Incidental Mutation 'R3968:Cysltr2'
ID |
312456 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cysltr2
|
Ensembl Gene |
ENSMUSG00000033470 |
Gene Name |
cysteinyl leukotriene receptor 2 |
Synonyms |
CysLT2, 2300001H05Rik, Cyslt2, CYSLT2R |
MMRRC Submission |
040936-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R3968 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
73263043-73286554 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 73267614 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 32
(I32T)
|
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: I32T
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000040715 Gene: ENSMUSG00000033470 AA Change: I32T
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: I32T
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000125958 Gene: ENSMUSG00000033470 AA Change: I32T
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 |
0.1986 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.1%
|
Validation Efficiency |
98% (40/41) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef12 |
C |
A |
9: 42,916,847 (GRCm39) |
R432L |
probably damaging |
Het |
Camk4 |
T |
A |
18: 33,312,634 (GRCm39) |
I258N |
possibly damaging |
Het |
Cdhr2 |
A |
T |
13: 54,874,271 (GRCm39) |
N781I |
probably damaging |
Het |
Cela1 |
C |
T |
15: 100,582,534 (GRCm39) |
G93S |
probably damaging |
Het |
Commd9 |
C |
A |
2: 101,727,486 (GRCm39) |
N93K |
probably benign |
Het |
E2f1 |
C |
G |
2: 154,405,942 (GRCm39) |
G144R |
probably damaging |
Het |
Fcho2 |
A |
T |
13: 98,871,564 (GRCm39) |
S551T |
probably benign |
Het |
Fzd8 |
T |
C |
18: 9,214,070 (GRCm39) |
V384A |
probably damaging |
Het |
Gm14401 |
T |
C |
2: 176,778,789 (GRCm39) |
Y292H |
possibly damaging |
Het |
H2-M2 |
C |
T |
17: 37,792,197 (GRCm39) |
G318S |
possibly damaging |
Het |
Il21r |
G |
T |
7: 125,227,215 (GRCm39) |
|
probably null |
Het |
Itgam |
T |
C |
7: 127,712,205 (GRCm39) |
Y697H |
probably damaging |
Het |
Itpkb |
A |
T |
1: 180,155,363 (GRCm39) |
|
probably benign |
Het |
Lama3 |
A |
T |
18: 12,713,398 (GRCm39) |
K3230M |
probably damaging |
Het |
Ly75 |
T |
C |
2: 60,158,217 (GRCm39) |
I1023V |
possibly damaging |
Het |
Narf |
A |
T |
11: 121,129,247 (GRCm39) |
E10D |
possibly damaging |
Het |
Net1 |
A |
G |
13: 3,957,795 (GRCm39) |
|
probably null |
Het |
Nlrx1 |
A |
T |
9: 44,166,722 (GRCm39) |
|
probably benign |
Het |
Oard1 |
T |
C |
17: 48,722,282 (GRCm39) |
Y93H |
probably damaging |
Het |
Or4n5 |
A |
T |
14: 50,132,983 (GRCm39) |
I92N |
probably damaging |
Het |
Or8b54 |
A |
G |
9: 38,686,664 (GRCm39) |
T38A |
probably benign |
Het |
Pcm1 |
T |
C |
8: 41,778,867 (GRCm39) |
L1825P |
probably damaging |
Het |
Pecr |
G |
A |
1: 72,315,468 (GRCm39) |
T94I |
probably damaging |
Het |
Piezo2 |
A |
T |
18: 63,144,767 (GRCm39) |
V2776E |
probably damaging |
Het |
Pik3r2 |
G |
A |
8: 71,223,065 (GRCm39) |
R452C |
probably benign |
Het |
Ppfia2 |
T |
A |
10: 106,742,382 (GRCm39) |
D1058E |
probably damaging |
Het |
Ppl |
T |
C |
16: 4,918,196 (GRCm39) |
|
probably null |
Het |
Rab39 |
G |
A |
9: 53,597,932 (GRCm39) |
A111V |
possibly damaging |
Het |
Sema3g |
T |
C |
14: 30,948,478 (GRCm39) |
|
probably null |
Het |
Slc19a1 |
T |
C |
10: 76,877,680 (GRCm39) |
Y72H |
probably damaging |
Het |
Sntb2 |
T |
A |
8: 107,723,772 (GRCm39) |
Y340* |
probably null |
Het |
Srrm4 |
A |
G |
5: 116,582,803 (GRCm39) |
|
probably benign |
Het |
Ssb |
C |
T |
2: 69,697,793 (GRCm39) |
|
probably benign |
Het |
Sval2 |
T |
A |
6: 41,838,861 (GRCm39) |
V14E |
probably damaging |
Het |
Tmc2 |
T |
G |
2: 130,043,991 (GRCm39) |
V75G |
probably benign |
Het |
Tnnc2 |
T |
C |
2: 164,619,457 (GRCm39) |
E129G |
possibly damaging |
Het |
Vmn2r94 |
C |
A |
17: 18,478,647 (GRCm39) |
Q33H |
possibly damaging |
Het |
Yap1 |
C |
T |
9: 7,973,877 (GRCm39) |
R188Q |
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 |
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'- ATGACTCTGCAGGCCAAGTC -3'
(R):5'- ACTGAGTACGGCAAATGTTTGATC -3'
Sequencing Primer
(F):5'- GCCAAGTCCCCAAATATCCAATTGG -3'
(R):5'- CGGCAAATGTTTGATCAGTAATCAGG -3'
|
Posted On |
2015-04-29 |