Incidental Mutation 'R7338:Cyp2a5'
ID |
569644 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2a5
|
Ensembl Gene |
ENSMUSG00000005547 |
Gene Name |
cytochrome P450, family 2, subfamily a, polypeptide 5 |
Synonyms |
Coh |
MMRRC Submission |
045428-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.076)
|
Stock # |
R7338 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
26534764-26542689 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 26542372 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 458
(Q458L)
|
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: Q458L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000005685 Gene: ENSMUSG00000005547 AA Change: Q458L
Domain | Start | End | E-Value | Type |
transmembrane domain
|
5 |
24 |
N/A |
INTRINSIC |
Pfam:p450
|
34 |
491 |
4e-151 |
PFAM |
|
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 |
|
Meta Mutation Damage Score |
0.6329 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
98% (54/55) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
T |
C |
17: 24,595,717 (GRCm39) |
S357P |
possibly damaging |
Het |
Arhgap28 |
T |
C |
17: 68,203,106 (GRCm39) |
R166G |
probably damaging |
Het |
Bcan |
T |
A |
3: 87,901,550 (GRCm39) |
E384V |
probably damaging |
Het |
Bcl9l |
A |
G |
9: 44,420,005 (GRCm39) |
N1137S |
probably benign |
Het |
Caprin1 |
A |
G |
2: 103,609,768 (GRCm39) |
L170S |
probably benign |
Het |
Card6 |
C |
T |
15: 5,129,354 (GRCm39) |
E681K |
probably benign |
Het |
Catsperb |
G |
A |
12: 101,447,243 (GRCm39) |
V248I |
probably benign |
Het |
Ccnj |
T |
A |
19: 40,825,477 (GRCm39) |
H62Q |
probably damaging |
Het |
Cd180 |
A |
C |
13: 102,842,936 (GRCm39) |
I661L |
probably benign |
Het |
Cdk11b |
A |
G |
4: 155,732,008 (GRCm39) |
R473G |
unknown |
Het |
Cep126 |
T |
C |
9: 8,099,799 (GRCm39) |
T912A |
possibly damaging |
Het |
Chek2 |
T |
A |
5: 111,021,380 (GRCm39) |
V530E |
probably benign |
Het |
Chga |
G |
T |
12: 102,529,100 (GRCm39) |
S359I |
probably damaging |
Het |
Cnrip1 |
T |
C |
11: 17,004,657 (GRCm39) |
V69A |
probably damaging |
Het |
Cyp2j11 |
T |
A |
4: 96,195,524 (GRCm39) |
T391S |
possibly damaging |
Het |
Dhx16 |
T |
C |
17: 36,199,036 (GRCm39) |
L794P |
probably damaging |
Het |
Dscaml1 |
A |
G |
9: 45,585,802 (GRCm39) |
T580A |
probably benign |
Het |
Elmo1 |
A |
T |
13: 20,464,982 (GRCm39) |
I184L |
probably benign |
Het |
Gabra1 |
C |
T |
11: 42,073,121 (GRCm39) |
G51S |
unknown |
Het |
Gabrr3 |
C |
A |
16: 59,268,439 (GRCm39) |
L351I |
possibly damaging |
Het |
Gbp7 |
A |
T |
3: 142,243,786 (GRCm39) |
N111I |
probably damaging |
Het |
Gjd2 |
C |
T |
2: 113,841,583 (GRCm39) |
R298H |
probably damaging |
Het |
Gm5930 |
T |
C |
14: 44,573,914 (GRCm39) |
Y141C |
probably damaging |
Het |
Grin3a |
G |
T |
4: 49,771,238 (GRCm39) |
N511K |
probably benign |
Het |
Hdac7 |
T |
C |
15: 97,707,903 (GRCm39) |
D122G |
probably benign |
Het |
Ifi204 |
G |
A |
1: 173,587,703 (GRCm39) |
T152I |
possibly damaging |
Het |
Lrrc9 |
C |
T |
12: 72,510,305 (GRCm39) |
|
probably null |
Het |
Med21 |
T |
A |
6: 146,544,082 (GRCm39) |
|
probably benign |
Het |
Mmp19 |
A |
T |
10: 128,634,952 (GRCm39) |
T523S |
probably benign |
Het |
Nav3 |
G |
A |
10: 109,605,073 (GRCm39) |
T1000I |
probably benign |
Het |
Nherf2 |
T |
A |
17: 24,869,182 (GRCm39) |
|
probably benign |
Het |
Nin |
T |
C |
12: 70,090,838 (GRCm39) |
D859G |
|
Het |
Nip7 |
T |
G |
8: 107,783,916 (GRCm39) |
L52R |
possibly damaging |
Het |
Or10d1c |
A |
G |
9: 38,893,816 (GRCm39) |
Y175H |
probably damaging |
Het |
Or5al5 |
A |
T |
2: 85,961,726 (GRCm39) |
F94I |
probably damaging |
Het |
Or6b13 |
A |
T |
7: 139,782,446 (GRCm39) |
V79E |
probably benign |
Het |
Otop1 |
T |
A |
5: 38,457,547 (GRCm39) |
Y435* |
probably null |
Het |
Pak4 |
A |
G |
7: 28,264,381 (GRCm39) |
S174P |
probably benign |
Het |
Pcsk7 |
G |
A |
9: 45,837,287 (GRCm39) |
R537Q |
probably benign |
Het |
Podxl |
G |
A |
6: 31,505,941 (GRCm39) |
S34F |
unknown |
Het |
Prr36 |
G |
A |
8: 4,266,212 (GRCm39) |
R113C |
probably damaging |
Het |
Ptk7 |
T |
C |
17: 46,890,525 (GRCm39) |
I436V |
probably benign |
Het |
Slc13a5 |
C |
T |
11: 72,157,310 (GRCm39) |
V28I |
probably benign |
Het |
Slco6d1 |
A |
T |
1: 98,349,097 (GRCm39) |
D56V |
probably benign |
Het |
Spg11 |
G |
A |
2: 121,885,858 (GRCm39) |
R2317W |
probably damaging |
Het |
Stom |
T |
A |
2: 35,213,760 (GRCm39) |
|
probably null |
Het |
Svs5 |
T |
C |
2: 164,174,728 (GRCm39) |
L8P |
possibly damaging |
Het |
Tmem141 |
C |
A |
2: 25,511,626 (GRCm39) |
V39F |
probably damaging |
Het |
Tmprss6 |
A |
G |
15: 78,344,019 (GRCm39) |
L181P |
probably damaging |
Het |
Tnni3 |
A |
G |
7: 4,524,379 (GRCm39) |
S40P |
probably benign |
Het |
Tubgcp4 |
A |
G |
2: 121,024,465 (GRCm39) |
I548V |
probably benign |
Het |
Twf2 |
A |
G |
9: 106,081,138 (GRCm39) |
|
probably benign |
Het |
Wnt5b |
C |
A |
6: 119,425,092 (GRCm39) |
|
probably null |
Het |
Wrap73 |
A |
G |
4: 154,237,043 (GRCm39) |
D210G |
probably benign |
Het |
Yipf4 |
T |
G |
17: 74,796,771 (GRCm39) |
S21A |
probably benign |
Het |
Zscan20 |
A |
G |
4: 128,481,943 (GRCm39) |
M573T |
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 |
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 |
|
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'- TACAGCCTGGTGTGGATCAAAAC -3'
(R):5'- TCAACCCCTGACTTGTCTGG -3'
Sequencing Primer
(F):5'- AATGCTCAGGGATTAGAGCTTTCC -3'
(R):5'- GACTTGTCTGGTCTCAATCATTC -3'
|
Posted On |
2019-09-13 |