Incidental Mutation 'R2858:Cyp2a22'
ID |
252562 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2a22
|
Ensembl Gene |
ENSMUSG00000091867 |
Gene Name |
cytochrome P450, family 2, subfamily a, polypeptide 22 |
Synonyms |
EG233005 |
MMRRC Submission |
040448-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.082)
|
Stock # |
R2858 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
26631056-26638809 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 26633687 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 341
(Y341C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128030
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170227]
|
AlphaFold |
B2RXZ2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000170227
AA Change: Y341C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000128030 Gene: ENSMUSG00000091867 AA Change: Y341C
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
Pfam:p450
|
33 |
489 |
7.4e-148 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206638
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206957
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
Validation Efficiency |
100% (37/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700028K03Rik |
T |
A |
5: 107,693,667 (GRCm39) |
F95I |
probably benign |
Het |
Abcg5 |
A |
G |
17: 84,977,648 (GRCm39) |
|
probably null |
Het |
Amfr |
A |
T |
8: 94,731,842 (GRCm39) |
N11K |
probably damaging |
Het |
Bltp3a |
G |
T |
17: 28,104,436 (GRCm39) |
R494L |
probably damaging |
Het |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Cdh23 |
C |
T |
10: 60,218,432 (GRCm39) |
|
probably null |
Het |
Chd4 |
A |
G |
6: 125,081,849 (GRCm39) |
K481R |
probably damaging |
Het |
Ddb2 |
T |
C |
2: 91,047,022 (GRCm39) |
T338A |
probably damaging |
Het |
Fat2 |
A |
G |
11: 55,174,599 (GRCm39) |
V2038A |
possibly damaging |
Het |
Fbxo36 |
A |
G |
1: 84,874,316 (GRCm39) |
K104R |
probably benign |
Het |
Fmo9 |
A |
C |
1: 166,501,236 (GRCm39) |
F237C |
probably damaging |
Het |
Helz |
G |
A |
11: 107,563,753 (GRCm39) |
|
probably benign |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Ifit1bl1 |
A |
T |
19: 34,571,722 (GRCm39) |
I245K |
probably benign |
Het |
Ighv1-22 |
T |
C |
12: 114,709,918 (GRCm39) |
D109G |
probably damaging |
Het |
Kcnk10 |
T |
C |
12: 98,401,548 (GRCm39) |
R376G |
possibly damaging |
Het |
Lrrc66 |
T |
A |
5: 73,764,646 (GRCm39) |
E799V |
probably benign |
Het |
Lrrc7 |
T |
A |
3: 157,867,362 (GRCm39) |
N793I |
probably damaging |
Het |
Nexn |
C |
T |
3: 151,953,680 (GRCm39) |
E247K |
probably damaging |
Het |
Ntmt1 |
A |
G |
2: 30,712,377 (GRCm39) |
H140R |
probably damaging |
Het |
Or11g27 |
T |
A |
14: 50,770,897 (GRCm39) |
N9K |
probably benign |
Het |
Or3a10 |
C |
T |
11: 73,935,653 (GRCm39) |
G149D |
possibly damaging |
Het |
Or9e1 |
T |
A |
11: 58,732,708 (GRCm39) |
V256E |
probably benign |
Het |
Pask |
A |
G |
1: 93,249,373 (GRCm39) |
Y676H |
probably benign |
Het |
Polq |
T |
A |
16: 36,883,115 (GRCm39) |
F1760I |
possibly damaging |
Het |
Ppp1r1b |
T |
C |
11: 98,246,145 (GRCm39) |
|
probably benign |
Het |
Psmf1 |
A |
G |
2: 151,571,456 (GRCm39) |
L169P |
probably damaging |
Het |
Rcbtb1 |
T |
A |
14: 59,458,861 (GRCm39) |
|
probably null |
Het |
S1pr4 |
C |
A |
10: 81,335,073 (GRCm39) |
A134S |
probably damaging |
Het |
Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
Slc24a1 |
T |
C |
9: 64,856,614 (GRCm39) |
I98V |
unknown |
Het |
Slc6a21 |
G |
A |
7: 44,929,952 (GRCm39) |
A147T |
possibly damaging |
Het |
Sycp3 |
A |
G |
10: 88,303,234 (GRCm39) |
E166G |
probably damaging |
Het |
Vmn2r82 |
T |
A |
10: 79,217,090 (GRCm39) |
I474N |
probably damaging |
Het |
Zfp1007 |
T |
C |
5: 109,823,819 (GRCm39) |
T544A |
probably benign |
Het |
|
Other mutations in Cyp2a22 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00156:Cyp2a22
|
APN |
7 |
26,637,163 (GRCm39) |
missense |
probably benign |
0.09 |
IGL01111:Cyp2a22
|
APN |
7 |
26,635,883 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01388:Cyp2a22
|
APN |
7 |
26,637,217 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01449:Cyp2a22
|
APN |
7 |
26,632,978 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01642:Cyp2a22
|
APN |
7 |
26,638,184 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL02253:Cyp2a22
|
APN |
7 |
26,637,662 (GRCm39) |
splice site |
probably benign |
|
IGL02327:Cyp2a22
|
APN |
7 |
26,634,206 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02673:Cyp2a22
|
APN |
7 |
26,637,525 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02813:Cyp2a22
|
APN |
7 |
26,635,859 (GRCm39) |
missense |
probably benign |
0.19 |
IGL02896:Cyp2a22
|
APN |
7 |
26,635,886 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03193:Cyp2a22
|
APN |
7 |
26,635,846 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03350:Cyp2a22
|
APN |
7 |
26,634,279 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1648:Cyp2a22
|
UTSW |
7 |
26,631,793 (GRCm39) |
missense |
probably damaging |
0.98 |
R1679:Cyp2a22
|
UTSW |
7 |
26,635,736 (GRCm39) |
nonsense |
probably null |
|
R1733:Cyp2a22
|
UTSW |
7 |
26,634,187 (GRCm39) |
missense |
possibly damaging |
0.78 |
R2001:Cyp2a22
|
UTSW |
7 |
26,634,197 (GRCm39) |
missense |
probably damaging |
1.00 |
R3054:Cyp2a22
|
UTSW |
7 |
26,638,254 (GRCm39) |
missense |
probably damaging |
1.00 |
R4528:Cyp2a22
|
UTSW |
7 |
26,634,194 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4623:Cyp2a22
|
UTSW |
7 |
26,632,916 (GRCm39) |
missense |
probably damaging |
1.00 |
R4669:Cyp2a22
|
UTSW |
7 |
26,637,280 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4690:Cyp2a22
|
UTSW |
7 |
26,638,634 (GRCm39) |
nonsense |
probably null |
|
R4840:Cyp2a22
|
UTSW |
7 |
26,631,949 (GRCm39) |
missense |
probably benign |
0.13 |
R4915:Cyp2a22
|
UTSW |
7 |
26,637,195 (GRCm39) |
missense |
probably benign |
0.33 |
R5071:Cyp2a22
|
UTSW |
7 |
26,631,906 (GRCm39) |
missense |
probably benign |
0.01 |
R5072:Cyp2a22
|
UTSW |
7 |
26,631,906 (GRCm39) |
missense |
probably benign |
0.01 |
R5074:Cyp2a22
|
UTSW |
7 |
26,631,906 (GRCm39) |
missense |
probably benign |
0.01 |
R5147:Cyp2a22
|
UTSW |
7 |
26,635,750 (GRCm39) |
missense |
probably damaging |
1.00 |
R5363:Cyp2a22
|
UTSW |
7 |
26,635,858 (GRCm39) |
missense |
probably damaging |
0.99 |
R5705:Cyp2a22
|
UTSW |
7 |
26,638,640 (GRCm39) |
missense |
probably benign |
0.05 |
R6014:Cyp2a22
|
UTSW |
7 |
26,638,605 (GRCm39) |
splice site |
probably null |
|
R6042:Cyp2a22
|
UTSW |
7 |
26,633,664 (GRCm39) |
missense |
probably damaging |
1.00 |
R6253:Cyp2a22
|
UTSW |
7 |
26,633,657 (GRCm39) |
missense |
probably benign |
0.18 |
R6757:Cyp2a22
|
UTSW |
7 |
26,638,629 (GRCm39) |
missense |
probably benign |
0.00 |
R6994:Cyp2a22
|
UTSW |
7 |
26,638,606 (GRCm39) |
critical splice donor site |
probably null |
|
R7581:Cyp2a22
|
UTSW |
7 |
26,637,573 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8212:Cyp2a22
|
UTSW |
7 |
26,637,205 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9225:Cyp2a22
|
UTSW |
7 |
26,637,202 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9749:Cyp2a22
|
UTSW |
7 |
26,638,715 (GRCm39) |
missense |
probably null |
0.41 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTGGTGAGGCTGACATAGTAG -3'
(R):5'- CAATGGCCTATATGCATGTCAC -3'
Sequencing Primer
(F):5'- CTGTAGATGGAAAGGGGCCCTG -3'
(R):5'- GGCCTATATGCATGTCACTTACAGAG -3'
|
Posted On |
2014-12-04 |