Incidental Mutation 'R2366:Cyp2d12'
| ID |
246349 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2d12
|
| Ensembl Gene |
ENSMUSG00000096852 |
| Gene Name |
cytochrome P450, family 2, subfamily d, polypeptide 12 |
| Synonyms |
9030605E09Rik |
| MMRRC Submission |
040347-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R2366 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
82439244-82443614 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 82439355 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 3
(L3Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154885
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068861]
[ENSMUST00000228974]
[ENSMUST00000229103]
[ENSMUST00000229904]
|
| AlphaFold |
Q8BVD2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068861
AA Change: L3Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000071064
Gene: ENSMUSG00000096852
AA Change: L3Q
| 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 damaging
Transcript: ENSMUST00000228974
AA Change: L3Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229103
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229792
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229904
AA Change: L3Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229988
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230859
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630091E08Rik |
G |
A |
7: 98,192,949 (GRCm39) |
|
noncoding transcript |
Het |
| Adamts5 |
C |
T |
16: 85,659,646 (GRCm39) |
G882D |
probably damaging |
Het |
| Arl6ip6 |
T |
C |
2: 53,082,379 (GRCm39) |
V82A |
probably benign |
Het |
| Brd10 |
A |
T |
19: 29,731,035 (GRCm39) |
I726N |
probably damaging |
Het |
| Cd38 |
T |
G |
5: 44,060,932 (GRCm39) |
|
probably benign |
Het |
| Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
| Col6a6 |
C |
A |
9: 105,632,893 (GRCm39) |
G1457V |
probably damaging |
Het |
| Cyp2c69 |
T |
C |
19: 39,866,038 (GRCm39) |
N185S |
probably benign |
Het |
| Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
| Drc1 |
A |
G |
5: 30,523,894 (GRCm39) |
*754W |
probably null |
Het |
| Erbin |
G |
A |
13: 103,981,417 (GRCm39) |
H503Y |
probably damaging |
Het |
| F3 |
G |
A |
3: 121,526,194 (GRCm39) |
|
probably null |
Het |
| Gm10033 |
A |
T |
8: 69,826,232 (GRCm39) |
M112K |
unknown |
Het |
| Gps1 |
A |
C |
11: 120,678,945 (GRCm39) |
I404L |
probably damaging |
Het |
| Hc |
T |
C |
2: 34,903,648 (GRCm39) |
N1002S |
probably benign |
Het |
| Impg2 |
T |
C |
16: 56,080,236 (GRCm39) |
I571T |
probably benign |
Het |
| Knop1 |
C |
A |
7: 118,451,751 (GRCm39) |
V323F |
possibly damaging |
Het |
| Kntc1 |
C |
T |
5: 123,919,255 (GRCm39) |
L845F |
probably damaging |
Het |
| Lsm5 |
T |
C |
6: 56,680,003 (GRCm39) |
D53G |
probably damaging |
Het |
| Lzts1 |
T |
C |
8: 69,593,257 (GRCm39) |
|
probably null |
Het |
| Matr3 |
A |
T |
18: 35,721,448 (GRCm39) |
N473I |
probably damaging |
Het |
| Med1 |
A |
G |
11: 98,052,008 (GRCm39) |
V452A |
probably damaging |
Het |
| Napsa |
T |
A |
7: 44,231,909 (GRCm39) |
D44E |
probably damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,290,511 (GRCm39) |
F1036S |
probably damaging |
Het |
| Ncapg2 |
G |
A |
12: 116,384,349 (GRCm39) |
W270* |
probably null |
Het |
| Nherf1 |
G |
A |
11: 115,054,454 (GRCm39) |
V35M |
probably benign |
Het |
| Or5af1 |
C |
A |
11: 58,722,039 (GRCm39) |
Q20K |
probably benign |
Het |
| Pik3ca |
G |
A |
3: 32,516,943 (GRCm39) |
W1057* |
probably null |
Het |
| Pkd1l2 |
A |
T |
8: 117,770,056 (GRCm39) |
D1133E |
probably benign |
Het |
| Pramel39-ps |
T |
C |
5: 94,450,972 (GRCm39) |
K385E |
probably benign |
Het |
| Prox1 |
T |
A |
1: 189,894,079 (GRCm39) |
E122V |
probably damaging |
Het |
| Rest |
C |
A |
5: 77,416,034 (GRCm39) |
H83N |
probably benign |
Het |
| Rundc3a |
A |
G |
11: 102,288,491 (GRCm39) |
I68V |
probably damaging |
Het |
| Stx6 |
A |
T |
1: 155,077,706 (GRCm39) |
I238L |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ubqln3 |
C |
A |
7: 103,790,256 (GRCm39) |
Q611H |
probably damaging |
Het |
| Usp6nl |
T |
A |
2: 6,445,770 (GRCm39) |
H559Q |
probably benign |
Het |
| Vipr1 |
T |
G |
9: 121,494,250 (GRCm39) |
V277G |
probably benign |
Het |
| Zfp101 |
A |
T |
17: 33,599,972 (GRCm39) |
C595S |
probably benign |
Het |
| Zfp398 |
C |
T |
6: 47,840,143 (GRCm39) |
T124I |
possibly damaging |
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 |
|
|
R1297:Cyp2d12
|
UTSW |
15 |
82,441,887 (GRCm39) |
missense |
probably benign |
0.31 |
|
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 |
|
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'- TCAGCAGCTTCTGGAAGAAAC -3'
(R):5'- TCGCTAAGTCACTCACCTTG -3'
Sequencing Primer
(F):5'- TCTGGAAGAAACTAAACATCACTGG -3'
(R):5'- ACCTTGTACAAGCTGTATGGC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation