Incidental Mutation 'IGL00487:Pdp2'
| ID |
4977 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pdp2
|
| Ensembl Gene |
ENSMUSG00000048371 |
| Gene Name |
pyruvate dehydrogenase phosphatase catalytic subunit 2 |
| Synonyms |
LOC382051, 4833426J09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
IGL00487
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
105318104-105325658 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 105320829 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 226
(M226T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092821
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059588]
|
| AlphaFold |
Q504M2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059588
AA Change: M226T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000092821
Gene: ENSMUSG00000048371
AA Change: M226T
| Domain | Start | End | E-Value | Type |
|---|
|
PP2Cc
|
96 |
518 |
1.1e-92 |
SMART |
|
PP2C_SIG
|
121 |
520 |
2.56e-1 |
SMART |
|
| 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 is a mitochondrial protein that functions as a phosphatase and is involved in the enzymatic resetting of the pyruvate dehydrogenase complex. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Aug 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
A |
11: 110,200,276 (GRCm39) |
|
probably null |
Het |
| Cfap251 |
T |
G |
5: 123,412,240 (GRCm39) |
I84S |
probably damaging |
Het |
| Dusp23 |
T |
C |
1: 172,459,199 (GRCm39) |
|
probably benign |
Het |
| Invs |
C |
T |
4: 48,407,689 (GRCm39) |
Q555* |
probably null |
Het |
| Mak16 |
T |
C |
8: 31,656,778 (GRCm39) |
N9D |
probably benign |
Het |
| Mrps7 |
T |
C |
11: 115,495,684 (GRCm39) |
I74T |
possibly damaging |
Het |
| Nlrp4a |
T |
G |
7: 26,149,410 (GRCm39) |
V339G |
possibly damaging |
Het |
| Nucb1 |
A |
G |
7: 45,151,075 (GRCm39) |
L102P |
probably damaging |
Het |
| Pik3r2 |
T |
C |
8: 71,223,073 (GRCm39) |
D449G |
probably damaging |
Het |
| Rnf157 |
G |
A |
11: 116,253,181 (GRCm39) |
P76S |
probably benign |
Het |
| Senp6 |
C |
A |
9: 80,021,120 (GRCm39) |
Q267K |
probably damaging |
Het |
| Slc9a2 |
A |
G |
1: 40,781,818 (GRCm39) |
E349G |
probably damaging |
Het |
| Snx14 |
G |
T |
9: 88,284,243 (GRCm39) |
S475Y |
probably damaging |
Het |
| Vmn1r180 |
A |
T |
7: 23,651,948 (GRCm39) |
H37L |
probably benign |
Het |
| Xrn1 |
A |
T |
9: 95,921,002 (GRCm39) |
H1371L |
probably benign |
Het |
|
| Other mutations in Pdp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01771:Pdp2
|
APN |
8 |
105,320,754 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01946:Pdp2
|
APN |
8 |
105,320,824 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02313:Pdp2
|
APN |
8 |
105,321,531 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02588:Pdp2
|
APN |
8 |
105,321,536 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02981:Pdp2
|
APN |
8 |
105,320,267 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0456:Pdp2
|
UTSW |
8 |
105,320,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1260:Pdp2
|
UTSW |
8 |
105,321,249 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1974:Pdp2
|
UTSW |
8 |
105,320,538 (GRCm39) |
missense |
probably benign |
|
|
R3008:Pdp2
|
UTSW |
8 |
105,320,898 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4580:Pdp2
|
UTSW |
8 |
105,321,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4655:Pdp2
|
UTSW |
8 |
105,321,168 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5677:Pdp2
|
UTSW |
8 |
105,321,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6813:Pdp2
|
UTSW |
8 |
105,321,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8176:Pdp2
|
UTSW |
8 |
105,321,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8472:Pdp2
|
UTSW |
8 |
105,320,913 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation