Incidental Mutation 'R1223:Cysltr2'
| ID |
152814 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cysltr2
|
| Ensembl Gene |
ENSMUSG00000033470 |
| Gene Name |
cysteinyl leukotriene receptor 2 |
| Synonyms |
CysLT2, 2300001H05Rik, Cyslt2, CYSLT2R |
| MMRRC Submission |
039292-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R1223 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
73263043-73286554 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 73267539 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 57
(V57E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125958
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044664]
[ENSMUST00000169168]
|
| AlphaFold |
Q920A1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044664
AA Change: V57E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000040715
Gene: ENSMUSG00000033470
AA Change: V57E
| 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 |
probably damaging
Transcript: ENSMUST00000169168
AA Change: V57E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000125958
Gene: ENSMUSG00000033470
AA Change: V57E
| 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 |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.3%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy9 |
A |
T |
16: 4,116,612 (GRCm39) |
V873E |
probably damaging |
Het |
| Arl10 |
A |
G |
13: 54,726,744 (GRCm39) |
D174G |
probably damaging |
Het |
| Cd180 |
A |
T |
13: 102,842,730 (GRCm39) |
Y592F |
possibly damaging |
Het |
| Ces3a |
A |
T |
8: 105,784,661 (GRCm39) |
T548S |
probably benign |
Het |
| Chd2 |
T |
C |
7: 73,134,265 (GRCm39) |
E694G |
probably damaging |
Het |
| Commd3 |
T |
C |
2: 18,679,779 (GRCm39) |
Y163H |
probably benign |
Het |
| Cyp8b1 |
A |
G |
9: 121,744,070 (GRCm39) |
S421P |
possibly damaging |
Het |
| Ddx47 |
G |
A |
6: 134,989,277 (GRCm39) |
V34I |
possibly damaging |
Het |
| Dgkz |
T |
C |
2: 91,769,660 (GRCm39) |
|
probably benign |
Het |
| Dsg2 |
G |
T |
18: 20,706,550 (GRCm39) |
C22F |
probably benign |
Het |
| Gbp10 |
A |
C |
5: 105,366,867 (GRCm39) |
V455G |
probably damaging |
Het |
| Gm12185 |
T |
A |
11: 48,798,103 (GRCm39) |
I797F |
probably damaging |
Het |
| Katnip |
T |
A |
7: 125,359,595 (GRCm39) |
V62E |
possibly damaging |
Het |
| Lrrk2 |
A |
G |
15: 91,557,838 (GRCm39) |
E58G |
probably benign |
Het |
| Mrgprb1 |
A |
G |
7: 48,097,435 (GRCm39) |
V159A |
possibly damaging |
Het |
| Mybphl |
A |
G |
3: 108,282,512 (GRCm39) |
T182A |
possibly damaging |
Het |
| Or52e7 |
A |
T |
7: 104,684,773 (GRCm39) |
I123F |
probably benign |
Het |
| Or9m1 |
G |
A |
2: 87,733,163 (GRCm39) |
P286S |
probably damaging |
Het |
| Osr1 |
C |
T |
12: 9,629,699 (GRCm39) |
L191F |
probably damaging |
Het |
| Pip4k2b |
G |
A |
11: 97,609,720 (GRCm39) |
R406C |
probably damaging |
Het |
| Plce1 |
C |
T |
19: 38,690,457 (GRCm39) |
L714F |
probably damaging |
Het |
| Plce1 |
T |
C |
19: 38,755,670 (GRCm39) |
F1886S |
probably damaging |
Het |
| Ppp1cc |
A |
G |
5: 122,306,277 (GRCm39) |
E32G |
probably damaging |
Het |
| Rnh1 |
A |
G |
7: 140,743,120 (GRCm39) |
L260P |
probably damaging |
Het |
| Serpinb3a |
T |
A |
1: 106,975,282 (GRCm39) |
N175I |
probably damaging |
Het |
| Sptbn5 |
T |
A |
2: 119,902,525 (GRCm39) |
I68F |
probably damaging |
Het |
| Tas1r2 |
A |
T |
4: 139,387,515 (GRCm39) |
T325S |
probably damaging |
Het |
| Tcirg1 |
T |
C |
19: 3,948,733 (GRCm39) |
N484S |
probably benign |
Het |
| Tenm3 |
A |
T |
8: 48,693,431 (GRCm39) |
M1833K |
possibly damaging |
Het |
| Thoc5 |
A |
G |
11: 4,871,922 (GRCm39) |
E449G |
probably benign |
Het |
| Usp34 |
A |
G |
11: 23,396,464 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Cysltr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03211:Cysltr2
|
APN |
14 |
73,267,155 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGAGGAAGCCATGATGAAAACCC -3'
(R):5'- GCCTGATGTCTACCAAGGTCACAAG -3'
Sequencing Primer
(F):5'- ACTGGTGACATGGAACATCC -3'
(R):5'- GTGTCGGAAAAACTTGCTTCTC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation