Incidental Mutation 'IGL01771:Pdp2'
| ID |
153843 |
| 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: 0.116)
|
| Stock # |
IGL01771
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
105318104-105325658 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 105320754 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 201
(Y201F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092821
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059588]
|
| AlphaFold |
Q504M2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059588
AA Change: Y201F
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000092821
Gene: ENSMUSG00000048371
AA Change: Y201F
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Capn10 |
T |
A |
1: 92,868,087 (GRCm39) |
W185R |
probably damaging |
Het |
| Frmd8 |
A |
G |
19: 5,919,603 (GRCm39) |
L148P |
probably damaging |
Het |
| Gk5 |
T |
C |
9: 96,059,488 (GRCm39) |
C447R |
probably damaging |
Het |
| Hip1r |
T |
A |
5: 124,137,606 (GRCm39) |
V704D |
possibly damaging |
Het |
| Kcnj10 |
C |
A |
1: 172,197,150 (GRCm39) |
H221Q |
probably benign |
Het |
| Klk1b8 |
A |
T |
7: 43,604,290 (GRCm39) |
I253L |
probably damaging |
Het |
| Or10aa4-ps1 |
T |
C |
1: 173,878,887 (GRCm39) |
|
probably benign |
Het |
| Or1ad8 |
A |
G |
11: 50,898,593 (GRCm39) |
T265A |
probably benign |
Het |
| Or1e29 |
A |
T |
11: 73,667,490 (GRCm39) |
I221N |
probably damaging |
Het |
| Or5ac22 |
T |
C |
16: 59,134,891 (GRCm39) |
N293S |
probably damaging |
Het |
| Or8k40 |
C |
T |
2: 86,584,626 (GRCm39) |
C152Y |
probably benign |
Het |
| Ppfia1 |
A |
T |
7: 144,036,094 (GRCm39) |
I1112K |
probably benign |
Het |
| Ppwd1 |
A |
G |
13: 104,353,624 (GRCm39) |
I378T |
probably damaging |
Het |
| Rhbdd1 |
T |
A |
1: 82,355,313 (GRCm39) |
D248E |
probably benign |
Het |
| Sec14l5 |
T |
C |
16: 4,996,494 (GRCm39) |
|
probably null |
Het |
| Sel1l3 |
T |
G |
5: 53,279,183 (GRCm39) |
D960A |
probably damaging |
Het |
| Slc35f3 |
T |
C |
8: 127,115,951 (GRCm39) |
Y293H |
probably benign |
Het |
| Wwc1 |
A |
G |
11: 35,744,185 (GRCm39) |
|
probably null |
Het |
| Zan |
T |
C |
5: 137,391,330 (GRCm39) |
N4718S |
unknown |
Het |
| Zfyve16 |
T |
C |
13: 92,658,680 (GRCm39) |
I410M |
probably benign |
Het |
|
| Other mutations in Pdp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00487:Pdp2
|
APN |
8 |
105,320,829 (GRCm39) |
missense |
probably benign |
|
|
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 |
2014-02-04 |
Incidental Mutation