Incidental Mutation 'IGL02179:Ppargc1a'
ID |
283249 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ppargc1a
|
Ensembl Gene |
ENSMUSG00000029167 |
Gene Name |
peroxisome proliferative activated receptor, gamma, coactivator 1 alpha |
Synonyms |
A830037N07Rik, Pgc-1alphaa, Pgc-1alpha, Pgco1, Pgc1, Gm11133, PPAR Gamma Coactivator-1 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.843)
|
Stock # |
IGL02179
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
51611592-51725068 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 51631053 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 525
(D525E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117040
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031059]
[ENSMUST00000132734]
[ENSMUST00000151104]
[ENSMUST00000196968]
|
AlphaFold |
O70343 |
PDB Structure |
SF-1 LBD bound by phosphatidylcholine [X-RAY DIFFRACTION]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000031059
|
SMART Domains |
Protein: ENSMUSP00000138397 Gene: ENSMUSG00000029167
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
40 |
N/A |
INTRINSIC |
low complexity region
|
141 |
147 |
N/A |
INTRINSIC |
PDB:3D24|D
|
197 |
218 |
1e-7 |
PDB |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000132734
AA Change: D525E
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000117040 Gene: ENSMUSG00000029167 AA Change: D525E
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
40 |
N/A |
INTRINSIC |
low complexity region
|
141 |
147 |
N/A |
INTRINSIC |
PDB:3D24|D
|
197 |
218 |
4e-7 |
PDB |
low complexity region
|
294 |
300 |
N/A |
INTRINSIC |
low complexity region
|
558 |
613 |
N/A |
INTRINSIC |
low complexity region
|
615 |
636 |
N/A |
INTRINSIC |
RRM
|
677 |
746 |
4.61e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151104
|
SMART Domains |
Protein: ENSMUSP00000116566 Gene: ENSMUSG00000029167
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
36 |
N/A |
INTRINSIC |
low complexity region
|
137 |
143 |
N/A |
INTRINSIC |
PDB:3D24|D
|
193 |
214 |
1e-7 |
PDB |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000196968
AA Change: D525E
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000143553 Gene: ENSMUSG00000029167 AA Change: D525E
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
40 |
N/A |
INTRINSIC |
low complexity region
|
141 |
147 |
N/A |
INTRINSIC |
PDB:3D24|D
|
197 |
218 |
4e-7 |
PDB |
low complexity region
|
294 |
300 |
N/A |
INTRINSIC |
low complexity region
|
558 |
613 |
N/A |
INTRINSIC |
low complexity region
|
615 |
636 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a transcriptional coactivator that induces and coordinates gene expression regulating mitochondrial biogenesis, respiration, hepatic gluconeogenesis, thermogenic program in brown fat and muscle fiber-type switching. Mice lacking the encoded protein exhibit reduced thermogenic capacity, hyperactivity and resistance to diet-induced obesity. Mice lacking the encoded protein specifically in the heart exhibit peripartum cardiomyopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015] PHENOTYPE: Homozygous null mice display partial postnatal lethality, abnormal glucose and insulin homeostasis, resistance to diet induced obesity, increased oxygen consumption, spongiform encephalopathy, hyperactivity, increased startle reflex, and limb grasping. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abl1 |
