Incidental Mutation 'PIT4581001:Cyp2d12'
| ID |
556531 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2d12
|
| Ensembl Gene |
ENSMUSG00000096852 |
| Gene Name |
cytochrome P450, family 2, subfamily d, polypeptide 12 |
| Synonyms |
9030605E09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
PIT4581001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
82439244-82443614 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 82442652 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 365
(E365G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071064
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068861]
[ENSMUST00000228974]
[ENSMUST00000229103]
[ENSMUST00000229904]
|
| AlphaFold |
Q8BVD2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068861
AA Change: E365G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000071064
Gene: ENSMUSG00000096852
AA Change: E365G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
4 |
23 |
N/A |
INTRINSIC |
|
Pfam:p450
|
37 |
497 |
3.6e-143 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228974
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229103
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229904
AA Change: E314G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 92.9%
- 3x: 90.6%
- 10x: 84.5%
- 20x: 71.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam15 |
T |
C |
3: 89,251,139 (GRCm39) |
H522R |
probably benign |
Het |
| Adcy8 |
A |
T |
15: 64,626,666 (GRCm39) |
I724N |
probably damaging |
Het |
| Cdk2ap1rt |
A |
G |
11: 48,716,971 (GRCm39) |
I69T |
possibly damaging |
Het |
| Cstdc6 |
T |
C |
16: 36,143,294 (GRCm39) |
I52V |
probably benign |
Het |
| Ctsj |
A |
T |
13: 61,150,370 (GRCm39) |
C210S |
probably damaging |
Het |
| Dbi |
A |
T |
1: 120,047,642 (GRCm39) |
V85E |
probably damaging |
Het |
| Dhrs7b |
A |
G |
11: 60,742,723 (GRCm39) |
I153M |
possibly damaging |
Het |
| Dock10 |
C |
A |
1: 80,483,163 (GRCm39) |
C2096F |
probably damaging |
Het |
| Eid3 |
T |
A |
10: 82,703,589 (GRCm39) |
I350K |
probably damaging |
Het |
| Fam83b |
A |
T |
9: 76,398,434 (GRCm39) |
F890I |
probably damaging |
Het |
| Fras1 |
G |
A |
5: 96,703,160 (GRCm39) |
D308N |
probably benign |
Het |
| Ftsj3 |
T |
C |
11: 106,140,302 (GRCm39) |
D822G |
unknown |
Het |
| Gabra5 |
T |
C |
7: 57,138,605 (GRCm39) |
T148A |
probably damaging |
Het |
| Gad1 |
A |
G |
2: 70,430,011 (GRCm39) |
D526G |
probably benign |
Het |
| Gm21698 |
T |
A |
5: 26,192,350 (GRCm39) |
T79S |
probably benign |
Het |
| Gon4l |
T |
G |
3: 88,802,821 (GRCm39) |
V1144G |
probably damaging |
Het |
| Ighv1-24 |
A |
T |
12: 114,736,803 (GRCm39) |
N32K |
probably benign |
Het |
| Islr |
T |
C |
9: 58,064,484 (GRCm39) |
N341S |
possibly damaging |
Het |
| Mybph |
A |
G |
1: 134,122,479 (GRCm39) |
T175A |
probably benign |
Het |
| Mycn |
T |
C |
12: 12,990,244 (GRCm39) |
K51E |
possibly damaging |
Het |
| Myh14 |
T |
C |
7: 44,262,906 (GRCm39) |
N1763D |
probably benign |
Het |
| Myrip |
T |
C |
9: 120,296,583 (GRCm39) |
S831P |
probably damaging |
Het |
| Neb |
G |
T |
2: 52,178,814 (GRCm39) |
A1314E |
probably damaging |
Het |
| Notch2 |
T |
C |
3: 98,011,778 (GRCm39) |
Y599H |
probably damaging |
Het |
| Npr1 |
C |
A |
3: 90,369,564 (GRCm39) |
G387V |
probably damaging |
Het |
| Or6e1 |
T |
A |
14: 54,519,995 (GRCm39) |
D119V |
probably damaging |
Het |
| Orai2 |
G |
A |
5: 136,179,364 (GRCm39) |
T223M |
probably damaging |
Het |
| Pcdhga5 |
A |
G |
18: 37,829,910 (GRCm39) |
E786G |
probably benign |
Het |
| Pde6b |
A |
G |
5: 108,576,374 (GRCm39) |
T749A |
probably benign |
Het |
| Pdzrn3 |
A |
G |
6: 101,128,464 (GRCm39) |
V734A |
probably benign |
Het |
| Pkd1l1 |
GCC |
GCCC |
11: 8,866,298 (GRCm39) |
|
probably null |
Het |
| Recql5 |
C |
A |
11: 115,823,682 (GRCm39) |
K21N |
possibly damaging |
Het |
| Rimbp3 |
G |
A |
16: 17,028,580 (GRCm39) |
S668N |
possibly damaging |
Het |
| Sdr42e1 |
A |
T |
8: 118,390,257 (GRCm39) |
I128N |
probably damaging |
Het |
| Shprh |
TAAAA |
T |
10: 11,068,238 (GRCm39) |
|
probably null |
Het |
| Slc15a2 |
A |
T |
16: 36,592,405 (GRCm39) |
C251S |
probably benign |
Het |
| Slc17a4 |
A |
T |
13: 24,086,001 (GRCm39) |
S329T |
probably damaging |
Het |
| Slc35a1 |
A |
G |
4: 34,669,501 (GRCm39) |
V246A |
possibly damaging |
Het |
| Slc37a2 |
A |
T |
9: 37,148,701 (GRCm39) |
S260R |
probably benign |
Het |
| Slco6d1 |
A |
T |
1: 98,351,050 (GRCm39) |
I177L |
possibly damaging |
Het |
| Tmcc1 |
A |
G |
6: 116,020,417 (GRCm39) |
V345A |
|
Het |
| Tmod2 |
T |
C |
9: 75,504,583 (GRCm39) |
Y12C |
probably damaging |
Het |
| Top2a |
A |
T |
11: 98,893,790 (GRCm39) |
W1035R |
probably damaging |
Het |
| Trpc1 |
A |
G |
9: 95,618,974 (GRCm39) |
S126P |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,564,305 (GRCm39) |
S28576P |
probably damaging |
Het |
| Vmn1r16 |
A |
T |
6: 57,299,858 (GRCm39) |
W255R |
probably benign |
Het |
| Vmn2r5 |
T |
A |
3: 64,411,348 (GRCm39) |
K407* |
probably null |
Het |
| Vps13b |
G |
T |
15: 35,534,409 (GRCm39) |
W908C |
probably damaging |
Het |
| Ykt6 |
A |
G |
11: 5,912,747 (GRCm39) |
K150E |
possibly damaging |
Het |
| Zbtb2 |
A |
G |
10: 4,319,265 (GRCm39) |
Y254H |
possibly damaging |
Het |
| Zfp217 |
A |
G |
2: 169,956,503 (GRCm39) |
S832P |
probably benign |
Het |
| Zfp595 |
A |
G |
13: 67,465,949 (GRCm39) |
S108P |
probably benign |
Het |
| Zfp786 |
A |
T |
6: 47,796,756 (GRCm39) |
F727L |
probably damaging |
Het |
| Zzef1 |
G |
A |
11: 72,790,498 (GRCm39) |
V2151I |
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 |
|
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 |
|
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'- TGGCCTCAACCCTTAACATGATTG -3'
(R):5'- AGGACTCTCAAAGGCTGCAG -3'
Sequencing Primer
(F):5'- CCCTTAACATGATTGTAAGACAGGG -3'
(R):5'- CTTGTGAACAAGTTACAAATGGGATG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation