Incidental Mutation 'R3708:Cyp2d10'
| ID |
259457 |
| 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 |
040701-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R3708 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
82287047-82291396 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 82287217 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 469
(F469L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072555
(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: F469L
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000072555
Gene: ENSMUSG00000094806
AA Change: F469L
| 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: ENSMUST00000183705
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229628
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229911
AA Change: F300L
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| Predicted Effect |
silent
Transcript: ENSMUST00000230198
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230248
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230843
|
| Meta Mutation Damage Score |
0.0698 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 92.1%
|
| Validation Efficiency |
98% (51/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Abcc5 |
G |
T |
16: 20,190,930 (GRCm39) |
Q807K |
probably benign |
Het |
| Amfr |
T |
C |
8: 94,709,948 (GRCm39) |
H419R |
probably benign |
Het |
| Atp8b2 |
A |
T |
3: 89,852,459 (GRCm39) |
F866I |
probably damaging |
Het |
| Atxn7l3 |
G |
A |
11: 102,182,705 (GRCm39) |
|
probably benign |
Het |
| Bcs1l |
A |
G |
1: 74,629,264 (GRCm39) |
|
probably benign |
Het |
| Card11 |
G |
A |
5: 140,872,890 (GRCm39) |
R608C |
probably damaging |
Het |
| Celf2 |
C |
A |
2: 6,629,489 (GRCm39) |
K137N |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,231,874 (GRCm39) |
Y1071* |
probably null |
Het |
| Cyp3a41a |
A |
G |
5: 145,654,733 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
A |
T |
17: 30,958,631 (GRCm39) |
I2158L |
probably damaging |
Het |
| Dtnb |
T |
A |
12: 3,639,156 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
T |
C |
12: 110,609,563 (GRCm39) |
F2782L |
probably damaging |
Het |
| Ednrb |
A |
G |
14: 104,054,516 (GRCm39) |
Y439H |
probably damaging |
Het |
| Ferd3l |
T |
C |
12: 33,978,748 (GRCm39) |
V87A |
probably benign |
Het |
| Gphn |
T |
A |
12: 78,579,467 (GRCm39) |
S320T |
probably benign |
Het |
| Gpr39 |
C |
T |
1: 125,800,349 (GRCm39) |
H367Y |
probably damaging |
Het |
| Hspa4l |
A |
T |
3: 40,736,125 (GRCm39) |
N582I |
possibly damaging |
Het |
| Ighv1-85 |
A |
T |
12: 115,963,836 (GRCm39) |
W55R |
probably damaging |
Het |
| Lelp1 |
A |
C |
3: 92,042,714 (GRCm39) |
C112G |
unknown |
Het |
| Lrba |
A |
G |
3: 86,192,331 (GRCm39) |
M82V |
possibly damaging |
Het |
| Macrod2 |
C |
A |
2: 141,652,549 (GRCm39) |
T204K |
probably damaging |
Het |
| Map2 |
A |
T |
1: 66,455,714 (GRCm39) |
|
probably benign |
Het |
| Ncor1 |
T |
C |
11: 62,235,513 (GRCm39) |
K647R |
probably damaging |
Het |
| Nr4a3 |
A |
T |
4: 48,056,699 (GRCm39) |
Y417F |
probably damaging |
Het |
| Nup50l |
G |
A |
6: 96,142,933 (GRCm39) |
T37I |
possibly damaging |
Het |
| Obox7 |
C |
A |
7: 14,398,122 (GRCm39) |
S54* |
probably null |
Het |
| Or2n1c |
A |
G |
17: 38,519,174 (GRCm39) |
I13V |
probably benign |
Het |
| Or52r1c |
T |
G |
7: 102,735,501 (GRCm39) |
Y254D |
probably damaging |
Het |
| Or8b101 |
T |
C |
9: 38,020,740 (GRCm39) |
S253P |
probably damaging |
Het |
| Or9g20 |
T |
A |
2: 85,630,342 (GRCm39) |
I91L |
probably benign |
Het |
| Pappa2 |
A |
T |
1: 158,662,488 (GRCm39) |
Y1162* |
probably null |
Het |
| Pcdhb19 |
T |
A |
18: 37,630,442 (GRCm39) |
I79K |
probably benign |
Het |
| Pi4k2a |
C |
T |
19: 42,079,370 (GRCm39) |
Q144* |
probably null |
Het |
| Pigc |
T |
A |
1: 161,798,663 (GRCm39) |
M215K |
probably benign |
Het |
| Pnma8a |
T |
A |
7: 16,694,150 (GRCm39) |
S2T |
probably damaging |
Het |
| Ppfia4 |
T |
C |
1: 134,237,398 (GRCm39) |
E967G |
probably damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rims3 |
A |
G |
4: 120,740,352 (GRCm39) |
T100A |
probably damaging |
Het |
| Serpinb9 |
A |
T |
13: 33,192,002 (GRCm39) |
N61I |
possibly damaging |
Het |
| Sis |
A |
G |
3: 72,850,856 (GRCm39) |
M614T |
probably benign |
Het |
| Slc6a17 |
C |
T |
3: 107,400,401 (GRCm39) |
V243I |
probably benign |
Het |
| Smad9 |
A |
T |
3: 54,693,602 (GRCm39) |
Y177F |
probably benign |
Het |
| Vmn2r69 |
T |
C |
7: 85,061,029 (GRCm39) |
D185G |
probably damaging |
Het |
| Vps36 |
G |
T |
8: 22,682,899 (GRCm39) |
V5L |
probably benign |
Het |
| Vwa8 |
T |
A |
14: 79,300,136 (GRCm39) |
|
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 |
|
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 |
|
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'- ATTGTCTGAAGACCCAGCAAG -3'
(R):5'- ATGCCATTCTCAGCAGGTGC -3'
Sequencing Primer
(F):5'- TCTGAAGACCCAGCAAGAGAGG -3'
(R):5'- ATTCTCAGCAGGTGCCTGGG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation