Incidental Mutation 'R5397:Cyp2d11'
ID |
429771 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2d11
|
Ensembl Gene |
ENSMUSG00000068085 |
Gene Name |
cytochrome P450, family 2, subfamily d, polypeptide 11 |
Synonyms |
P450-2D, Cyp2d |
MMRRC Submission |
042968-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.119)
|
Stock # |
R5397 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
82273355-82278223 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 82276279 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 131
(W131R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130338
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170255]
|
AlphaFold |
P24457 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000170255
AA Change: W131R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130338 Gene: ENSMUSG00000068085 AA Change: W131R
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
26 |
N/A |
INTRINSIC |
Pfam:p450
|
37 |
497 |
7.7e-140 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183858
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acox2 |
T |
C |
14: 8,243,803 (GRCm38) |
T518A |
probably benign |
Het |
Acvr1b |
T |
A |
15: 101,096,845 (GRCm39) |
V254D |
probably damaging |
Het |
Adar |
T |
C |
3: 89,642,626 (GRCm39) |
I169T |
probably benign |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Arap1 |
A |
T |
7: 101,034,119 (GRCm39) |
Q187L |
possibly damaging |
Het |
Atad5 |
T |
A |
11: 80,002,319 (GRCm39) |
M1037K |
probably damaging |
Het |
Bsg |
T |
A |
10: 79,544,629 (GRCm39) |
W56R |
probably damaging |
Het |
C1qtnf3 |
A |
G |
15: 10,978,627 (GRCm39) |
T276A |
probably damaging |
Het |
Capn2 |
A |
G |
1: 182,298,271 (GRCm39) |
C665R |
probably damaging |
Het |
Cast |
A |
G |
13: 74,869,056 (GRCm39) |
S248P |
possibly damaging |
Het |
Cd68 |
C |
T |
11: 69,556,484 (GRCm39) |
V108I |
probably benign |
Het |
Dhx58 |
A |
G |
11: 100,594,746 (GRCm39) |
V50A |
probably damaging |
Het |
Fam124a |
A |
G |
14: 62,843,838 (GRCm39) |
S449G |
probably benign |
Het |
Flnc |
G |
A |
6: 29,441,160 (GRCm39) |
M371I |
possibly damaging |
Het |
Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
Gpr149 |
A |
G |
3: 62,438,226 (GRCm39) |
S644P |
probably damaging |
Het |
Gucy1b1 |
G |
A |
3: 81,951,458 (GRCm39) |
T274I |
possibly damaging |
Het |
Kcnq5 |
A |
G |
1: 21,476,080 (GRCm39) |
V541A |
probably damaging |
Het |
Kdm5b |
G |
A |
1: 134,549,836 (GRCm39) |
|
probably null |
Het |
Lig4 |
G |
T |
8: 10,022,644 (GRCm39) |
R379S |
probably benign |
Het |
Map7 |
G |
A |
10: 20,149,067 (GRCm39) |
R514Q |
unknown |
Het |
Mertk |
T |
A |
2: 128,613,384 (GRCm39) |
F467I |
possibly damaging |
Het |
Mettl4 |
A |
T |
17: 95,034,705 (GRCm39) |
Y463* |
probably null |
Het |
Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
Nme8 |
T |
C |
13: 19,878,549 (GRCm39) |
D70G |
probably damaging |
Het |
Npat |
A |
G |
9: 53,481,774 (GRCm39) |
N1161D |
probably damaging |
Het |
Or4k77 |
T |
A |
2: 111,199,285 (GRCm39) |
C103S |
probably benign |
Het |
Or51ac3 |
T |
A |
7: 103,213,713 (GRCm39) |
I258F |
probably damaging |
Het |
Or6c76b |
T |
C |
10: 129,692,579 (GRCm39) |
F64S |
probably damaging |
Het |
Paxip1 |
A |
T |
5: 27,977,002 (GRCm39) |
|
probably benign |
Het |
Peg10 |
C |
CTCG |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
Plxnc1 |
T |
C |
10: 94,679,614 (GRCm39) |
T923A |
probably benign |
Het |
Pms1 |
T |
A |
1: 53,231,279 (GRCm39) |
K857* |
probably null |
Het |
Ppp1r9b |
A |
G |
11: 94,892,936 (GRCm39) |
E260G |
probably damaging |
Het |
Prpf3 |
A |
T |
3: 95,760,891 (GRCm39) |
S4T |
probably benign |
Het |
Rdh14 |
T |
A |
12: 10,444,869 (GRCm39) |
V240D |
probably damaging |
Het |
Ripply1 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
X: 138,680,599 (GRCm39) |
|
probably benign |
Het |
S100a1 |
A |
T |
3: 90,419,442 (GRCm39) |
M1K |
probably null |
Het |
Slc2a5 |
G |
A |
4: 150,224,280 (GRCm39) |
|
probably null |
Het |
Slc5a5 |
T |
C |
8: 71,343,823 (GRCm39) |
T160A |
probably damaging |
Het |
Srcap |
T |
G |
7: 127,152,468 (GRCm39) |
|
probably null |
Het |
Tgm6 |
T |
A |
2: 129,983,828 (GRCm39) |
M329K |
possibly damaging |
Het |
Tom1l1 |
G |
A |
11: 90,552,600 (GRCm39) |
A201V |
probably benign |
Het |
Trgv5 |
A |
C |
13: 19,376,728 (GRCm39) |
E42D |
possibly damaging |
Het |
Ttc13 |
T |
C |
8: 125,402,002 (GRCm39) |
T662A |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,555,599 (GRCm39) |
T30469A |
probably damaging |
Het |
Ube3a |
T |
A |
7: 58,936,660 (GRCm39) |
S645R |
probably benign |
Het |
Vgll2 |
A |
G |
10: 51,901,262 (GRCm39) |
E64G |
probably damaging |
Het |
Vmn1r25 |
A |
T |
6: 57,956,060 (GRCm39) |
C76* |
probably null |
Het |
Vmn2r101 |
A |
G |
17: 19,809,104 (GRCm39) |
N78D |
probably damaging |
Het |
Zcchc10 |
CCAGCAGCAGCAGCAGCAGCAG |
CCAGCAGCAGCAGCAGCAG |
11: 53,223,344 (GRCm39) |
|
probably benign |
Het |
Zcchc7 |
C |
A |
4: 44,926,048 (GRCm39) |
A28E |
probably damaging |
Het |
|
Other mutations in Cyp2d11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00418:Cyp2d11
|
APN |
15 |
82,276,669 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00896:Cyp2d11
|
APN |
15 |
82,275,275 (GRCm39) |
splice site |
probably benign |
|
IGL02119:Cyp2d11
|
APN |
15 |
82,274,265 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02234:Cyp2d11
|
APN |
15 |
82,274,340 (GRCm39) |
missense |
probably benign |
|
IGL02347:Cyp2d11
|
APN |
15 |
82,274,681 (GRCm39) |
missense |
probably benign |
0.22 |
IGL02352:Cyp2d11
|
APN |
15 |
82,278,121 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL02359:Cyp2d11
|
APN |
15 |
82,278,121 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL02876:Cyp2d11
|
APN |
15 |
82,273,697 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL03079:Cyp2d11
|
APN |
15 |
82,275,167 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03259:Cyp2d11
|
APN |
15 |
82,274,221 (GRCm39) |
missense |
probably damaging |
0.99 |
FR4340:Cyp2d11
|
UTSW |
15 |
82,274,223 (GRCm39) |
frame shift |
probably null |
|
R0066:Cyp2d11
|
UTSW |
15 |
82,275,958 (GRCm39) |
missense |
probably benign |
|
R0066:Cyp2d11
|
UTSW |
15 |
82,275,958 (GRCm39) |
missense |
probably benign |
|
R0101:Cyp2d11
|
UTSW |
15 |
82,274,395 (GRCm39) |
splice site |
probably benign |
|
R0125:Cyp2d11
|
UTSW |
15 |
82,273,422 (GRCm39) |
missense |
probably benign |
0.45 |
R0973:Cyp2d11
|
UTSW |
15 |
82,273,730 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1466:Cyp2d11
|
UTSW |
15 |
82,275,936 (GRCm39) |
missense |
probably benign |
0.00 |
R1466:Cyp2d11
|
UTSW |
15 |
82,275,936 (GRCm39) |
missense |
probably benign |
0.00 |
R1525:Cyp2d11
|
UTSW |
15 |
82,273,498 (GRCm39) |
missense |
probably damaging |
0.98 |
R1708:Cyp2d11
|
UTSW |
15 |
82,274,633 (GRCm39) |
missense |
probably benign |
0.01 |
R1968:Cyp2d11
|
UTSW |
15 |
82,273,749 (GRCm39) |
missense |
probably benign |
0.01 |
R2117:Cyp2d11
|
UTSW |
15 |
82,275,954 (GRCm39) |
missense |
probably damaging |
0.99 |
R2223:Cyp2d11
|
UTSW |
15 |
82,274,332 (GRCm39) |
missense |
probably benign |
0.23 |
R2405:Cyp2d11
|
UTSW |
15 |
82,273,467 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3745:Cyp2d11
|
UTSW |
15 |
82,276,056 (GRCm39) |
missense |
probably benign |
0.31 |
R4081:Cyp2d11
|
UTSW |
15 |
82,276,002 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4496:Cyp2d11
|
UTSW |
15 |
82,276,149 (GRCm39) |
splice site |
probably benign |
|
R4732:Cyp2d11
|
UTSW |
15 |
82,273,428 (GRCm39) |
missense |
probably benign |
0.03 |
R4733:Cyp2d11
|
UTSW |
15 |
82,273,428 (GRCm39) |
missense |
probably benign |
0.03 |
R4880:Cyp2d11
|
UTSW |
15 |
82,276,306 (GRCm39) |
missense |
probably benign |
0.01 |
R4898:Cyp2d11
|
UTSW |
15 |
82,275,224 (GRCm39) |
missense |
probably benign |
0.03 |
R5045:Cyp2d11
|
UTSW |
15 |
82,275,272 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5328:Cyp2d11
|
UTSW |
15 |
82,275,972 (GRCm39) |
missense |
probably benign |
0.04 |
R5356:Cyp2d11
|
UTSW |
15 |
82,274,712 (GRCm39) |
missense |
probably benign |
0.11 |
R5582:Cyp2d11
|
UTSW |
15 |
82,276,319 (GRCm39) |
splice site |
probably null |
|
R6862:Cyp2d11
|
UTSW |
15 |
82,274,339 (GRCm39) |
missense |
probably benign |
|
R7194:Cyp2d11
|
UTSW |
15 |
82,275,969 (GRCm39) |
missense |
probably benign |
|
R8097:Cyp2d11
|
UTSW |
15 |
82,274,581 (GRCm39) |
critical splice donor site |
probably null |
|
R8122:Cyp2d11
|
UTSW |
15 |
82,276,744 (GRCm39) |
missense |
probably benign |
0.27 |
R8152:Cyp2d11
|
UTSW |
15 |
82,276,688 (GRCm39) |
missense |
probably benign |
|
R8194:Cyp2d11
|
UTSW |
15 |
82,274,638 (GRCm39) |
missense |
probably damaging |
1.00 |
R8531:Cyp2d11
|
UTSW |
15 |
82,273,429 (GRCm39) |
missense |
probably benign |
|
R8894:Cyp2d11
|
UTSW |
15 |
82,274,671 (GRCm39) |
missense |
probably benign |
0.22 |
R8905:Cyp2d11
|
UTSW |
15 |
82,275,102 (GRCm39) |
missense |
probably benign |
0.00 |
R9112:Cyp2d11
|
UTSW |
15 |
82,276,203 (GRCm39) |
missense |
possibly damaging |
0.94 |
Z1088:Cyp2d11
|
UTSW |
15 |
82,274,312 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Cyp2d11
|
UTSW |
15 |
82,276,700 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Predicted Primers |
PCR Primer
(F):5'- CACAGCGTTGTTCAGCATG -3'
(R):5'- TACCCAGAAGGCATGCACTG -3'
Sequencing Primer
(F):5'- GGGATTGATGGACTGCCC -3'
(R):5'- CATGCACTGGATTGTGATAGC -3'
|
Posted On |
2016-09-06 |