Incidental Mutation 'R4531:Cyp2d10'
| ID |
333123 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2d10
|
| Ensembl Gene |
ENSMUSG00000094806 |
| Gene Name |
cytochrome P450, family 2, subfamily d, polypeptide 10 |
| Synonyms |
P450-2D, Cyp2d |
| MMRRC Submission |
041771-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R4531 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
82287047-82291396 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 82289462 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 217
(T217S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155800
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072776]
[ENSMUST00000229628]
[ENSMUST00000229911]
[ENSMUST00000230198]
[ENSMUST00000230248]
[ENSMUST00000230843]
|
| AlphaFold |
P24456 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072776
AA Change: T217S
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000072555
Gene: ENSMUSG00000094806
AA Change: T217S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
4 |
26 |
N/A |
INTRINSIC |
|
Pfam:p450
|
37 |
497 |
6e-143 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000102440
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183705
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229628
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229911
AA Change: T217S
PolyPhen 2
Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230198
AA Change: T217S
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230248
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230843
AA Change: T117S
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
97% (35/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad12 |
T |
C |
5: 121,736,962 (GRCm39) |
T526A |
probably benign |
Het |
| Acad12 |
T |
C |
5: 121,736,964 (GRCm39) |
Q525R |
probably benign |
Het |
| Cnot3 |
T |
C |
7: 3,661,073 (GRCm39) |
V558A |
probably benign |
Het |
| Cntnap4 |
G |
A |
8: 113,537,240 (GRCm39) |
V704M |
possibly damaging |
Het |
| Col22a1 |
T |
C |
15: 71,878,998 (GRCm39) |
D53G |
probably damaging |
Het |
| Cspp1 |
T |
A |
1: 10,137,072 (GRCm39) |
|
probably benign |
Het |
| Dcaf6 |
T |
C |
1: 165,239,036 (GRCm39) |
T229A |
probably damaging |
Het |
| E4f1 |
A |
T |
17: 24,664,961 (GRCm39) |
S408T |
possibly damaging |
Het |
| Eif1ad19 |
G |
A |
12: 87,740,314 (GRCm39) |
Q82* |
probably null |
Het |
| Gpr149 |
A |
G |
3: 62,510,099 (GRCm39) |
F339L |
probably benign |
Het |
| Hmbox1 |
A |
T |
14: 65,062,938 (GRCm39) |
C413S |
probably benign |
Het |
| Kmo |
T |
C |
1: 175,487,273 (GRCm39) |
|
probably null |
Het |
| Lin54 |
G |
A |
5: 100,594,419 (GRCm39) |
T582I |
possibly damaging |
Het |
| Lrpprc |
T |
C |
17: 85,020,215 (GRCm39) |
I1157V |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,898,700 (GRCm39) |
|
probably benign |
Het |
| Or14c40 |
T |
A |
7: 86,313,479 (GRCm39) |
L203H |
probably benign |
Het |
| Or8k23 |
A |
T |
2: 86,186,318 (GRCm39) |
M136K |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,825,422 (GRCm39) |
D4657G |
unknown |
Het |
| Pgd |
T |
C |
4: 149,241,234 (GRCm39) |
K225R |
probably benign |
Het |
| Poli |
A |
T |
18: 70,650,548 (GRCm39) |
H297Q |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slc24a2 |
T |
C |
4: 86,909,715 (GRCm39) |
I668V |
possibly damaging |
Het |
| Tdrd6 |
A |
G |
17: 43,939,645 (GRCm39) |
S468P |
probably damaging |
Het |
| Trav6-4 |
A |
G |
14: 53,691,790 (GRCm39) |
T3A |
probably benign |
Het |
| Trpc2 |
G |
T |
7: 101,745,205 (GRCm39) |
R807L |
probably damaging |
Het |
| Ttc3 |
T |
A |
16: 94,267,736 (GRCm39) |
|
probably benign |
Het |
| Tubgcp3 |
G |
T |
8: 12,713,932 (GRCm39) |
L62I |
probably damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Vwce |
A |
C |
19: 10,641,710 (GRCm39) |
E812A |
probably benign |
Het |
| Zmynd12 |
T |
C |
4: 119,280,194 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Cyp2d10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00490:Cyp2d10
|
APN |
15 |
82,287,515 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL00840:Cyp2d10
|
APN |
15 |
82,288,691 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL01293:Cyp2d10
|
APN |
15 |
82,287,210 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01339:Cyp2d10
|
APN |
15 |
82,288,042 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL01871:Cyp2d10
|
APN |
15 |
82,288,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02132:Cyp2d10
|
APN |
15 |
82,288,808 (GRCm39) |
intron |
probably benign |
|
|
IGL02713:Cyp2d10
|
APN |
15 |
82,290,283 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02869:Cyp2d10
|
APN |
15 |
82,288,069 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0102:Cyp2d10
|
UTSW |
15 |
82,288,794 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0102:Cyp2d10
|
UTSW |
15 |
82,288,794 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0279:Cyp2d10
|
UTSW |
15 |
82,289,540 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0331:Cyp2d10
|
UTSW |
15 |
82,291,227 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1344:Cyp2d10
|
UTSW |
15 |
82,290,106 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1418:Cyp2d10
|
UTSW |
15 |
82,290,106 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1465:Cyp2d10
|
UTSW |
15 |
82,288,129 (GRCm39) |
splice site |
probably null |
|
|
R1465:Cyp2d10
|
UTSW |
15 |
82,288,129 (GRCm39) |
splice site |
probably null |
|
|
R1706:Cyp2d10
|
UTSW |
15 |
82,289,783 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1712:Cyp2d10
|
UTSW |
15 |
82,287,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1940:Cyp2d10
|
UTSW |
15 |
82,289,495 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1983:Cyp2d10
|
UTSW |
15 |
82,290,200 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2056:Cyp2d10
|
UTSW |
15 |
82,288,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2058:Cyp2d10
|
UTSW |
15 |
82,288,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3707:Cyp2d10
|
UTSW |
15 |
82,287,217 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3708:Cyp2d10
|
UTSW |
15 |
82,287,217 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4042:Cyp2d10
|
UTSW |
15 |
82,290,269 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4694:Cyp2d10
|
UTSW |
15 |
82,288,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4869:Cyp2d10
|
UTSW |
15 |
82,287,967 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5071:Cyp2d10
|
UTSW |
15 |
82,287,954 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5072:Cyp2d10
|
UTSW |
15 |
82,287,954 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5073:Cyp2d10
|
UTSW |
15 |
82,287,954 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5074:Cyp2d10
|
UTSW |
15 |
82,287,954 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5746:Cyp2d10
|
UTSW |
15 |
82,289,472 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7096:Cyp2d10
|
UTSW |
15 |
82,289,462 (GRCm39) |
missense |
probably benign |
|
|
R7212:Cyp2d10
|
UTSW |
15 |
82,288,447 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7324:Cyp2d10
|
UTSW |
15 |
82,287,961 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7487:Cyp2d10
|
UTSW |
15 |
82,288,793 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7915:Cyp2d10
|
UTSW |
15 |
82,288,628 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9071:Cyp2d10
|
UTSW |
15 |
82,288,361 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9460:Cyp2d10
|
UTSW |
15 |
82,289,470 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0063:Cyp2d10
|
UTSW |
15 |
82,290,201 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGAAGGCCCAGGTTCTCTC -3'
(R):5'- GACACCTCTGTGATGCCTTC -3'
Sequencing Primer
(F):5'- TCTGGAAATACTAACCTTGGTCCAC -3'
(R):5'- TGATGCCTTCACCGCCCAG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation