |
| Slc38a2 |
A |
T |
15: 96,596,153 (GRCm39) |
|
probably null |
Het |
| Slc9a9 |
G |
A |
9: 95,020,043 (GRCm39) |
|
probably benign |
Het |
| Tk2 |
T |
A |
8: 104,970,073 (GRCm39) |
I64F |
probably damaging |
Het |
| Virma |
G |
A |
4: 11,548,770 (GRCm39) |
W1776* |
probably null |
Het |
| Vrk1 |
C |
T |
12: 106,002,847 (GRCm39) |
A15V |
probably benign |
Het |
| Wdfy3 |
T |
C |
5: 101,992,778 (GRCm39) |
|
probably benign |
Het |
| Wfdc10 |
T |
C |
2: 164,499,172 (GRCm39) |
V94A |
probably benign |
Het |
| Zfp780b |
A |
T |
7: 27,662,600 (GRCm39) |
C652S |
possibly damaging |
Het |
|
| Other mutations in Cysltr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1223:Cysltr2
|
UTSW |
14 |
73,267,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1689:Cysltr2
|
UTSW |
14 |
73,267,470 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1695:Cysltr2
|
UTSW |
14 |
73,267,321 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1898:Cysltr2
|
UTSW |
14 |
73,266,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3968:Cysltr2
|
UTSW |
14 |
73,267,614 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4013:Cysltr2
|
UTSW |
14 |
73,267,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4357:Cysltr2
|
UTSW |
14 |
73,267,084 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4444:Cysltr2
|
UTSW |
14 |
73,267,333 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4445:Cysltr2
|
UTSW |
14 |
73,267,333 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5207:Cysltr2
|
UTSW |
14 |
73,266,951 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5591:Cysltr2
|
UTSW |
14 |
73,266,931 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5592:Cysltr2
|
UTSW |
14 |
73,266,931 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5593:Cysltr2
|
UTSW |
14 |
73,266,931 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5839:Cysltr2
|
UTSW |
14 |
73,267,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5885:Cysltr2
|
UTSW |
14 |
73,266,931 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5886:Cysltr2
|
UTSW |
14 |
73,266,931 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5934:Cysltr2
|
UTSW |
14 |
73,266,931 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5940:Cysltr2
|
UTSW |
14 |
73,267,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5940:Cysltr2
|
UTSW |
14 |
73,266,931 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7775:Cysltr2
|
UTSW |
14 |
73,267,203 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7778:Cysltr2
|
UTSW |
14 |
73,267,203 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7824:Cysltr2
|
UTSW |
14 |
73,267,203 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7939:Cysltr2
|
UTSW |
14 |
73,267,399 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8719:Cysltr2
|
UTSW |
14 |
73,267,111 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8750:Cysltr2
|
UTSW |
14 |
73,267,078 (GRCm39) |
missense |
probably benign |
|
|
R9764:Cysltr2
|
UTSW |
14 |
73,266,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0009:Cysltr2
|
UTSW |
14 |
73,267,419 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Posted On |
2016-08-02 |
Incidental Mutation