Incidental Mutation 'R0102:Cyp2d10'
| ID |
63309 |
| 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 |
038388-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R0102 (G1)
|
| Quality Score |
216 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
82287047-82291396 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 82288794 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 229
(M229I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155626
(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: M229I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000072555
Gene: ENSMUSG00000094806
AA Change: M229I
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230198
AA Change: M229I
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230248
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230843
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.5%
- 20x: 91.8%
|
| Validation Efficiency |
98% (65/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,773,874 (GRCm39) |
K1021R |
probably damaging |
Het |
| 2610528J11Rik |
G |
A |
4: 118,386,762 (GRCm39) |
V36M |
probably damaging |
Het |
| 4930402F06Rik |
T |
A |
2: 35,265,795 (GRCm39) |
R292* |
probably null |
Het |
| Abcb4 |
T |
C |
5: 8,959,194 (GRCm39) |
F207S |
probably damaging |
Het |
| Afap1l2 |
G |
T |
19: 56,916,872 (GRCm39) |
|
probably benign |
Het |
| Arfgef2 |
A |
T |
2: 166,687,385 (GRCm39) |
H203L |
probably benign |
Het |
| Cfi |
A |
C |
3: 129,642,416 (GRCm39) |
H90P |
probably damaging |
Het |
| Col1a2 |
T |
A |
6: 4,520,775 (GRCm39) |
S371T |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,245,897 (GRCm39) |
|
probably benign |
Het |
| Dnttip2 |
G |
T |
3: 122,069,452 (GRCm39) |
M222I |
probably benign |
Het |
| Dync1li2 |
A |
T |
8: 105,154,757 (GRCm39) |
Y284N |
probably benign |
Het |
| Ebf1 |
T |
C |
11: 44,882,282 (GRCm39) |
Y413H |
probably benign |
Het |
| Exog |
A |
G |
9: 119,281,319 (GRCm39) |
T186A |
possibly damaging |
Het |
| Fam171a2 |
T |
C |
11: 102,334,939 (GRCm39) |
N66S |
possibly damaging |
Het |
| Gad1 |
G |
A |
2: 70,417,583 (GRCm39) |
|
probably null |
Het |
| Golgb1 |
C |
A |
16: 36,695,830 (GRCm39) |
|
probably benign |
Het |
| Gprc5a |
A |
T |
6: 135,056,033 (GRCm39) |
N160I |
probably damaging |
Het |
| Haus3 |
A |
G |
5: 34,323,258 (GRCm39) |
|
probably null |
Het |
| Klhl20 |
A |
T |
1: 160,918,015 (GRCm39) |
C90* |
probably null |
Het |
| Krt84 |
T |
A |
15: 101,437,138 (GRCm39) |
I342L |
probably damaging |
Het |
| Lifr |
G |
A |
15: 7,208,373 (GRCm39) |
D584N |
probably damaging |
Het |
| Lrp1b |
G |
A |
2: 41,298,997 (GRCm39) |
|
probably benign |
Het |
| Lrtm1 |
T |
A |
14: 28,744,184 (GRCm39) |
|
probably benign |
Het |
| Med25 |
C |
T |
7: 44,534,904 (GRCm39) |
V80I |
possibly damaging |
Het |
| Mest |
A |
G |
6: 30,746,269 (GRCm39) |
I279V |
probably damaging |
Het |
| Mki67 |
T |
C |
7: 135,315,532 (GRCm39) |
R81G |
probably benign |
Het |
| Naa25 |
A |
G |
5: 121,573,632 (GRCm39) |
D787G |
possibly damaging |
Het |
| Naaladl1 |
C |
T |
19: 6,162,534 (GRCm39) |
P465S |
probably damaging |
Het |
| Nanos3 |
C |
T |
8: 84,902,763 (GRCm39) |
R133Q |
probably damaging |
Het |
| Necab3 |
G |
A |
2: 154,387,232 (GRCm39) |
R302C |
probably damaging |
Het |
| Nsg1 |
A |
T |
5: 38,316,254 (GRCm39) |
D32E |
probably damaging |
Het |
| Nuggc |
A |
G |
14: 65,851,000 (GRCm39) |
D290G |
probably null |
Het |
| Nup205 |
A |
T |
6: 35,202,715 (GRCm39) |
|
probably benign |
Het |
| Or11g27 |
T |
A |
14: 50,771,088 (GRCm39) |
L73Q |
probably damaging |
Het |
| Or2w6 |
T |
C |
13: 21,842,905 (GRCm39) |
D196G |
probably damaging |
Het |
| Or4a77 |
T |
C |
2: 89,486,999 (GRCm39) |
N262S |
probably benign |
Het |
| Or4c111 |
T |
C |
2: 88,844,015 (GRCm39) |
Y131C |
probably damaging |
Het |
| Or4f57 |
G |
C |
2: 111,790,942 (GRCm39) |
Q159E |
probably damaging |
Het |
| Or8h10 |
A |
T |
2: 86,808,549 (GRCm39) |
I197N |
possibly damaging |
Het |
| Otp |
T |
C |
13: 95,013,663 (GRCm39) |
V27A |
probably benign |
Het |
| Phip |
A |
T |
9: 82,787,845 (GRCm39) |
|
probably null |
Het |
| Pon2 |
A |
G |
6: 5,289,091 (GRCm39) |
|
probably benign |
Het |
| Ppp1r12b |
T |
A |
1: 134,763,637 (GRCm39) |
|
probably null |
Het |
| Ppp1r15b |
A |
G |
1: 133,060,908 (GRCm39) |
N475S |
probably damaging |
Het |
| Prrt3 |
A |
T |
6: 113,474,790 (GRCm39) |
L144H |
probably damaging |
Het |
| Psmb7 |
A |
G |
2: 38,533,377 (GRCm39) |
V50A |
possibly damaging |
Het |
| Sacs |
T |
A |
14: 61,442,017 (GRCm39) |
S1354R |
probably damaging |
Het |
| Sdcbp2 |
A |
G |
2: 151,425,884 (GRCm39) |
T29A |
probably benign |
Het |
| Shbg |
T |
A |
11: 69,508,415 (GRCm39) |
|
probably benign |
Het |
| Shcbp1 |
A |
G |
8: 4,794,452 (GRCm39) |
I447T |
probably damaging |
Het |
| Tbc1d9b |
T |
C |
11: 50,026,676 (GRCm39) |
V48A |
probably damaging |
Het |
| Thbd |
A |
T |
2: 148,248,903 (GRCm39) |
C322S |
probably damaging |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Trappc12 |
A |
T |
12: 28,796,751 (GRCm39) |
F260L |
probably damaging |
Het |
| Trim10 |
C |
A |
17: 37,181,074 (GRCm39) |
H102N |
probably damaging |
Het |
| Ube2u |
A |
G |
4: 100,407,122 (GRCm39) |
T215A |
possibly damaging |
Het |
| Vcan |
T |
G |
13: 89,851,787 (GRCm39) |
T1058P |
probably benign |
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 |
|
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 |
|
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'- TCTCTATCTCTGCCAGGAAGGCATC -3'
(R):5'- TCCATTGTGAAGGAGGCTGGAAAC -3'
Sequencing Primer
(F):5'- CAGGAAGGCATCAGTCAAATTTC -3'
(R):5'- caaatggtgggtgggtaagg -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation