Incidental Mutation 'R7137:Cyp2d12'
| ID |
553150 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2d12
|
| Ensembl Gene |
ENSMUSG00000096852 |
| Gene Name |
cytochrome P450, family 2, subfamily d, polypeptide 12 |
| Synonyms |
9030605E09Rik |
| MMRRC Submission |
045248-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R7137 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
82439244-82443614 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 82442022 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 280
(A280V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071064
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068861]
[ENSMUST00000228974]
[ENSMUST00000229103]
[ENSMUST00000229904]
|
| AlphaFold |
Q8BVD2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068861
AA Change: A280V
PolyPhen 2
Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000071064
Gene: ENSMUSG00000096852
AA Change: A280V
| 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
AA Change: A154V
PolyPhen 2
Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229904
AA Change: A229V
PolyPhen 2
Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
C |
6: 121,654,944 (GRCm39) |
S1423P |
possibly damaging |
Het |
| Acvr1c |
A |
G |
2: 58,173,399 (GRCm39) |
|
probably null |
Het |
| Adgrf5 |
A |
G |
17: 43,761,788 (GRCm39) |
K1161R |
probably damaging |
Het |
| Aoc1l3 |
A |
G |
6: 48,967,083 (GRCm39) |
Y677C |
probably damaging |
Het |
| Arhgap32 |
T |
G |
9: 32,063,232 (GRCm39) |
D80E |
probably benign |
Het |
| Aspg |
T |
C |
12: 112,078,632 (GRCm39) |
V30A |
possibly damaging |
Het |
| Bcl2a1d |
T |
C |
9: 88,613,531 (GRCm39) |
D81G |
probably damaging |
Het |
| Cep170b |
T |
C |
12: 112,701,601 (GRCm39) |
V160A |
probably benign |
Het |
| Ces1c |
T |
C |
8: 93,857,470 (GRCm39) |
Y37C |
probably benign |
Het |
| Cntnap5a |
T |
C |
1: 116,017,106 (GRCm39) |
L233P |
probably damaging |
Het |
| Crem |
C |
A |
18: 3,273,459 (GRCm39) |
A245S |
possibly damaging |
Het |
| Dnah2 |
C |
T |
11: 69,382,381 (GRCm39) |
G1243D |
probably damaging |
Het |
| Eif1ad19 |
A |
T |
12: 87,740,316 (GRCm39) |
L81Q |
possibly damaging |
Het |
| Emcn |
T |
G |
3: 137,109,752 (GRCm39) |
N131K |
probably damaging |
Het |
| Fat3 |
A |
T |
9: 15,908,444 (GRCm39) |
D2519E |
probably damaging |
Het |
| Fibin |
T |
A |
2: 110,193,001 (GRCm39) |
D47V |
probably damaging |
Het |
| Fsd1 |
G |
A |
17: 56,300,876 (GRCm39) |
R245H |
probably damaging |
Het |
| Gimap8 |
C |
A |
6: 48,627,187 (GRCm39) |
L54I |
probably damaging |
Het |
| Gm20481 |
A |
G |
17: 35,189,071 (GRCm39) |
Y27C |
unknown |
Het |
| Grin1 |
T |
G |
2: 25,203,550 (GRCm39) |
M154L |
probably benign |
Het |
| Ighv8-13 |
A |
G |
12: 115,729,197 (GRCm39) |
L20P |
probably damaging |
Het |
| Insc |
G |
A |
7: 114,410,850 (GRCm39) |
V236I |
probably benign |
Het |
| Lrrk1 |
A |
G |
7: 65,935,027 (GRCm39) |
F1031L |
probably benign |
Het |
| Man2a2 |
C |
A |
7: 80,009,499 (GRCm39) |
R785L |
probably benign |
Het |
| Mcur1 |
C |
A |
13: 43,697,931 (GRCm39) |
|
probably null |
Het |
| Med12l |
A |
C |
3: 59,165,675 (GRCm39) |
R1464S |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,520,115 (GRCm39) |
M767K |
possibly damaging |
Het |
| Naalad2 |
T |
C |
9: 18,234,783 (GRCm39) |
I762V |
probably benign |
Het |
| Nfkbid |
A |
G |
7: 30,125,681 (GRCm39) |
T357A |
possibly damaging |
Het |
| Pcdh17 |
A |
G |
14: 84,770,989 (GRCm39) |
R1156G |
possibly damaging |
Het |
| Pcdhb1 |
T |
C |
18: 37,400,445 (GRCm39) |
S799P |
possibly damaging |
Het |
| Pde3a |
A |
T |
6: 141,444,472 (GRCm39) |
E1093D |
probably benign |
Het |
| Plcg1 |
T |
C |
2: 160,595,846 (GRCm39) |
Y572H |
possibly damaging |
Het |
| Plxna4 |
A |
G |
6: 32,494,199 (GRCm39) |
L139P |
probably damaging |
Het |
| Psma1 |
A |
G |
7: 113,873,683 (GRCm39) |
Y6H |
probably damaging |
Het |
| Psmd2 |
A |
G |
16: 20,471,377 (GRCm39) |
E76G |
probably benign |
Het |
| Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
| Pyy |
T |
G |
11: 101,998,099 (GRCm39) |
D27A |
possibly damaging |
Het |
| Slc22a2 |
A |
G |
17: 12,803,228 (GRCm39) |
T21A |
probably benign |
Het |
| Slc25a2 |
T |
C |
18: 37,771,200 (GRCm39) |
I110V |
probably benign |
Het |
| Sult1c2 |
A |
C |
17: 54,145,422 (GRCm39) |
W85G |
probably damaging |
Het |
| Syt12 |
C |
T |
19: 4,503,978 (GRCm39) |
D218N |
probably damaging |
Het |
| Tln1 |
C |
T |
4: 43,540,616 (GRCm39) |
V1462M |
probably damaging |
Het |
| Tor1aip2 |
T |
A |
1: 155,927,722 (GRCm39) |
N33K |
possibly damaging |
Het |
| Usp17lb |
C |
A |
7: 104,490,798 (GRCm39) |
W43L |
probably benign |
Het |
| Vmn1r76 |
A |
G |
7: 11,664,612 (GRCm39) |
Y201H |
possibly damaging |
Het |
| Wnk1 |
C |
A |
6: 120,015,173 (GRCm39) |
|
probably benign |
Het |
| Wrnip1 |
A |
G |
13: 32,986,732 (GRCm39) |
D171G |
probably benign |
Het |
| Zar1 |
T |
A |
5: 72,738,159 (GRCm39) |
N81I |
probably damaging |
Het |
| Zbtb45 |
T |
C |
7: 12,741,083 (GRCm39) |
T392A |
probably benign |
Het |
| Zfp445 |
T |
C |
9: 122,683,843 (GRCm39) |
E272G |
probably 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 |
|
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 |
|
|
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'- CCGTGTCTCTCACAGGTTATTAAC -3'
(R):5'- AAGCTGCTCTCAGGATTTCC -3'
Sequencing Primer
(F):5'- TCACAGGTTATTAACACATTCCCG -3'
(R):5'- GCCACACAGAAAGGATGGTCTC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation