Incidental Mutation 'IGL03296:Pdpr'
| ID |
416078 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pdpr
|
| Ensembl Gene |
ENSMUSG00000033624 |
| Gene Name |
pyruvate dehydrogenase phosphatase regulatory subunit |
| Synonyms |
4930402E16Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.304)
|
| Stock # |
IGL03296
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
111821262-111863706 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 111841430 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 221
(V221F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121325
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039333]
[ENSMUST00000135302]
[ENSMUST00000144377]
|
| AlphaFold |
Q7TSQ8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039333
AA Change: V221F
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000046639
Gene: ENSMUSG00000033624
AA Change: V221F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
35 |
N/A |
INTRINSIC |
|
Pfam:FAD_binding_2
|
43 |
235 |
8.3e-8 |
PFAM |
|
Pfam:DAO
|
43 |
401 |
1.5e-58 |
PFAM |
|
Pfam:FAO_M
|
404 |
459 |
1.2e-19 |
PFAM |
|
Pfam:GCV_T
|
461 |
738 |
4.7e-71 |
PFAM |
|
Pfam:GCV_T_C
|
746 |
854 |
1.4e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135302
|
| SMART Domains |
Protein: ENSMUSP00000117570
Gene: ENSMUSG00000033624
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
35 |
N/A |
INTRINSIC |
|
Pfam:DAO
|
43 |
145 |
4.6e-25 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000144377
AA Change: V221F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000121325
Gene: ENSMUSG00000033624
AA Change: V221F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
35 |
N/A |
INTRINSIC |
|
Pfam:FAD_binding_2
|
43 |
236 |
2.4e-8 |
PFAM |
|
Pfam:DAO
|
43 |
401 |
3.3e-72 |
PFAM |
|
Pfam:GCV_T
|
522 |
667 |
1.4e-29 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Pyruvate dehydrogenase complex (PDC) catalyzes the oxidative decarboxylation of pyruvate and links glycolysis to the tricarboxylic acid cycle and fatty acid synthesis. The dephosphorylation and reactivation of PDC is catalyzed by pyruvate dehydrogenase phosphatase (PDP). The dimeric PDP has a catalytic subunit and a regulatory subunit. This gene encodes the FAD-containing regulatory subunit of PDP. The encoded protein acts to decrease the sensitivity of the PDP catalytic subunit to magnesium ions. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2017]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf1 |
T |
C |
17: 43,632,044 (GRCm39) |
|
probably benign |
Het |
| Arhgef26 |
A |
G |
3: 62,330,926 (GRCm39) |
T547A |
probably damaging |
Het |
| Cdc14a |
T |
A |
3: 116,090,807 (GRCm39) |
H375L |
probably benign |
Het |
| Ddx43 |
T |
C |
9: 78,306,380 (GRCm39) |
|
probably null |
Het |
| Dennd6a |
T |
C |
14: 26,338,115 (GRCm39) |
|
probably null |
Het |
| Dock4 |
A |
T |
12: 40,783,256 (GRCm39) |
E730V |
possibly damaging |
Het |
| Gpr55 |
A |
G |
1: 85,868,753 (GRCm39) |
L276S |
probably damaging |
Het |
| Grid1 |
T |
C |
14: 35,302,524 (GRCm39) |
F930L |
possibly damaging |
Het |
| Inf2 |
C |
T |
12: 112,570,642 (GRCm39) |
Q394* |
probably null |
Het |
| Ints11 |
T |
C |
4: 155,969,780 (GRCm39) |
|
probably null |
Het |
| Kcnd2 |
T |
C |
6: 21,714,208 (GRCm39) |
V397A |
probably damaging |
Het |
| Lmntd1 |
A |
G |
6: 145,359,203 (GRCm39) |
F316L |
probably benign |
Het |
| Loxl4 |
A |
T |
19: 42,587,262 (GRCm39) |
|
probably benign |
Het |
| Lrrc37a |
C |
T |
11: 103,388,499 (GRCm39) |
E2309K |
unknown |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Mindy4 |
T |
C |
6: 55,274,738 (GRCm39) |
|
probably null |
Het |
| Mybpc2 |
A |
T |
7: 44,156,308 (GRCm39) |
I835N |
probably damaging |
Het |
| Myo5a |
T |
C |
9: 75,023,484 (GRCm39) |
I15T |
probably damaging |
Het |
| Nfkb2 |
A |
T |
19: 46,298,367 (GRCm39) |
D557V |
probably damaging |
Het |
| Or11g27 |
A |
T |
14: 50,771,402 (GRCm39) |
I178L |
possibly damaging |
Het |
| Pdk3 |
T |
C |
X: 92,875,503 (GRCm39) |
Y19C |
probably damaging |
Het |
| Rab6a |
T |
C |
7: 100,283,931 (GRCm39) |
Y128H |
probably benign |
Het |
| Rars1 |
A |
T |
11: 35,707,523 (GRCm39) |
Y429* |
probably null |
Het |
| Rsl24d1 |
T |
C |
9: 73,025,229 (GRCm39) |
|
probably null |
Het |
| Slc7a9 |
T |
C |
7: 35,151,852 (GRCm39) |
F49S |
probably damaging |
Het |
| St14 |
C |
T |
9: 31,020,008 (GRCm39) |
E34K |
probably damaging |
Het |
| Tcp10b |
A |
G |
17: 13,292,443 (GRCm39) |
T289A |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 35,942,852 (GRCm39) |
|
probably null |
Het |
| Tshz3 |
A |
T |
7: 36,470,761 (GRCm39) |
T917S |
probably damaging |
Het |
| Vrtn |
T |
A |
12: 84,695,622 (GRCm39) |
I124N |
probably damaging |
Het |
| Vwa8 |
A |
G |
14: 79,420,540 (GRCm39) |
E1747G |
probably damaging |
Het |
| Wdr33 |
A |
T |
18: 31,960,444 (GRCm39) |
Q36L |
probably benign |
Het |
| Xpo5 |
C |
T |
17: 46,532,320 (GRCm39) |
R452* |
probably null |
Het |
| Zdhhc8 |
A |
T |
16: 18,044,587 (GRCm39) |
L311Q |
possibly damaging |
Het |
|
| Other mutations in Pdpr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00155:Pdpr
|
APN |
8 |
111,828,704 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL01116:Pdpr
|
APN |
8 |
111,839,342 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL01353:Pdpr
|
APN |
8 |
111,847,910 (GRCm39) |
splice site |
probably null |
|
|
IGL01681:Pdpr
|
APN |
8 |
111,859,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01785:Pdpr
|
APN |
8 |
111,856,288 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02115:Pdpr
|
APN |
8 |
111,830,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02292:Pdpr
|
APN |
8 |
111,852,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02749:Pdpr
|
APN |
8 |
111,844,722 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0730:Pdpr
|
UTSW |
8 |
111,852,387 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1510:Pdpr
|
UTSW |
8 |
111,851,107 (GRCm39) |
splice site |
probably benign |
|
|
R1837:Pdpr
|
UTSW |
8 |
111,861,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1838:Pdpr
|
UTSW |
8 |
111,861,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2144:Pdpr
|
UTSW |
8 |
111,844,668 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4214:Pdpr
|
UTSW |
8 |
111,856,212 (GRCm39) |
intron |
probably benign |
|
|
R4812:Pdpr
|
UTSW |
8 |
111,843,349 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4863:Pdpr
|
UTSW |
8 |
111,828,583 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4998:Pdpr
|
UTSW |
8 |
111,841,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5579:Pdpr
|
UTSW |
8 |
111,850,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5665:Pdpr
|
UTSW |
8 |
111,841,443 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5739:Pdpr
|
UTSW |
8 |
111,861,252 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6675:Pdpr
|
UTSW |
8 |
111,828,532 (GRCm39) |
nonsense |
probably null |
|
|
R6785:Pdpr
|
UTSW |
8 |
111,851,243 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6889:Pdpr
|
UTSW |
8 |
111,851,245 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7397:Pdpr
|
UTSW |
8 |
111,839,385 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7543:Pdpr
|
UTSW |
8 |
111,859,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7634:Pdpr
|
UTSW |
8 |
111,852,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8683:Pdpr
|
UTSW |
8 |
111,850,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8794:Pdpr
|
UTSW |
8 |
111,852,240 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8833:Pdpr
|
UTSW |
8 |
111,852,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9283:Pdpr
|
UTSW |
8 |
111,856,268 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9487:Pdpr
|
UTSW |
8 |
111,852,925 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation