Incidental Mutation 'R2208:Cyp2d12'
| ID |
236798 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2d12
|
| Ensembl Gene |
ENSMUSG00000096852 |
| Gene Name |
cytochrome P450, family 2, subfamily d, polypeptide 12 |
| Synonyms |
9030605E09Rik |
| MMRRC Submission |
040210-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R2208 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
82439244-82443614 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 82441137 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 141
(L141P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154856
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068861]
[ENSMUST00000228974]
[ENSMUST00000229103]
[ENSMUST00000229904]
|
| AlphaFold |
Q8BVD2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068861
AA Change: L192P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000071064
Gene: ENSMUSG00000096852
AA Change: L192P
| 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 damaging
Transcript: ENSMUST00000229103
AA Change: L66P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229792
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229904
AA Change: L141P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229988
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230859
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
98% (51/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
C |
19: 8,995,096 (GRCm39) |
V5460A |
probably benign |
Het |
| Bco2 |
A |
G |
9: 50,444,755 (GRCm39) |
V517A |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,455,809 (GRCm39) |
D183E |
probably damaging |
Het |
| Ccdc142 |
T |
C |
6: 83,084,941 (GRCm39) |
|
probably null |
Het |
| Ccdc39 |
A |
G |
3: 33,895,327 (GRCm39) |
L34P |
probably damaging |
Het |
| Cdc42bpb |
T |
A |
12: 111,302,463 (GRCm39) |
H198L |
probably damaging |
Het |
| Cdc73 |
T |
A |
1: 143,485,120 (GRCm39) |
E516V |
probably damaging |
Het |
| Cep170b |
T |
A |
12: 112,705,419 (GRCm39) |
L1059Q |
probably benign |
Het |
| Chrm1 |
T |
C |
19: 8,655,463 (GRCm39) |
L56P |
probably damaging |
Het |
| Clec4d |
T |
A |
6: 123,242,314 (GRCm39) |
V22D |
probably damaging |
Het |
| Cplane1 |
T |
A |
15: 8,223,887 (GRCm39) |
N883K |
probably benign |
Het |
| Cyp2c39 |
T |
C |
19: 39,549,405 (GRCm39) |
Y308H |
possibly damaging |
Het |
| Cyp4x1 |
G |
T |
4: 114,983,791 (GRCm39) |
Q85K |
probably benign |
Het |
| Dpysl5 |
G |
A |
5: 30,948,941 (GRCm39) |
D399N |
probably damaging |
Het |
| Enpp7 |
T |
C |
11: 118,879,588 (GRCm39) |
|
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fitm2 |
T |
A |
2: 163,314,604 (GRCm39) |
|
probably benign |
Het |
| Gng10 |
T |
A |
4: 59,035,314 (GRCm39) |
I26N |
possibly damaging |
Het |
| Gpr33 |
C |
T |
12: 52,070,236 (GRCm39) |
V268I |
probably benign |
Het |
| Hmcn2 |
G |
A |
2: 31,270,309 (GRCm39) |
C1182Y |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Krt36 |
C |
T |
11: 99,993,765 (GRCm39) |
V358M |
probably damaging |
Het |
| Lmod3 |
T |
C |
6: 97,224,838 (GRCm39) |
I328V |
probably benign |
Het |
| Lrp8 |
T |
C |
4: 107,712,987 (GRCm39) |
V580A |
probably damaging |
Het |
| Masp2 |
T |
C |
4: 148,698,872 (GRCm39) |
I651T |
probably damaging |
Het |
| Mnd1 |
C |
A |
3: 84,041,416 (GRCm39) |
C62F |
probably benign |
Het |
| Msi2 |
A |
T |
11: 88,480,934 (GRCm39) |
S118T |
probably damaging |
Het |
| Muc19 |
T |
C |
15: 91,755,747 (GRCm39) |
|
noncoding transcript |
Het |
| Nabp1 |
G |
A |
1: 51,516,773 (GRCm39) |
R32* |
probably null |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Nup88 |
T |
C |
11: 70,856,545 (GRCm39) |
D196G |
probably damaging |
Het |
| Or11h4b |
T |
C |
14: 50,919,020 (GRCm39) |
I24V |
probably benign |
Het |
| Pax1 |
T |
A |
2: 147,207,722 (GRCm39) |
I198N |
probably damaging |
Het |
| Pde3a |
A |
G |
6: 141,196,073 (GRCm39) |
E253G |
probably damaging |
Het |
| Phldb1 |
C |
T |
9: 44,607,428 (GRCm39) |
R1192Q |
probably damaging |
Het |
| Pianp |
C |
A |
6: 124,976,602 (GRCm39) |
P137Q |
probably damaging |
Het |
| Prdm15 |
A |
C |
16: 97,600,464 (GRCm39) |
|
probably null |
Het |
| Ptprf |
A |
T |
4: 118,126,369 (GRCm39) |
|
probably benign |
Het |
| Rfx7 |
A |
G |
9: 72,525,246 (GRCm39) |
D812G |
probably benign |
Het |
| Rgs22 |
T |
C |
15: 36,050,378 (GRCm39) |
T691A |
probably benign |
Het |
| Rundc3a |
A |
T |
11: 102,292,914 (GRCm39) |
S436C |
probably damaging |
Het |
| Sntb1 |
T |
C |
15: 55,769,714 (GRCm39) |
T92A |
possibly damaging |
Het |
| Tars3 |
T |
C |
7: 65,332,596 (GRCm39) |
S566P |
probably damaging |
Het |
| Tbc1d32 |
A |
T |
10: 56,026,888 (GRCm39) |
|
probably null |
Het |
| Tep1 |
T |
C |
14: 51,104,321 (GRCm39) |
Q191R |
probably benign |
Het |
| Tmc2 |
C |
A |
2: 130,056,483 (GRCm39) |
|
probably null |
Het |
| Tns1 |
A |
C |
1: 74,118,399 (GRCm39) |
I77S |
probably damaging |
Het |
| Trpd52l3 |
T |
C |
19: 29,981,646 (GRCm39) |
W134R |
probably damaging |
Het |
| Vmn2r15 |
A |
C |
5: 109,445,309 (GRCm39) |
N38K |
possibly damaging |
Het |
| Wdr90 |
A |
T |
17: 26,079,362 (GRCm39) |
D257E |
probably damaging |
Het |
| Zbtb9 |
T |
C |
17: 27,193,098 (GRCm39) |
C168R |
possibly damaging |
Het |
| Zfp1004 |
T |
A |
2: 150,035,065 (GRCm39) |
V462E |
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 |
|
|
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 |
|
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'- TGGGCAGGAAATCTCTGGAG -3'
(R):5'- TGTAGTTGAACCCAAGAAGGC -3'
Sequencing Primer
(F):5'- AAATCTCTGGAGGAGTGGGTGATC -3'
(R):5'- TAGTTGAACCCAAGAAGGCCTCTC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation