Incidental Mutation 'R8907:Ppargc1a'
ID |
678433 |
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 |
068763-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.843)
|
Stock # |
R8907 (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 51647570 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 258
(S258T)
|
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 damaging
Transcript: ENSMUST00000031059
AA Change: S258T
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000138397 Gene: ENSMUSG00000029167 AA Change: S258T
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 damaging
Transcript: ENSMUST00000132734
AA Change: S258T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000117040 Gene: ENSMUSG00000029167 AA Change: S258T
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 damaging
Transcript: ENSMUST00000151104
AA Change: S254T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000116566 Gene: ENSMUSG00000029167 AA Change: S254T
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 damaging
Transcript: ENSMUST00000196968
AA Change: S258T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000143553 Gene: ENSMUSG00000029167 AA Change: S258T
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: 99.8%
- 20x: 99.4%
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5930422O12Rik |
A |
G |
8: 33,919,398 (GRCm39) |
I73V |
probably damaging |
Het |
Agap3 |
T |
C |
5: 24,679,629 (GRCm39) |
I109T |
probably benign |
Het |
Ahnak |
G |
A |
19: 8,986,452 (GRCm39) |
V2579M |
probably benign |
Het |
Akap13 |
T |
C |
7: 75,260,444 (GRCm39) |
S220P |
probably benign |
Het |
Akap13 |
C |
G |
7: 75,260,456 (GRCm39) |
P224A |
probably damaging |
Het |
Alpk1 |
G |
A |
3: 127,474,642 (GRCm39) |
Q454* |
probably null |
Het |
Asrgl1 |
C |
T |
19: 9,090,506 (GRCm39) |
G280D |
probably damaging |
Het |
Atp6v0d1 |
TTCTTACCTC |
T |
8: 106,251,782 (GRCm39) |
|
probably benign |
Het |
Atxn2l |
T |
A |
7: 126,099,425 (GRCm39) |
D204V |
probably damaging |
Het |
B430306N03Rik |
T |
C |
17: 48,628,100 (GRCm39) |
Y177H |
probably damaging |
Het |
Bcl2l14 |
G |
A |
6: 134,400,585 (GRCm39) |
C2Y |
probably damaging |
Het |
Bltp1 |
T |
A |
3: 37,002,295 (GRCm39) |
Y1413* |
probably null |
Het |
Bphl |
A |
T |
13: 34,230,930 (GRCm39) |
M125L |
possibly damaging |
Het |
Cdh10 |
A |
T |
15: 19,013,521 (GRCm39) |
N707I |
probably damaging |
Het |
Ceacam1 |
T |
A |
7: 25,171,444 (GRCm39) |
D340V |
possibly damaging |
Het |
Cklf |
G |
A |
8: 104,977,671 (GRCm39) |
V8I |
probably benign |
Het |
Cln5 |
A |
G |
14: 103,310,711 (GRCm39) |
N126S |
probably damaging |
Het |
Col5a2 |
A |
T |
1: 45,456,106 (GRCm39) |
M327K |
probably benign |
Het |
Col6a6 |
A |
T |
9: 105,644,528 (GRCm39) |
F1253L |
probably damaging |
Het |
Crb2 |
G |
A |
2: 37,685,395 (GRCm39) |
S1169N |
probably benign |
Het |
Cspg4 |
A |
T |
9: 56,790,967 (GRCm39) |
D72V |
probably damaging |
Het |
Ctnnd2 |
C |
T |
15: 30,905,873 (GRCm39) |
P840L |
probably damaging |
Het |
Eea1 |
T |
C |
10: 95,826,274 (GRCm39) |
Y105H |
probably damaging |
Het |
Epha4 |
A |
C |
1: 77,483,422 (GRCm39) |
S196A |
probably damaging |
Het |
Evx1 |
C |
T |
6: 52,293,746 (GRCm39) |
R305C |
probably damaging |
Het |
Fcamr |
G |
T |
1: 130,740,328 (GRCm39) |
G249V |
probably damaging |
Het |
Fdxacb1 |
C |
T |
9: 50,681,451 (GRCm39) |
T124I |
probably damaging |
Het |
Fmn1 |
T |
G |
2: 113,355,914 (GRCm39) |
L883R |
unknown |
Het |
Frmd4b |
T |
C |
6: 97,273,046 (GRCm39) |
N782S |
probably damaging |
Het |
Frmpd2 |
T |
G |
14: 33,248,380 (GRCm39) |
C621W |
probably damaging |
Het |
Fsip2 |
T |
A |
2: 82,816,984 (GRCm39) |
V4239D |
probably benign |
Het |
Gcnt4 |
A |
G |
13: 97,083,844 (GRCm39) |
Y380C |
probably damaging |
Het |
Gm7298 |
T |
C |
6: 121,741,817 (GRCm39) |
V413A |
probably benign |
Het |
Gstp3 |
C |
T |
19: 4,108,145 (GRCm39) |
V93M |
possibly damaging |
Het |
Helz2 |
A |
T |
2: 180,874,920 (GRCm39) |
M1858K |
possibly damaging |
Het |
Ighv1-7 |
T |
A |
12: 114,502,353 (GRCm39) |
K38M |
probably damaging |
Het |
Klri1 |
T |
C |
6: 129,680,283 (GRCm39) |
K124R |
probably null |
Het |
Kmt2c |
A |
T |
5: 25,514,609 (GRCm39) |
F3078Y |
probably damaging |
Het |
Map4k4 |
C |
T |
1: 40,058,770 (GRCm39) |
P988L |
probably damaging |
Het |
Mmrn1 |
G |
A |
6: 60,953,077 (GRCm39) |
E453K |
probably damaging |
Het |
Muc5b |
T |
A |
7: 141,417,875 (GRCm39) |
V3607E |
probably benign |
Het |
Myo15a |
T |
A |
11: 60,417,434 (GRCm39) |
I3461N |
|
Het |
Ngef |
G |
A |
1: 87,405,376 (GRCm39) |
S678F |
probably damaging |
Het |
Npc1l1 |
A |
T |
11: 6,178,157 (GRCm39) |
S418T |
probably benign |
Het |
Nprl2 |
A |
G |
9: 107,421,995 (GRCm39) |
D257G |
probably damaging |
Het |
Or4c113 |
A |
T |
2: 88,885,542 (GRCm39) |
V76D |
probably damaging |
Het |
Pard3b |
A |
G |
1: 62,383,294 (GRCm39) |
D796G |
probably benign |
Het |
Pcf11 |
T |
C |
7: 92,302,451 (GRCm39) |
T1220A |
probably benign |
Het |
Pkhd1 |
T |
C |
1: 20,187,785 (GRCm39) |
I3508V |
possibly damaging |
Het |
Prom1 |
A |
G |
5: 44,159,135 (GRCm39) |
Y830H |
probably damaging |
Het |
Ptprm |
T |
A |
17: 67,051,732 (GRCm39) |
H1001L |
probably damaging |
Het |
Rab8b |
A |
G |
9: 66,826,807 (GRCm39) |
F37L |
probably benign |
Het |
Rsf1 |
GGCG |
GGCGACGGCTGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,125 (GRCm39) |
|
probably benign |
Het |
Sdk1 |
A |
T |
5: 142,070,278 (GRCm39) |
I1148F |
probably damaging |
Het |
Sec62 |
A |
G |
3: 30,864,621 (GRCm39) |
K162E |
unknown |
Het |
Serpinb13 |
A |
T |
1: 106,928,519 (GRCm39) |
I380F |
probably damaging |
Het |
Sptb |
T |
C |
12: 76,634,186 (GRCm39) |
D2175G |
probably benign |
Het |
St3gal6 |
T |
C |
16: 58,314,095 (GRCm39) |
I13V |
probably benign |
Het |
Tfpi2 |
A |
T |
6: 3,967,996 (GRCm39) |
L48H |
probably damaging |
Het |
Tmem121b |
T |
A |
6: 120,469,707 (GRCm39) |
I337F |
probably damaging |
Het |
Tpbgl |
T |
C |
7: 99,275,182 (GRCm39) |
D225G |
probably benign |
Het |
Trpa1 |
A |
G |
1: 14,959,664 (GRCm39) |
V674A |
probably benign |
Het |
Trpa1 |
A |
G |
1: 14,963,563 (GRCm39) |
L553P |
probably damaging |
Het |
Tyrp1 |
T |
C |
4: 80,755,798 (GRCm39) |
V189A |
probably damaging |
Het |
Vmn1r19 |
G |
T |
6: 57,381,991 (GRCm39) |
M181I |
probably benign |
Het |
Vmn2r10 |
T |
C |
5: 109,149,791 (GRCm39) |
T418A |
probably benign |
Het |
Zfp617 |
A |
G |
8: 72,686,927 (GRCm39) |
Y419C |
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 |
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'- CTTGTTCTCAAATGGGGAACC -3'
(R):5'- GATGCATTTGTTGGAAAACTCTGTG -3'
Sequencing Primer
(F):5'- CCCTTGGGGTCACTGGAAGATATG -3'
(R):5'- GTACTGATTCAAATGTTGTTTGGAG -3'
|
Posted On |
2021-08-02 |