Incidental Mutation 'R3053:Cyp2a5'
ID |
265033 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2a5
|
Ensembl Gene |
ENSMUSG00000005547 |
Gene Name |
cytochrome P450, family 2, subfamily a, polypeptide 5 |
Synonyms |
Coh |
MMRRC Submission |
040562-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.076)
|
Stock # |
R3053 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
26534764-26542689 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 26542410 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 471
(I471V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000005685
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005685]
[ENSMUST00000168869]
[ENSMUST00000169007]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005685
AA Change: I471V
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000005685 Gene: ENSMUSG00000005547 AA Change: I471V
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 |
silent
Transcript: ENSMUST00000170631
|
SMART Domains |
Protein: ENSMUSP00000127829 Gene: ENSMUSG00000005547
Domain | Start | End | E-Value | Type |
Pfam:p450
|
1 |
59 |
2.9e-20 |
PFAM |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
100% (37/37) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy5 |
T |
C |
16: 35,124,086 (GRCm39) |
L1255P |
probably damaging |
Het |
Agl |
T |
A |
3: 116,584,682 (GRCm39) |
I213F |
probably damaging |
Het |
Arap2 |
A |
G |
5: 62,906,200 (GRCm39) |
V273A |
probably benign |
Het |
Asb18 |
T |
A |
1: 89,920,707 (GRCm39) |
H149L |
probably damaging |
Het |
Axdnd1 |
T |
C |
1: 156,169,440 (GRCm39) |
T809A |
probably damaging |
Het |
Bcl11b |
T |
C |
12: 107,882,260 (GRCm39) |
E613G |
probably benign |
Het |
Cibar1 |
G |
C |
4: 12,157,767 (GRCm39) |
|
probably null |
Het |
Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
Dmtf1 |
G |
T |
5: 9,179,316 (GRCm39) |
T206K |
probably damaging |
Het |
Dner |
G |
T |
1: 84,361,747 (GRCm39) |
Q621K |
probably damaging |
Het |
Gmppa |
A |
G |
1: 75,418,400 (GRCm39) |
Y261C |
probably benign |
Het |
Lama5 |
C |
T |
2: 179,824,860 (GRCm39) |
R2519K |
probably damaging |
Het |
Mical2 |
G |
T |
7: 111,910,630 (GRCm39) |
A267S |
probably damaging |
Het |
Nrxn3 |
A |
T |
12: 89,221,871 (GRCm39) |
D550V |
probably damaging |
Het |
Or1n1 |
T |
A |
2: 36,749,959 (GRCm39) |
M134L |
probably benign |
Het |
Pole |
A |
T |
5: 110,437,661 (GRCm39) |
D73V |
probably damaging |
Het |
Ppm1b |
G |
A |
17: 85,321,274 (GRCm39) |
R472K |
probably benign |
Het |
Ppm1m |
A |
G |
9: 106,075,874 (GRCm39) |
I18T |
probably benign |
Het |
Psg18 |
C |
T |
7: 18,083,118 (GRCm39) |
G225R |
probably damaging |
Het |
R3hcc1l |
T |
G |
19: 42,551,064 (GRCm39) |
Y20* |
probably null |
Het |
Rapgef1 |
T |
C |
2: 29,614,868 (GRCm39) |
I817T |
probably damaging |
Het |
Rasal3 |
T |
C |
17: 32,622,413 (GRCm39) |
E4G |
probably benign |
Het |
Ryr1 |
A |
T |
7: 28,752,515 (GRCm39) |
V3598E |
probably damaging |
Het |
Slc15a4 |
A |
T |
5: 127,673,746 (GRCm39) |
V556E |
possibly damaging |
Het |
Spats2l |
A |
G |
1: 57,939,925 (GRCm39) |
K193R |
probably damaging |
Het |
Tacc2 |
G |
A |
7: 130,227,226 (GRCm39) |
E1323K |
possibly damaging |
Het |
Tbc1d21 |
T |
A |
9: 58,270,352 (GRCm39) |
D141V |
probably damaging |
Het |
Tedc1 |
G |
T |
12: 113,120,087 (GRCm39) |
|
probably benign |
Het |
Terf2 |
A |
C |
8: 107,806,016 (GRCm39) |
L312R |
possibly damaging |
Het |
Tmem132d |
A |
C |
5: 127,869,538 (GRCm39) |
S599A |
probably benign |
Het |
Trp53bp2 |
T |
C |
1: 182,281,347 (GRCm39) |
F983L |
probably damaging |
Het |
Ubxn2a |
T |
A |
12: 4,941,322 (GRCm39) |
K95* |
probably null |
Het |
Ugt2a2 |
A |
T |
5: 87,622,328 (GRCm39) |
N213K |
probably damaging |
Het |
Xpo6 |
T |
C |
7: 125,703,893 (GRCm39) |
N1086D |
probably damaging |
Het |
Zbed5 |
A |
T |
5: 129,930,987 (GRCm39) |
H312L |
possibly damaging |
Het |
Zfp729b |
A |
G |
13: 67,741,585 (GRCm39) |
Y227H |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTCAGGGATTAGAGCTTTCC -3'
(R):5'- ATATCCTCTGCAAGTCTACTCTGTG -3'
Sequencing Primer
(F):5'- CTCAGGGATTAGAGCTTTCCTTAAAG -3'
(R):5'- GCAAGTCTACTCTGTGTCCTCTG -3'
|
Posted On |
2015-02-05 |