Incidental Mutation 'R1297:Cyp2d12'
ID |
158192 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2d12
|
Ensembl Gene |
ENSMUSG00000096852 |
Gene Name |
cytochrome P450, family 2, subfamily d, polypeptide 12 |
Synonyms |
9030605E09Rik |
MMRRC Submission |
039363-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
R1297 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
82439244-82443614 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 82441887 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 109
(H109L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155031
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068861]
[ENSMUST00000228974]
[ENSMUST00000229103]
[ENSMUST00000229904]
|
AlphaFold |
Q8BVD2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000068861
AA Change: H235L
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000071064 Gene: ENSMUSG00000096852 AA Change: H235L
Domain | Start | End | E-Value | Type |
transmembrane domain
|
4 |
23 |
N/A |
INTRINSIC |
Pfam:p450
|
37 |
497 |
3.6e-143 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184191
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228974
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229103
AA Change: H109L
PolyPhen 2
Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229418
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229792
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229904
AA Change: H184L
PolyPhen 2
Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229988
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230859
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.8%
|
Validation Efficiency |
100% (37/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aebp1 |
A |
G |
11: 5,820,834 (GRCm39) |
N542D |
possibly damaging |
Het |
Ap2b1 |
T |
A |
11: 83,223,935 (GRCm39) |
W217R |
probably damaging |
Het |
Cep290 |
T |
A |
10: 100,374,962 (GRCm39) |
|
probably benign |
Het |
Col27a1 |
G |
A |
4: 63,183,868 (GRCm39) |
|
probably benign |
Het |
Dnah17 |
T |
C |
11: 118,012,192 (GRCm39) |
|
probably benign |
Het |
Golga3 |
G |
A |
5: 110,352,709 (GRCm39) |
A867T |
probably benign |
Het |
Gstt4 |
T |
A |
10: 75,653,133 (GRCm39) |
N143I |
possibly damaging |
Het |
Hdac2 |
G |
A |
10: 36,862,370 (GRCm39) |
R78Q |
possibly damaging |
Het |
Itsn2 |
T |
C |
12: 4,750,378 (GRCm39) |
I1241T |
probably damaging |
Het |
Kalrn |
T |
C |
16: 33,836,868 (GRCm39) |
K2249R |
probably damaging |
Het |
Klrg1 |
T |
A |
6: 122,250,538 (GRCm39) |
I138F |
probably benign |
Het |
Mast1 |
A |
G |
8: 85,639,345 (GRCm39) |
V1328A |
probably benign |
Het |
Mettl25 |
T |
C |
10: 105,659,126 (GRCm39) |
S386G |
probably benign |
Het |
Nme2 |
A |
T |
11: 93,842,782 (GRCm39) |
N210K |
possibly damaging |
Het |
Pgap1 |
T |
C |
1: 54,567,682 (GRCm39) |
S388G |
possibly damaging |
Het |
Pgk2 |
C |
A |
17: 40,519,255 (GRCm39) |
V58L |
probably benign |
Het |
Phf11 |
A |
T |
14: 59,495,996 (GRCm39) |
H39Q |
probably benign |
Het |
Pou6f1 |
T |
A |
15: 100,476,186 (GRCm39) |
T292S |
probably damaging |
Het |
Rbm5 |
G |
A |
9: 107,621,441 (GRCm39) |
R15C |
probably damaging |
Het |
Rnf215 |
T |
C |
11: 4,089,806 (GRCm39) |
V273A |
possibly damaging |
Het |
Rras |
A |
G |
7: 44,670,003 (GRCm39) |
D145G |
probably damaging |
Het |
Safb2 |
T |
C |
17: 56,891,265 (GRCm39) |
|
probably benign |
Het |
Setdb1 |
A |
T |
3: 95,257,187 (GRCm39) |
|
probably benign |
Het |
Sp5 |
A |
G |
2: 70,306,873 (GRCm39) |
D186G |
probably benign |
Het |
Thada |
A |
G |
17: 84,559,863 (GRCm39) |
|
probably benign |
Het |
Tle1 |
A |
G |
4: 72,043,075 (GRCm39) |
V598A |
probably damaging |
Het |
Tnrc6c |
A |
G |
11: 117,624,529 (GRCm39) |
N947S |
possibly damaging |
Het |
Tnxb |
T |
C |
17: 34,929,140 (GRCm39) |
S2728P |
probably damaging |
Het |
Vmn1r13 |
A |
G |
6: 57,187,392 (GRCm39) |
R184G |
probably damaging |
Het |
Wdr24 |
C |
T |
17: 26,046,322 (GRCm39) |
T522I |
possibly damaging |
Het |
Zfyve16 |
A |
G |
13: 92,658,840 (GRCm39) |
V357A |
probably benign |
Het |
|
Other mutations in Cyp2d12 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01959:Cyp2d12
|
APN |
15 |
82,439,545 (GRCm39) |
splice site |
probably benign |
|
IGL02318:Cyp2d12
|
APN |
15 |
82,439,444 (GRCm39) |
missense |
probably benign |
0.33 |
IGL02353:Cyp2d12
|
APN |
15 |
82,443,171 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02360:Cyp2d12
|
APN |
15 |
82,443,171 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02491:Cyp2d12
|
APN |
15 |
82,442,682 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL02651:Cyp2d12
|
APN |
15 |
82,440,941 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02664:Cyp2d12
|
APN |
15 |
82,443,535 (GRCm39) |
missense |
probably benign |
|
IGL03169:Cyp2d12
|
APN |
15 |
82,443,492 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03354:Cyp2d12
|
APN |
15 |
82,443,162 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4581001:Cyp2d12
|
UTSW |
15 |
82,442,652 (GRCm39) |
missense |
probably damaging |
1.00 |
R0426:Cyp2d12
|
UTSW |
15 |
82,443,164 (GRCm39) |
missense |
probably benign |
0.12 |
R0578:Cyp2d12
|
UTSW |
15 |
82,440,584 (GRCm39) |
splice site |
probably benign |
|
R1517:Cyp2d12
|
UTSW |
15 |
82,442,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R1718:Cyp2d12
|
UTSW |
15 |
82,442,251 (GRCm39) |
missense |
probably benign |
0.00 |
R1829:Cyp2d12
|
UTSW |
15 |
82,442,257 (GRCm39) |
missense |
possibly damaging |
0.87 |
R2208:Cyp2d12
|
UTSW |
15 |
82,441,137 (GRCm39) |
missense |
probably damaging |
1.00 |
R2366:Cyp2d12
|
UTSW |
15 |
82,439,355 (GRCm39) |
missense |
probably damaging |
1.00 |
R2385:Cyp2d12
|
UTSW |
15 |
82,442,696 (GRCm39) |
missense |
probably benign |
0.00 |
R2504:Cyp2d12
|
UTSW |
15 |
82,443,237 (GRCm39) |
missense |
probably benign |
0.06 |
R4009:Cyp2d12
|
UTSW |
15 |
82,440,493 (GRCm39) |
missense |
probably damaging |
1.00 |
R4940:Cyp2d12
|
UTSW |
15 |
82,442,251 (GRCm39) |
missense |
probably benign |
0.00 |
R5237:Cyp2d12
|
UTSW |
15 |
82,442,207 (GRCm39) |
splice site |
probably null |
|
R5327:Cyp2d12
|
UTSW |
15 |
82,439,423 (GRCm39) |
missense |
probably benign |
0.00 |
R5549:Cyp2d12
|
UTSW |
15 |
82,440,498 (GRCm39) |
missense |
probably benign |
0.23 |
R6128:Cyp2d12
|
UTSW |
15 |
82,443,166 (GRCm39) |
missense |
probably benign |
|
R6275:Cyp2d12
|
UTSW |
15 |
82,440,859 (GRCm39) |
missense |
probably benign |
0.00 |
R6723:Cyp2d12
|
UTSW |
15 |
82,441,085 (GRCm39) |
missense |
probably benign |
|
R6808:Cyp2d12
|
UTSW |
15 |
82,440,934 (GRCm39) |
missense |
probably damaging |
1.00 |
R6947:Cyp2d12
|
UTSW |
15 |
82,443,248 (GRCm39) |
missense |
probably benign |
|
R7137:Cyp2d12
|
UTSW |
15 |
82,442,022 (GRCm39) |
missense |
probably benign |
0.42 |
R7224:Cyp2d12
|
UTSW |
15 |
82,441,849 (GRCm39) |
splice site |
probably null |
|
R7513:Cyp2d12
|
UTSW |
15 |
82,442,621 (GRCm39) |
missense |
probably benign |
|
R7698:Cyp2d12
|
UTSW |
15 |
82,443,171 (GRCm39) |
missense |
probably benign |
0.02 |
R7753:Cyp2d12
|
UTSW |
15 |
82,441,164 (GRCm39) |
missense |
possibly damaging |
0.68 |
R8465:Cyp2d12
|
UTSW |
15 |
82,439,378 (GRCm39) |
missense |
possibly damaging |
0.46 |
R8965:Cyp2d12
|
UTSW |
15 |
82,443,186 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9031:Cyp2d12
|
UTSW |
15 |
82,443,423 (GRCm39) |
missense |
probably null |
0.02 |
R9286:Cyp2d12
|
UTSW |
15 |
82,443,403 (GRCm39) |
missense |
probably damaging |
1.00 |
R9296:Cyp2d12
|
UTSW |
15 |
82,440,435 (GRCm39) |
nonsense |
probably null |
|
X0065:Cyp2d12
|
UTSW |
15 |
82,442,029 (GRCm39) |
missense |
probably benign |
0.04 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGTGGATACCGAGCATCACTAGC -3'
(R):5'- ATCTGGCCTCACAGCTCATAGGAC -3'
Sequencing Primer
(F):5'- agtaaaatggtgagtgggtaagg -3'
(R):5'- CAGTCCCTAGCTAAAAGTCTTGGAG -3'
|
Posted On |
2014-02-18 |