Incidental Mutation 'R0864:Pdk2'
| ID |
82263 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdk2
|
| Ensembl Gene |
ENSMUSG00000038967 |
| Gene Name |
pyruvate dehydrogenase kinase, isoenzyme 2 |
| Synonyms |
|
| MMRRC Submission |
039038-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0864 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
94917084-94932180 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 94918759 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 339
(Y339H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041447
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038431]
[ENSMUST00000055947]
|
| AlphaFold |
Q9JK42 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038431
AA Change: Y339H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041447
Gene: ENSMUSG00000038967
AA Change: Y339H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BCDHK_Adom3
|
30 |
192 |
3.8e-52 |
PFAM |
|
HATPase_c
|
240 |
364 |
9.32e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055947
|
| SMART Domains |
Protein: ENSMUSP00000062231
Gene: ENSMUSG00000047181
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
138 |
153 |
N/A |
INTRINSIC |
|
low complexity region
|
244 |
260 |
N/A |
INTRINSIC |
|
low complexity region
|
276 |
289 |
N/A |
INTRINSIC |
|
SAM
|
323 |
389 |
7.96e-12 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126730
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129262
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138855
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141712
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155857
|
| Meta Mutation Damage Score |
0.8729 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.1%
- 10x: 97.3%
- 20x: 93.8%
|
| Validation Efficiency |
93% (39/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the pyruvate dehydrogenase kinase family. The encoded protein phosphorylates pyruvate dehydrogenase, down-regulating the activity of the mitochondrial pyruvate dehydrogenase complex. Overexpression of this gene may play a role in both cancer and diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased muscle contractile force. [provided by MGI curators]
|
| Allele List at MGI |
none
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr2a |
A |
G |
2: 48,784,798 (GRCm39) |
|
probably benign |
Het |
| Alx4 |
A |
G |
2: 93,473,200 (GRCm39) |
Y66C |
probably damaging |
Het |
| Apol7e |
T |
A |
15: 77,601,993 (GRCm39) |
V197E |
probably damaging |
Het |
| Chac1 |
C |
A |
2: 119,183,950 (GRCm39) |
A184E |
probably damaging |
Het |
| Clmn |
G |
A |
12: 104,756,274 (GRCm39) |
T192I |
possibly damaging |
Het |
| Csmd1 |
T |
A |
8: 16,240,040 (GRCm39) |
Y1124F |
probably damaging |
Het |
| Ctnnbl1 |
C |
T |
2: 157,641,337 (GRCm39) |
|
probably benign |
Het |
| D430041D05Rik |
G |
A |
2: 104,060,773 (GRCm39) |
P1374S |
possibly damaging |
Het |
| Dyrk4 |
T |
C |
6: 126,854,296 (GRCm39) |
E499G |
possibly damaging |
Het |
| Fat1 |
T |
A |
8: 45,471,074 (GRCm39) |
I1603N |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,184,811 (GRCm39) |
C1660* |
probably null |
Het |
| Gapt |
G |
C |
13: 110,490,273 (GRCm39) |
T130R |
probably damaging |
Het |
| Hpn |
T |
C |
7: 30,808,426 (GRCm39) |
I41V |
probably benign |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Map4 |
A |
G |
9: 109,808,037 (GRCm39) |
Y34C |
probably damaging |
Het |
| Mapk8 |
C |
T |
14: 33,114,949 (GRCm39) |
R189H |
probably damaging |
Het |
| Mprip |
T |
C |
11: 59,649,587 (GRCm39) |
V1097A |
probably benign |
Het |
| Msh2 |
A |
G |
17: 87,987,480 (GRCm39) |
T207A |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,570,820 (GRCm39) |
S627G |
probably benign |
Het |
| Nbeal2 |
G |
A |
9: 110,457,263 (GRCm39) |
T2266I |
probably damaging |
Het |
| Pdcd6ip |
A |
T |
9: 113,503,578 (GRCm39) |
|
probably benign |
Het |
| Piwil2 |
