Incidental Mutation 'R3707:Cyp2d10'
ID |
258767 |
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 |
040700-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R3707 (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: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
Validation Efficiency |
97% (37/38) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
Avpr1a |
T |
A |
10: 122,285,014 (GRCm39) |
F102Y |
probably damaging |
Het |
Bcs1l |
A |
G |
1: 74,629,264 (GRCm39) |
|
probably benign |
Het |
Chrng |
C |
T |
1: 87,138,333 (GRCm39) |
Q375* |
probably null |
Het |
Cplane1 |
T |
C |
15: 8,289,300 (GRCm39) |
S2917P |
unknown |
Het |
Dennd6a |
T |
C |
14: 26,313,546 (GRCm39) |
|
probably benign |
Het |
Eef2k |
C |
A |
7: 120,483,935 (GRCm39) |
L224I |
probably damaging |
Het |
Gm10033 |
G |
C |
8: 69,825,068 (GRCm39) |
|
noncoding transcript |
Het |
Gm11545 |
T |
C |
11: 94,648,385 (GRCm39) |
|
noncoding transcript |
Het |
Herpud1 |
T |
A |
8: 95,118,867 (GRCm39) |
V207D |
probably damaging |
Het |
Hmbox1 |
T |
C |
14: 65,134,285 (GRCm39) |
Y105C |
probably benign |
Het |
Ighv1-85 |
A |
T |
12: 115,963,836 (GRCm39) |
W55R |
probably damaging |
Het |
Lgr4 |
T |
C |
2: 109,801,099 (GRCm39) |
L83P |
probably damaging |
Het |
Lrch1 |
C |
T |
14: 75,095,437 (GRCm39) |
M134I |
probably damaging |
Het |
Macrod2 |
C |
A |
2: 141,652,549 (GRCm39) |
T204K |
probably damaging |
Het |
Mtg1 |
A |
T |
7: 139,729,717 (GRCm39) |
K269M |
probably damaging |
Het |
Nkain3 |
A |
T |
4: 20,484,920 (GRCm39) |
F52L |
possibly damaging |
Het |
Nr4a3 |
A |
T |
4: 48,056,699 (GRCm39) |
Y417F |
probably damaging |
Het |
Or12e10 |
T |
C |
2: 87,640,520 (GRCm39) |
C119R |
probably damaging |
Het |
Or6c8 |
T |
A |
10: 128,915,254 (GRCm39) |
I193F |
probably benign |
Het |
Pappa2 |
A |
T |
1: 158,662,488 (GRCm39) |
Y1162* |
probably null |
Het |
Pdhb |
T |
C |
14: 8,170,409 (GRCm38) |
N114S |
probably damaging |
Het |
Pigc |
T |
A |
1: 161,798,663 (GRCm39) |
M215K |
probably benign |
Het |
Pimreg |
G |
A |
11: 71,937,158 (GRCm39) |
|
probably benign |
Het |
Ppfia4 |
T |
C |
1: 134,237,398 (GRCm39) |
E967G |
probably damaging |
Het |
Resf1 |
C |
T |
6: 149,230,611 (GRCm39) |
S1219L |
probably damaging |
Het |
Rif1 |
T |
A |
2: 51,983,592 (GRCm39) |
D578E |
probably damaging |
Het |
Rrbp1 |
G |
T |
2: 143,795,197 (GRCm39) |
A1269E |
probably benign |
Het |
Rufy3 |
G |
A |
5: 88,790,891 (GRCm39) |
A531T |
probably benign |
Het |
Slc22a22 |
C |
A |
15: 57,114,369 (GRCm39) |
L319F |
probably damaging |
Het |
Tapbpl |
A |
G |
6: 125,201,658 (GRCm39) |
|
probably null |
Het |
Tdrd1 |
T |
C |
19: 56,854,425 (GRCm39) |
S1124P |
possibly damaging |
Het |
Top2a |
T |
C |
11: 98,887,651 (GRCm39) |
K1286E |
probably benign |
Het |
Top2b |
T |
C |
14: 16,388,447 (GRCm38) |
V188A |
probably damaging |
Het |
Vmn2r4 |
A |
T |
3: 64,296,895 (GRCm39) |
I630N |
probably damaging |
Het |
Vmn2r53 |
T |
C |
7: 12,315,981 (GRCm39) |
T613A |
possibly damaging |
Het |
Zbtb40 |
A |
G |
4: 136,726,879 (GRCm39) |
Y486H |
probably damaging |
Het |
Zfp715 |
T |
C |
7: 42,960,553 (GRCm39) |
T13A |
probably benign |
Het |
Zfx |
A |
G |
X: 93,142,413 (GRCm39) |
V36A |
possibly 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 |
|
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 |
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'- GTCTGAAGACCCAGCAAGAG -3'
(R):5'- ATGCCATTCTCAGCAGGTGC -3'
Sequencing Primer
(F):5'- CTGGGATTGAAGCAGAAAACAGC -3'
(R):5'- ATTCTCAGCAGGTGCCTGGG -3'
|
Posted On |
2015-01-23 |