Incidental Mutation 'IGL02539:Pdk2'
| ID |
297648 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pdk2
|
| Ensembl Gene |
ENSMUSG00000038967 |
| Gene Name |
pyruvate dehydrogenase kinase, isoenzyme 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02539
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
94917084-94932180 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 94923321 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 101
(K101R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041447
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038431]
|
| AlphaFold |
Q9JK42 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038431
AA Change: K101R
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000041447
Gene: ENSMUSG00000038967
AA Change: K101R
| 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
|
| Coding Region Coverage |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
A |
T |
8: 25,276,229 (GRCm39) |
Y479* |
probably null |
Het |
| Btnl6 |
T |
C |
17: 34,727,288 (GRCm39) |
N414S |
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,921,005 (GRCm39) |
N984D |
probably damaging |
Het |
| Cfc1 |
A |
T |
1: 34,576,203 (GRCm39) |
|
probably benign |
Het |
| Chrm1 |
G |
A |
19: 8,655,675 (GRCm39) |
V127M |
probably damaging |
Het |
| Dicer1 |
A |
G |
12: 104,663,294 (GRCm39) |
L1429P |
probably damaging |
Het |
| Erbb3 |
A |
G |
10: 128,420,174 (GRCm39) |
|
probably null |
Het |
| Evi5 |
T |
C |
5: 107,963,531 (GRCm39) |
E348G |
probably benign |
Het |
| Fat2 |
G |
A |
11: 55,172,619 (GRCm39) |
T2698I |
probably damaging |
Het |
| Gas2 |
A |
G |
7: 51,547,038 (GRCm39) |
D63G |
possibly damaging |
Het |
| Gm28042 |
A |
G |
2: 119,865,702 (GRCm39) |
D313G |
probably damaging |
Het |
| Hivep2 |
T |
A |
10: 14,007,622 (GRCm39) |
S1407T |
probably damaging |
Het |
| Ibsp |
T |
A |
5: 104,450,149 (GRCm39) |
M19K |
probably damaging |
Het |
| Itih3 |
C |
T |
14: 30,634,621 (GRCm39) |
D129N |
probably benign |
Het |
| Krtap4-8 |
A |
T |
11: 99,671,196 (GRCm39) |
|
probably benign |
Het |
| Mertk |
A |
G |
2: 128,643,210 (GRCm39) |
T870A |
probably damaging |
Het |
| Mtmr11 |
C |
A |
3: 96,072,308 (GRCm39) |
|
probably benign |
Het |
| Nbas |
C |
A |
12: 13,322,704 (GRCm39) |
|
probably benign |
Het |
| Nlrp4b |
A |
G |
7: 10,448,355 (GRCm39) |
D186G |
probably damaging |
Het |
| Olfm3 |
A |
G |
3: 114,895,579 (GRCm39) |
I154V |
possibly damaging |
Het |
| Or10a5 |
T |
A |
7: 106,635,641 (GRCm39) |
I93N |
probably damaging |
Het |
| Pds5a |
C |
T |
5: 65,823,462 (GRCm39) |
D110N |
probably damaging |
Het |
| Pex5 |
A |
T |
6: 124,380,183 (GRCm39) |
D288E |
probably benign |
Het |
| Pitrm1 |
A |
G |
13: 6,618,792 (GRCm39) |
D655G |
probably benign |
Het |
| Plcz1 |
T |
C |
6: 139,938,690 (GRCm39) |
N554S |
probably benign |
Het |
| Plin4 |
T |
C |
17: 56,413,680 (GRCm39) |
Q315R |
probably damaging |
Het |
| Plpp5 |
A |
G |
8: 26,214,215 (GRCm39) |
H244R |
probably benign |
Het |
| Ppp1r3a |
C |
T |
6: 14,718,458 (GRCm39) |
V819I |
probably benign |
Het |
| Rap1b |
T |
A |
10: 117,658,709 (GRCm39) |
R41S |
possibly damaging |
Het |
| Rc3h2 |
T |
A |
2: 37,279,727 (GRCm39) |
S501C |
probably benign |
Het |
| Sel1l2 |
G |
T |
2: 140,072,778 (GRCm39) |
A619D |
probably damaging |
Het |
| Ska3 |
T |
C |
14: 58,057,968 (GRCm39) |
D128G |
possibly damaging |
Het |
| Specc1l |
A |
T |
10: 75,103,342 (GRCm39) |
I889L |
probably benign |
Het |
| Ssxb5 |
T |
A |
X: 8,675,087 (GRCm39) |
N130K |
probably damaging |
Het |
| Tanc1 |
G |
T |
2: 59,663,602 (GRCm39) |
G1120C |
probably damaging |
Het |
| Tet1 |
T |
C |
10: 62,648,798 (GRCm39) |
Q267R |
possibly damaging |
Het |
| Tlr8 |
T |
A |
X: 166,027,152 (GRCm39) |
H566L |
possibly damaging |
Het |
| Tmem132d |
T |
A |
5: 127,861,043 (GRCm39) |
Q1026L |
probably benign |
Het |
| Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
| Trp53bp2 |
C |
A |
1: 182,276,256 (GRCm39) |
P746T |
probably damaging |
Het |
| Uso1 |
A |
T |
5: 92,335,632 (GRCm39) |
I547F |
probably damaging |
Het |
| Zfp687 |
A |
C |
3: 94,918,373 (GRCm39) |
N466K |
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 |
|
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation