Incidental Mutation 'R4444:Cysltr2'
| ID |
329813 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4444 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
73263043-73286554 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 73267333 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 126
(H126Y)
|
| 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: H126Y
PolyPhen 2
Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000040715
Gene: ENSMUSG00000033470
AA Change: H126Y
| 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: H126Y
PolyPhen 2
Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000125958
Gene: ENSMUSG00000033470
AA Change: H126Y
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
G |
T |
7: 45,785,618 (GRCm39) |
T695N |
probably benign |
Het |
| Cdkl2 |
G |
A |
5: 92,168,168 (GRCm39) |
T342I |
probably benign |
Het |
| Cntn5 |
C |
A |
9: 9,704,947 (GRCm39) |
E822D |
probably damaging |
Het |
| Dlg2 |
T |
C |
7: 91,737,801 (GRCm39) |
S428P |
probably damaging |
Het |
| Egfr |
A |
G |
11: 16,821,027 (GRCm39) |
D314G |
probably benign |
Het |
| Ercc5 |
GAAAA |
GAAAAA |
1: 44,197,369 (GRCm39) |
|
probably null |
Het |
| Gemin4 |
A |
G |
11: 76,102,917 (GRCm39) |
F615L |
probably benign |
Het |
| Ggn |
A |
G |
7: 28,871,585 (GRCm39) |
T322A |
probably benign |
Het |
| Hunk |
C |
T |
16: 90,229,679 (GRCm39) |
A180V |
probably benign |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Myo1b |
A |
T |
1: 51,797,078 (GRCm39) |
I988N |
probably damaging |
Het |
| Nlrp4e |
A |
G |
7: 23,020,652 (GRCm39) |
I380V |
probably benign |
Het |
| Or2ag1b |
T |
A |
7: 106,288,353 (GRCm39) |
Y195F |
possibly damaging |
Het |
| Plb1 |
G |
A |
5: 32,487,909 (GRCm39) |
V930I |
probably benign |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Retreg1 |
T |
G |
15: 25,968,530 (GRCm39) |
|
probably null |
Het |
| Rnf13 |
A |
C |
3: 57,728,010 (GRCm39) |
K230T |
probably damaging |
Het |
| Rpl9-ps1 |
T |
C |
11: 83,536,207 (GRCm39) |
I81V |
possibly damaging |
Het |
| Slco1c1 |
A |
G |
6: 141,492,417 (GRCm39) |
T267A |
possibly damaging |
Het |
| Spc25 |
A |
T |
2: 69,035,220 (GRCm39) |
M47K |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,069,804 (GRCm39) |
E4377G |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,385,998 (GRCm39) |
T2142A |
probably damaging |
Het |
| Zc3h7a |
A |
G |
16: 10,968,457 (GRCm39) |
|
probably null |
Het |
| Zfp169 |
T |
A |
13: 48,643,813 (GRCm39) |
K438M |
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 |
|
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'- GCTACTGCAATGTGGTTCATG -3'
(R):5'- ATGTTTTCATGCTCAACCTGG -3'
Sequencing Primer
(F):5'- CTACTGCAATGTGGTTCATGATCAG -3'
(R):5'- CAACCTGGCCACTTCCG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation