Incidental Mutation 'R8212:Cyp2a22'
ID |
636208 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2a22
|
Ensembl Gene |
ENSMUSG00000091867 |
Gene Name |
cytochrome P450, family 2, subfamily a, polypeptide 22 |
Synonyms |
EG233005 |
MMRRC Submission |
067635-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.082)
|
Stock # |
R8212 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
26631056-26638809 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 26637205 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 193
(E193G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128030
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170227]
|
AlphaFold |
B2RXZ2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170227
AA Change: E193G
PolyPhen 2
Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000128030 Gene: ENSMUSG00000091867 AA Change: E193G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
Pfam:p450
|
33 |
489 |
7.4e-148 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
Validation Efficiency |
97% (37/38) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
T |
C |
13: 81,670,240 (GRCm39) |
I2369V |
probably benign |
Het |
Ager |
G |
A |
17: 34,819,586 (GRCm39) |
R368H |
possibly damaging |
Het |
Arl2 |
G |
T |
19: 6,187,596 (GRCm39) |
T84K |
probably damaging |
Het |
Cfap126 |
A |
T |
1: 170,953,630 (GRCm39) |
T67S |
probably damaging |
Het |
Cfap45 |
A |
G |
1: 172,369,067 (GRCm39) |
|
probably null |
Het |
Cfdp1 |
A |
T |
8: 112,571,815 (GRCm39) |
N31K |
probably damaging |
Het |
Clpx |
A |
G |
9: 65,228,173 (GRCm39) |
T408A |
possibly damaging |
Het |
Cobll1 |
T |
C |
2: 64,932,424 (GRCm39) |
N526S |
probably benign |
Het |
Cpne1 |
T |
C |
2: 155,920,134 (GRCm39) |
D215G |
probably damaging |
Het |
Cstf1 |
T |
C |
2: 172,219,872 (GRCm39) |
S328P |
probably damaging |
Het |
Fam83c |
A |
G |
2: 155,671,207 (GRCm39) |
F743L |
probably benign |
Het |
Fn1 |
A |
G |
1: 71,682,064 (GRCm39) |
I364T |
probably benign |
Het |
Foxo3 |
T |
C |
10: 42,072,991 (GRCm39) |
M509V |
possibly damaging |
Het |
Galnt6 |
T |
C |
15: 100,591,308 (GRCm39) |
T599A |
probably benign |
Het |
Gm5114 |
A |
G |
7: 39,060,676 (GRCm39) |
S58P |
probably benign |
Het |
Gria4 |
G |
A |
9: 4,480,242 (GRCm39) |
A402V |
probably benign |
Het |
Heatr5a |
C |
A |
12: 51,946,012 (GRCm39) |
A1200S |
probably benign |
Het |
Nlrp5 |
A |
T |
7: 23,116,762 (GRCm39) |
D162V |
probably benign |
Het |
Or14j6 |
T |
C |
17: 38,215,148 (GRCm39) |
V237A |
probably benign |
Het |
Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
Pcf11 |
G |
A |
7: 92,308,706 (GRCm39) |
R589C |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,362,696 (GRCm39) |
D574G |
probably benign |
Het |
Plb1 |
T |
C |
5: 32,422,250 (GRCm39) |
S68P |
probably damaging |
Het |
Plekhs1 |
A |
G |
19: 56,460,188 (GRCm39) |
M95V |
probably damaging |
Het |
Polr2h |
T |
C |
16: 20,536,746 (GRCm39) |
|
probably null |
Het |
Ppef2 |
T |
A |
5: 92,376,524 (GRCm39) |
I668L |
possibly damaging |
Het |
Rbm46 |
C |
T |
3: 82,772,775 (GRCm39) |
R119Q |
probably benign |
Het |
Rwdd1 |
A |
G |
10: 33,878,523 (GRCm39) |
V104A |
probably damaging |
Het |
Slc2a9 |
G |
T |
5: 38,637,402 (GRCm39) |
H25N |
probably benign |
Het |
Slc36a3 |
T |
A |
11: 55,015,907 (GRCm39) |
I416F |
probably damaging |
Het |
Sppl2b |
T |
A |
10: 80,701,193 (GRCm39) |
V356D |
probably damaging |
Het |
Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm39) |
|
probably benign |
Het |
Tln1 |
T |
C |
4: 43,555,918 (GRCm39) |
T99A |
probably damaging |
Het |
Tm9sf3 |
A |
T |
19: 41,229,074 (GRCm39) |
M243K |
probably damaging |
Het |
Trnt1 |
T |
C |
6: 106,746,832 (GRCm39) |
Y6H |
probably benign |
Het |
Ttn |
T |
A |
2: 76,612,626 (GRCm39) |
H17151L |
probably benign |
Het |
Ube2o |
A |
G |
11: 116,439,624 (GRCm39) |
V182A |
possibly damaging |
Het |
Zfhx2 |
G |
T |
14: 55,310,373 (GRCm39) |
D724E |
possibly damaging |
Het |
Zfp616 |
T |
A |
11: 73,976,569 (GRCm39) |
V946D |
probably damaging |
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 |
R2858:Cyp2a22
|
UTSW |
7 |
26,633,687 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
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'- AATTGTCTGAGGGTAAAGGCTG -3'
(R):5'- CCGAAATCTGGTGCTGAGAG -3'
Sequencing Primer
(F):5'- TAAAGGCTGGTTTTGAGGGGAGC -3'
(R):5'- GAGAGTTTGGTGCCTCACTCC -3'
|
Posted On |
2020-07-13 |