C |
A |
2: 31,682,261 (GRCm39) |
A385D |
probably damaging |
Het |
Ace |
A |
G |
11: 105,860,615 (GRCm39) |
D174G |
probably benign |
Het |
Aldh1l2 |
A |
G |
10: 83,358,701 (GRCm39) |
V98A |
probably benign |
Het |
AU040320 |
T |
A |
4: 126,729,405 (GRCm39) |
F522L |
probably benign |
Het |
Ccdc73 |
A |
G |
2: 104,737,913 (GRCm39) |
D3G |
probably damaging |
Het |
Cdk14 |
A |
C |
5: 5,153,845 (GRCm39) |
L199V |
probably damaging |
Het |
Cdk15 |
G |
T |
1: 59,370,100 (GRCm39) |
A381S |
possibly damaging |
Het |
Cyb5a |
A |
G |
18: 84,891,280 (GRCm39) |
I68V |
probably benign |
Het |
Dock5 |
G |
A |
14: 68,043,945 (GRCm39) |
|
probably benign |
Het |
Fbxw24 |
T |
A |
9: 109,438,973 (GRCm39) |
K201* |
probably null |
Het |
Gm5852 |
C |
T |
3: 93,635,023 (GRCm39) |
|
noncoding transcript |
Het |
Gsdma3 |
A |
G |
11: 98,526,097 (GRCm39) |
K274E |
possibly damaging |
Het |
Hoxa7 |
T |
A |
6: 52,192,854 (GRCm39) |
Q178L |
probably damaging |
Het |
Itgae |
G |
T |
11: 73,024,844 (GRCm39) |
V992L |
probably benign |
Het |
Klk1b26 |
A |
G |
7: 43,665,736 (GRCm39) |
N183D |
probably benign |
Het |
Krt39 |
A |
T |
11: 99,411,667 (GRCm39) |
S140T |
probably damaging |
Het |
Lama2 |
G |
A |
10: 26,946,360 (GRCm39) |
T1953I |
probably benign |
Het |
Mmp1a |
G |
A |
9: 7,464,273 (GRCm39) |
R26Q |
probably benign |
Het |
Myh7b |
A |
C |
2: 155,456,411 (GRCm39) |
I175L |
probably benign |
Het |
Nol11 |
A |
G |
11: 107,080,082 (GRCm39) |
M1T |
probably null |
Het |
Nrxn1 |
T |
A |
17: 90,937,511 (GRCm39) |
I641F |
probably damaging |
Het |
Or51ag1 |
A |
C |
7: 103,155,934 (GRCm39) |
L73R |
probably damaging |
Het |
Or8k3 |
A |
T |
2: 86,058,591 (GRCm39) |
C241* |
probably null |
Het |
Or9i2 |
T |
C |
19: 13,815,851 (GRCm39) |
T229A |
probably benign |
Het |
Parn |
G |
T |
16: 13,485,456 (GRCm39) |
H13Q |
probably benign |
Het |
Pcnx1 |
T |
C |
12: 81,980,493 (GRCm39) |
|
probably benign |
Het |
Pdcd10 |
T |
C |
3: 75,434,922 (GRCm39) |
D60G |
probably damaging |
Het |
Phka2 |
G |
A |
X: 159,337,376 (GRCm39) |
|
probably null |
Het |
Rad54l2 |
C |
A |
9: 106,597,589 (GRCm39) |
R139L |
probably damaging |
Het |
Rnf20 |
T |
C |
4: 49,638,712 (GRCm39) |
V178A |
probably benign |
Het |
Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
Sdccag8 |
C |
T |
1: 176,705,622 (GRCm39) |
H479Y |
probably benign |
Het |
Taf8 |
T |
C |
17: 47,813,158 (GRCm39) |
T13A |
probably benign |
Het |
Ttc8 |
T |
C |
12: 98,930,796 (GRCm39) |
L270P |
possibly damaging |
Het |
Ttn |
G |
A |
2: 76,717,712 (GRCm39) |
Q365* |
probably null |
Het |
Uchl1 |
A |
G |
5: 66,833,637 (GRCm39) |
Q2R |
probably benign |
Het |
Ufl1 |
A |
G |
4: 25,254,896 (GRCm39) |
V440A |
probably damaging |
Het |
|
Other mutations in Ppargc1a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01016:Ppargc1a
|
APN |
5 |
51,655,373 (GRCm39) |
splice site |
probably null |
|
IGL01063:Ppargc1a
|
APN |
5 |
51,631,664 (GRCm39) |
missense |
probably benign |
0.43 |
IGL01800:Ppargc1a
|
APN |
5 |
51,652,063 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02336:Ppargc1a
|
APN |
5 |
51,653,068 (GRCm39) |
nonsense |
probably null |
|
IGL02368:Ppargc1a
|
APN |
5 |
51,631,498 (GRCm39) |
missense |
probably benign |
0.05 |
BB007:Ppargc1a
|
UTSW |
5 |
51,630,264 (GRCm39) |
missense |
unknown |
|
BB017:Ppargc1a
|
UTSW |
5 |
51,630,264 (GRCm39) |
missense |
unknown |
|
R1300:Ppargc1a
|
UTSW |
5 |
51,706,014 (GRCm39) |
missense |
probably damaging |
1.00 |
R2048:Ppargc1a
|
UTSW |
5 |
51,705,858 (GRCm39) |
missense |
probably damaging |
1.00 |
R2054:Ppargc1a
|
UTSW |
5 |
51,631,130 (GRCm39) |
missense |
possibly damaging |
0.47 |
R2211:Ppargc1a
|
UTSW |
5 |
51,631,601 (GRCm39) |
missense |
possibly damaging |
0.47 |
R2848:Ppargc1a
|
UTSW |
5 |
51,631,151 (GRCm39) |
missense |
probably benign |
0.02 |
R4094:Ppargc1a
|
UTSW |
5 |
51,647,406 (GRCm39) |
missense |
possibly damaging |
0.47 |
R4419:Ppargc1a
|
UTSW |
5 |
51,652,044 (GRCm39) |
missense |
probably damaging |
1.00 |
R4552:Ppargc1a
|
UTSW |
5 |
51,620,557 (GRCm39) |
intron |
probably benign |
|
R4702:Ppargc1a
|
UTSW |
5 |
51,653,038 (GRCm39) |
missense |
possibly damaging |
0.73 |
R4855:Ppargc1a
|
UTSW |
5 |
51,631,564 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5287:Ppargc1a
|
UTSW |
5 |
51,620,167 (GRCm39) |
intron |
probably benign |
|
R5313:Ppargc1a
|
UTSW |
5 |
51,615,581 (GRCm39) |
utr 3 prime |
probably benign |
|
R5403:Ppargc1a
|
UTSW |
5 |
51,620,167 (GRCm39) |
intron |
probably benign |
|
R5711:Ppargc1a
|
UTSW |
5 |
51,631,562 (GRCm39) |
missense |
probably damaging |
1.00 |
R5918:Ppargc1a
|
UTSW |
5 |
51,620,579 (GRCm39) |
intron |
probably benign |
|
R5940:Ppargc1a
|
UTSW |
5 |
51,631,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R6170:Ppargc1a
|
UTSW |
5 |
51,631,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R6415:Ppargc1a
|
UTSW |
5 |
51,620,176 (GRCm39) |
intron |
probably benign |
|
R7718:Ppargc1a
|
UTSW |
5 |
51,655,504 (GRCm39) |
missense |
probably damaging |
1.00 |
R7755:Ppargc1a
|
UTSW |
5 |
51,630,883 (GRCm39) |
missense |
unknown |
|
R7793:Ppargc1a
|
UTSW |
5 |
51,619,851 (GRCm39) |
splice site |
probably null |
|
R7849:Ppargc1a
|
UTSW |
5 |
51,705,855 (GRCm39) |
missense |
probably benign |
0.45 |
R7930:Ppargc1a
|
UTSW |
5 |
51,630,264 (GRCm39) |
missense |
unknown |
|
R8169:Ppargc1a
|
UTSW |
5 |
51,631,026 (GRCm39) |
missense |
probably benign |
0.19 |
R8497:Ppargc1a
|
UTSW |
5 |
51,647,570 (GRCm39) |
missense |
probably damaging |
1.00 |
R8862:Ppargc1a
|
UTSW |
5 |
51,631,235 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8907:Ppargc1a
|
UTSW |
5 |
51,647,570 (GRCm39) |
missense |
probably damaging |
0.99 |
R9017:Ppargc1a
|
UTSW |
5 |
51,630,251 (GRCm39) |
missense |
unknown |
|
R9142:Ppargc1a
|
UTSW |
5 |
51,652,146 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9475:Ppargc1a
|
UTSW |
5 |
51,653,080 (GRCm39) |
missense |
probably damaging |
1.00 |
R9580:Ppargc1a
|
UTSW |
5 |
51,620,139 (GRCm39) |
missense |
unknown |
|
R9655:Ppargc1a
|
UTSW |
5 |
51,705,852 (GRCm39) |
critical splice donor site |
probably null |
|
X0019:Ppargc1a
|
UTSW |
5 |
51,706,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |