Incidental Mutation 'R8436:Pdk2'
ID |
654011 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pdk2
|
Ensembl Gene |
ENSMUSG00000038967 |
Gene Name |
pyruvate dehydrogenase kinase, isoenzyme 2 |
Synonyms |
|
MMRRC Submission |
067777-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8436 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
94917084-94932180 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 94930259 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 59
(V59D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041447
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038431]
|
AlphaFold |
Q9JK42 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038431
AA Change: V59D
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000041447 Gene: ENSMUSG00000038967 AA Change: V59D
Domain | Start | End | E-Value | Type |
Pfam:BCDHK_Adom3
|
30 |
192 |
3.8e-52 |
PFAM |
HATPase_c
|
240 |
364 |
9.32e-14 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
A |
G |
15: 81,949,936 (GRCm39) |
I1278V |
possibly damaging |
Het |
Baz1b |
A |
G |
5: 135,266,821 (GRCm39) |
H1210R |
probably damaging |
Het |
Cdt1 |
C |
T |
8: 123,296,070 (GRCm39) |
S128L |
probably benign |
Het |
Cfap54 |
A |
T |
10: 92,800,398 (GRCm39) |
N1603K |
unknown |
Het |
Cfap99 |
A |
G |
5: 34,469,026 (GRCm39) |
N300S |
possibly damaging |
Het |
Chrdl2 |
G |
A |
7: 99,676,940 (GRCm39) |
|
probably null |
Het |
Cpb2 |
C |
A |
14: 75,510,015 (GRCm39) |
F258L |
probably damaging |
Het |
Csmd3 |
A |
T |
15: 47,868,218 (GRCm39) |
D767E |
probably damaging |
Het |
Dennd3 |
C |
T |
15: 73,434,198 (GRCm39) |
T956I |
probably damaging |
Het |
Emcn |
A |
G |
3: 137,129,228 (GRCm39) |
T245A |
possibly damaging |
Het |
Gm4353 |
A |
G |
7: 115,682,864 (GRCm39) |
V239A |
probably damaging |
Het |
Gm4884 |
G |
A |
7: 40,692,810 (GRCm39) |
A260T |
probably damaging |
Het |
Hectd4 |
A |
G |
5: 121,446,421 (GRCm39) |
D205G |
possibly damaging |
Het |
Hectd4 |
A |
G |
5: 121,481,210 (GRCm39) |
S3005G |
probably benign |
Het |
Ifngr1 |
T |
C |
10: 19,479,553 (GRCm39) |
L148P |
probably damaging |
Het |
Irf2 |
C |
T |
8: 47,271,929 (GRCm39) |
T172M |
probably damaging |
Het |
Irs1 |
T |
C |
1: 82,267,970 (GRCm39) |
H82R |
possibly damaging |
Het |
Kcnc4 |
G |
T |
3: 107,366,084 (GRCm39) |
N41K |
probably damaging |
Het |
Lig3 |
C |
T |
11: 82,682,870 (GRCm39) |
A490V |
possibly damaging |
Het |
Megf6 |
G |
A |
4: 154,349,649 (GRCm39) |
E946K |
probably damaging |
Het |
Mpi |
A |
T |
9: 57,452,200 (GRCm39) |
Y359N |
probably damaging |
Het |
Nf1 |
A |
G |
11: 79,349,709 (GRCm39) |
S1365G |
probably damaging |
Het |
P3h3 |
C |
A |
6: 124,828,041 (GRCm39) |
|
probably null |
Het |
Ppip5k2 |
T |
C |
1: 97,683,613 (GRCm39) |
K168R |
probably benign |
Het |
Prg4 |
G |
T |
1: 150,331,318 (GRCm39) |
P452T |
unknown |
Het |
Prl2b1 |
T |
C |
13: 27,567,442 (GRCm39) |
N234S |
possibly damaging |
Het |
Rnd1 |
T |
A |
15: 98,574,455 (GRCm39) |
T41S |
possibly damaging |
Het |
Sall4 |
G |
A |
2: 168,597,830 (GRCm39) |
P337S |
probably damaging |
Het |
Slc1a2 |
G |
A |
2: 102,586,298 (GRCm39) |
A301T |
possibly damaging |
Het |
Sorcs3 |
C |
T |
19: 48,194,913 (GRCm39) |
R99W |
possibly damaging |
Het |
Svep1 |
G |
A |
4: 58,044,053 (GRCm39) |
T3531I |
possibly damaging |
Het |
Sycp2 |
T |
C |
2: 178,004,761 (GRCm39) |
D894G |
probably benign |
Het |
Syne1 |
T |
C |
10: 5,178,659 (GRCm39) |
N4605S |
probably benign |
Het |
Syt4 |
A |
C |
18: 31,573,472 (GRCm39) |
C348G |
possibly damaging |
Het |
Tceanc2 |
G |
A |
4: 107,034,778 (GRCm39) |
T28M |
probably damaging |
Het |
Tmco1 |
A |
G |
1: 167,136,254 (GRCm39) |
D5G |
|
Het |
Tnfsf12 |
T |
C |
11: 69,577,713 (GRCm39) |
K235E |
probably damaging |
Het |
Trank1 |
T |
C |
9: 111,220,450 (GRCm39) |
S2396P |
possibly damaging |
Het |
Vipas39 |
T |
A |
12: 87,304,191 (GRCm39) |
D125V |
probably damaging |
Het |
Vmn1r86 |
A |
G |
7: 12,836,771 (GRCm39) |
F35S |
probably benign |
Het |
Vmn2r16 |
A |
G |
5: 109,511,649 (GRCm39) |
N619D |
probably damaging |
Het |
Vps13a |
A |
G |
19: 16,718,157 (GRCm39) |
V521A |
probably benign |
Het |
Wdr20rt |
T |
A |
12: 65,273,035 (GRCm39) |
L166Q |
probably damaging |
Het |
Zbtb11 |
T |
A |
16: 55,821,022 (GRCm39) |
C706* |
probably null |
Het |
Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
Het |
Zscan21 |
A |
T |
5: 138,116,178 (GRCm39) |
Y30F |
unknown |
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 |
|
R0864:Pdk2
|
UTSW |
11 |
94,918,759 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- TAACTCTCCAGCCTCTTGGG -3'
(R):5'- TGGGGAAAACTCAAGCATCGC -3'
Sequencing Primer
(F):5'- CTCTTGGGGCCCCTGTG -3'
(R):5'- CTCAAGCATCGCAAGGCTAGG -3'
|
Posted On |
2020-10-20 |