Incidental Mutation 'R9580:Ppargc1a'
| ID |
722492 |
| Institutional Source |
Beutler Lab
|
| 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 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.843)
|
| Stock # |
R9580 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
51611592-51725068 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 51620139 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 733
(N733K)
|
| 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 |
unknown
Transcript: ENSMUST00000132734
AA Change: N733K
|
| SMART Domains |
Protein: ENSMUSP00000117040
Gene: ENSMUSG00000029167
AA Change: N733K
| 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
|
| SMART Domains |
Protein: ENSMUSP00000143553
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 |
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adora2b |
T |
C |
11: 62,156,145 (GRCm39) |
M198T |
probably damaging |
Het |
| Agbl2 |
A |
G |
2: 90,636,248 (GRCm39) |
T595A |
probably benign |
Het |
| Cep89 |
A |
T |
7: 35,102,538 (GRCm39) |
I84F |
possibly damaging |
Het |
| Eda |
G |
T |
X: 99,019,775 (GRCm39) |
R130L |
unknown |
Het |
| Erp44 |
T |
A |
4: 48,218,187 (GRCm39) |
R161* |
probably null |
Het |
| Fcsk |
A |
G |
8: 111,616,813 (GRCm39) |
W446R |
probably damaging |
Het |
| Gm12185 |
T |
G |
11: 48,799,192 (GRCm39) |
S434R |
possibly damaging |
Het |
| Hmcn2 |
G |
T |
2: 31,294,875 (GRCm39) |
A2555S |
probably benign |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Ighv1-61 |
A |
G |
12: 115,322,993 (GRCm39) |
S40P |
possibly damaging |
Het |
| Kif26b |
C |
T |
1: 178,506,643 (GRCm39) |
Q240* |
probably null |
Het |
| Mapkap1 |
C |
T |
2: 34,509,878 (GRCm39) |
T456M |
probably damaging |
Het |
| Ncapg2 |
A |
G |
12: 116,424,228 (GRCm39) |
N1137S |
probably damaging |
Het |
| Nectin4 |
C |
G |
1: 171,211,324 (GRCm39) |
R283G |
probably damaging |
Het |
| Nos2 |
A |
G |
11: 78,828,457 (GRCm39) |
I259V |
probably benign |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or4c119 |
T |
C |
2: 88,987,465 (GRCm39) |
N18S |
probably benign |
Het |
| Pgm2 |
A |
T |
5: 64,265,092 (GRCm39) |
N371I |
possibly damaging |
Het |
| Ptpn5 |
A |
G |
7: 46,732,622 (GRCm39) |
Y345H |
probably damaging |
Het |
| Ptprd |
C |
G |
4: 75,872,315 (GRCm39) |
A1134P |
possibly damaging |
Het |
| Rbm47 |
A |
C |
5: 66,183,877 (GRCm39) |
M242R |
possibly damaging |
Het |
| Slc12a5 |
T |
G |
2: 164,816,896 (GRCm39) |
F140V |
probably damaging |
Het |
| Slc22a2 |
G |
T |
17: 12,803,177 (GRCm39) |
V4L |
probably benign |
Het |
| Stk26 |
C |
T |
X: 49,930,618 (GRCm39) |
|
probably benign |
Het |
| Tas2r105 |
A |
T |
6: 131,663,699 (GRCm39) |
I243K |
probably damaging |
Het |
| Tmem126b |
G |
T |
7: 90,118,231 (GRCm39) |
Y216* |
probably null |
Het |
| Usp25 |
C |
T |
16: 76,880,682 (GRCm39) |
T681I |
probably benign |
Het |
| Vmn1r206 |
C |
T |
13: 22,804,890 (GRCm39) |
A106T |
probably damaging |
Het |
| Vmn1r39 |
A |
T |
6: 66,781,915 (GRCm39) |
N134K |
probably damaging |
Het |
| Vmn1r9 |
T |
C |
6: 57,048,812 (GRCm39) |
S296P |
probably benign |
Het |
| Zfp97 |
T |
A |
17: 17,365,243 (GRCm39) |
F247L |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACCTTGCTTCTGAAAAGGTC -3'
(R):5'- TGATAAATGGATGTGGTGCCAG -3'
Sequencing Primer
(F):5'- AGGTCTCCTTTCAGAAATTGAATTC -3'
(R):5'- ATGTGGTGCCAGAGATGC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation