Incidental Mutation 'IGL01354:Cyp2a5'
| ID |
75459 |
| 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 # |
IGL01354
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
26534764-26542689 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26536528 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 169
(D169G)
|
| 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: D169G
PolyPhen 2
Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000005685
Gene: ENSMUSG00000005547
AA Change: D169G
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l2 |
A |
G |
10: 83,363,240 (GRCm39) |
L41P |
probably damaging |
Het |
| Baz2b |
T |
C |
2: 59,799,233 (GRCm39) |
Q297R |
probably benign |
Het |
| Chl1 |
A |
T |
6: 103,642,814 (GRCm39) |
Q184L |
probably benign |
Het |
| Cyp2d34 |
G |
A |
15: 82,501,823 (GRCm39) |
T229M |
probably benign |
Het |
| Fgd5 |
C |
T |
6: 92,038,824 (GRCm39) |
R995* |
probably null |
Het |
| Gaa |
T |
C |
11: 119,161,394 (GRCm39) |
S146P |
probably benign |
Het |
| Gm11437 |
T |
A |
11: 84,058,144 (GRCm39) |
|
probably benign |
Het |
| Inpp5a |
T |
C |
7: 139,118,150 (GRCm39) |
F235L |
probably damaging |
Het |
| Lpp |
T |
A |
16: 24,580,816 (GRCm39) |
Y177* |
probably null |
Het |
| Malt1 |
A |
G |
18: 65,608,262 (GRCm39) |
Y654C |
probably damaging |
Het |
| Or2y10 |
T |
C |
11: 49,455,024 (GRCm39) |
I92T |
probably damaging |
Het |
| Or4k52 |
A |
C |
2: 111,611,246 (GRCm39) |
N194H |
possibly damaging |
Het |
| Or8b4 |
G |
A |
9: 37,830,840 (GRCm39) |
V301I |
possibly damaging |
Het |
| Otog |
A |
G |
7: 45,939,150 (GRCm39) |
N2060S |
probably damaging |
Het |
| Phc1 |
G |
A |
6: 122,311,042 (GRCm39) |
T98I |
probably damaging |
Het |
| Pik3cb |
A |
G |
9: 98,946,221 (GRCm39) |
I535T |
possibly damaging |
Het |
| Plxna2 |
A |
G |
1: 194,444,743 (GRCm39) |
I712V |
probably benign |
Het |
| Psmc2 |
A |
G |
5: 22,000,834 (GRCm39) |
E103G |
possibly damaging |
Het |
| Ptprb |
A |
G |
10: 116,179,796 (GRCm39) |
I1405V |
probably benign |
Het |
| Ralgapa1 |
T |
C |
12: 55,824,101 (GRCm39) |
N260D |
possibly damaging |
Het |
| Reln |
G |
A |
5: 22,124,173 (GRCm39) |
Q2778* |
probably null |
Het |
| Slco1a8 |
T |
C |
6: 141,936,134 (GRCm39) |
N317S |
probably benign |
Het |
| Sptlc1 |
T |
A |
13: 53,487,987 (GRCm39) |
Q452L |
probably benign |
Het |
| Traf4 |
C |
A |
11: 78,056,226 (GRCm39) |
R14L |
possibly damaging |
Het |
| Ubap2 |
T |
C |
4: 41,207,005 (GRCm39) |
E191G |
probably damaging |
Het |
| Vstm4 |
A |
T |
14: 32,641,202 (GRCm39) |
T262S |
probably benign |
Het |
| Zrsr2-ps1 |
T |
A |
11: 22,924,190 (GRCm39) |
H321Q |
probably damaging |
Het |
|
| Other mutations in Cyp2a5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-10-07 |
Incidental Mutation