Incidental Mutation 'R5885:Cysltr2'
ID |
456056 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cysltr2
|
Ensembl Gene |
ENSMUSG00000033470 |
Gene Name |
cysteinyl leukotriene receptor 2 |
Synonyms |
CysLT2, 2300001H05Rik, Cyslt2, CYSLT2R |
MMRRC Submission |
043237-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
R5885 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
73263043-73286554 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 73266931 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 260
(K260E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125958
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044664]
[ENSMUST00000169168]
|
AlphaFold |
Q920A1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044664
AA Change: K260E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000040715 Gene: ENSMUSG00000033470 AA Change: K260E
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 benign
Transcript: ENSMUST00000169168
AA Change: K260E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000125958 Gene: ENSMUSG00000033470 AA Change: K260E
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.4%
- 20x: 91.8%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot10 |
T |
A |
15: 20,666,190 (GRCm39) |
M184L |
probably benign |
Het |
Adgrv1 |
A |
T |
13: 81,572,390 (GRCm39) |
S4924T |
probably benign |
Het |
Atp10a |
T |
A |
7: 58,463,548 (GRCm39) |
M1027K |
possibly damaging |
Het |
Axl |
T |
A |
7: 25,466,277 (GRCm39) |
K510I |
probably damaging |
Het |
Azi2 |
T |
A |
9: 117,876,628 (GRCm39) |
I48N |
probably damaging |
Het |
Dnah3 |
T |
C |
7: 119,668,927 (GRCm39) |
I720V |
probably benign |
Het |
Dnah8 |
C |
T |
17: 31,013,691 (GRCm39) |
P3811S |
probably damaging |
Het |
Epas1 |
A |
G |
17: 87,134,972 (GRCm39) |
D535G |
probably damaging |
Het |
Fam47e |
A |
G |
5: 92,713,827 (GRCm39) |
K152R |
probably damaging |
Het |
Fbxl3 |
A |
T |
14: 103,320,667 (GRCm39) |
I260K |
probably benign |
Het |
Fcgr3 |
A |
G |
1: 170,885,280 (GRCm39) |
V115A |
probably damaging |
Het |
Fgf12 |
G |
T |
16: 28,217,046 (GRCm39) |
D98E |
possibly damaging |
Het |
Flt3 |
T |
C |
5: 147,286,439 (GRCm39) |
T716A |
probably damaging |
Het |
Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
Gpr141b |
A |
T |
13: 19,913,519 (GRCm39) |
|
noncoding transcript |
Het |
Grin2a |
A |
G |
16: 9,579,769 (GRCm39) |
Y165H |
possibly damaging |
Het |
Ifna4 |
T |
A |
4: 88,760,599 (GRCm39) |
W168R |
probably damaging |
Het |
Itga11 |
A |
G |
9: 62,670,132 (GRCm39) |
Y752C |
probably damaging |
Het |
Khdrbs3 |
A |
G |
15: 68,896,547 (GRCm39) |
|
probably null |
Het |
Kif24 |
A |
T |
4: 41,423,463 (GRCm39) |
Y263N |
probably damaging |
Het |
Lama5 |
G |
T |
2: 179,843,624 (GRCm39) |
T441K |
probably damaging |
Het |
Lrrc47 |
T |
A |
4: 154,100,429 (GRCm39) |
V335D |
possibly damaging |
Het |
Map1b |
A |
T |
13: 99,566,589 (GRCm39) |
I2044N |
unknown |
Het |
Mast2 |
C |
T |
4: 116,172,035 (GRCm39) |
G638S |
probably damaging |
Het |
Myo9a |
T |
C |
9: 59,778,503 (GRCm39) |
S1420P |
probably benign |
Het |
Neurl2 |
T |
C |
2: 164,674,811 (GRCm39) |
T184A |
probably damaging |
Het |
Nfatc3 |
A |
G |
8: 106,822,944 (GRCm39) |
I577V |
probably benign |
Het |
Nipal3 |
A |
T |
4: 135,199,288 (GRCm39) |
V186E |
probably damaging |
Het |
Pgbd5 |
G |
A |
8: 125,111,205 (GRCm39) |
T162M |
probably damaging |
Het |
Plod2 |
T |
A |
9: 92,488,709 (GRCm39) |
|
probably null |
Het |
Psg22 |
T |
A |
7: 18,452,257 (GRCm39) |
L19Q |
probably damaging |
Het |
Psg27 |
T |
A |
7: 18,295,711 (GRCm39) |
N245Y |
probably damaging |
Het |
Ptprc |
T |
A |
1: 138,016,246 (GRCm39) |
I539F |
probably damaging |
Het |
Rad1 |
T |
C |
15: 10,488,143 (GRCm39) |
L59P |
probably damaging |
Het |
Slc2a9 |
G |
A |
5: 38,598,017 (GRCm39) |
R137W |
probably damaging |
Het |
Spats2l |
C |
T |
1: 57,985,321 (GRCm39) |
A458V |
probably damaging |
Het |
Sptbn5 |
A |
G |
2: 119,907,144 (GRCm39) |
|
probably benign |
Het |
Stox1 |
C |
A |
10: 62,500,627 (GRCm39) |
L644F |
probably damaging |
Het |
Sv2b |
C |
T |
7: 74,806,501 (GRCm39) |
G213E |
probably damaging |
Het |
Tas2r121 |
T |
G |
6: 132,677,254 (GRCm39) |
L239F |
probably damaging |
Het |
Trrap |
T |
A |
5: 144,731,603 (GRCm39) |
V854E |
probably damaging |
Het |
Vmn2r97 |
A |
G |
17: 19,168,035 (GRCm39) |
Y763C |
possibly damaging |
Het |
Xkr6 |
T |
A |
14: 63,844,360 (GRCm39) |
W128R |
probably damaging |
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 |
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 |
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'- AACAGGAAGGCTGCACTTTGAC -3'
(R):5'- CACATTGCAGTAGCGGTAGG -3'
Sequencing Primer
(F):5'- GAAGGCTGCACTTTGACTTTAATTTC -3'
(R):5'- GCGGTAGGCTTCTTGCTCC -3'
|
Posted On |
2017-02-15 |