Incidental Mutation 'R3008:Pdp2'
| ID |
257442 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3008 (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 A
at 105320898 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 249
(I249N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092821
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059588]
|
| AlphaFold |
Q504M2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059588
AA Change: I249N
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000092821
Gene: ENSMUSG00000048371
AA Change: I249N
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm2 |
T |
C |
3: 59,652,930 (GRCm39) |
L123P |
possibly damaging |
Het |
| Acap3 |
T |
C |
4: 155,990,139 (GRCm39) |
I773T |
probably benign |
Het |
| Atm |
A |
C |
9: 53,392,050 (GRCm39) |
F1780V |
probably benign |
Het |
| Cers5 |
A |
G |
15: 99,670,598 (GRCm39) |
|
probably benign |
Het |
| Cldn19 |
T |
G |
4: 119,112,987 (GRCm39) |
L73R |
probably damaging |
Het |
| Cntnap5c |
A |
G |
17: 58,666,204 (GRCm39) |
Y1078C |
probably damaging |
Het |
| Foxo6 |
A |
T |
4: 120,125,961 (GRCm39) |
M278K |
probably benign |
Het |
| Gm10277 |
T |
A |
11: 77,676,362 (GRCm39) |
|
probably benign |
Het |
| Gm4871 |
A |
T |
5: 144,966,627 (GRCm39) |
D285E |
probably damaging |
Het |
| Gpd2 |
C |
T |
2: 57,228,987 (GRCm39) |
R264* |
probably null |
Het |
| Ighv1-85 |
A |
T |
12: 115,963,704 (GRCm39) |
Y99N |
probably damaging |
Het |
| Ighv7-1 |
A |
T |
12: 113,860,071 (GRCm39) |
L107Q |
probably damaging |
Het |
| Kif17 |
A |
G |
4: 138,005,476 (GRCm39) |
D347G |
probably damaging |
Het |
| Med22 |
T |
C |
2: 26,798,396 (GRCm39) |
|
probably benign |
Het |
| Mme |
T |
A |
3: 63,266,378 (GRCm39) |
N551K |
probably damaging |
Het |
| Mpp7 |
G |
A |
18: 7,461,678 (GRCm39) |
P65L |
possibly damaging |
Het |
| Muc2 |
A |
T |
7: 141,281,347 (GRCm39) |
H475L |
possibly damaging |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Or8s10 |
G |
A |
15: 98,335,857 (GRCm39) |
C169Y |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Slc26a9 |
G |
T |
1: 131,693,652 (GRCm39) |
G714V |
probably damaging |
Het |
| Tarbp1 |
G |
A |
8: 127,174,160 (GRCm39) |
T882I |
possibly damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Ubr5 |
A |
G |
15: 38,031,089 (GRCm39) |
S398P |
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 |
|
|
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 |
|
|
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'- CGGAAAACATGAAGCCTTTGC -3'
(R):5'- CGTTGTGGTCACAGGTAAGAGG -3'
Sequencing Primer
(F):5'- ATCCTGCGTTGGCTCAAG -3'
(R):5'- GTAAACATGACCAGGCACCGTTTTC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation