Incidental Mutation 'IGL02155:Cyp2a5'
ID |
282191 |
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: 0.079)
|
Stock # |
IGL02155
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
26534764-26542689 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 26542471 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Tyrosine
at position 491
(F491Y)
|
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 benign
Transcript: ENSMUST00000005685
AA Change: F491Y
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000005685 Gene: ENSMUSG00000005547 AA Change: F491Y
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170631
|
SMART Domains |
Protein: ENSMUSP00000127829 Gene: ENSMUSG00000005547
Domain | Start | End | E-Value | Type |
Pfam:p450
|
1 |
59 |
2.9e-20 |
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aacs |
A |
G |
5: 125,583,350 (GRCm39) |
H302R |
probably null |
Het |
Abi3bp |
A |
T |
16: 56,408,327 (GRCm39) |
H254L |
probably damaging |
Het |
Adcy3 |
G |
A |
12: 4,262,142 (GRCm39) |
W1064* |
probably null |
Het |
Arvcf |
C |
T |
16: 18,222,650 (GRCm39) |
P70S |
probably damaging |
Het |
Ceacam3 |
A |
G |
7: 16,896,906 (GRCm39) |
D624G |
possibly damaging |
Het |
Cntrl |
T |
A |
2: 35,050,250 (GRCm39) |
|
probably benign |
Het |
Disp2 |
C |
T |
2: 118,622,285 (GRCm39) |
R1006C |
probably damaging |
Het |
Dnajc22 |
T |
C |
15: 98,998,886 (GRCm39) |
Y24H |
probably damaging |
Het |
Fat2 |
A |
G |
11: 55,153,245 (GRCm39) |
F3656L |
probably benign |
Het |
Fbxo31 |
A |
G |
8: 122,285,814 (GRCm39) |
F212S |
probably damaging |
Het |
Fsip2 |
T |
C |
2: 82,828,696 (GRCm39) |
M6831T |
probably benign |
Het |
Gpi1 |
G |
T |
7: 33,929,614 (GRCm39) |
Q9K |
possibly damaging |
Het |
Hmcn1 |
T |
A |
1: 150,439,349 (GRCm39) |
S5495C |
probably damaging |
Het |
Ift74 |
A |
G |
4: 94,567,488 (GRCm39) |
I394V |
probably benign |
Het |
Kcnh5 |
G |
A |
12: 75,223,312 (GRCm39) |
|
probably benign |
Het |
Lars2 |
A |
G |
9: 123,284,047 (GRCm39) |
D745G |
probably damaging |
Het |
Mitd1 |
T |
A |
1: 37,924,356 (GRCm39) |
I65F |
probably benign |
Het |
Mlxip |
T |
C |
5: 123,591,455 (GRCm39) |
M878T |
probably benign |
Het |
Mrgpra4 |
T |
C |
7: 47,631,292 (GRCm39) |
Y103C |
probably damaging |
Het |
Notch2 |
T |
C |
3: 98,045,806 (GRCm39) |
I1657T |
probably damaging |
Het |
Or5m11 |
T |
A |
2: 85,782,352 (GRCm39) |
M315K |
probably benign |
Het |
Orc1 |
T |
A |
4: 108,447,874 (GRCm39) |
D40E |
probably benign |
Het |
Rnf40 |
T |
C |
7: 127,189,888 (GRCm39) |
|
probably benign |
Het |
Ro60 |
C |
T |
1: 143,637,007 (GRCm39) |
|
probably null |
Het |
Sema4d |
A |
G |
13: 51,857,303 (GRCm39) |
V643A |
probably benign |
Het |
Taf7 |
A |
T |
18: 37,776,564 (GRCm39) |
M1K |
probably null |
Het |
Tnfsf10 |
A |
T |
3: 27,389,380 (GRCm39) |
D147V |
possibly damaging |
Het |
Usp45 |
T |
A |
4: 21,798,743 (GRCm39) |
|
probably null |
Het |
Wdr62 |
T |
C |
7: 29,962,068 (GRCm39) |
D2G |
probably damaging |
Het |
Zp2 |
T |
A |
7: 119,743,340 (GRCm39) |
I50F |
probably benign |
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 |
IGL03076:Cyp2a5
|
APN |
7 |
26,535,299 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
2015-04-16 |