T |
C |
14: 70,632,823 (GRCm39) |
D583G |
probably benign |
Het |
| Plin4 |
T |
A |
17: 56,410,966 (GRCm39) |
M1022L |
probably benign |
Het |
| Pmpca |
G |
A |
2: 26,283,221 (GRCm39) |
|
probably null |
Het |
| Rbbp4 |
G |
T |
4: 129,214,344 (GRCm39) |
|
probably benign |
Het |
| Rbbp8 |
G |
A |
18: 11,865,241 (GRCm39) |
|
probably benign |
Het |
| Rbms3 |
A |
T |
9: 117,458,860 (GRCm39) |
|
probably benign |
Het |
| Snx14 |
A |
T |
9: 88,266,049 (GRCm39) |
S726T |
possibly damaging |
Het |
| Supt4a |
T |
A |
11: 87,633,913 (GRCm39) |
S88T |
probably benign |
Het |
| Tmem245 |
G |
T |
4: 56,890,837 (GRCm39) |
H321Q |
probably damaging |
Het |
| Trim43c |
A |
T |
9: 88,725,087 (GRCm39) |
H202L |
probably benign |
Het |
| Trip12 |
A |
G |
1: 84,721,730 (GRCm39) |
F1334S |
probably damaging |
Het |
| Vmn1r36 |
T |
C |
6: 66,693,840 (GRCm39) |
T12A |
probably null |
Het |
| Ywhae |
T |
G |
11: 75,650,256 (GRCm39) |
|
probably null |
Het |
| Zc3h4 |
T |
A |
7: 16,154,104 (GRCm39) |
S131T |
probably damaging |
Het |
| Zfp280b |
C |
T |
10: 75,874,139 (GRCm39) |
T6M |
probably benign |
Het |
|
| Other mutations in Pdk2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00786:Pdk2
|
APN |
11 |
94,922,761 (GRCm39) |
missense |
probably benign |
|
|
IGL01489:Pdk2
|
APN |
11 |
94,922,848 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01538:Pdk2
|
APN |
11 |
94,918,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02057:Pdk2
|
APN |
11 |
94,919,324 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02439:Pdk2
|
APN |
11 |
94,930,323 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02539:Pdk2
|
APN |
11 |
94,923,321 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02551:Pdk2
|
APN |
11 |
94,919,412 (GRCm39) |
missense |
probably benign |
0.01 |
|
B5639:Pdk2
|
UTSW |
11 |
94,923,324 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R0063:Pdk2
|
UTSW |
11 |
94,923,306 (GRCm39) |
missense |
probably benign |
|
|
R0063:Pdk2
|
UTSW |
11 |
94,923,306 (GRCm39) |
missense |
probably benign |
|
|
R1435:Pdk2
|
UTSW |
11 |
94,922,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1704:Pdk2
|
UTSW |
11 |
94,919,376 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R2114:Pdk2
|
UTSW |
11 |
94,918,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2566:Pdk2
|
UTSW |
11 |
94,918,028 (GRCm39) |
splice site |
probably null |
|
|
R3613:Pdk2
|
UTSW |
11 |
94,918,072 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4259:Pdk2
|
UTSW |
11 |
94,931,970 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5051:Pdk2
|
UTSW |
11 |
94,919,598 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5055:Pdk2
|
UTSW |
11 |
94,930,242 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5457:Pdk2
|
UTSW |
11 |
94,919,408 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5512:Pdk2
|
UTSW |
11 |
94,930,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5570:Pdk2
|
UTSW |
11 |
94,920,826 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5687:Pdk2
|
UTSW |
11 |
94,919,851 (GRCm39) |
unclassified |
probably benign |
|
|
R6328:Pdk2
|
UTSW |
11 |
94,930,228 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6675:Pdk2
|
UTSW |
11 |
94,919,568 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7658:Pdk2
|
UTSW |
11 |
94,919,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8436:Pdk2
|
UTSW |
11 |
94,930,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8809:Pdk2
|
UTSW |
11 |
94,923,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9260:Pdk2
|
UTSW |
11 |
94,930,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Pdk2
|
UTSW |
11 |
94,918,744 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTACAGTGCTTGAGGAGCCAAGG -3'
(R):5'- CGCATTGCTAATTGCTGTCGCC -3'
Sequencing Primer
(F):5'- AGCCAAGGCTCCTCTGAG -3'
(R):5'- TCCTGTGGAACAGGCAGTC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation