Incidental Mutation 'R6042:Cyp2a22'
| ID |
483611 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2a22
|
| Ensembl Gene |
ENSMUSG00000091867 |
| Gene Name |
cytochrome P450, family 2, subfamily a, polypeptide 22 |
| Synonyms |
EG233005 |
| MMRRC Submission |
044210-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R6042 (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 26633664 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Aspartic acid
at position 349
(Y349D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128030
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170227]
|
| AlphaFold |
B2RXZ2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170227
AA Change: Y349D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128030
Gene: ENSMUSG00000091867
AA Change: Y349D
| 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: 97.9%
- 20x: 93.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
T |
A |
12: 80,224,023 (GRCm39) |
K478M |
probably benign |
Het |
| Ankar |
G |
T |
1: 72,713,213 (GRCm39) |
S474* |
probably null |
Het |
| Barx2 |
C |
A |
9: 31,758,199 (GRCm39) |
E246D |
probably benign |
Het |
| Cdh20 |
A |
T |
1: 110,065,997 (GRCm39) |
Q757L |
probably damaging |
Het |
| Cnr1 |
T |
C |
4: 33,944,751 (GRCm39) |
F380L |
probably damaging |
Het |
| Cntnap5b |
G |
A |
1: 100,318,317 (GRCm39) |
A655T |
probably benign |
Het |
| Col2a1 |
T |
A |
15: 97,898,451 (GRCm39) |
|
probably benign |
Het |
| Crybg3 |
C |
T |
16: 59,370,838 (GRCm39) |
R2340Q |
possibly damaging |
Het |
| Ctsb |
G |
T |
14: 63,379,305 (GRCm39) |
D306Y |
probably damaging |
Het |
| Dcpp2 |
T |
C |
17: 24,117,886 (GRCm39) |
L22S |
probably damaging |
Het |
| Dnah8 |
G |
T |
17: 30,966,239 (GRCm39) |
M2476I |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,228,053 (GRCm39) |
E1882G |
probably damaging |
Het |
| Esrp1 |
T |
C |
4: 11,357,580 (GRCm39) |
K511E |
possibly damaging |
Het |
| Fat3 |
T |
A |
9: 16,289,113 (GRCm39) |
T137S |
probably benign |
Het |
| Fbxw24 |
T |
A |
9: 109,436,079 (GRCm39) |
M318L |
probably benign |
Het |
| Fpr-rs7 |
T |
A |
17: 20,333,477 (GRCm39) |
T338S |
probably benign |
Het |
| Gcgr |
T |
C |
11: 120,425,584 (GRCm39) |
M1T |
probably null |
Het |
| Grifin |
C |
A |
5: 140,549,311 (GRCm39) |
R135L |
possibly damaging |
Het |
| Helz |
T |
C |
11: 107,504,946 (GRCm39) |
|
probably null |
Het |
| Hivep3 |
C |
G |
4: 119,955,061 (GRCm39) |
Q1126E |
possibly damaging |
Het |
| Htr3a |
T |
A |
9: 48,815,999 (GRCm39) |
H146L |
probably damaging |
Het |
| Lama3 |
T |
A |
18: 12,707,311 (GRCm39) |
V3081E |
probably damaging |
Het |
| Mgat5 |
T |
A |
1: 127,387,636 (GRCm39) |
C531S |
probably damaging |
Het |
| Mical2 |
A |
G |
7: 111,979,619 (GRCm39) |
D106G |
probably benign |
Het |
| Nectin2 |
C |
T |
7: 19,472,063 (GRCm39) |
A109T |
probably benign |
Het |
| Olig3 |
T |
C |
10: 19,232,503 (GRCm39) |
S43P |
probably damaging |
Het |
| Or5an9 |
A |
T |
19: 12,187,286 (GRCm39) |
M119L |
probably damaging |
Het |
| Or8b39 |
T |
A |
9: 37,996,390 (GRCm39) |
V86E |
probably damaging |
Het |
| Pcdh12 |
T |
C |
18: 38,414,558 (GRCm39) |
R856G |
probably damaging |
Het |
| Phpt1 |
T |
A |
2: 25,464,851 (GRCm39) |
M1L |
probably benign |
Het |
| Polr2m |
T |
C |
9: 71,391,080 (GRCm39) |
I41V |
probably damaging |
Het |
| Pramel28 |
G |
T |
4: 143,692,631 (GRCm39) |
D123E |
probably benign |
Het |
| Pzp |
A |
G |
6: 128,500,977 (GRCm39) |
V127A |
possibly damaging |
Het |
| Rgs7 |
G |
T |
1: 174,977,226 (GRCm39) |
T126K |
probably damaging |
Het |
| RP23-399J5.1 |
T |
C |
8: 71,542,571 (GRCm39) |
|
noncoding transcript |
Het |
| Rras |
A |
T |
7: 44,669,820 (GRCm39) |
D112V |
probably damaging |
Het |
| Sdcbp2 |
T |
A |
2: 151,424,646 (GRCm39) |
Y5* |
probably null |
Het |
| Slc43a2 |
T |
C |
11: 75,461,433 (GRCm39) |
F462L |
probably damaging |
Het |
| Smchd1 |
T |
A |
17: 71,684,052 (GRCm39) |
K1436* |
probably null |
Het |
| Snrnp27 |
A |
C |
6: 86,659,902 (GRCm39) |
S31A |
unknown |
Het |
| Sqstm1 |
A |
C |
11: 50,098,251 (GRCm39) |
F172V |
probably benign |
Het |
| Stk32b |
T |
A |
5: 37,806,458 (GRCm39) |
I29F |
probably damaging |
Het |
| Syt10 |
G |
A |
15: 89,725,824 (GRCm39) |
T50I |
probably benign |
Het |
| Syt16 |
T |
C |
12: 74,313,504 (GRCm39) |
Y477H |
probably damaging |
Het |
| Tacr3 |
A |
T |
3: 134,638,153 (GRCm39) |
T437S |
probably benign |
Het |
| Tg |
G |
A |
15: 66,555,842 (GRCm39) |
D845N |
probably benign |
Het |
| Uqcc1 |
G |
T |
2: 155,763,564 (GRCm39) |
S36R |
possibly damaging |
Het |
| Vmn1r20 |
T |
C |
6: 57,409,391 (GRCm39) |
V239A |
possibly damaging |
Het |
| Xpo7 |
T |
A |
14: 70,933,103 (GRCm39) |
Q263L |
possibly damaging |
Het |
| Zfp442 |
T |
C |
2: 150,250,016 (GRCm39) |
K572E |
probably damaging |
Het |
| Zswim5 |
A |
C |
4: 116,819,818 (GRCm39) |
S408R |
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 |
|
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 |
|
|
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 |
2017-07-14 |
Incidental Mutation