Incidental Mutation 'R4259:Pdk2'
| ID |
322573 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdk2
|
| Ensembl Gene |
ENSMUSG00000038967 |
| Gene Name |
pyruvate dehydrogenase kinase, isoenzyme 2 |
| Synonyms |
|
| MMRRC Submission |
041072-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4259 (G1)
|
| Quality Score |
205 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
94917084-94932180 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 94931970 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 38
(D38G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041447
(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
AA Change: D38G
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000041447
Gene: ENSMUSG00000038967
AA Change: D38G
| 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
|
| Meta Mutation Damage Score |
0.3517 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
98% (40/41) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
C |
17: 9,214,066 (GRCm39) |
S298P |
probably damaging |
Het |
| 4930407I10Rik |
A |
G |
15: 81,947,927 (GRCm39) |
D608G |
possibly damaging |
Het |
| Actr10 |
T |
C |
12: 70,999,759 (GRCm39) |
V185A |
probably benign |
Het |
| Cd248 |
A |
G |
19: 5,118,866 (GRCm39) |
D238G |
probably damaging |
Het |
| Cep290 |
A |
C |
10: 100,350,354 (GRCm39) |
E649D |
probably damaging |
Het |
| Cyp2b19 |
G |
A |
7: 26,462,807 (GRCm39) |
G230S |
probably damaging |
Het |
| Dnah12 |
A |
G |
14: 26,520,883 (GRCm39) |
I1901V |
probably benign |
Het |
| Garin1b |
C |
G |
6: 29,320,800 (GRCm39) |
I141M |
probably damaging |
Het |
| Gpr171 |
A |
G |
3: 59,004,948 (GRCm39) |
S276P |
probably damaging |
Het |
| Hap1 |
C |
A |
11: 100,242,668 (GRCm39) |
|
probably null |
Het |
| Hcn1 |
A |
T |
13: 118,111,884 (GRCm39) |
K616M |
unknown |
Het |
| Igkv4-90 |
T |
C |
6: 68,784,461 (GRCm39) |
I18M |
possibly damaging |
Het |
| Itpr3 |
T |
A |
17: 27,325,298 (GRCm39) |
V1297E |
probably damaging |
Het |
| Kmt2b |
T |
C |
7: 30,280,506 (GRCm39) |
N1319D |
probably damaging |
Het |
| Krt72 |
T |
C |
15: 101,686,692 (GRCm39) |
E418G |
probably damaging |
Het |
| Lama1 |
T |
C |
17: 68,059,413 (GRCm39) |
S599P |
possibly damaging |
Het |
| Llgl1 |
C |
T |
11: 60,600,394 (GRCm39) |
P581L |
probably benign |
Het |
| Lrrk1 |
A |
T |
7: 65,980,512 (GRCm39) |
Y223N |
probably damaging |
Het |
| Or5p57 |
T |
A |
7: 107,665,100 (GRCm39) |
K272* |
probably null |
Het |
| Or8g50 |
A |
T |
9: 39,648,999 (GRCm39) |
D296V |
probably damaging |
Het |
| Or8k30 |
A |
G |
2: 86,339,343 (GRCm39) |
D180G |
probably damaging |
Het |
| Pde6c |
G |
A |
19: 38,151,293 (GRCm39) |
G608S |
probably damaging |
Het |
| Pdgfrb |
A |
C |
18: 61,210,703 (GRCm39) |
T737P |
probably benign |
Het |
| Pgk2 |
T |
G |
17: 40,518,274 (GRCm39) |
T385P |
probably benign |
Het |
| Prl3b1 |
T |
C |
13: 27,427,889 (GRCm39) |
|
probably null |
Het |
| Sat1 |
T |
C |
X: 153,998,182 (GRCm39) |
|
probably benign |
Het |
| Sgo2b |
A |
T |
8: 64,381,330 (GRCm39) |
F501I |
probably benign |
Het |
| Sgsm2 |
T |
A |
11: 74,782,854 (GRCm39) |
H34L |
probably damaging |
Het |
| Slc26a1 |
T |
A |
5: 108,820,496 (GRCm39) |
K250N |
probably damaging |
Het |
| Slc38a4 |
A |
G |
15: 96,896,374 (GRCm39) |
Y498H |
probably damaging |
Het |
| Slc5a4b |
A |
G |
10: 75,939,686 (GRCm39) |
L150P |
probably damaging |
Het |
| Tbc1d32 |
A |
G |
10: 55,925,867 (GRCm39) |
S1093P |
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 |
|
|
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 |
|
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'- TTAACTCTTTGTGGGCAGCC -3'
(R):5'- TCCCAGAGTTGTTTGTGCGC -3'
Sequencing Primer
(F):5'- CTTTGTGGGCAGCCAGGTTG -3'
(R):5'- CTAGGCGTTGGAGGCATC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation