Incidental Mutation 'R7983:Cyp2a5'
| ID |
651317 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2a5
|
| Ensembl Gene |
ENSMUSG00000005547 |
| Gene Name |
cytochrome P450, family 2, subfamily a, polypeptide 5 |
| Synonyms |
Coh |
| MMRRC Submission |
046024-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R7983 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
26534764-26542689 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 26539866 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 305
(T305S)
|
| 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: T305S
PolyPhen 2
Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000005685
Gene: ENSMUSG00000005547
AA Change: T305S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
95% (39/41) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Casd1 |
G |
T |
6: 4,624,472 (GRCm39) |
E422* |
probably null |
Het |
| Ccdc7a |
T |
C |
8: 129,607,559 (GRCm39) |
T1007A |
possibly damaging |
Het |
| Cdr1 |
AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC |
AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC |
X: 60,228,130 (GRCm39) |
|
probably benign |
Het |
| Cds2 |
T |
G |
2: 132,105,430 (GRCm39) |
|
probably null |
Het |
| Cfap100 |
G |
A |
6: 90,392,687 (GRCm39) |
T141I |
|
Het |
| Chd7 |
T |
A |
4: 8,752,628 (GRCm39) |
M375K |
unknown |
Het |
| Chd7 |
T |
A |
4: 8,844,609 (GRCm39) |
S1573T |
possibly damaging |
Het |
| Cplane1 |
T |
A |
15: 8,251,299 (GRCm39) |
V1857E |
probably benign |
Het |
| Crybb2 |
T |
C |
5: 113,209,946 (GRCm39) |
E139G |
probably benign |
Het |
| Csn2 |
T |
C |
5: 87,842,356 (GRCm39) |
T224A |
probably benign |
Het |
| Csnk2b |
T |
C |
17: 35,335,304 (GRCm39) |
H231R |
possibly damaging |
Het |
| Cthrc1 |
A |
G |
15: 38,940,550 (GRCm39) |
D51G |
probably benign |
Het |
| Cyp4a29 |
A |
T |
4: 115,108,099 (GRCm39) |
D307V |
probably damaging |
Het |
| Dhrs7b |
T |
C |
11: 60,743,287 (GRCm39) |
V188A |
possibly damaging |
Het |
| Dna2 |
A |
G |
10: 62,791,173 (GRCm39) |
D224G |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,282,584 (GRCm39) |
L2906M |
probably damaging |
Het |
| Eif4g3 |
A |
T |
4: 137,878,904 (GRCm39) |
E545D |
probably benign |
Het |
| Foxq1 |
T |
C |
13: 31,743,972 (GRCm39) |
F358S |
possibly damaging |
Het |
| Galnt16 |
C |
T |
12: 80,648,598 (GRCm39) |
H557Y |
probably benign |
Het |
| Kcnb2 |
T |
C |
1: 15,383,004 (GRCm39) |
M110T |
probably damaging |
Het |
| Ldlrad4 |
G |
T |
18: 68,368,740 (GRCm39) |
A66S |
possibly damaging |
Het |
| Nalcn |
T |
C |
14: 123,830,409 (GRCm39) |
I144V |
probably benign |
Het |
| Napsa |
T |
A |
7: 44,234,751 (GRCm39) |
N295K |
possibly damaging |
Het |
| Nup50l |
C |
A |
6: 96,142,888 (GRCm39) |
G52V |
probably damaging |
Het |
| Or2ag20 |
T |
C |
7: 106,464,958 (GRCm39) |
V257A |
probably benign |
Het |
| Or5k1b |
G |
A |
16: 58,581,377 (GRCm39) |
S54F |
probably benign |
Het |
| Plch1 |
T |
C |
3: 63,615,164 (GRCm39) |
D778G |
probably damaging |
Het |
| Pnlip |
G |
A |
19: 58,668,491 (GRCm39) |
V361I |
probably benign |
Het |
| Pou4f2 |
G |
T |
8: 79,161,568 (GRCm39) |
A345E |
probably benign |
Het |
| Prr11 |
C |
T |
11: 86,982,637 (GRCm39) |
D365N |
possibly damaging |
Het |
| Ptprq |
G |
T |
10: 107,444,272 (GRCm39) |
S1444* |
probably null |
Het |
| R3hdm4 |
A |
T |
10: 79,748,557 (GRCm39) |
V129E |
probably damaging |
Het |
| Retnlg |
T |
C |
16: 48,693,261 (GRCm39) |
S13P |
probably damaging |
Het |
| Rgmb |
T |
C |
17: 16,041,189 (GRCm39) |
T133A |
possibly damaging |
Het |
| Rin3 |
A |
C |
12: 102,335,418 (GRCm39) |
H443P |
probably benign |
Het |
| Rnf152 |
T |
C |
1: 105,212,089 (GRCm39) |
D156G |
probably benign |
Het |
| Sfmbt1 |
A |
G |
14: 30,519,673 (GRCm39) |
|
probably null |
Het |
| Slc25a46 |
G |
A |
18: 31,716,483 (GRCm39) |
R340C |
probably damaging |
Het |
| Sp4 |
A |
T |
12: 118,264,967 (GRCm39) |
M1K |
probably null |
Het |
| Ss18l2 |
T |
C |
9: 121,541,675 (GRCm39) |
I64T |
probably damaging |
Het |
| Sult2a4 |
G |
A |
7: 13,649,152 (GRCm39) |
S219F |
probably damaging |
Het |
| Tnip3 |
A |
C |
6: 65,515,630 (GRCm39) |
D25A |
probably damaging |
Het |
| Trac |
A |
G |
14: 54,458,214 (GRCm39) |
T79A |
|
Het |
| Vmn2r36 |
A |
G |
7: 7,905,415 (GRCm39) |
L16P |
probably damaging |
Het |
| Zswim2 |
A |
G |
2: 83,753,911 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
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'- TCCACCTTAGGTCTAAGCCAAAG -3'
(R):5'- GTGGCTCTGTCTAGGTAAAGC -3'
Sequencing Primer
(F):5'- CCTTAGGTCTAAGCCAAAGAGAAGTG -3'
(R):5'- GGGAGTAACTAGTTATCTGAGAATCC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation