Incidental Mutation 'R6757:Cyp2a22'
ID |
531087 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2a22
|
Ensembl Gene |
ENSMUSG00000091867 |
Gene Name |
cytochrome P450, family 2, subfamily a, polypeptide 22 |
Synonyms |
EG233005 |
MMRRC Submission |
044873-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.082)
|
Stock # |
R6757 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
26631056-26638809 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 26638629 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 52
(D52E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128030
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170227]
|
AlphaFold |
B2RXZ2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000170227
AA Change: D52E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000128030 Gene: ENSMUSG00000091867 AA Change: D52E
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
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830018L16Rik |
A |
T |
1: 11,666,558 (GRCm39) |
*288Y |
probably null |
Het |
Art2a |
G |
T |
7: 101,204,221 (GRCm39) |
L106I |
probably benign |
Het |
Bmi1 |
C |
T |
2: 18,688,840 (GRCm39) |
T203M |
probably damaging |
Het |
Cpm |
A |
G |
10: 117,507,543 (GRCm39) |
D220G |
probably damaging |
Het |
Dag1 |
A |
C |
9: 108,095,216 (GRCm39) |
I92S |
probably damaging |
Het |
Dntt |
A |
T |
19: 41,025,601 (GRCm39) |
H73L |
probably damaging |
Het |
Epha5 |
A |
C |
5: 84,253,737 (GRCm39) |
I716S |
probably damaging |
Het |
Fpr-rs4 |
C |
T |
17: 18,242,394 (GRCm39) |
Q134* |
probably null |
Het |
Fzd8 |
T |
A |
18: 9,213,238 (GRCm39) |
C107S |
possibly damaging |
Het |
Garre1 |
G |
A |
7: 33,938,502 (GRCm39) |
A799V |
possibly damaging |
Het |
Gnptab |
T |
C |
10: 88,273,364 (GRCm39) |
L1047P |
probably damaging |
Het |
Gstt1 |
A |
T |
10: 75,634,217 (GRCm39) |
|
probably null |
Het |
Kdm2a |
T |
C |
19: 4,369,271 (GRCm39) |
R1115G |
probably damaging |
Het |
Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
Myo1b |
C |
T |
1: 51,852,207 (GRCm39) |
E179K |
probably damaging |
Het |
Nrp1 |
T |
A |
8: 129,152,349 (GRCm39) |
I186N |
probably damaging |
Het |
Or10g3 |
A |
G |
14: 52,610,172 (GRCm39) |
C113R |
probably damaging |
Het |
Pole |
T |
C |
5: 110,451,476 (GRCm39) |
V835A |
probably damaging |
Het |
Shprh |
A |
G |
10: 11,057,252 (GRCm39) |
|
probably null |
Het |
Slc39a14 |
A |
T |
14: 70,548,333 (GRCm39) |
L238Q |
probably damaging |
Het |
Spata31e5 |
A |
C |
1: 28,819,191 (GRCm39) |
I30S |
probably damaging |
Het |
Usp40 |
A |
T |
1: 87,907,759 (GRCm39) |
I619N |
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 |
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'- TCACTTAACTGGACCAGTACAG -3'
(R):5'- AGTCCTCACTGGCCATCATG -3'
Sequencing Primer
(F):5'- CCAGTACAGAGGTCAGATTATGTG -3'
(R):5'- TCACTGGCCATCATGCTGGG -3'
|
Posted On |
2018-08-01 |