Incidental Mutation 'R1260:Pdp2'
| ID |
151575 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdp2
|
| Ensembl Gene |
ENSMUSG00000048371 |
| Gene Name |
pyruvate dehydrogenase phosphatase catalytic subunit 2 |
| Synonyms |
LOC382051, 4833426J09Rik |
| MMRRC Submission |
039327-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.116)
|
| Stock # |
R1260 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
105318104-105325658 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 105321249 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 366
(V366A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092821
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059588]
|
| AlphaFold |
Q504M2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059588
AA Change: V366A
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000092821
Gene: ENSMUSG00000048371
AA Change: V366A
| Domain | Start | End | E-Value | Type |
|---|
|
PP2Cc
|
96 |
518 |
1.1e-92 |
SMART |
|
PP2C_SIG
|
121 |
520 |
2.56e-1 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.6%
|
| 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: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Btnl9 |
T |
C |
11: 49,060,371 (GRCm39) |
E374G |
probably damaging |
Het |
| Car2 |
G |
A |
3: 14,960,640 (GRCm39) |
A133T |
probably damaging |
Het |
| Chmp7 |
C |
T |
14: 69,956,899 (GRCm39) |
M336I |
probably benign |
Het |
| Cpa6 |
T |
C |
1: 10,395,544 (GRCm39) |
|
probably null |
Het |
| Iqgap3 |
A |
G |
3: 88,021,330 (GRCm39) |
H462R |
probably benign |
Het |
| Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
| Med7 |
C |
G |
11: 46,331,460 (GRCm39) |
I18M |
probably damaging |
Het |
| Mertk |
A |
G |
2: 128,604,072 (GRCm39) |
K402R |
probably benign |
Het |
| Myh7 |
T |
A |
14: 55,225,908 (GRCm39) |
I478F |
probably benign |
Het |
| Or14j10 |
T |
A |
17: 37,934,594 (GRCm39) |
T311S |
probably benign |
Het |
| Plin4 |
A |
T |
17: 56,411,348 (GRCm39) |
C894* |
probably null |
Het |
| Plxnc1 |
A |
G |
10: 94,667,227 (GRCm39) |
V1149A |
probably damaging |
Het |
| Rassf9 |
G |
A |
10: 102,348,446 (GRCm39) |
|
probably null |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Stab1 |
T |
C |
14: 30,873,846 (GRCm39) |
D984G |
probably damaging |
Het |
| Usp45 |
T |
C |
4: 21,826,204 (GRCm39) |
S675P |
probably damaging |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACCACAACGCCTGGAATGAG -3'
(R):5'- TGGCACCAGAGGGAGACTCTTAAC -3'
Sequencing Primer
(F):5'- GAATGAGGCTGAGCTGTCC -3'
(R):5'- TTATGGCGACCCACCTTGG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation