Incidental Mutation 'R1706:Cyp2d10'
ID |
190095 |
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 |
039739-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.096)
|
Stock # |
R1706 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
82287047-82291396 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 82289783 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 140
(S140A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155626
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072776]
[ENSMUST00000229628]
[ENSMUST00000229911]
[ENSMUST00000230198]
[ENSMUST00000230248]
[ENSMUST00000230843]
|
AlphaFold |
P24456 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072776
AA Change: S140A
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000072555 Gene: ENSMUSG00000094806 AA Change: S140A
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 |
possibly damaging
Transcript: ENSMUST00000229628
AA Change: S140A
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229911
AA Change: S140A
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000230198
AA Change: S140A
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230248
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000230843
AA Change: S40A
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
Meta Mutation Damage Score |
0.2098 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.6%
|
Validation Efficiency |
100% (60/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921524L21Rik |
T |
C |
18: 6,624,059 (GRCm39) |
|
probably benign |
Het |
4931406C07Rik |
G |
A |
9: 15,209,153 (GRCm39) |
T47I |
probably damaging |
Het |
Adcy2 |
T |
A |
13: 68,868,865 (GRCm39) |
N558I |
probably damaging |
Het |
Ago3 |
G |
A |
4: 126,264,085 (GRCm39) |
P374S |
probably damaging |
Het |
Ak8 |
T |
C |
2: 28,650,007 (GRCm39) |
C345R |
possibly damaging |
Het |
Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
BC005624 |
T |
C |
2: 30,868,922 (GRCm39) |
E84G |
possibly damaging |
Het |
Cav1 |
T |
C |
6: 17,339,181 (GRCm39) |
F89L |
probably damaging |
Het |
Cfap206 |
G |
A |
4: 34,688,875 (GRCm39) |
P593L |
probably damaging |
Het |
Clcn6 |
G |
A |
4: 148,102,025 (GRCm39) |
T353I |
probably benign |
Het |
Cstl1 |
G |
A |
2: 148,593,079 (GRCm39) |
|
probably null |
Het |
D130052B06Rik |
G |
A |
11: 33,566,230 (GRCm39) |
R18H |
unknown |
Het |
Ddi2 |
A |
G |
4: 141,411,308 (GRCm39) |
F535L |
probably benign |
Het |
Dop1a |
C |
T |
9: 86,436,133 (GRCm39) |
T2383M |
possibly damaging |
Het |
Duox1 |
A |
G |
2: 122,149,953 (GRCm39) |
T115A |
probably benign |
Het |
Ercc6l2 |
T |
A |
13: 64,020,272 (GRCm39) |
|
probably benign |
Het |
Gm7052 |
A |
G |
17: 22,258,823 (GRCm39) |
|
probably benign |
Het |
Gm9925 |
G |
A |
18: 74,198,573 (GRCm39) |
|
probably benign |
Het |
Gnas |
T |
A |
2: 174,141,768 (GRCm39) |
S646T |
possibly damaging |
Het |
Gpatch3 |
T |
A |
4: 133,302,484 (GRCm39) |
C138* |
probably null |
Het |
Igsf8 |
C |
T |
1: 172,144,972 (GRCm39) |
R100C |
probably damaging |
Het |
Kcnh3 |
A |
G |
15: 99,135,959 (GRCm39) |
K652R |
possibly damaging |
Het |
Kcnn4 |
T |
A |
7: 24,074,167 (GRCm39) |
V77E |
probably damaging |
Het |
Kif13b |
T |
A |
14: 64,998,115 (GRCm39) |
|
probably benign |
Het |
Lca5l |
T |
C |
16: 95,977,164 (GRCm39) |
N214S |
probably benign |
Het |
Luc7l3 |
T |
C |
11: 94,188,582 (GRCm39) |
|
probably benign |
Het |
Lypd3 |
T |
C |
7: 24,339,755 (GRCm39) |
I274T |
probably benign |
Het |
Macf1 |
A |
G |
4: 123,264,377 (GRCm39) |
|
probably null |
Het |
Mchr1 |
A |
G |
15: 81,121,364 (GRCm39) |
Y38C |
probably damaging |
Het |
Mia2 |
T |
A |
12: 59,191,552 (GRCm39) |
L716* |
probably null |
Het |
Mki67 |
A |
G |
7: 135,302,295 (GRCm39) |
L913P |
probably benign |
Het |
Mug2 |
T |
A |
6: 122,013,191 (GRCm39) |
|
probably benign |
Het |
Neu3 |
A |
G |
7: 99,472,563 (GRCm39) |
L58P |
probably damaging |
Het |
Or4p23 |
G |
A |
2: 88,576,482 (GRCm39) |
P250L |
probably damaging |
Het |
Or8h9 |
A |
T |
2: 86,789,424 (GRCm39) |
I126N |
probably damaging |
Het |
Pak1ip1 |
T |
C |
13: 41,166,164 (GRCm39) |
V363A |
probably benign |
Het |
Pcdhb16 |
A |
G |
18: 37,612,705 (GRCm39) |
D555G |
probably benign |
Het |
Pygb |
G |
A |
2: 150,669,067 (GRCm39) |
G671D |
probably damaging |
Het |
Rab30 |
A |
T |
7: 92,478,875 (GRCm39) |
I79L |
possibly damaging |
Het |
Rab44 |
C |
A |
17: 29,357,080 (GRCm39) |
T70K |
probably damaging |
Het |
Rccd1 |
C |
G |
7: 79,970,411 (GRCm39) |
G69R |
possibly damaging |
Het |
Sema5b |
T |
C |
16: 35,470,125 (GRCm39) |
V329A |
probably damaging |
Het |
Setd2 |
A |
G |
9: 110,378,932 (GRCm39) |
S632G |
probably benign |
Het |
Slc22a14 |
T |
C |
9: 119,010,050 (GRCm39) |
N15S |
probably benign |
Het |
Smurf2 |
G |
A |
11: 106,715,573 (GRCm39) |
H632Y |
probably damaging |
Het |
Syt10 |
C |
T |
15: 89,674,979 (GRCm39) |
D456N |
probably damaging |
Het |
Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
Tgm6 |
T |
C |
2: 129,987,079 (GRCm39) |
C516R |
possibly damaging |
Het |
Tmprss9 |
T |
C |
10: 80,734,021 (GRCm39) |
|
probably benign |
Het |
Trim67 |
A |
G |
8: 125,521,160 (GRCm39) |
N174S |
probably damaging |
Het |
Ttc8 |
C |
A |
12: 98,910,142 (GRCm39) |
T123K |
probably benign |
Het |
Ugt1a7c |
T |
A |
1: 88,023,447 (GRCm39) |
M202K |
probably damaging |
Het |
Vmn2r7 |
T |
A |
3: 64,598,880 (GRCm39) |
H559L |
possibly damaging |
Het |
Zfp511 |
A |
G |
7: 139,617,192 (GRCm39) |
D96G |
probably benign |
Het |
Zfp868 |
A |
G |
8: 70,065,060 (GRCm39) |
Y92H |
probably benign |
Het |
Zzz3 |
T |
A |
3: 152,154,735 (GRCm39) |
D633E |
probably damaging |
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 |
|
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 |
R4531:Cyp2d10
|
UTSW |
15 |
82,289,462 (GRCm39) |
missense |
probably benign |
0.31 |
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'- GCAAGCAAGTCAATGGACTGCC -3'
(R):5'- CCTCAAGTGCCCATCTTTGAGTACC -3'
Sequencing Primer
(F):5'- AGTCAATGGACTGCCCATGTC -3'
(R):5'- TTCACAGAAGAGTCACTGGAATC -3'
|
Posted On |
2014-05-14 |