Incidental Mutation 'R5867:Cyp2a5'
| ID |
454222 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2a5
|
| Ensembl Gene |
ENSMUSG00000005547 |
| Gene Name |
cytochrome P450, family 2, subfamily a, polypeptide 5 |
| Synonyms |
Coh |
| MMRRC Submission |
043233-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R5867 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
26534764-26542689 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 26542383 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 462
(F462L)
|
| 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: F462L
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000005685
Gene: ENSMUSG00000005547
AA Change: F462L
| 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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.3%
- 20x: 91.3%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
C |
19: 8,987,416 (GRCm39) |
V2900A |
probably damaging |
Het |
| Akip1 |
A |
G |
7: 109,306,684 (GRCm39) |
H127R |
probably benign |
Het |
| Alad |
A |
T |
4: 62,431,203 (GRCm39) |
Y56N |
probably damaging |
Het |
| Aldoart1 |
T |
A |
4: 72,770,770 (GRCm39) |
M13L |
probably benign |
Het |
| Ap1g1 |
C |
T |
8: 110,545,614 (GRCm39) |
A89V |
probably damaging |
Het |
| Ascc3 |
C |
T |
10: 50,718,279 (GRCm39) |
R1991* |
probably null |
Het |
| Cd209b |
T |
C |
8: 3,974,246 (GRCm39) |
I89V |
possibly damaging |
Het |
| Cd36 |
T |
C |
5: 17,990,733 (GRCm39) |
K469R |
probably benign |
Het |
| Cdh20 |
T |
A |
1: 109,976,581 (GRCm39) |
I82N |
probably damaging |
Het |
| Clmn |
G |
T |
12: 104,748,014 (GRCm39) |
P511H |
probably damaging |
Het |
| Cyfip1 |
A |
C |
7: 55,576,061 (GRCm39) |
D1077A |
probably damaging |
Het |
| Dclk2 |
A |
G |
3: 86,699,166 (GRCm39) |
*709Q |
probably null |
Het |
| Drd1 |
T |
C |
13: 54,208,182 (GRCm39) |
T4A |
probably benign |
Het |
| Ephb2 |
C |
T |
4: 136,402,733 (GRCm39) |
V513I |
possibly damaging |
Het |
| Fam43a |
T |
A |
16: 30,420,277 (GRCm39) |
V287E |
probably benign |
Het |
| Gm5134 |
A |
G |
10: 75,844,450 (GRCm39) |
E602G |
probably benign |
Het |
| Gtsf2 |
C |
T |
15: 103,348,063 (GRCm39) |
G149E |
probably benign |
Het |
| Kif20a |
G |
A |
18: 34,765,468 (GRCm39) |
A822T |
probably benign |
Het |
| Klhl6 |
T |
C |
16: 19,801,570 (GRCm39) |
T62A |
probably benign |
Het |
| Lamb1 |
T |
A |
12: 31,348,954 (GRCm39) |
I662N |
possibly damaging |
Het |
| Lmod3 |
A |
G |
6: 97,224,963 (GRCm39) |
V286A |
probably damaging |
Het |
| Mefv |
T |
C |
16: 3,533,797 (GRCm39) |
D158G |
probably damaging |
Het |
| Mff |
T |
C |
1: 82,728,327 (GRCm39) |
|
probably null |
Het |
| Mfsd6l |
G |
T |
11: 68,448,036 (GRCm39) |
V296L |
possibly damaging |
Het |
| Neu2 |
G |
T |
1: 87,524,478 (GRCm39) |
Q154H |
probably damaging |
Het |
| Or5m3b |
A |
G |
2: 85,871,795 (GRCm39) |
I45M |
probably benign |
Het |
| Pdk4 |
T |
A |
6: 5,487,452 (GRCm39) |
H266L |
probably benign |
Het |
| Pdrg1 |
T |
C |
2: 152,855,975 (GRCm39) |
N40D |
probably damaging |
Het |
| Pi4k2a |
T |
C |
19: 42,093,924 (GRCm39) |
|
probably null |
Het |
| Pkd1l2 |
T |
A |
8: 117,781,750 (GRCm39) |
D765V |
probably damaging |
Het |
| Pspc1 |
A |
T |
14: 56,999,498 (GRCm39) |
|
probably null |
Het |
| Ptprm |
T |
C |
17: 67,352,976 (GRCm39) |
|
probably null |
Het |
| Spata31d1d |
T |
C |
13: 59,875,054 (GRCm39) |
K827R |
possibly damaging |
Het |
| Srebf2 |
T |
A |
15: 82,053,987 (GRCm39) |
F46Y |
probably damaging |
Het |
| Tfrc |
T |
A |
16: 32,439,230 (GRCm39) |
C365S |
possibly damaging |
Het |
| Ttc7 |
A |
G |
17: 87,629,900 (GRCm39) |
H294R |
possibly damaging |
Het |
| Ubr7 |
T |
A |
12: 102,727,753 (GRCm39) |
Y92N |
probably damaging |
Het |
| Vmn1r42 |
A |
C |
6: 89,821,761 (GRCm39) |
Y269* |
probably null |
Het |
| Vmn2r1 |
A |
G |
3: 64,011,990 (GRCm39) |
E617G |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,889,904 (GRCm39) |
|
probably null |
Het |
| Vps50 |
T |
C |
6: 3,536,965 (GRCm39) |
L312P |
probably damaging |
Het |
| Wdr82 |
A |
G |
9: 106,062,503 (GRCm39) |
Q252R |
probably benign |
Het |
| Zcchc3 |
A |
G |
2: 152,256,444 (GRCm39) |
F85S |
probably damaging |
Het |
| Zfhx3 |
T |
C |
8: 109,520,078 (GRCm39) |
L400P |
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 |
|
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 |
|
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'- TGCTCAGGGATTAGAGCTTTCC -3'
(R):5'- ATATCCTCTGCAAGTCTACTCTGTG -3'
Sequencing Primer
(F):5'- CTCAGGGATTAGAGCTTTCCTTAAAG -3'
(R):5'- GCAAGTCTACTCTGTGTCCTCTG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation