Incidental Mutation 'R0063:Pdk2'
| ID |
16499 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdk2
|
| Ensembl Gene |
ENSMUSG00000038967 |
| Gene Name |
pyruvate dehydrogenase kinase, isoenzyme 2 |
| Synonyms |
|
| MMRRC Submission |
038355-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0063 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
94917084-94932180 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 94923306 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 106
(H106R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041447
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038431]
|
| AlphaFold |
Q9JK42 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038431
AA Change: H106R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000041447
Gene: ENSMUSG00000038967
AA Change: H106R
| 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 |
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 |
0.0635 |
| Coding Region Coverage |
- 1x: 89.1%
- 3x: 86.1%
- 10x: 78.0%
- 20x: 64.7%
|
| Validation Efficiency |
99% (86/87) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
C |
T |
16: 4,678,912 (GRCm39) |
R245* |
probably null |
Het |
| 4930563I02Rik |
T |
A |
14: 60,333,477 (GRCm39) |
|
probably benign |
Het |
| Acss1 |
T |
C |
2: 150,469,212 (GRCm39) |
T435A |
probably damaging |
Het |
| Aoc2 |
T |
A |
11: 101,216,897 (GRCm39) |
S327T |
probably damaging |
Het |
| Arid5a |
T |
A |
1: 36,357,645 (GRCm39) |
Y252N |
probably damaging |
Het |
| AU040320 |
T |
C |
4: 126,733,465 (GRCm39) |
Y662H |
probably damaging |
Het |
| Bcam |
C |
T |
7: 19,500,773 (GRCm39) |
V134I |
probably benign |
Het |
| Btbd16 |
A |
T |
7: 130,424,896 (GRCm39) |
T426S |
probably benign |
Het |
| Cap2 |
T |
C |
13: 46,791,508 (GRCm39) |
|
probably benign |
Het |
| Capn8 |
T |
A |
1: 182,429,677 (GRCm39) |
D299E |
probably damaging |
Het |
| Cdipt |
G |
A |
7: 126,578,772 (GRCm39) |
V160I |
probably benign |
Het |
| Cyb5r3 |
T |
C |
15: 83,046,137 (GRCm39) |
T60A |
probably benign |
Het |
| Dazl |
T |
C |
17: 152,705,859 (NCBIm37) |
T212A |
probably damaging |
Het |
| Dgkb |
T |
G |
12: 38,654,112 (GRCm39) |
S744A |
probably benign |
Het |
| Dock2 |
T |
A |
11: 34,647,111 (GRCm39) |
|
probably null |
Het |
| Ece2 |
A |
G |
16: 20,461,067 (GRCm39) |
T442A |
probably benign |
Het |
| Elapor2 |
T |
C |
5: 9,490,709 (GRCm39) |
|
probably benign |
Het |
| Emid1 |
A |
T |
11: 5,139,704 (GRCm38) |
|
probably benign |
Het |
| Eml3 |
C |
A |
19: 8,915,842 (GRCm39) |
A644D |
probably damaging |
Het |
| Foxp1 |
A |
G |
6: 98,921,684 (GRCm39) |
|
probably benign |
Het |
| Ints8 |
T |
C |
4: 11,252,857 (GRCm39) |
N75S |
probably damaging |
Het |
| Irs1 |
T |
A |
1: 82,266,580 (GRCm39) |
E545D |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,661,762 (GRCm39) |
|
probably benign |
Het |
| Nat8f2 |
A |
T |
6: 85,844,815 (GRCm39) |
S182R |
possibly damaging |
Het |
| Nrcam |
G |
T |
12: 44,596,811 (GRCm39) |
V343F |
possibly damaging |
Het |
| Pkhd1 |
G |
A |
1: 20,282,174 (GRCm39) |
T2889I |
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,392,633 (GRCm39) |
L1656H |
probably damaging |
Het |
| Plxna2 |
A |
T |
1: 194,327,247 (GRCm39) |
T394S |
probably benign |
Het |
| Pnpla8 |
T |
A |
12: 44,329,615 (GRCm39) |
C56S |
probably damaging |
Het |
| Prdm8 |
G |
T |
5: 98,332,453 (GRCm39) |
R118L |
probably damaging |
Het |
| Prkce |
T |
C |
17: 86,789,539 (GRCm39) |
|
probably benign |
Het |
| Ptprk |
T |
A |
10: 28,139,763 (GRCm39) |
Y163N |
probably damaging |
Het |
| Rbbp8 |
T |
A |
18: 11,867,614 (GRCm39) |
|
probably benign |
Het |
| Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
| Slc2a2 |
T |
C |
3: 28,771,589 (GRCm39) |
M173T |
probably damaging |
Het |
| Slc2a8 |
T |
A |
2: 32,870,011 (GRCm39) |
|
probably null |
Het |
| Tmem131 |
C |
T |
1: 36,858,209 (GRCm39) |
V713I |
probably benign |
Het |
| Tmem89 |
A |
G |
9: 108,743,880 (GRCm39) |
N60S |
probably benign |
Het |
| Trio |
G |
T |
15: 27,881,523 (GRCm39) |
|
probably benign |
Het |
| Tulp2 |
T |
C |
7: 45,170,284 (GRCm39) |
|
probably benign |
Het |
| Uggt2 |
A |
G |
14: 119,244,542 (GRCm39) |
|
probably benign |
Het |
| Vwa8 |
A |
G |
14: 79,401,656 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,339,427 (GRCm39) |
D556G |
probably damaging |
Het |
| Xrn1 |
T |
C |
9: 95,851,588 (GRCm39) |
L202P |
probably damaging |
Het |
| Zfp354a |
A |
T |
11: 50,960,398 (GRCm39) |
H203L |
probably damaging |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2013-01-20 |
Incidental Mutation