Incidental Mutation 'R9142:Ppargc1a'
| ID |
694380 |
| 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 |
068934-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.843)
|
| Stock # |
R9142 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
51611592-51725068 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 51652146 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 184
(T184I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117040
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031059]
[ENSMUST00000127135]
[ENSMUST00000132734]
[ENSMUST00000151104]
[ENSMUST00000196968]
|
| AlphaFold |
O70343 |
| PDB Structure |
SF-1 LBD bound by phosphatidylcholine [X-RAY DIFFRACTION]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031059
AA Change: T184I
PolyPhen 2
Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000138397
Gene: ENSMUSG00000029167
AA Change: T184I
| 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: ENSMUST00000127135
|
| SMART Domains |
Protein: ENSMUSP00000115586
Gene: ENSMUSG00000029167
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
27 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000132734
AA Change: T184I
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000117040
Gene: ENSMUSG00000029167
AA Change: T184I
| 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 |
possibly damaging
Transcript: ENSMUST00000151104
AA Change: T180I
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000116566
Gene: ENSMUSG00000029167
AA Change: T180I
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000143553
Gene: ENSMUSG00000029167
AA Change: T184I
| 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: 99.1%
|
| Validation Efficiency |
100% (64/64) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprs |
C |
A |
4: 126,215,360 (GRCm39) |
G35V |
probably damaging |
Het |
| Apob |
A |
C |
12: 8,062,705 (GRCm39) |
D3729A |
possibly damaging |
Het |
| App |
G |
A |
16: 84,900,127 (GRCm39) |
H108Y |
probably damaging |
Het |
| Arap3 |
G |
A |
18: 38,112,934 (GRCm39) |
A1092V |
possibly damaging |
Het |
| Arid3a |
T |
C |
10: 79,787,612 (GRCm39) |
S550P |
unknown |
Het |
| Armc2 |
T |
G |
10: 41,851,404 (GRCm39) |
E259D |
probably benign |
Het |
| Atp13a2 |
A |
G |
4: 140,729,364 (GRCm39) |
D566G |
probably damaging |
Het |
| Bnc2 |
A |
G |
4: 84,474,111 (GRCm39) |
C12R |
probably benign |
Het |
| Btbd16 |
C |
T |
7: 130,417,516 (GRCm39) |
R344C |
probably damaging |
Het |
| Cc2d2b |
C |
T |
19: 40,753,845 (GRCm39) |
R123* |
probably null |
Het |
| Cdc37l1 |
T |
A |
19: 28,989,402 (GRCm39) |
H286Q |
possibly damaging |
Het |
| Cfap54 |
A |
T |
10: 92,820,097 (GRCm39) |
L1239Q |
possibly damaging |
Het |
| Cfap58 |
T |
C |
19: 47,974,993 (GRCm39) |
|
probably null |
Het |
| Col6a3 |
A |
T |
1: 90,706,566 (GRCm39) |
D2789E |
unknown |
Het |
| Ctnna2 |
G |
T |
6: 76,879,423 (GRCm39) |
|
probably benign |
Het |
| Dazl |
A |
G |
17: 50,590,178 (GRCm39) |
V271A |
probably benign |
Het |
| Dennd4c |
A |
T |
4: 86,755,637 (GRCm39) |
N1610Y |
probably benign |
Het |
| Dusp13b |
T |
A |
14: 21,792,756 (GRCm39) |
K56N |
probably benign |
Het |
| Erbb2 |
T |
A |
11: 98,312,884 (GRCm39) |
I149N |
probably damaging |
Het |
| Erbb4 |
A |
T |
1: 68,388,552 (GRCm39) |
C217S |
probably damaging |
Het |
| Fbxw21 |
A |
G |
9: 108,985,413 (GRCm39) |
C122R |
probably damaging |
Het |
| Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
| Foxm1 |
T |
A |
6: 128,344,298 (GRCm39) |
I182N |
probably damaging |
Het |
| Ggnbp2 |
T |
C |
11: 84,730,886 (GRCm39) |
N381S |
possibly damaging |
Het |
| Gja3 |
T |
C |
14: 57,274,048 (GRCm39) |
E108G |
probably benign |
Het |
| Gm40460 |
C |
A |
7: 141,794,499 (GRCm39) |
G106V |
unknown |
Het |
| Gm9736 |
A |
G |
10: 77,586,849 (GRCm39) |
C114R |
unknown |
Het |
| Gpbp1 |
A |
T |
13: 111,563,033 (GRCm39) |
D492E |
unknown |
Het |
| Gper1 |
T |
C |
5: 139,412,312 (GRCm39) |
V219A |
possibly damaging |
Het |
| Gtf2e1 |
C |
T |
16: 37,356,364 (GRCm39) |
R56Q |
probably benign |
Het |
| H2ac10 |
T |
C |
13: 23,718,151 (GRCm39) |
L24P |
probably damaging |
Het |
| Ide |
T |
C |
19: 37,307,898 (GRCm39) |
N38S |
|
Het |
| Kat6a |
T |
A |
8: 23,430,072 (GRCm39) |
M1809K |
unknown |
Het |
| Kdm2b |
A |
T |
5: 123,127,112 (GRCm39) |
|
probably benign |
Het |
| Kif7 |
A |
T |
7: 79,356,585 (GRCm39) |
M702K |
probably benign |
Het |
| Lrrtm4 |
T |
A |
6: 79,999,426 (GRCm39) |
N279K |
probably damaging |
Het |
| Mcrip1 |
G |
A |
11: 120,435,542 (GRCm39) |
P31L |
probably damaging |
Het |
| Mettl25b |
A |
G |
3: 87,831,195 (GRCm39) |
I444T |
probably benign |
Het |
| Nf1 |
T |
A |
11: 79,362,315 (GRCm39) |
S1497R |
probably damaging |
Het |
| Nf1 |
T |
A |
11: 79,366,688 (GRCm39) |
I1607N |
probably damaging |
Het |
| Nrde2 |
G |
T |
12: 100,117,518 (GRCm39) |
T47K |
probably benign |
Het |
| Or5w12 |
C |
T |
2: 87,502,313 (GRCm39) |
V133I |
probably benign |
Het |
| Or6b2b |
T |
G |
1: 92,419,411 (GRCm39) |
E22A |
probably benign |
Het |
| Or6c1 |
T |
C |
10: 129,518,285 (GRCm39) |
T108A |
probably benign |
Het |
| Ppp1r15a |
T |
C |
7: 45,173,920 (GRCm39) |
D296G |
probably damaging |
Het |
| Prl7c1 |
C |
T |
13: 27,964,751 (GRCm39) |
|
probably benign |
Het |
| Prss42 |
G |
T |
9: 110,628,228 (GRCm39) |
R124L |
possibly damaging |
Het |
| Psmd1 |
T |
G |
1: 86,064,817 (GRCm39) |
Y950D |
probably damaging |
Het |
| Ptprr |
A |
T |
10: 116,024,119 (GRCm39) |
L250F |
possibly damaging |
Het |
| Rabgef1 |
T |
A |
5: 130,237,554 (GRCm39) |
M208K |
possibly damaging |
Het |
| Rps6ka2 |
A |
G |
17: 7,437,793 (GRCm39) |
Y17C |
probably damaging |
Het |
| Scart2 |
T |
A |
7: 139,877,806 (GRCm39) |
D929E |
probably damaging |
Het |
| Sec23ip |
T |
A |
7: 128,363,226 (GRCm39) |
C463S |
probably damaging |
Het |
| Serpina3n |
A |
G |
12: 104,379,710 (GRCm39) |
T368A |
probably damaging |
Het |
| Sez6l |
C |
T |
5: 112,609,083 (GRCm39) |
A589T |
probably benign |
Het |
| Smok2b |
G |
A |
17: 13,453,637 (GRCm39) |
|
probably null |
Het |
| Spag5 |
T |
A |
11: 78,192,823 (GRCm39) |
Y52N |
possibly damaging |
Het |
| Tenm3 |
G |
A |
8: 48,788,548 (GRCm39) |
S494L |
unknown |
Het |
| Top3b |
T |
C |
16: 16,701,299 (GRCm39) |
Y204H |
probably damaging |
Het |
| Trim43b |
C |
T |
9: 88,973,452 (GRCm39) |
V94M |
possibly damaging |
Het |
| Trps1 |
T |
G |
15: 50,524,658 (GRCm39) |
I1091L |
probably damaging |
Het |
| Ttk |
G |
A |
9: 83,725,741 (GRCm39) |
R221Q |
probably damaging |
Het |
| Ttn |
A |
C |
2: 76,549,466 (GRCm39) |
M31737R |
probably damaging |
Het |
| Uso1 |
T |
A |
5: 92,335,125 (GRCm39) |
L495* |
probably null |
Het |
| Usp19 |
A |
G |
9: 108,372,284 (GRCm39) |
D447G |
possibly damaging |
Het |
| Zdhhc2 |
A |
G |
8: 40,920,563 (GRCm39) |
E274G |
probably damaging |
Het |
| Zfp106 |
T |
A |
2: 120,350,935 (GRCm39) |
Y1595F |
probably damaging |
Het |
| Zfp932 |
A |
T |
5: 110,157,520 (GRCm39) |
H406L |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCTACCTTGAGCATGTTG -3'
(R):5'- TGCTGAGTAGGAACATCGGG -3'
Sequencing Primer
(F):5'- ACTGCGGTTGTGTATGGGACTTC -3'
(R):5'- AAAAAGCTGCATAAATGACATTTAGG -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation