Incidental Mutation 'IGL03076:Cyp2a5'
| ID |
417677 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cyp2a5
|
| Ensembl Gene |
ENSMUSG00000005547 |
| Gene Name |
cytochrome P450, family 2, subfamily a, polypeptide 5 |
| Synonyms |
Coh |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
IGL03076
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
26534764-26542689 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 26535299 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 87
(V87A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005685
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005685]
[ENSMUST00000168869]
[ENSMUST00000169007]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005685
AA Change: V87A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000005685
Gene: ENSMUSG00000005547
AA Change: V87A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
24 |
N/A |
INTRINSIC |
|
Pfam:p450
|
34 |
491 |
4e-151 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165641
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168869
|
| SMART Domains |
Protein: ENSMUSP00000130640
Gene: ENSMUSG00000005547
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
24 |
N/A |
INTRINSIC |
|
PDB:2PG7|D
|
25 |
60 |
9e-14 |
PDB |
|
SCOP:d1jpza_
|
30 |
60 |
6e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169007
|
| SMART Domains |
Protein: ENSMUSP00000128865
Gene: ENSMUSG00000005547
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
1 |
116 |
1.1e-47 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankmy2 |
T |
C |
12: 36,215,917 (GRCm39) |
V39A |
probably damaging |
Het |
| Bcl2 |
A |
G |
1: 106,471,037 (GRCm39) |
V223A |
probably benign |
Het |
| Bsn |
T |
A |
9: 107,982,581 (GRCm39) |
Y3724F |
unknown |
Het |
| Chd8 |
T |
C |
14: 52,463,619 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
T |
C |
5: 124,807,226 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
C |
T |
12: 110,624,327 (GRCm39) |
R3652W |
probably damaging |
Het |
| Epha5 |
T |
A |
5: 84,479,549 (GRCm39) |
T152S |
probably damaging |
Het |
| Flnb |
T |
G |
14: 7,901,988 (GRCm38) |
N950K |
probably benign |
Het |
| Fmn1 |
A |
G |
2: 113,414,437 (GRCm39) |
D1128G |
probably damaging |
Het |
| Fndc3a |
T |
A |
14: 72,793,908 (GRCm39) |
T922S |
possibly damaging |
Het |
| Fsip2 |
A |
T |
2: 82,812,482 (GRCm39) |
N2934Y |
possibly damaging |
Het |
| Gnptab |
T |
C |
10: 88,276,151 (GRCm39) |
V1146A |
possibly damaging |
Het |
| Gsg1l |
A |
G |
7: 125,522,665 (GRCm39) |
F188L |
probably benign |
Het |
| Kmt2c |
C |
A |
5: 25,504,149 (GRCm39) |
E309* |
probably null |
Het |
| Krt71 |
C |
T |
15: 101,643,032 (GRCm39) |
R492H |
probably benign |
Het |
| Lama1 |
T |
A |
17: 68,023,794 (GRCm39) |
V63E |
possibly damaging |
Het |
| Lrch3 |
T |
C |
16: 32,802,223 (GRCm39) |
V58A |
possibly damaging |
Het |
| Lrrc8b |
T |
A |
5: 105,629,415 (GRCm39) |
L587Q |
probably damaging |
Het |
| Lrrtm1 |
T |
C |
6: 77,221,568 (GRCm39) |
C342R |
probably damaging |
Het |
| Mdm1 |
T |
C |
10: 117,995,588 (GRCm39) |
S541P |
possibly damaging |
Het |
| Mdn1 |
T |
A |
4: 32,735,564 (GRCm39) |
V3410D |
probably damaging |
Het |
| Neb |
G |
A |
2: 52,059,100 (GRCm39) |
H213Y |
probably damaging |
Het |
| Or52p2 |
A |
T |
7: 102,237,679 (GRCm39) |
N90K |
probably benign |
Het |
| Or7e175 |
T |
C |
9: 20,049,023 (GRCm39) |
S204P |
probably benign |
Het |
| Pigt |
A |
G |
2: 164,339,585 (GRCm39) |
E36G |
probably damaging |
Het |
| Plxnb1 |
T |
A |
9: 108,935,970 (GRCm39) |
V1120D |
probably damaging |
Het |
| Rapgef6 |
T |
C |
11: 54,516,793 (GRCm39) |
L350P |
probably damaging |
Het |
| Rasgef1c |
C |
A |
11: 49,861,073 (GRCm39) |
T302K |
probably damaging |
Het |
| Riox2 |
C |
A |
16: 59,311,575 (GRCm39) |
A386D |
possibly damaging |
Het |
| Semp2l1 |
A |
G |
1: 32,584,626 (GRCm39) |
I428T |
probably damaging |
Het |
| Slc12a2 |
T |
C |
18: 58,059,469 (GRCm39) |
|
probably benign |
Het |
| Trim24 |
T |
A |
6: 37,942,567 (GRCm39) |
S992R |
probably damaging |
Het |
| Trpc3 |
T |
C |
3: 36,694,804 (GRCm39) |
N717D |
probably damaging |
Het |
| Vwa5b1 |
T |
C |
4: 138,327,499 (GRCm39) |
D359G |
probably damaging |
Het |
| Wapl |
A |
G |
14: 34,414,046 (GRCm39) |
T303A |
probably benign |
Het |
| Zfp128 |
A |
G |
7: 12,618,636 (GRCm39) |
T45A |
possibly damaging |
Het |
| Zfp280d |
T |
C |
9: 72,219,944 (GRCm39) |
S240P |
probably damaging |
Het |
|
| Other mutations in Cyp2a5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01354:Cyp2a5
|
APN |
7 |
26,536,528 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01744:Cyp2a5
|
APN |
7 |
26,540,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02155:Cyp2a5
|
APN |
7 |
26,542,471 (GRCm39) |
missense |
probably benign |
0.06 |
|
PIT4696001:Cyp2a5
|
UTSW |
7 |
26,540,404 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0762:Cyp2a5
|
UTSW |
7 |
26,538,298 (GRCm39) |
nonsense |
probably null |
|
|
R0980:Cyp2a5
|
UTSW |
7 |
26,538,431 (GRCm39) |
splice site |
probably null |
|
|
R1078:Cyp2a5
|
UTSW |
7 |
26,534,966 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1511:Cyp2a5
|
UTSW |
7 |
26,535,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1780:Cyp2a5
|
UTSW |
7 |
26,541,301 (GRCm39) |
intron |
probably benign |
|
|
R1803:Cyp2a5
|
UTSW |
7 |
26,534,971 (GRCm39) |
splice site |
probably null |
|
|
R1899:Cyp2a5
|
UTSW |
7 |
26,538,458 (GRCm39) |
nonsense |
probably null |
|
|
R1977:Cyp2a5
|
UTSW |
7 |
26,535,347 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2215:Cyp2a5
|
UTSW |
7 |
26,539,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2258:Cyp2a5
|
UTSW |
7 |
26,536,528 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R3051:Cyp2a5
|
UTSW |
7 |
26,542,410 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R3052:Cyp2a5
|
UTSW |
7 |
26,542,410 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R3053:Cyp2a5
|
UTSW |
7 |
26,542,410 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4387:Cyp2a5
|
UTSW |
7 |
26,540,479 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4832:Cyp2a5
|
UTSW |
7 |
26,534,970 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5054:Cyp2a5
|
UTSW |
7 |
26,540,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5622:Cyp2a5
|
UTSW |
7 |
26,535,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5867:Cyp2a5
|
UTSW |
7 |
26,542,383 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5998:Cyp2a5
|
UTSW |
7 |
26,536,578 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6186:Cyp2a5
|
UTSW |
7 |
26,542,813 (GRCm39) |
unclassified |
probably benign |
|
|
R7338:Cyp2a5
|
UTSW |
7 |
26,542,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7350:Cyp2a5
|
UTSW |
7 |
26,536,208 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7536:Cyp2a5
|
UTSW |
7 |
26,539,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7722:Cyp2a5
|
UTSW |
7 |
26,536,543 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7831:Cyp2a5
|
UTSW |
7 |
26,534,940 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7983:Cyp2a5
|
UTSW |
7 |
26,539,866 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8805:Cyp2a5
|
UTSW |
7 |
26,540,530 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9378:Cyp2a5
|
UTSW |
7 |
26,539,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9481:Cyp2a5
|
UTSW |
7 |
26,540,511 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9620:Cyp2a5
|
UTSW |
7 |
26,536,636 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
Z1088:Cyp2a5
|
UTSW |
7 |
26,540,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Cyp2a5
|
UTSW |
7 |
26,536,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Cyp2a5
|
UTSW |
7 |
26,534,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation