Incidental Mutation 'R6936:Cyp2d26'
| ID |
540317 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2d26
|
| Ensembl Gene |
ENSMUSG00000022445 |
| Gene Name |
cytochrome P450, family 2, subfamily d, polypeptide 26 |
| Synonyms |
1300006E06Rik |
| MMRRC Submission |
045050-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R6936 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
82674302-82678495 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 82676741 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 202
(D202N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006094
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006094]
[ENSMUST00000229387]
[ENSMUST00000229512]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006094
AA Change: D202N
PolyPhen 2
Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000006094
Gene: ENSMUSG00000022445
AA Change: D202N
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
27 |
N/A |
INTRINSIC |
|
Pfam:p450
|
37 |
497 |
3.5e-141 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229387
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229512
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.7%
|
| Validation Efficiency |
98% (48/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,248,568 (GRCm39) |
I2772F |
probably damaging |
Het |
| Adam1a |
A |
G |
5: 121,657,425 (GRCm39) |
C623R |
probably damaging |
Het |
| Ak2 |
T |
C |
4: 128,893,005 (GRCm39) |
S55P |
probably damaging |
Het |
| Ak4 |
C |
T |
4: 101,304,456 (GRCm39) |
A82V |
probably benign |
Het |
| Arhgap10 |
A |
T |
8: 78,037,376 (GRCm39) |
C617* |
probably null |
Het |
| Art1 |
A |
T |
7: 101,755,977 (GRCm39) |
D56V |
possibly damaging |
Het |
| Ascc3 |
A |
G |
10: 50,606,057 (GRCm39) |
D1392G |
probably damaging |
Het |
| Bbs5 |
T |
C |
2: 69,484,698 (GRCm39) |
S123P |
probably damaging |
Het |
| Cabin1 |
A |
T |
10: 75,551,592 (GRCm39) |
|
probably null |
Het |
| Carmil3 |
G |
A |
14: 55,739,018 (GRCm39) |
E891K |
probably benign |
Het |
| Cbfa2t3 |
C |
G |
8: 123,374,478 (GRCm39) |
R89P |
probably damaging |
Het |
| Ccdc157 |
A |
G |
11: 4,094,030 (GRCm39) |
S534P |
probably benign |
Het |
| Cep72 |
A |
T |
13: 74,188,206 (GRCm39) |
I229N |
probably damaging |
Het |
| Cnn3 |
C |
T |
3: 121,243,702 (GRCm39) |
|
probably benign |
Het |
| Cyp2c70 |
A |
G |
19: 40,156,007 (GRCm39) |
V181A |
probably damaging |
Het |
| Dbh |
A |
G |
2: 27,062,809 (GRCm39) |
K343E |
probably benign |
Het |
| Dlx5 |
A |
G |
6: 6,879,585 (GRCm39) |
Y161H |
probably damaging |
Het |
| Dnah5 |
A |
T |
15: 28,409,414 (GRCm39) |
I3611F |
probably damaging |
Het |
| Egf |
A |
C |
3: 129,474,853 (GRCm39) |
F563V |
possibly damaging |
Het |
| Enpp1 |
T |
C |
10: 24,527,237 (GRCm39) |
H650R |
probably benign |
Het |
| Exoc6 |
A |
G |
19: 37,560,311 (GRCm39) |
I109M |
probably benign |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fgg |
C |
T |
3: 82,915,727 (GRCm39) |
S56F |
possibly damaging |
Het |
| Fras1 |
A |
G |
5: 96,916,211 (GRCm39) |
D3415G |
possibly damaging |
Het |
| Ghsr |
A |
G |
3: 27,426,474 (GRCm39) |
I177V |
probably benign |
Het |
| Gm1979 |
A |
T |
5: 26,207,028 (GRCm39) |
H62Q |
probably benign |
Het |
| Gpatch2 |
A |
G |
1: 186,965,433 (GRCm39) |
D313G |
probably benign |
Het |
| Gtf2i |
C |
T |
5: 134,271,639 (GRCm39) |
E823K |
probably damaging |
Het |
| Hook2 |
C |
A |
8: 85,729,627 (GRCm39) |
T689N |
probably benign |
Het |
| Hrnr |
A |
T |
3: 93,239,667 (GRCm39) |
N3302Y |
unknown |
Het |
| Igkv7-33 |
G |
A |
6: 70,035,785 (GRCm39) |
P66S |
possibly damaging |
Het |
| Kcnh2 |
T |
A |
5: 24,529,337 (GRCm39) |
I800F |
probably damaging |
Het |
| Mcmbp |
G |
A |
7: 128,326,920 (GRCm39) |
Q21* |
probably null |
Het |
| Mmp21 |
T |
C |
7: 133,280,704 (GRCm39) |
K89E |
probably benign |
Het |
| Or4b13 |
A |
G |
2: 90,082,678 (GRCm39) |
V218A |
probably benign |
Het |
| Or52r1c |
A |
T |
7: 102,735,021 (GRCm39) |
I94F |
probably damaging |
Het |
| Pcdhga4 |
A |
G |
18: 37,820,458 (GRCm39) |
D669G |
possibly damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,832,997 (GRCm39) |
T169A |
probably damaging |
Het |
| Sec31a |
T |
C |
5: 100,540,369 (GRCm39) |
N35S |
probably benign |
Het |
| Serpinb5 |
A |
T |
1: 106,798,148 (GRCm39) |
T46S |
probably benign |
Het |
| Svs5 |
A |
G |
2: 164,079,548 (GRCm39) |
S120P |
possibly damaging |
Het |
| Tbpl2 |
T |
C |
2: 23,984,953 (GRCm39) |
T64A |
probably benign |
Het |
| Tecpr2 |
T |
A |
12: 110,911,297 (GRCm39) |
H1111Q |
possibly damaging |
Het |
| Tm9sf3 |
A |
G |
19: 41,211,638 (GRCm39) |
F402L |
probably benign |
Het |
| Tmem120b |
T |
G |
5: 123,254,287 (GRCm39) |
V287G |
possibly damaging |
Het |
| Tmem150c |
T |
C |
5: 100,231,577 (GRCm39) |
T133A |
possibly damaging |
Het |
| Ubqln3 |
A |
T |
7: 103,791,517 (GRCm39) |
V191D |
probably damaging |
Het |
| Ubr2 |
T |
C |
17: 47,283,957 (GRCm39) |
E564G |
possibly damaging |
Het |
| Zkscan1 |
T |
C |
5: 138,091,567 (GRCm39) |
V100A |
probably damaging |
Het |
|
| Other mutations in Cyp2d26 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00559:Cyp2d26
|
APN |
15 |
82,675,244 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL00670:Cyp2d26
|
APN |
15 |
82,675,942 (GRCm39) |
missense |
probably benign |
|
|
IGL01646:Cyp2d26
|
APN |
15 |
82,675,619 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01915:Cyp2d26
|
APN |
15 |
82,674,450 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01940:Cyp2d26
|
APN |
15 |
82,676,758 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02127:Cyp2d26
|
APN |
15 |
82,675,307 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02452:Cyp2d26
|
APN |
15 |
82,676,827 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03216:Cyp2d26
|
APN |
15 |
82,677,462 (GRCm39) |
missense |
probably benign |
|
|
IGL03377:Cyp2d26
|
APN |
15 |
82,674,755 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R0149:Cyp2d26
|
UTSW |
15 |
82,676,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0848:Cyp2d26
|
UTSW |
15 |
82,674,434 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1165:Cyp2d26
|
UTSW |
15 |
82,678,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1217:Cyp2d26
|
UTSW |
15 |
82,677,068 (GRCm39) |
splice site |
probably benign |
|
|
R1780:Cyp2d26
|
UTSW |
15 |
82,678,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2048:Cyp2d26
|
UTSW |
15 |
82,676,928 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R2152:Cyp2d26
|
UTSW |
15 |
82,676,907 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2397:Cyp2d26
|
UTSW |
15 |
82,678,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4702:Cyp2d26
|
UTSW |
15 |
82,676,648 (GRCm39) |
intron |
probably benign |
|
|
R5157:Cyp2d26
|
UTSW |
15 |
82,675,190 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5444:Cyp2d26
|
UTSW |
15 |
82,676,739 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6017:Cyp2d26
|
UTSW |
15 |
82,674,774 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6223:Cyp2d26
|
UTSW |
15 |
82,675,918 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6390:Cyp2d26
|
UTSW |
15 |
82,676,825 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6473:Cyp2d26
|
UTSW |
15 |
82,675,968 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6858:Cyp2d26
|
UTSW |
15 |
82,678,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6912:Cyp2d26
|
UTSW |
15 |
82,675,320 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6960:Cyp2d26
|
UTSW |
15 |
82,674,446 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7053:Cyp2d26
|
UTSW |
15 |
82,676,801 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7113:Cyp2d26
|
UTSW |
15 |
82,674,403 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7126:Cyp2d26
|
UTSW |
15 |
82,678,209 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7272:Cyp2d26
|
UTSW |
15 |
82,676,764 (GRCm39) |
missense |
probably benign |
|
|
R7771:Cyp2d26
|
UTSW |
15 |
82,675,947 (GRCm39) |
missense |
probably benign |
|
|
R8695:Cyp2d26
|
UTSW |
15 |
82,676,907 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R9466:Cyp2d26
|
UTSW |
15 |
82,674,424 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9489:Cyp2d26
|
UTSW |
15 |
82,674,672 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9605:Cyp2d26
|
UTSW |
15 |
82,674,672 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9656:Cyp2d26
|
UTSW |
15 |
82,677,059 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0021:Cyp2d26
|
UTSW |
15 |
82,674,718 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGGTTTGTCAACACCCAAG -3'
(R):5'- TCTGCGATGCTTTCACCAAG -3'
Sequencing Primer
(F):5'- GGTTTGTCAACACCCAAGCCTTTC -3'
(R):5'- ATGCTTTCACCAAGGAGGC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation