Incidental Mutation 'R7930:Ppargc1a'
| ID |
643516 |
| 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 |
045977-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.843)
|
| Stock # |
R7930 (G1)
|
| Quality Score |
999 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
51611592-51725068 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 51630264 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 618
(Y618N)
|
| 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: Y618N
|
| SMART Domains |
Protein: ENSMUSP00000117040
Gene: ENSMUSG00000029167
AA Change: Y618N
| 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 |
unknown
Transcript: ENSMUST00000196968
AA Change: Y618N
|
| SMART Domains |
Protein: ENSMUSP00000143553
Gene: ENSMUSG00000029167
AA Change: Y618N
| 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: 100.0%
- 10x: 99.9%
- 20x: 99.8%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam20 |
C |
T |
8: 41,250,107 (GRCm39) |
T739I |
probably benign |
Het |
| Adam23 |
G |
T |
1: 63,624,586 (GRCm39) |
V805F |
possibly damaging |
Het |
| Adamts17 |
A |
T |
7: 66,499,547 (GRCm39) |
R31S |
probably damaging |
Het |
| Ahnak2 |
T |
C |
12: 112,745,560 (GRCm39) |
E629G |
|
Het |
| Ano4 |
T |
A |
10: 89,163,138 (GRCm39) |
Y27F |
possibly damaging |
Het |
| Bbs2 |
A |
G |
8: 94,796,625 (GRCm39) |
V675A |
probably damaging |
Het |
| Brca2 |
A |
G |
5: 150,481,975 (GRCm39) |
E2839G |
probably damaging |
Het |
| Capn5 |
C |
T |
7: 97,773,085 (GRCm39) |
V640I |
probably benign |
Het |
| Casp4 |
C |
T |
9: 5,321,318 (GRCm39) |
T23M |
probably damaging |
Het |
| Cerk |
C |
T |
15: 86,028,920 (GRCm39) |
E379K |
possibly damaging |
Het |
| Comp |
G |
A |
8: 70,826,503 (GRCm39) |
G26D |
probably damaging |
Het |
| Cpxm1 |
G |
A |
2: 130,236,982 (GRCm39) |
A220V |
possibly damaging |
Het |
| Cracd |
GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG |
GCGCGAGGCCGAGAGGCAGG |
5: 77,004,801 (GRCm39) |
|
probably benign |
Het |
| Cyp2c69 |
G |
T |
19: 39,831,434 (GRCm39) |
P460T |
possibly damaging |
Het |
| Ddx23 |
T |
C |
15: 98,546,504 (GRCm39) |
D555G |
probably damaging |
Het |
| Dusp9 |
AAGGCCGAACCTAAGGCTGAAGCGGAGGCCGAACCTAAGGCTGAAGCGGAGGCCGAACCTAAGGCTGAAGCGGAG |
AAGGCCGAACCTAAGGCTGAAGCGGAGGCCGAACCTAAGGCTGAAGCGGAG |
X: 72,684,128 (GRCm39) |
|
probably benign |
Het |
| E2f6 |
T |
A |
12: 16,869,058 (GRCm39) |
I127K |
probably damaging |
Het |
| Efr3a |
T |
A |
15: 65,733,589 (GRCm39) |
D716E |
probably benign |
Het |
| Esp16 |
T |
G |
17: 39,850,868 (GRCm39) |
S82R |
possibly damaging |
Het |
| Fasn |
A |
C |
11: 120,700,061 (GRCm39) |
S2199A |
probably benign |
Het |
| Fscb |
A |
G |
12: 64,519,337 (GRCm39) |
S710P |
unknown |
Het |
| Gas7 |
A |
G |
11: 67,556,217 (GRCm39) |
I185M |
probably damaging |
Het |
| Glg1 |
A |
T |
8: 111,887,367 (GRCm39) |
L1047I |
possibly damaging |
Het |
| Gm10800 |
AAGAAAACTGAAAATCAT |
A |
2: 98,497,379 (GRCm39) |
|
probably benign |
Het |
| Gm7876 |
A |
T |
14: 4,711,357 (GRCm38) |
I124L |
possibly damaging |
Het |
| Golga5 |
A |
G |
12: 102,450,681 (GRCm39) |
N445D |
probably benign |
Het |
| Grin2c |
A |
T |
11: 115,147,063 (GRCm39) |
H377Q |
probably benign |
Het |
| Hmgcs1 |
T |
C |
13: 120,161,499 (GRCm39) |
I97T |
possibly damaging |
Het |
| Ifi211 |
T |
C |
1: 173,733,769 (GRCm39) |
T131A |
possibly damaging |
Het |
| Ifngr1 |
A |
G |
10: 19,484,931 (GRCm39) |
K310R |
probably damaging |
Het |
| Il18rap |
T |
C |
1: 40,587,803 (GRCm39) |
V467A |
probably damaging |
Het |
| Itgad |
C |
A |
7: 127,782,280 (GRCm39) |
Q239K |
probably benign |
Het |
| Jrkl |
T |
C |
9: 13,245,506 (GRCm39) |
I52V |
possibly damaging |
Het |
| Kdm6b |
A |
T |
11: 69,290,778 (GRCm39) |
D1630E |
unknown |
Het |
| Krt75 |
C |
A |
15: 101,473,318 (GRCm39) |
*552L |
probably null |
Het |
| Mbd2 |
A |
G |
18: 70,701,948 (GRCm39) |
D154G |
probably damaging |
Het |
| Muc4 |
C |
CTAG |
16: 32,575,369 (GRCm39) |
|
probably benign |
Het |
| Mutyh |
A |
T |
4: 116,674,153 (GRCm39) |
N235Y |
probably benign |
Het |
| Myo5b |
A |
G |
18: 74,864,825 (GRCm39) |
T1348A |
probably benign |
Het |
| Ndufs7 |
T |
C |
10: 80,089,619 (GRCm39) |
|
probably null |
Het |
| Nup205 |
T |
G |
6: 35,171,511 (GRCm39) |
M458R |
probably damaging |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Or1e32 |
A |
C |
11: 73,705,926 (GRCm39) |
|
probably benign |
Het |
| Or1j4 |
G |
T |
2: 36,740,285 (GRCm39) |
V76F |
probably damaging |
Het |
| Or2at1 |
A |
T |
7: 99,416,803 (GRCm39) |
T145S |
probably benign |
Het |
| Or5b119 |
G |
A |
19: 13,457,019 (GRCm39) |
P181L |
probably damaging |
Het |
| Or6b2 |
T |
A |
1: 92,407,570 (GRCm39) |
M258L |
probably benign |
Het |
| Or8b101 |
A |
G |
9: 38,020,264 (GRCm39) |
N89S |
possibly damaging |
Het |
| Or8k25 |
T |
A |
2: 86,243,560 (GRCm39) |
T279S |
probably damaging |
Het |
| Plcl2 |
T |
G |
17: 50,913,831 (GRCm39) |
I280S |
probably benign |
Het |
| Rab43 |
A |
T |
6: 87,788,348 (GRCm39) |
I60N |
probably damaging |
Het |
| Rnf126 |
A |
T |
10: 79,596,726 (GRCm39) |
C231S |
probably damaging |
Het |
| Rnf220 |
T |
A |
4: 117,164,787 (GRCm39) |
E238D |
probably damaging |
Het |
| Scn9a |
A |
T |
2: 66,335,193 (GRCm39) |
D1265E |
probably damaging |
Het |
| Sf3a2 |
ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT |
ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT |
10: 80,640,271 (GRCm39) |
|
probably benign |
Het |
| Sntb2 |
T |
A |
8: 107,728,269 (GRCm39) |
S406T |
probably damaging |
Het |
| Sos1 |
T |
C |
17: 80,714,267 (GRCm39) |
I1068V |
probably benign |
Het |
| Spart |
A |
G |
3: 55,035,697 (GRCm39) |
K519E |
probably damaging |
Het |
| Tlx3 |
A |
T |
11: 33,153,058 (GRCm39) |
F134L |
probably damaging |
Het |
| Trbj1-2 |
A |
T |
6: 41,510,964 (GRCm39) |
T10S |
|
Het |
| Txk |
A |
C |
5: 72,892,536 (GRCm39) |
L33R |
probably damaging |
Het |
| Ulk2 |
A |
G |
11: 61,682,258 (GRCm39) |
|
probably null |
Het |
| Usp20 |
T |
C |
2: 30,900,556 (GRCm39) |
S357P |
probably benign |
Het |
| Wac |
T |
A |
18: 7,921,560 (GRCm39) |
N565K |
possibly damaging |
Het |
| Zfp1007 |
A |
T |
5: 109,823,622 (GRCm39) |
C609* |
probably null |
Het |
| Zfp709 |
G |
T |
8: 72,644,684 (GRCm39) |
K704N |
probably damaging |
Het |
| Zfp788 |
C |
T |
7: 41,299,049 (GRCm39) |
Q562* |
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCTTCATAGCTGTCGTACC -3'
(R):5'- CCTCGGAAGATCTTGCTAGG -3'
Sequencing Primer
(F):5'- CATAGCTGTCGTACCTGGGAAATAC -3'
(R):5'- TCTTGCTAGGAGAGAAAAGGCAATCC -3'
|
| Posted On |
2020-08-07 |
Incidental Mutation