Incidental Mutation 'R5486:Cyp2d9'
| ID |
430385 |
| 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 |
043047-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.139)
|
| Stock # |
R5486 (G1)
|
| Quality Score |
204 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
82336578-82341028 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 82336779 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 43
(W43R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155611
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089129]
[ENSMUST00000229313]
[ENSMUST00000229473]
[ENSMUST00000229793]
[ENSMUST00000230000]
[ENSMUST00000230191]
[ENSMUST00000231136]
[ENSMUST00000230024]
|
| AlphaFold |
P11714 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089129
AA Change: W43R
PolyPhen 2
Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000086530
Gene: ENSMUSG00000068086
AA Change: W43R
| 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: W43R
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000229473
AA Change: W4R
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229793
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230000
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000230191
AA Change: W43R
PolyPhen 2
Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231136
AA Change: W43R
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230024
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231044
|
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.2%
- 10x: 95.1%
- 20x: 90.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930009A15Rik |
G |
T |
10: 115,415,810 (GRCm39) |
|
probably benign |
Het |
| Acad8 |
A |
T |
9: 26,910,791 (GRCm39) |
M1K |
probably null |
Het |
| Adam12 |
C |
A |
7: 133,509,401 (GRCm39) |
R786S |
possibly damaging |
Het |
| Add3 |
G |
A |
19: 53,232,818 (GRCm39) |
V604I |
probably benign |
Het |
| Alpk2 |
A |
T |
18: 65,427,425 (GRCm39) |
|
probably null |
Het |
| Ano3 |
T |
C |
2: 110,576,215 (GRCm39) |
D102G |
probably damaging |
Het |
| Bdp1 |
T |
C |
13: 100,235,018 (GRCm39) |
Y192C |
probably damaging |
Het |
| Bod1l |
A |
T |
5: 41,964,524 (GRCm39) |
D2693E |
possibly damaging |
Het |
| Ccdc7a |
T |
C |
8: 129,711,884 (GRCm39) |
N284D |
probably damaging |
Het |
| Clic6 |
A |
G |
16: 92,326,740 (GRCm39) |
|
probably null |
Het |
| Cln5 |
T |
C |
14: 103,313,630 (GRCm39) |
I294T |
probably damaging |
Het |
| Cmklr1 |
C |
G |
5: 113,752,990 (GRCm39) |
D4H |
possibly damaging |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Erlec1 |
A |
T |
11: 30,885,047 (GRCm39) |
H413Q |
probably damaging |
Het |
| Fam168a |
T |
A |
7: 100,483,376 (GRCm39) |
M203K |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,144,507 (GRCm39) |
S4122R |
probably benign |
Het |
| Fgd4 |
A |
T |
16: 16,292,901 (GRCm39) |
L272Q |
probably damaging |
Het |
| Hpcal4 |
A |
G |
4: 123,084,557 (GRCm39) |
K162R |
probably benign |
Het |
| Iars1 |
T |
A |
13: 49,863,049 (GRCm39) |
|
probably null |
Het |
| Lbr |
A |
G |
1: 181,646,403 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
T |
C |
2: 69,267,809 (GRCm39) |
I4259V |
probably benign |
Het |
| Mcm3 |
C |
T |
1: 20,885,118 (GRCm39) |
G189S |
probably damaging |
Het |
| Nr1d2 |
A |
G |
14: 18,206,860 (GRCm38) |
V137A |
possibly damaging |
Het |
| Or52d1 |
C |
A |
7: 103,755,705 (GRCm39) |
T73N |
probably damaging |
Het |
| Or52n3 |
T |
A |
7: 104,530,168 (GRCm39) |
C85S |
probably benign |
Het |
| Or7g33 |
A |
G |
9: 19,448,590 (GRCm39) |
V212A |
probably benign |
Het |
| Pim3 |
T |
C |
15: 88,747,425 (GRCm39) |
V97A |
possibly damaging |
Het |
| Piwil2 |
T |
C |
14: 70,638,880 (GRCm39) |
N479S |
probably benign |
Het |
| Pld3 |
C |
A |
7: 27,233,156 (GRCm39) |
W365L |
probably damaging |
Het |
| Plk3 |
C |
A |
4: 116,987,600 (GRCm39) |
E412* |
probably null |
Het |
| Psmd1 |
A |
G |
1: 86,064,772 (GRCm39) |
I935V |
possibly damaging |
Het |
| Sh2b2 |
A |
G |
5: 136,260,944 (GRCm39) |
S91P |
probably benign |
Het |
| Skor2 |
A |
G |
18: 76,946,395 (GRCm39) |
N39S |
unknown |
Het |
| Slc22a22 |
A |
G |
15: 57,126,847 (GRCm39) |
V55A |
probably damaging |
Het |
| Smg7 |
A |
G |
1: 152,721,927 (GRCm39) |
S595P |
probably damaging |
Het |
| Snrnp200 |
C |
T |
2: 127,074,986 (GRCm39) |
P1520S |
possibly damaging |
Het |
| Taar7a |
T |
A |
10: 23,868,356 (GRCm39) |
T342S |
probably benign |
Het |
| Tecpr2 |
A |
T |
12: 110,899,449 (GRCm39) |
I606F |
probably benign |
Het |
| Tex19.2 |
A |
T |
11: 121,008,304 (GRCm39) |
M48K |
probably benign |
Het |
| Thoc1 |
A |
G |
18: 9,992,204 (GRCm39) |
T511A |
probably benign |
Het |
| Trpc2 |
GTGTCCTA |
GTGTCCTATGTCCTA |
7: 101,744,420 (GRCm39) |
|
probably null |
Het |
| Ubr5 |
C |
A |
15: 38,008,983 (GRCm39) |
A1077S |
probably benign |
Het |
| Wdr95 |
A |
T |
5: 149,519,795 (GRCm39) |
R571* |
probably null |
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 |
|
R2496:Cyp2d9
|
UTSW |
15 |
82,336,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- TTGGGGCTTCCTGATCCTAG -3'
(R):5'- GCTGCTACCAAAACATTTCTATGC -3'
Sequencing Primer
(F):5'- GCTTCCTGATCCTAGGTGTTG -3'
(R):5'- ACCAAAACATTTCTATGCCTGTC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation