Incidental Mutation 'R5592:Cysltr2'
ID |
437591 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cysltr2
|
Ensembl Gene |
ENSMUSG00000033470 |
Gene Name |
cysteinyl leukotriene receptor 2 |
Synonyms |
CysLT2, 2300001H05Rik, Cyslt2, CYSLT2R |
MMRRC Submission |
043144-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R5592 (G1)
|
Quality Score |
225 |
Status
|
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: 99.7%
- 10x: 98.8%
- 20x: 96.7%
|
Validation Efficiency |
100% (48/48) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630001G21Rik |
A |
T |
1: 85,654,332 (GRCm39) |
F2I |
probably damaging |
Het |
Adam17 |
C |
T |
12: 21,384,138 (GRCm39) |
S454N |
probably damaging |
Het |
Adcy1 |
A |
T |
11: 7,089,088 (GRCm39) |
K501* |
probably null |
Het |
Arhgap28 |
A |
T |
17: 68,165,267 (GRCm39) |
M543K |
probably damaging |
Het |
Art3 |
T |
A |
5: 92,540,679 (GRCm39) |
Y141N |
probably damaging |
Het |
Ccdc38 |
C |
T |
10: 93,386,064 (GRCm39) |
T60I |
possibly damaging |
Het |
Crmp1 |
A |
C |
5: 37,422,609 (GRCm39) |
I139L |
probably benign |
Het |
Cul9 |
G |
A |
17: 46,831,517 (GRCm39) |
L1566F |
probably benign |
Het |
Drd1 |
A |
T |
13: 54,208,190 (GRCm39) |
M1K |
probably null |
Het |
Flii |
T |
G |
11: 60,611,225 (GRCm39) |
M449L |
probably benign |
Het |
Galnt16 |
T |
C |
12: 80,635,293 (GRCm39) |
V343A |
probably damaging |
Het |
Gimap4 |
A |
T |
6: 48,668,092 (GRCm39) |
E154D |
probably damaging |
Het |
Glmp |
T |
G |
3: 88,233,333 (GRCm39) |
|
probably benign |
Het |
Glt1d1 |
A |
T |
5: 127,734,183 (GRCm39) |
D119V |
probably benign |
Het |
Gm5930 |
C |
T |
14: 44,568,886 (GRCm39) |
M245I |
probably benign |
Het |
Golgb1 |
T |
A |
16: 36,746,125 (GRCm39) |
H2901Q |
probably benign |
Het |
Krt12 |
C |
T |
11: 99,311,650 (GRCm39) |
V184I |
probably benign |
Het |
Lyst |
T |
G |
13: 13,917,918 (GRCm39) |
I3326S |
probably damaging |
Het |
Mier3 |
T |
A |
13: 111,843,195 (GRCm39) |
Y182* |
probably null |
Het |
Mlip |
G |
A |
9: 77,137,764 (GRCm39) |
S381L |
probably damaging |
Het |
Mmp25 |
A |
G |
17: 23,859,176 (GRCm39) |
V157A |
possibly damaging |
Het |
Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
Ms4a6c |
A |
G |
19: 11,458,496 (GRCm39) |
|
probably benign |
Het |
Ms4a6c |
A |
G |
19: 11,457,641 (GRCm39) |
|
probably benign |
Het |
Muc19 |
T |
C |
15: 91,828,199 (GRCm39) |
|
noncoding transcript |
Het |
Mucl3 |
T |
C |
17: 35,954,535 (GRCm39) |
Y9C |
probably damaging |
Het |
Mycbp2 |
C |
A |
14: 103,432,113 (GRCm39) |
M2308I |
probably benign |
Het |
Myo1a |
G |
T |
10: 127,549,908 (GRCm39) |
V463F |
probably damaging |
Het |
Ogdh |
A |
T |
11: 6,266,763 (GRCm39) |
|
probably null |
Het |
Or52h9 |
A |
T |
7: 104,202,938 (GRCm39) |
N271Y |
probably benign |
Het |
Or5l14 |
A |
G |
2: 87,792,684 (GRCm39) |
L184P |
probably damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Paip1 |
C |
A |
13: 119,587,334 (GRCm39) |
D124E |
probably damaging |
Het |
Pdcd11 |
T |
A |
19: 47,091,164 (GRCm39) |
N379K |
probably benign |
Het |
Pitpnm2 |
T |
C |
5: 124,280,212 (GRCm39) |
E112G |
probably damaging |
Het |
Prrg4 |
T |
C |
2: 104,663,123 (GRCm39) |
Y161C |
probably benign |
Het |
Rb1 |
A |
G |
14: 73,449,187 (GRCm39) |
Y648H |
probably damaging |
Het |
Rpa3 |
A |
T |
6: 8,257,694 (GRCm39) |
M56K |
probably benign |
Het |
Scarf1 |
A |
T |
11: 75,416,513 (GRCm39) |
T652S |
probably benign |
Het |
Slc16a5 |
A |
G |
11: 115,363,608 (GRCm39) |
K423R |
probably benign |
Het |
Sptan1 |
C |
T |
2: 29,876,731 (GRCm39) |
|
probably benign |
Het |
Ssrp1 |
T |
C |
2: 84,875,863 (GRCm39) |
I574T |
probably benign |
Het |
Synm |
A |
G |
7: 67,409,264 (GRCm39) |
L38P |
probably damaging |
Het |
Ubqln4 |
T |
G |
3: 88,464,171 (GRCm39) |
M224R |
probably damaging |
Het |
Uroc1 |
A |
G |
6: 90,332,326 (GRCm39) |
N561S |
probably damaging |
Het |
Vav1 |
A |
G |
17: 57,611,835 (GRCm39) |
Y483C |
probably benign |
Het |
Vps13a |
G |
A |
19: 16,702,935 (GRCm39) |
L673F |
probably damaging |
Het |
Zfp418 |
G |
T |
7: 7,184,314 (GRCm39) |
K92N |
possibly 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 |
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'- GCCTGCAGAACAGCTCCTTATAC -3'
(R):5'- TGCTACCTGCTGATCATCCG -3'
Sequencing Primer
(F):5'- TGTTCTTCAGCTACTCACAAACAGG -3'
(R):5'- CATCCGGATCTTGTTAAAGGC -3'
|
Posted On |
2016-10-26 |