Incidental Mutation 'R1525:Cyp2d11'
| ID |
167813 |
| 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 |
040872-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R1525 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
82273355-82278223 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 82273498 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 458
(L458I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130338
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170255]
|
| AlphaFold |
P24457 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170255
AA Change: L458I
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000130338
Gene: ENSMUSG00000068085
AA Change: L458I
| 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: 98.3%
- 10x: 96.2%
- 20x: 92.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
T |
11: 94,252,062 (GRCm39) |
H840Q |
probably benign |
Het |
| Amotl2 |
C |
T |
9: 102,605,767 (GRCm39) |
R540C |
probably damaging |
Het |
| Brpf1 |
A |
G |
6: 113,294,115 (GRCm39) |
E605G |
probably damaging |
Het |
| Cacna2d3 |
T |
C |
14: 28,694,199 (GRCm39) |
I865V |
probably benign |
Het |
| Cdh24 |
A |
T |
14: 54,876,046 (GRCm39) |
F199I |
probably damaging |
Het |
| Cdk9 |
A |
G |
2: 32,600,521 (GRCm39) |
V27A |
probably damaging |
Het |
| Cfap69 |
G |
T |
5: 5,690,230 (GRCm39) |
|
probably null |
Het |
| Dchs1 |
T |
C |
7: 105,408,138 (GRCm39) |
E1898G |
probably damaging |
Het |
| Dennd4b |
G |
T |
3: 90,178,177 (GRCm39) |
L456F |
probably damaging |
Het |
| Dgat1 |
T |
C |
15: 76,395,786 (GRCm39) |
T66A |
probably benign |
Het |
| Dock10 |
C |
A |
1: 80,583,881 (GRCm39) |
|
probably null |
Het |
| Fam110b |
A |
G |
4: 5,799,578 (GRCm39) |
D332G |
possibly damaging |
Het |
| Fem1al |
A |
C |
11: 29,773,994 (GRCm39) |
Y488D |
probably benign |
Het |
| Frmd4b |
G |
A |
6: 97,273,347 (GRCm39) |
P628S |
probably damaging |
Het |
| Ice1 |
A |
T |
13: 70,753,529 (GRCm39) |
H852Q |
probably benign |
Het |
| Il17ra |
T |
C |
6: 120,450,751 (GRCm39) |
V116A |
probably damaging |
Het |
| Ints9 |
T |
C |
14: 65,232,460 (GRCm39) |
I173T |
probably benign |
Het |
| Kctd14 |
A |
T |
7: 97,107,074 (GRCm39) |
M110L |
probably benign |
Het |
| Krt6a |
T |
G |
15: 101,602,637 (GRCm39) |
Y16S |
probably benign |
Het |
| Lamc2 |
T |
C |
1: 153,006,502 (GRCm39) |
N883S |
probably benign |
Het |
| Larp4b |
C |
T |
13: 9,195,486 (GRCm39) |
T195M |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,375,398 (GRCm39) |
L4432P |
probably damaging |
Het |
| Mei4 |
T |
C |
9: 81,772,252 (GRCm39) |
S22P |
probably damaging |
Het |
| Mep1a |
T |
C |
17: 43,802,527 (GRCm39) |
Q166R |
probably damaging |
Het |
| Mroh2b |
C |
A |
15: 4,980,612 (GRCm39) |
|
probably null |
Het |
| Myoc |
T |
G |
1: 162,476,220 (GRCm39) |
L308R |
probably damaging |
Het |
| Ndn |
C |
T |
7: 61,998,256 (GRCm39) |
P34L |
probably benign |
Het |
| Or1j21 |
A |
T |
2: 36,684,155 (GRCm39) |
R302S |
probably null |
Het |
| Or2t6 |
T |
A |
14: 14,175,725 (GRCm38) |
Y119F |
probably damaging |
Het |
| Or4c101 |
C |
G |
2: 88,389,985 (GRCm39) |
S57R |
probably damaging |
Het |
| Pdilt |
T |
A |
7: 119,087,217 (GRCm39) |
T478S |
probably damaging |
Het |
| Pias1 |
T |
C |
9: 62,827,769 (GRCm39) |
K222E |
probably damaging |
Het |
| Prss16 |
A |
C |
13: 22,193,613 (GRCm39) |
L61V |
possibly damaging |
Het |
| Pttg1ip2 |
C |
A |
5: 5,502,019 (GRCm39) |
W144C |
probably benign |
Het |
| Pvr |
G |
A |
7: 19,644,551 (GRCm39) |
Q328* |
probably null |
Het |
| Ranbp3 |
A |
G |
17: 57,017,865 (GRCm39) |
D481G |
possibly damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
G |
T |
2: 112,508,435 (GRCm39) |
D3419E |
probably damaging |
Het |
| Scn1a |
C |
T |
2: 66,149,806 (GRCm39) |
W946* |
probably null |
Het |
| Sh3pxd2a |
T |
C |
19: 47,266,864 (GRCm39) |
K242E |
probably damaging |
Het |
| Slc34a2 |
A |
G |
5: 53,226,848 (GRCm39) |
D657G |
probably benign |
Het |
| Stard9 |
T |
A |
2: 120,532,533 (GRCm39) |
I2930K |
probably benign |
Het |
| Syna |
T |
C |
5: 134,588,112 (GRCm39) |
D279G |
probably benign |
Het |
| Tfr2 |
T |
C |
5: 137,577,292 (GRCm39) |
F415L |
probably benign |
Het |
| Tmem97 |
T |
A |
11: 78,433,586 (GRCm39) |
Y103F |
probably damaging |
Het |
| Tmem97 |
A |
T |
11: 78,433,587 (GRCm39) |
Y103N |
probably damaging |
Het |
| Txndc2 |
T |
A |
17: 65,945,310 (GRCm39) |
D289V |
probably damaging |
Het |
| Zbtb1 |
T |
G |
12: 76,433,206 (GRCm39) |
D397E |
probably benign |
Het |
| Zc3h18 |
T |
C |
8: 123,140,677 (GRCm39) |
S847P |
probably benign |
Het |
| Zfp382 |
G |
A |
7: 29,833,144 (GRCm39) |
G265E |
probably damaging |
Het |
| Zfp410 |
T |
C |
12: 84,369,740 (GRCm39) |
L39S |
probably damaging |
Het |
| Zfp729a |
G |
T |
13: 67,767,440 (GRCm39) |
P930T |
probably benign |
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 |
|
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 |
|
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'- TGTCTGAGGACTCACCAAGAGAGG -3'
(R):5'- CCGTGCTGAAAGATGAGACTGTCTG -3'
Sequencing Primer
(F):5'- CACAAATCTGGTTTATTTTGCCTGG -3'
(R):5'- TGTCTGGGAAAAGCCCCTC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation