Incidental Mutation 'R2496:Cyp2d9'
ID |
251229 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2d9
|
Ensembl Gene |
ENSMUSG00000068086 |
Gene Name |
cytochrome P450, family 2, subfamily d, polypeptide 9 |
Synonyms |
testosterone 16alpha-hydroxylase, P450-2D, Cyp2d |
MMRRC Submission |
040410-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.139)
|
Stock # |
R2496 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
82336578-82341028 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 82336680 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 10
(W10R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155496
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089129]
[ENSMUST00000229313]
[ENSMUST00000229473]
[ENSMUST00000229793]
[ENSMUST00000230191]
[ENSMUST00000231136]
[ENSMUST00000230024]
[ENSMUST00000230000]
|
AlphaFold |
P11714 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089129
AA Change: W10R
PolyPhen 2
Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000086530 Gene: ENSMUSG00000068086 AA Change: W10R
Domain | Start | End | E-Value | Type |
Pfam:p450
|
37 |
497 |
1.7e-142 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183779
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229181
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000229313
AA Change: W10R
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229473
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229793
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000230191
AA Change: W10R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231136
AA Change: W10R
PolyPhen 2
Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230024
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231044
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230000
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
T |
C |
7: 78,761,065 (GRCm39) |
W1926R |
probably damaging |
Het |
Arhgef25 |
T |
C |
10: 127,023,063 (GRCm39) |
T106A |
probably benign |
Het |
Baz1b |
G |
A |
5: 135,239,629 (GRCm39) |
R243Q |
probably damaging |
Het |
Cdhr3 |
A |
G |
12: 33,099,068 (GRCm39) |
Y508H |
probably benign |
Het |
Dmxl1 |
A |
G |
18: 50,013,858 (GRCm39) |
T1549A |
possibly damaging |
Het |
Dnah8 |
A |
T |
17: 31,070,705 (GRCm39) |
R4464W |
probably damaging |
Het |
Dpp4 |
G |
A |
2: 62,217,477 (GRCm39) |
T40M |
possibly damaging |
Het |
Dync1h1 |
A |
G |
12: 110,607,654 (GRCm39) |
H2723R |
possibly damaging |
Het |
E2f3 |
C |
T |
13: 30,095,289 (GRCm39) |
S333N |
probably damaging |
Het |
Fam120a |
G |
T |
13: 49,121,069 (GRCm39) |
A79E |
probably damaging |
Het |
Fat3 |
A |
G |
9: 15,877,399 (GRCm39) |
S3405P |
probably benign |
Het |
Gaa |
T |
C |
11: 119,174,531 (GRCm39) |
S793P |
possibly damaging |
Het |
Galc |
A |
C |
12: 98,193,540 (GRCm39) |
F350V |
probably damaging |
Het |
Garre1 |
A |
G |
7: 33,955,916 (GRCm39) |
V391A |
possibly damaging |
Het |
Gm136 |
A |
G |
4: 34,746,541 (GRCm39) |
C157R |
probably damaging |
Het |
Gm3327 |
A |
C |
14: 44,363,720 (GRCm39) |
N108T |
unknown |
Het |
H2-M10.2 |
A |
G |
17: 36,596,771 (GRCm39) |
Y102H |
possibly damaging |
Het |
Hmcn1 |
A |
T |
1: 150,490,972 (GRCm39) |
D4192E |
probably benign |
Het |
Hpse2 |
A |
C |
19: 43,001,482 (GRCm39) |
|
probably null |
Het |
Idh3a |
T |
C |
9: 54,510,633 (GRCm39) |
V362A |
probably benign |
Het |
Kdm7a |
A |
T |
6: 39,147,697 (GRCm39) |
|
probably null |
Het |
Krt6b |
A |
G |
15: 101,588,216 (GRCm39) |
V148A |
probably damaging |
Het |
Lrba |
G |
A |
3: 86,439,394 (GRCm39) |
R1977H |
probably damaging |
Het |
Magi2 |
A |
T |
5: 19,883,750 (GRCm39) |
Y134F |
probably benign |
Het |
Mamdc4 |
T |
C |
2: 25,455,914 (GRCm39) |
Y801C |
probably damaging |
Het |
Maml1 |
T |
C |
11: 50,149,371 (GRCm39) |
T790A |
probably benign |
Het |
Map3k19 |
A |
G |
1: 127,750,823 (GRCm39) |
Y843H |
probably damaging |
Het |
Mdfic |
A |
T |
6: 15,741,041 (GRCm39) |
H45L |
possibly damaging |
Het |
Mlx |
C |
T |
11: 100,979,080 (GRCm39) |
T87I |
probably benign |
Het |
Mms22l |
T |
A |
4: 24,521,269 (GRCm39) |
I382K |
probably benign |
Het |
Mtf1 |
A |
G |
4: 124,732,697 (GRCm39) |
N585S |
probably benign |
Het |
Mylk2 |
C |
T |
2: 152,755,588 (GRCm39) |
P251S |
probably damaging |
Het |
Myorg |
A |
G |
4: 41,499,165 (GRCm39) |
V155A |
probably benign |
Het |
Nox4 |
A |
T |
7: 86,955,958 (GRCm39) |
T157S |
probably benign |
Het |
Oas2 |
A |
T |
5: 120,886,682 (GRCm39) |
H161Q |
probably benign |
Het |
Obscn |
A |
T |
11: 58,994,268 (GRCm39) |
V1563E |
probably damaging |
Het |
Or2n1b |
T |
C |
17: 38,460,322 (GRCm39) |
V281A |
possibly damaging |
Het |
Or55b3 |
T |
C |
7: 102,126,354 (GRCm39) |
K241R |
probably damaging |
Het |
Or6c203 |
A |
C |
10: 129,009,966 (GRCm39) |
F308C |
probably benign |
Het |
Pcdhb11 |
T |
A |
18: 37,555,375 (GRCm39) |
I235N |
probably benign |
Het |
Pcsk5 |
A |
T |
19: 17,443,522 (GRCm39) |
C1212* |
probably null |
Het |
Ptges |
C |
T |
2: 30,782,722 (GRCm39) |
G110D |
possibly damaging |
Het |
Rsph4a |
A |
T |
10: 33,784,094 (GRCm39) |
I239L |
possibly damaging |
Het |
Setx |
A |
G |
2: 29,034,813 (GRCm39) |
I433V |
probably benign |
Het |
Smyd4 |
T |
C |
11: 75,281,927 (GRCm39) |
S467P |
probably benign |
Het |
Snai2 |
A |
T |
16: 14,523,866 (GRCm39) |
H10L |
possibly damaging |
Het |
Snw1 |
T |
C |
12: 87,497,589 (GRCm39) |
I467V |
probably benign |
Het |
Stab1 |
A |
T |
14: 30,883,420 (GRCm39) |
C301S |
probably damaging |
Het |
Tax1bp1 |
T |
A |
6: 52,735,342 (GRCm39) |
|
probably null |
Het |
Tmem70 |
C |
A |
1: 16,735,575 (GRCm39) |
P15Q |
probably benign |
Het |
Tmem87a |
T |
C |
2: 120,224,859 (GRCm39) |
E134G |
probably damaging |
Het |
Ubr4 |
C |
T |
4: 139,200,516 (GRCm39) |
|
probably benign |
Het |
Ugt2b37 |
C |
T |
5: 87,402,569 (GRCm39) |
V21M |
probably damaging |
Het |
Ugt2b38 |
T |
A |
5: 87,569,551 (GRCm39) |
I259F |
probably damaging |
Het |
Zfp804a |
T |
A |
2: 82,066,188 (GRCm39) |
L53Q |
probably damaging |
Het |
|
Other mutations in Cyp2d9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00516:Cyp2d9
|
APN |
15 |
82,339,295 (GRCm39) |
missense |
probably benign |
0.05 |
IGL00587:Cyp2d9
|
APN |
15 |
82,339,344 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL00815:Cyp2d9
|
APN |
15 |
82,340,576 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL03023:Cyp2d9
|
APN |
15 |
82,339,719 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03410:Cyp2d9
|
APN |
15 |
82,340,900 (GRCm39) |
missense |
probably benign |
0.00 |
R0417:Cyp2d9
|
UTSW |
15 |
82,340,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R0627:Cyp2d9
|
UTSW |
15 |
82,339,991 (GRCm39) |
missense |
probably damaging |
1.00 |
R1326:Cyp2d9
|
UTSW |
15 |
82,339,357 (GRCm39) |
missense |
possibly damaging |
0.50 |
R1501:Cyp2d9
|
UTSW |
15 |
82,338,525 (GRCm39) |
nonsense |
probably null |
|
R1893:Cyp2d9
|
UTSW |
15 |
82,336,807 (GRCm39) |
missense |
probably damaging |
0.97 |
R2519:Cyp2d9
|
UTSW |
15 |
82,338,719 (GRCm39) |
splice site |
probably null |
|
R3155:Cyp2d9
|
UTSW |
15 |
82,336,843 (GRCm39) |
critical splice donor site |
probably null |
|
R4691:Cyp2d9
|
UTSW |
15 |
82,340,033 (GRCm39) |
missense |
probably damaging |
1.00 |
R4727:Cyp2d9
|
UTSW |
15 |
82,338,602 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
R4770:Cyp2d9
|
UTSW |
15 |
82,336,774 (GRCm39) |
missense |
probably damaging |
0.98 |
R5319:Cyp2d9
|
UTSW |
15 |
82,338,256 (GRCm39) |
missense |
probably damaging |
1.00 |
R5486:Cyp2d9
|
UTSW |
15 |
82,336,779 (GRCm39) |
missense |
probably damaging |
0.96 |
R5516:Cyp2d9
|
UTSW |
15 |
82,338,528 (GRCm39) |
missense |
probably null |
1.00 |
R5646:Cyp2d9
|
UTSW |
15 |
82,336,665 (GRCm39) |
missense |
probably benign |
0.01 |
R5898:Cyp2d9
|
UTSW |
15 |
82,339,725 (GRCm39) |
missense |
probably benign |
0.02 |
R6193:Cyp2d9
|
UTSW |
15 |
82,336,728 (GRCm39) |
missense |
probably benign |
0.01 |
R6288:Cyp2d9
|
UTSW |
15 |
82,340,616 (GRCm39) |
missense |
probably damaging |
1.00 |
R6924:Cyp2d9
|
UTSW |
15 |
82,339,413 (GRCm39) |
missense |
probably damaging |
1.00 |
R7524:Cyp2d9
|
UTSW |
15 |
82,340,146 (GRCm39) |
missense |
probably damaging |
1.00 |
R7525:Cyp2d9
|
UTSW |
15 |
82,338,293 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7731:Cyp2d9
|
UTSW |
15 |
82,339,633 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7889:Cyp2d9
|
UTSW |
15 |
82,340,027 (GRCm39) |
missense |
probably damaging |
0.97 |
R8353:Cyp2d9
|
UTSW |
15 |
82,336,720 (GRCm39) |
missense |
probably damaging |
0.99 |
R8682:Cyp2d9
|
UTSW |
15 |
82,337,917 (GRCm39) |
missense |
probably damaging |
1.00 |
R8709:Cyp2d9
|
UTSW |
15 |
82,339,276 (GRCm39) |
missense |
probably benign |
0.19 |
R9159:Cyp2d9
|
UTSW |
15 |
82,338,572 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
Predicted Primers |
PCR Primer
(F):5'- AACACATATTTGGGGCAGGAC -3'
(R):5'- AGTATGTGCCGCTGTAGATAC -3'
Sequencing Primer
(F):5'- CATATTTGGGGCAGGACACAGAG -3'
(R):5'- GTATGTGCCGCTGTAGATACCATTAC -3'
|
Posted On |
2014-12-04 |