Incidental Mutation 'IGL01063:Ppargc1a'
| ID |
51017 |
| 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 # |
IGL01063
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
51611592-51725068 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 51631664 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 322
(V322L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143553
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031059]
[ENSMUST00000132734]
[ENSMUST00000151104]
[ENSMUST00000196968]
|
| AlphaFold |
O70343 |
| 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 |
probably benign
Transcript: ENSMUST00000132734
AA Change: V322L
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000117040
Gene: ENSMUSG00000029167
AA Change: V322L
| 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 |
probably benign
Transcript: ENSMUST00000196968
AA Change: V322L
PolyPhen 2
Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000143553
Gene: ENSMUSG00000029167
AA Change: V322L
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| 4930444P10Rik |
A |
T |
1: 16,148,870 (GRCm39) |
L61* |
probably null |
Het |
| Abca7 |
T |
C |
10: 79,847,131 (GRCm39) |
I1705T |
probably damaging |
Het |
| Ablim1 |
T |
A |
19: 57,049,760 (GRCm39) |
I393F |
probably damaging |
Het |
| Adamts5 |
A |
G |
16: 85,696,722 (GRCm39) |
L145P |
probably damaging |
Het |
| Ano6 |
T |
C |
15: 95,846,310 (GRCm39) |
I537T |
probably damaging |
Het |
| AU018091 |
T |
C |
7: 3,212,153 (GRCm39) |
I190V |
possibly damaging |
Het |
| Camk1 |
T |
A |
6: 113,315,333 (GRCm39) |
D155V |
probably damaging |
Het |
| Cdh6 |
A |
C |
15: 13,064,581 (GRCm39) |
I103S |
probably damaging |
Het |
| Cntnap1 |
A |
G |
11: 101,072,614 (GRCm39) |
D537G |
probably benign |
Het |
| Col6a3 |
T |
C |
1: 90,730,054 (GRCm39) |
K1144E |
probably damaging |
Het |
| Cpeb1 |
T |
A |
7: 81,021,929 (GRCm39) |
E71D |
probably benign |
Het |
| Cps1 |
T |
C |
1: 67,234,325 (GRCm39) |
L904P |
possibly damaging |
Het |
| Cyfip1 |
T |
A |
7: 55,553,958 (GRCm39) |
F700I |
probably damaging |
Het |
| Dmp1 |
G |
A |
5: 104,354,965 (GRCm39) |
M1I |
probably null |
Het |
| Efcab6 |
A |
T |
15: 83,938,713 (GRCm39) |
M1K |
probably null |
Het |
| Extl2 |
A |
T |
3: 115,821,131 (GRCm39) |
H312L |
possibly damaging |
Het |
| Fat4 |
C |
A |
3: 38,944,728 (GRCm39) |
A1207D |
possibly damaging |
Het |
| Flnb |
T |
C |
14: 7,926,518 (GRCm38) |
|
probably benign |
Het |
| Hdac10 |
G |
T |
15: 89,008,071 (GRCm39) |
A593E |
possibly damaging |
Het |
| Hdhd2 |
T |
C |
18: 77,052,969 (GRCm39) |
|
probably null |
Het |
| Kcnq2 |
A |
G |
2: 180,751,582 (GRCm39) |
|
probably benign |
Het |
| Kdm7a |
A |
G |
6: 39,142,064 (GRCm39) |
F405L |
probably damaging |
Het |
| Lypd6b |
C |
A |
2: 49,833,642 (GRCm39) |
|
probably benign |
Het |
| Mki67 |
A |
T |
7: 135,296,651 (GRCm39) |
D2794E |
possibly damaging |
Het |
| Mtmr14 |
T |
A |
6: 113,243,287 (GRCm39) |
F40I |
probably damaging |
Het |
| Or2y3 |
G |
T |
17: 38,393,544 (GRCm39) |
S108R |
possibly damaging |
Het |
| Or5p55 |
A |
T |
7: 107,566,741 (GRCm39) |
I46F |
probably damaging |
Het |
| Or6d13 |
T |
A |
6: 116,517,968 (GRCm39) |
C185S |
probably damaging |
Het |
| Or6x1 |
A |
T |
9: 40,099,052 (GRCm39) |
I214F |
probably benign |
Het |
| Ppfibp1 |
T |
A |
6: 146,931,195 (GRCm39) |
M917K |
probably benign |
Het |
| Prkg2 |
C |
T |
5: 99,117,795 (GRCm39) |
|
probably null |
Het |
| Rfx4 |
A |
G |
10: 84,704,246 (GRCm39) |
E296G |
possibly damaging |
Het |
| Rfx8 |
T |
A |
1: 39,722,110 (GRCm39) |
K292* |
probably null |
Het |
| Scamp3 |
C |
A |
3: 89,084,973 (GRCm39) |
|
probably benign |
Het |
| Scn4a |
A |
T |
11: 106,221,190 (GRCm39) |
I823N |
possibly damaging |
Het |
| Sdk2 |
A |
G |
11: 113,721,668 (GRCm39) |
V1316A |
probably damaging |
Het |
| Setd2 |
T |
C |
9: 110,402,741 (GRCm39) |
V1794A |
probably damaging |
Het |
| Stard8 |
G |
T |
X: 98,116,694 (GRCm39) |
R983L |
probably damaging |
Het |
| Tbc1d23 |
A |
T |
16: 57,013,038 (GRCm39) |
D311E |
probably benign |
Het |
| Tex21 |
T |
C |
12: 76,245,592 (GRCm39) |
H568R |
probably benign |
Het |
| Tex35 |
T |
C |
1: 156,932,667 (GRCm39) |
|
probably benign |
Het |
| Tgs1 |
T |
A |
4: 3,591,292 (GRCm39) |
F442I |
possibly damaging |
Het |
| Traf2 |
C |
A |
2: 25,414,931 (GRCm39) |
C303F |
probably benign |
Het |
| Trim56 |
A |
T |
5: 137,143,354 (GRCm39) |
V54D |
possibly damaging |
Het |
| Yars2 |
C |
T |
16: 16,124,406 (GRCm39) |
R338* |
probably null |
Het |
| Zfp668 |
A |
T |
7: 127,465,454 (GRCm39) |
C577S |
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 |
|
|
IGL01800:Ppargc1a
|
APN |
5 |
51,652,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02179:Ppargc1a
|
APN |
5 |
51,631,053 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
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 |
2013-06-21 |
Incidental Mutation