Incidental Mutation 'R7722:Cyp2a5'
| ID |
595279 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2a5
|
| Ensembl Gene |
ENSMUSG00000005547 |
| Gene Name |
cytochrome P450, family 2, subfamily a, polypeptide 5 |
| Synonyms |
Coh |
| MMRRC Submission |
045778-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R7722 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
26534764-26542689 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 26536543 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 174
(L174P)
|
| 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: L174P
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000005685
Gene: ENSMUSG00000005547
AA Change: L174P
| 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: 99.0%
|
| Validation Efficiency |
98% (57/58) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
A |
G |
17: 14,029,231 (GRCm39) |
E151G |
probably benign |
Het |
| Alpk2 |
A |
T |
18: 65,483,228 (GRCm39) |
L260H |
probably damaging |
Het |
| Amh |
T |
C |
10: 80,642,458 (GRCm39) |
V247A |
probably benign |
Het |
| Ank2 |
T |
A |
3: 126,822,951 (GRCm39) |
I431L |
probably benign |
Het |
| Ano7 |
G |
A |
1: 93,318,145 (GRCm39) |
A286T |
probably damaging |
Het |
| Atp8a1 |
T |
A |
5: 67,780,041 (GRCm39) |
|
probably null |
Het |
| Brd1 |
A |
T |
15: 88,613,762 (GRCm39) |
S378T |
probably damaging |
Het |
| Clrn1 |
T |
A |
3: 58,753,755 (GRCm39) |
N202I |
possibly damaging |
Het |
| Cspp1 |
T |
C |
1: 10,145,126 (GRCm39) |
V308A |
probably benign |
Het |
| Ehbp1 |
G |
A |
11: 22,039,572 (GRCm39) |
H843Y |
probably null |
Het |
| Fancm |
T |
A |
12: 65,153,235 (GRCm39) |
D1230E |
probably damaging |
Het |
| Fbxl17 |
A |
T |
17: 63,663,823 (GRCm39) |
N555K |
probably damaging |
Het |
| Fmnl2 |
A |
C |
2: 52,944,479 (GRCm39) |
S153R |
|
Het |
| Fras1 |
G |
A |
5: 96,917,413 (GRCm39) |
V3478M |
probably damaging |
Het |
| Gnptab |
T |
C |
10: 88,215,390 (GRCm39) |
F37S |
probably damaging |
Het |
| Gpr183 |
T |
G |
14: 122,192,270 (GRCm39) |
I84L |
probably damaging |
Het |
| Hcn1 |
A |
G |
13: 118,039,314 (GRCm39) |
H410R |
unknown |
Het |
| Hmcn1 |
A |
G |
1: 150,543,631 (GRCm39) |
V2848A |
probably damaging |
Het |
| Hmcn2 |
A |
T |
2: 31,272,512 (GRCm39) |
R1331* |
probably null |
Het |
| Hsd17b4 |
A |
C |
18: 50,279,591 (GRCm39) |
N190T |
probably damaging |
Het |
| Itprid2 |
T |
C |
2: 79,492,689 (GRCm39) |
S1079P |
probably damaging |
Het |
| Kif14 |
A |
G |
1: 136,396,033 (GRCm39) |
D113G |
probably benign |
Het |
| Kmt2e |
T |
G |
5: 23,702,016 (GRCm39) |
D881E |
probably benign |
Het |
| Lamb1 |
T |
A |
12: 31,373,570 (GRCm39) |
L1481Q |
probably damaging |
Het |
| Limk2 |
T |
C |
11: 3,306,092 (GRCm39) |
|
probably null |
Het |
| Luc7l2 |
T |
A |
6: 38,580,243 (GRCm39) |
S281T |
unknown |
Het |
| Map3k5 |
A |
G |
10: 20,007,891 (GRCm39) |
D1240G |
probably benign |
Het |
| Med13l |
C |
A |
5: 118,885,472 (GRCm39) |
T1475K |
probably benign |
Het |
| Med17 |
G |
T |
9: 15,182,987 (GRCm39) |
Q353K |
probably benign |
Het |
| Mlh3 |
A |
G |
12: 85,314,266 (GRCm39) |
V640A |
probably benign |
Het |
| Mms22l |
T |
A |
4: 24,517,201 (GRCm39) |
Y361N |
probably damaging |
Het |
| Mtmr2 |
T |
A |
9: 13,716,104 (GRCm39) |
N532K |
probably benign |
Het |
| Mtss1 |
G |
A |
15: 58,926,935 (GRCm39) |
T47I |
probably damaging |
Het |
| Mturn |
T |
C |
6: 54,676,545 (GRCm39) |
|
probably null |
Het |
| Muc20 |
A |
C |
16: 32,617,756 (GRCm39) |
S3A |
probably benign |
Het |
| Nde1 |
T |
C |
16: 14,008,128 (GRCm39) |
Y164H |
unknown |
Het |
| Neurl1b |
A |
G |
17: 26,660,132 (GRCm39) |
T451A |
probably benign |
Het |
| Or52u1 |
C |
A |
7: 104,237,505 (GRCm39) |
Q165K |
possibly damaging |
Het |
| Or8g18 |
A |
T |
9: 39,148,885 (GRCm39) |
Y278* |
probably null |
Het |
| Pgap3 |
G |
A |
11: 98,281,610 (GRCm39) |
A196V |
probably benign |
Het |
| Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Scart1 |
C |
A |
7: 139,802,299 (GRCm39) |
C209* |
probably null |
Het |
| Sdcbp |
T |
A |
4: 6,385,063 (GRCm39) |
V94E |
possibly damaging |
Het |
| Sgo2a |
T |
G |
1: 58,055,696 (GRCm39) |
F627V |
probably benign |
Het |
| Skor2 |
A |
C |
18: 76,950,339 (GRCm39) |
N889T |
probably benign |
Het |
| Slc35f4 |
A |
T |
14: 49,543,731 (GRCm39) |
N288K |
probably benign |
Het |
| Slc9b2 |
T |
A |
3: 135,035,596 (GRCm39) |
V355E |
probably null |
Het |
| Smarcc2 |
A |
G |
10: 128,317,597 (GRCm39) |
E566G |
possibly damaging |
Het |
| Sorcs2 |
T |
C |
5: 36,200,871 (GRCm39) |
E559G |
probably damaging |
Het |
| Sphkap |
T |
C |
1: 83,256,642 (GRCm39) |
D369G |
probably benign |
Het |
| Stc1 |
T |
A |
14: 69,269,729 (GRCm39) |
I103N |
possibly damaging |
Het |
| Stx8 |
T |
C |
11: 68,094,544 (GRCm39) |
V219A |
probably damaging |
Het |
| Tg |
C |
T |
15: 66,636,158 (GRCm39) |
R582C |
possibly damaging |
Het |
| Tshz2 |
T |
A |
2: 169,727,192 (GRCm39) |
L596Q |
probably benign |
Het |
| Tti1 |
A |
G |
2: 157,849,527 (GRCm39) |
Y571H |
probably benign |
Het |
| Zbtb40 |
A |
G |
4: 136,718,829 (GRCm39) |
I956T |
probably damaging |
Het |
| Zfp990 |
A |
C |
4: 145,263,532 (GRCm39) |
N177H |
possibly 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 |
|
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 |
|
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'- ACCTGCTGTGCGATCTAGTG -3'
(R):5'- TGACATTTGTTCTTGAGCAACC -3'
Sequencing Primer
(F):5'- GTCTGGGGATTTGGCTCAGC -3'
(R):5'- GTTCTTGAGCAACCTGTAGAGATAG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation