Incidental Mutation 'IGL02439:Pdk2'
| ID |
293401 |
| 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 # |
IGL02439
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
94917084-94932180 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to T
at 94930323 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113556
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001548]
[ENSMUST00000038431]
[ENSMUST00000107739]
[ENSMUST00000120375]
|
| AlphaFold |
Q9JK42 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001548
|
| SMART Domains |
Protein: ENSMUSP00000001548
Gene: ENSMUSG00000001507
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
32 |
N/A |
INTRINSIC |
|
Int_alpha
|
48 |
110 |
4.18e-7 |
SMART |
|
Int_alpha
|
246 |
300 |
5.01e0 |
SMART |
|
Int_alpha
|
304 |
361 |
3.07e-14 |
SMART |
|
Int_alpha
|
366 |
419 |
4.17e-16 |
SMART |
|
Int_alpha
|
427 |
483 |
7.57e1 |
SMART |
|
low complexity region
|
521 |
534 |
N/A |
INTRINSIC |
|
SCOP:d1m1xa3
|
758 |
984 |
7e-54 |
SMART |
|
transmembrane domain
|
994 |
1016 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038431
|
| SMART Domains |
Protein: ENSMUSP00000041447
Gene: ENSMUSG00000038967
| 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: ENSMUST00000107739
|
| SMART Domains |
Protein: ENSMUSP00000103368
Gene: ENSMUSG00000001507
| Domain | Start | End | E-Value | Type |
|---|
|
Int_alpha
|
20 |
79 |
1.05e2 |
SMART |
|
Int_alpha
|
215 |
269 |
5.01e0 |
SMART |
|
Int_alpha
|
273 |
330 |
3.07e-14 |
SMART |
|
Int_alpha
|
335 |
388 |
4.17e-16 |
SMART |
|
Int_alpha
|
396 |
452 |
7.57e1 |
SMART |
|
low complexity region
|
490 |
503 |
N/A |
INTRINSIC |
|
low complexity region
|
775 |
789 |
N/A |
INTRINSIC |
|
transmembrane domain
|
963 |
985 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120375
|
| SMART Domains |
Protein: ENSMUSP00000113556
Gene: ENSMUSG00000001507
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
32 |
N/A |
INTRINSIC |
|
Int_alpha
|
48 |
110 |
4.18e-7 |
SMART |
|
Int_alpha
|
246 |
300 |
5.01e0 |
SMART |
|
Int_alpha
|
304 |
361 |
3.07e-14 |
SMART |
|
Int_alpha
|
366 |
419 |
4.17e-16 |
SMART |
|
Int_alpha
|
427 |
483 |
7.57e1 |
SMART |
|
low complexity region
|
521 |
534 |
N/A |
INTRINSIC |
|
SCOP:d1m1xa3
|
758 |
984 |
2e-53 |
SMART |
|
transmembrane domain
|
994 |
1016 |
N/A |
INTRINSIC |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610042L04Rik |
A |
T |
14: 4,348,890 (GRCm38) |
Y17F |
probably benign |
Het |
| Ablim2 |
A |
C |
5: 36,015,206 (GRCm39) |
T507P |
possibly damaging |
Het |
| Arhgef28 |
T |
C |
13: 98,067,647 (GRCm39) |
Y1426C |
possibly damaging |
Het |
| Cftr |
T |
A |
6: 18,258,237 (GRCm39) |
Y592* |
probably null |
Het |
| Eogt |
C |
T |
6: 97,120,934 (GRCm39) |
G93D |
possibly damaging |
Het |
| Exosc9 |
A |
G |
3: 36,607,180 (GRCm39) |
|
probably benign |
Het |
| Frem1 |
T |
C |
4: 82,874,582 (GRCm39) |
I1329V |
probably benign |
Het |
| Gal3st1 |
T |
C |
11: 3,948,110 (GRCm39) |
F106L |
possibly damaging |
Het |
| Gulp1 |
A |
T |
1: 44,820,164 (GRCm39) |
I216F |
probably damaging |
Het |
| Ints13 |
A |
T |
6: 146,455,721 (GRCm39) |
|
probably benign |
Het |
| Kars1 |
G |
A |
8: 112,724,268 (GRCm39) |
T453I |
probably benign |
Het |
| Kif14 |
A |
G |
1: 136,417,999 (GRCm39) |
D844G |
probably damaging |
Het |
| Lgals3bp |
A |
T |
11: 118,289,046 (GRCm39) |
C93S |
probably damaging |
Het |
| Lst1 |
T |
C |
17: 35,405,958 (GRCm39) |
I32V |
probably benign |
Het |
| Malsu1 |
T |
A |
6: 49,052,121 (GRCm39) |
Y114N |
probably damaging |
Het |
| Ndufa5 |
A |
T |
6: 24,519,201 (GRCm39) |
V41E |
probably damaging |
Het |
| Nme6 |
C |
A |
9: 109,670,999 (GRCm39) |
P80T |
probably damaging |
Het |
| Odad2 |
T |
A |
18: 7,268,444 (GRCm39) |
R358S |
probably benign |
Het |
| Or5ac20 |
A |
G |
16: 59,104,818 (GRCm39) |
L14P |
probably damaging |
Het |
| Padi4 |
T |
C |
4: 140,473,532 (GRCm39) |
D635G |
probably damaging |
Het |
| Pcf11 |
C |
T |
7: 92,311,049 (GRCm39) |
S313N |
possibly damaging |
Het |
| Pdik1l |
T |
C |
4: 134,006,015 (GRCm39) |
H309R |
probably benign |
Het |
| Pprc1 |
A |
G |
19: 46,060,758 (GRCm39) |
S1606G |
possibly damaging |
Het |
| Ptch1 |
A |
G |
13: 63,692,910 (GRCm39) |
I230T |
probably damaging |
Het |
| Scn10a |
C |
T |
9: 119,447,914 (GRCm39) |
R1381Q |
probably benign |
Het |
| Sestd1 |
T |
C |
2: 77,027,174 (GRCm39) |
K479E |
possibly damaging |
Het |
| Sez6l2 |
C |
T |
7: 126,567,361 (GRCm39) |
S892L |
probably damaging |
Het |
| Slc39a9 |
G |
T |
12: 80,713,350 (GRCm39) |
A83S |
probably benign |
Het |
| Slc6a6 |
A |
G |
6: 91,726,808 (GRCm39) |
Y483C |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tas2r131 |
A |
G |
6: 132,934,732 (GRCm39) |
S26P |
probably damaging |
Het |
| Timd2 |
A |
G |
11: 46,569,063 (GRCm39) |
|
probably benign |
Het |
| Tmem126a |
T |
C |
7: 90,104,641 (GRCm39) |
E27G |
probably damaging |
Het |
| Tns2 |
G |
A |
15: 102,022,978 (GRCm39) |
G1256E |
probably damaging |
Het |
| Trpv6 |
T |
A |
6: 41,602,421 (GRCm39) |
I322F |
probably damaging |
Het |
| Tshr |
G |
A |
12: 91,504,321 (GRCm39) |
V420M |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,596,431 (GRCm39) |
A20161S |
probably damaging |
Het |
| Vmn2r66 |
A |
T |
7: 84,654,455 (GRCm39) |
|
probably benign |
Het |
| Zfp438 |
T |
A |
18: 5,213,216 (GRCm39) |
S581C |
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 |
|
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 |
|
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