Incidental Mutation 'R2405:Cyp2d11'
ID |
247983 |
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 |
040371-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.119)
|
Stock # |
R2405 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
82273355-82278223 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 82273467 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 468
(S468N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130338
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170255]
|
AlphaFold |
P24457 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170255
AA Change: S468N
PolyPhen 2
Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000130338 Gene: ENSMUSG00000068085 AA Change: S468N
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: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
Abl1 |
T |
C |
2: 31,690,986 (GRCm39) |
L835P |
possibly damaging |
Het |
Ascc3 |
T |
A |
10: 50,607,774 (GRCm39) |
V1426D |
probably damaging |
Het |
Ccny |
A |
G |
18: 9,353,480 (GRCm39) |
Y98H |
probably benign |
Het |
Ccser2 |
G |
A |
14: 36,660,626 (GRCm39) |
T509M |
probably damaging |
Het |
Crnkl1 |
A |
T |
2: 145,770,077 (GRCm39) |
Y255* |
probably null |
Het |
Dnah7b |
C |
A |
1: 46,402,114 (GRCm39) |
T3983N |
probably benign |
Het |
Ebf1 |
T |
A |
11: 44,882,349 (GRCm39) |
M427K |
probably damaging |
Het |
Fxr1 |
T |
A |
3: 34,116,003 (GRCm39) |
S438T |
probably damaging |
Het |
Gabrr1 |
A |
T |
4: 33,157,110 (GRCm39) |
D209V |
probably damaging |
Het |
Gbx2 |
G |
T |
1: 89,858,630 (GRCm39) |
|
probably benign |
Het |
Gng14 |
A |
G |
8: 85,794,270 (GRCm39) |
I56T |
possibly damaging |
Het |
Gulo |
A |
G |
14: 66,228,477 (GRCm39) |
|
probably null |
Het |
Hhla1 |
A |
T |
15: 65,808,160 (GRCm39) |
L295* |
probably null |
Het |
Hmcn1 |
T |
A |
1: 150,736,092 (GRCm39) |
I126L |
probably damaging |
Het |
Hpse |
A |
G |
5: 100,856,637 (GRCm39) |
S121P |
possibly damaging |
Het |
Inpp5d |
A |
G |
1: 87,627,451 (GRCm39) |
H321R |
possibly damaging |
Het |
Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
Kdm5b |
T |
A |
1: 134,536,754 (GRCm39) |
M658K |
probably damaging |
Het |
Kidins220 |
A |
T |
12: 25,061,508 (GRCm39) |
E875V |
probably damaging |
Het |
Lrrc37 |
T |
C |
11: 103,511,810 (GRCm39) |
M53V |
unknown |
Het |
Nlrp4b |
A |
G |
7: 10,448,655 (GRCm39) |
E286G |
probably benign |
Het |
Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
Pde3a |
A |
T |
6: 141,426,968 (GRCm39) |
I710F |
probably damaging |
Het |
Phb1 |
T |
C |
11: 95,566,094 (GRCm39) |
I126T |
probably benign |
Het |
Ppp4r1 |
C |
T |
17: 66,118,341 (GRCm39) |
T164I |
possibly damaging |
Het |
Psmc1 |
G |
A |
12: 100,086,362 (GRCm39) |
R333Q |
probably benign |
Het |
Pygb |
A |
G |
2: 150,662,695 (GRCm39) |
Y554C |
probably benign |
Het |
Ror2 |
G |
A |
13: 53,284,980 (GRCm39) |
P144L |
possibly damaging |
Het |
Serpina3a |
A |
T |
12: 104,087,577 (GRCm39) |
M357L |
possibly damaging |
Het |
Serpinb9e |
T |
A |
13: 33,444,063 (GRCm39) |
M361K |
probably benign |
Het |
Sgms1 |
G |
A |
19: 32,137,072 (GRCm39) |
R165* |
probably null |
Het |
Slc15a2 |
G |
A |
16: 36,572,199 (GRCm39) |
Q691* |
probably null |
Het |
Slc25a25 |
C |
T |
2: 32,307,731 (GRCm39) |
|
probably null |
Het |
Slc34a2 |
A |
G |
5: 53,215,523 (GRCm39) |
N9S |
probably benign |
Het |
Slc4a2 |
A |
G |
5: 24,640,599 (GRCm39) |
T665A |
probably damaging |
Het |
Spef2 |
C |
A |
15: 9,626,120 (GRCm39) |
E1149* |
probably null |
Het |
Tmem179 |
A |
G |
12: 112,468,347 (GRCm39) |
W45R |
probably damaging |
Het |
Tmpo |
C |
A |
10: 90,999,216 (GRCm39) |
K190N |
probably damaging |
Het |
Triml1 |
T |
C |
8: 43,583,320 (GRCm39) |
Y427C |
probably damaging |
Het |
Trpm2 |
A |
G |
10: 77,770,558 (GRCm39) |
L720P |
probably damaging |
Het |
Vmn1r60 |
A |
G |
7: 5,547,912 (GRCm39) |
Y63H |
probably benign |
Het |
Vmn2r96 |
T |
A |
17: 18,818,102 (GRCm39) |
C560S |
probably damaging |
Het |
Vps35l |
G |
C |
7: 118,391,818 (GRCm39) |
A410P |
probably damaging |
Het |
Zdhhc13 |
A |
G |
7: 48,472,478 (GRCm39) |
|
probably null |
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 |
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 |
R5397:Cyp2d11
|
UTSW |
15 |
82,276,279 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- ATTGTCTGAGGACTCACCAAG -3'
(R):5'- TGCCATTCTCAGCAGGTGAC -3'
Sequencing Primer
(F):5'- TCACCAAGAGAGGGCTGG -3'
(R):5'- AGGTGACTGCAATCTACTTTCTAC -3'
|
Posted On |
2014-11-11 |