Incidental Mutation 'R5746:Cyp2d10'
ID |
445799 |
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 |
043199-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R5746 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
82287047-82291396 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 82289472 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 213
(E213D)
|
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: E213D
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000072555 Gene: ENSMUSG00000094806 AA Change: E213D
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: E213D
PolyPhen 2
Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230198
AA Change: E213D
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230248
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230843
AA Change: E113D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adora3 |
A |
G |
3: 105,815,126 (GRCm39) |
E292G |
possibly damaging |
Het |
Ank1 |
C |
T |
8: 23,606,612 (GRCm39) |
T1187I |
probably damaging |
Het |
Ankrd16 |
T |
A |
2: 11,789,178 (GRCm39) |
I255K |
probably damaging |
Het |
Atp6ap1l |
T |
C |
13: 91,031,698 (GRCm39) |
N328S |
probably benign |
Het |
Cbln3 |
A |
G |
14: 56,120,601 (GRCm39) |
S144P |
probably damaging |
Het |
Cdh12 |
T |
A |
15: 21,358,810 (GRCm39) |
L78Q |
probably null |
Het |
Cpsf1 |
C |
T |
15: 76,484,037 (GRCm39) |
R761H |
probably benign |
Het |
Gba2 |
T |
C |
4: 43,568,465 (GRCm39) |
|
probably null |
Het |
Glb1l2 |
G |
A |
9: 26,708,086 (GRCm39) |
A29V |
probably benign |
Het |
Gm11149 |
C |
T |
9: 49,457,494 (GRCm39) |
G393S |
probably damaging |
Het |
Igkv6-29 |
C |
A |
6: 70,115,584 (GRCm39) |
G70V |
possibly damaging |
Het |
Kcnma1 |
T |
C |
14: 23,544,635 (GRCm39) |
N574S |
probably damaging |
Het |
Kdm2b |
A |
G |
5: 123,017,427 (GRCm39) |
V1099A |
probably damaging |
Het |
Kel |
C |
T |
6: 41,675,961 (GRCm39) |
G243E |
probably damaging |
Het |
Ly6g |
A |
T |
15: 75,028,596 (GRCm39) |
N19Y |
possibly damaging |
Het |
Nexn |
TCTTCCTTC |
TCTTC |
3: 151,948,513 (GRCm39) |
|
probably benign |
Het |
Nod2 |
T |
C |
8: 89,390,970 (GRCm39) |
S411P |
probably damaging |
Het |
Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
Ptpn14 |
G |
A |
1: 189,578,610 (GRCm39) |
|
probably null |
Het |
Smg6 |
G |
A |
11: 75,030,113 (GRCm39) |
G211E |
probably damaging |
Het |
Stx16 |
G |
A |
2: 173,935,292 (GRCm39) |
G156R |
probably damaging |
Het |
Tbc1d15 |
T |
C |
10: 115,046,184 (GRCm39) |
S440G |
probably damaging |
Het |
Tpm2 |
A |
G |
4: 43,519,731 (GRCm39) |
V85A |
possibly damaging |
Het |
Ttf1 |
G |
T |
2: 28,955,754 (GRCm39) |
A373S |
probably damaging |
Het |
Vmn2r11 |
T |
A |
5: 109,201,560 (GRCm39) |
T315S |
probably benign |
Het |
Zcchc14 |
T |
C |
8: 122,331,378 (GRCm39) |
|
probably benign |
Het |
Zfp146 |
T |
C |
7: 29,861,818 (GRCm39) |
S75G |
probably benign |
Het |
Zfp994 |
A |
G |
17: 22,420,254 (GRCm39) |
Y232H |
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 |
|
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 |
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'- TGTCATCTAACAGTTGTCAACAGTC -3'
(R):5'- AGACACCTCTGTGATGCCTTC -3'
Sequencing Primer
(F):5'- GTCAACAGTCATATCCTTCTGGAG -3'
(R):5'- TGATGCCTTCACCGCCCAG -3'
|
Posted On |
2016-11-21 |