Incidental Mutation 'R6675:Pdk2'
| ID |
527255 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R6675 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
94917084-94932180 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 94919568 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 273
(I273V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041447
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038431]
[ENSMUST00000055947]
|
| AlphaFold |
Q9JK42 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038431
AA Change: I273V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000041447
Gene: ENSMUSG00000038967
AA Change: I273V
| 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: ENSMUST00000055947
|
| SMART Domains |
Protein: ENSMUSP00000062231
Gene: ENSMUSG00000047181
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
138 |
153 |
N/A |
INTRINSIC |
|
low complexity region
|
244 |
260 |
N/A |
INTRINSIC |
|
low complexity region
|
276 |
289 |
N/A |
INTRINSIC |
|
SAM
|
323 |
389 |
7.96e-12 |
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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.3%
|
| 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 |
|---|
| Abca9 |
T |
C |
11: 110,006,302 (GRCm39) |
T1268A |
probably benign |
Het |
| Adamts20 |
A |
G |
15: 94,229,197 (GRCm39) |
|
probably null |
Het |
| Arhgap45 |
G |
T |
10: 79,853,938 (GRCm39) |
D151Y |
probably null |
Het |
| Arhgef40 |
C |
A |
14: 52,229,098 (GRCm39) |
L592I |
probably damaging |
Het |
| Ascc3 |
G |
T |
10: 50,626,659 (GRCm39) |
E1720* |
probably null |
Het |
| Atp2c1 |
C |
T |
9: 105,330,732 (GRCm39) |
|
probably null |
Het |
| Avpi1 |
G |
A |
19: 42,112,183 (GRCm39) |
P125L |
probably benign |
Het |
| Cers3 |
A |
T |
7: 66,435,844 (GRCm39) |
T232S |
possibly damaging |
Het |
| Cfap53 |
T |
C |
18: 74,440,447 (GRCm39) |
|
probably null |
Het |
| Col4a3 |
T |
C |
1: 82,646,646 (GRCm39) |
S386P |
unknown |
Het |
| Dhtkd1 |
A |
T |
2: 5,908,889 (GRCm39) |
M735K |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Gad2 |
T |
C |
2: 22,563,997 (GRCm39) |
V400A |
possibly damaging |
Het |
| Gm10801 |
TC |
TCGCC |
2: 98,494,151 (GRCm39) |
|
probably benign |
Het |
| Hmgxb3 |
T |
G |
18: 61,270,648 (GRCm39) |
D892A |
possibly damaging |
Het |
| Hsd3b2 |
G |
A |
3: 98,620,788 (GRCm39) |
T89I |
probably benign |
Het |
| Iars1 |
C |
A |
13: 49,873,054 (GRCm39) |
A713D |
probably damaging |
Het |
| Itih1 |
G |
A |
14: 30,651,798 (GRCm39) |
T848I |
possibly damaging |
Het |
| Kcne2 |
A |
G |
16: 92,093,512 (GRCm39) |
D13G |
probably benign |
Het |
| Klra17 |
T |
A |
6: 129,849,286 (GRCm39) |
N96I |
probably damaging |
Het |
| Lrig2 |
T |
C |
3: 104,365,251 (GRCm39) |
N634D |
probably benign |
Het |
| Mrc2 |
T |
A |
11: 105,233,906 (GRCm39) |
|
probably null |
Het |
| Mroh3 |
A |
T |
1: 136,118,550 (GRCm39) |
S558T |
possibly damaging |
Het |
| Ncapg2 |
G |
T |
12: 116,398,281 (GRCm39) |
K627N |
possibly damaging |
Het |
| Ncstn |
A |
T |
1: 171,899,095 (GRCm39) |
D345E |
probably damaging |
Het |
| Nkx1-1 |
G |
T |
5: 33,591,223 (GRCm39) |
A33E |
unknown |
Het |
| Or2n1 |
T |
A |
17: 38,486,905 (GRCm39) |
M310K |
probably benign |
Het |
| Or51f2 |
A |
G |
7: 102,526,480 (GRCm39) |
E51G |
possibly damaging |
Het |
| Osbpl9 |
G |
T |
4: 108,991,025 (GRCm39) |
|
probably null |
Het |
| P2rx6 |
T |
C |
16: 17,380,032 (GRCm39) |
V52A |
probably benign |
Het |
| Pcdhgb5 |
C |
T |
18: 37,864,255 (GRCm39) |
L17F |
probably damaging |
Het |
| Pdpr |
C |
T |
8: 111,828,532 (GRCm39) |
Q12* |
probably null |
Het |
| Plxdc2 |
A |
G |
2: 16,716,932 (GRCm39) |
T339A |
probably benign |
Het |
| Pramel27 |
G |
A |
4: 143,579,828 (GRCm39) |
C471Y |
probably damaging |
Het |
| Retsat |
T |
C |
6: 72,578,672 (GRCm39) |
V128A |
probably benign |
Het |
| Rnf17 |
A |
G |
14: 56,697,432 (GRCm39) |
E442G |
probably damaging |
Het |
| Sec31b |
T |
C |
19: 44,512,214 (GRCm39) |
N560S |
probably benign |
Het |
| Slc22a16 |
C |
T |
10: 40,449,836 (GRCm39) |
Q91* |
probably null |
Het |
| Slc24a5 |
G |
T |
2: 124,922,615 (GRCm39) |
A126S |
possibly damaging |
Het |
| Slc26a4 |
A |
T |
12: 31,590,512 (GRCm39) |
D380E |
possibly damaging |
Het |
| Stc2 |
T |
A |
11: 31,310,307 (GRCm39) |
D243V |
probably benign |
Het |
| Tshz2 |
G |
T |
2: 169,727,965 (GRCm39) |
A385S |
probably damaging |
Het |
| Vmn1r113 |
G |
A |
7: 20,521,903 (GRCm39) |
G232S |
probably benign |
Het |
| Vmn1r77 |
A |
G |
7: 11,775,382 (GRCm39) |
T53A |
probably damaging |
Het |
| Zeb2 |
A |
T |
2: 44,887,457 (GRCm39) |
Y518* |
probably null |
Het |
| Zfp760 |
T |
A |
17: 21,941,991 (GRCm39) |
S389T |
possibly 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 |
|
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 |
|
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'- CTGTGGAGTACATGTAGCTGAAG -3'
(R):5'- TAAGAGGCTACCCTTCTCGG -3'
Sequencing Primer
(F):5'- TCGATCTTCCTCAAGGGGACAC -3'
(R):5'- CCTTCTCGGGGGTGGGG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation