Incidental Mutation 'R4698:Pprc1'
| ID |
355876 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pprc1
|
| Ensembl Gene |
ENSMUSG00000055491 |
| Gene Name |
peroxisome proliferative activated receptor, gamma, coactivator-related 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4698 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
46044955-46061348 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 46057634 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096990
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062322]
[ENSMUST00000099392]
[ENSMUST00000111899]
|
| AlphaFold |
Q6NZN1 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000062322
AA Change: L1263P
|
| SMART Domains |
Protein: ENSMUSP00000079389
Gene: ENSMUSG00000055491
AA Change: L1263P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
214 |
240 |
N/A |
INTRINSIC |
|
low complexity region
|
448 |
459 |
N/A |
INTRINSIC |
|
low complexity region
|
516 |
525 |
N/A |
INTRINSIC |
|
low complexity region
|
646 |
661 |
N/A |
INTRINSIC |
|
low complexity region
|
732 |
739 |
N/A |
INTRINSIC |
|
low complexity region
|
826 |
887 |
N/A |
INTRINSIC |
|
low complexity region
|
915 |
925 |
N/A |
INTRINSIC |
|
low complexity region
|
939 |
960 |
N/A |
INTRINSIC |
|
low complexity region
|
979 |
991 |
N/A |
INTRINSIC |
|
low complexity region
|
1020 |
1033 |
N/A |
INTRINSIC |
|
low complexity region
|
1224 |
1240 |
N/A |
INTRINSIC |
|
low complexity region
|
1397 |
1446 |
N/A |
INTRINSIC |
|
low complexity region
|
1453 |
1504 |
N/A |
INTRINSIC |
|
RRM
|
1526 |
1597 |
3.36e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099392
|
| SMART Domains |
Protein: ENSMUSP00000096990
Gene: ENSMUSG00000055491
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
210 |
236 |
N/A |
INTRINSIC |
|
low complexity region
|
444 |
455 |
N/A |
INTRINSIC |
|
low complexity region
|
512 |
521 |
N/A |
INTRINSIC |
|
low complexity region
|
642 |
657 |
N/A |
INTRINSIC |
|
low complexity region
|
728 |
735 |
N/A |
INTRINSIC |
|
low complexity region
|
822 |
883 |
N/A |
INTRINSIC |
|
low complexity region
|
911 |
921 |
N/A |
INTRINSIC |
|
low complexity region
|
935 |
956 |
N/A |
INTRINSIC |
|
low complexity region
|
975 |
987 |
N/A |
INTRINSIC |
|
low complexity region
|
1016 |
1029 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000111899
AA Change: L1261P
|
| SMART Domains |
Protein: ENSMUSP00000107530
Gene: ENSMUSG00000055491
AA Change: L1261P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
239 |
N/A |
INTRINSIC |
|
low complexity region
|
447 |
458 |
N/A |
INTRINSIC |
|
low complexity region
|
515 |
524 |
N/A |
INTRINSIC |
|
low complexity region
|
645 |
660 |
N/A |
INTRINSIC |
|
low complexity region
|
731 |
738 |
N/A |
INTRINSIC |
|
low complexity region
|
825 |
886 |
N/A |
INTRINSIC |
|
low complexity region
|
914 |
924 |
N/A |
INTRINSIC |
|
low complexity region
|
938 |
959 |
N/A |
INTRINSIC |
|
low complexity region
|
978 |
990 |
N/A |
INTRINSIC |
|
low complexity region
|
1019 |
1032 |
N/A |
INTRINSIC |
|
low complexity region
|
1222 |
1238 |
N/A |
INTRINSIC |
|
low complexity region
|
1395 |
1444 |
N/A |
INTRINSIC |
|
low complexity region
|
1451 |
1502 |
N/A |
INTRINSIC |
|
RRM
|
1524 |
1595 |
3.36e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133101
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146882
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153111
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar to PPAR-gamma coactivator 1 (PPARGC1/PGC-1), a protein that can activate mitochondrial biogenesis in part through a direct interaction with nuclear respiratory factor 1 (NRF1). This protein has been shown to interact with NRF1. It is thought to be a functional relative of PPAR-gamma coactivator 1 that activates mitochondrial biogenesis through NRF1 in response to proliferative signals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit letahlity post-implantation with delayed hatching and disorganized embryo tissues. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700122O11Rik |
A |
G |
17: 48,349,049 (GRCm39) |
V11A |
possibly damaging |
Het |
| 6030452D12Rik |
T |
C |
8: 107,230,979 (GRCm39) |
I55T |
unknown |
Het |
| Aadacl2 |
A |
G |
3: 59,932,460 (GRCm39) |
D325G |
probably benign |
Het |
| Adh1 |
A |
G |
3: 137,988,274 (GRCm39) |
S113G |
probably benign |
Het |
| Agxt2 |
T |
C |
15: 10,392,130 (GRCm39) |
|
probably null |
Het |
| Aicda |
C |
T |
6: 122,530,847 (GRCm39) |
|
probably benign |
Het |
| Aifm2 |
T |
C |
10: 61,563,535 (GRCm39) |
M135T |
probably benign |
Het |
| Asah2 |
T |
C |
19: 32,031,871 (GRCm39) |
|
probably null |
Het |
| Btbd17 |
T |
C |
11: 114,682,543 (GRCm39) |
R390G |
probably damaging |
Het |
| Cadps |
T |
C |
14: 12,705,654 (GRCm38) |
E247G |
possibly damaging |
Het |
| Cds2 |
T |
C |
2: 132,146,873 (GRCm39) |
I383T |
probably damaging |
Het |
| Celf3 |
T |
A |
3: 94,392,174 (GRCm39) |
|
probably null |
Het |
| Crhr2 |
T |
C |
6: 55,079,852 (GRCm39) |
S162G |
possibly damaging |
Het |
| Dapl1 |
A |
T |
2: 59,335,118 (GRCm39) |
K91* |
probably null |
Het |
| Ddx60 |
A |
C |
8: 62,465,458 (GRCm39) |
M1372L |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,389,358 (GRCm39) |
F845I |
probably damaging |
Het |
| Dscam |
T |
C |
16: 96,411,524 (GRCm39) |
D1784G |
probably damaging |
Het |
| Ech1 |
T |
C |
7: 28,531,478 (GRCm39) |
V310A |
probably benign |
Het |
| Eef1g |
A |
G |
19: 8,955,330 (GRCm39) |
D393G |
possibly damaging |
Het |
| Eif3k |
T |
C |
7: 28,671,969 (GRCm39) |
I172V |
possibly damaging |
Het |
| Foxd4 |
A |
G |
19: 24,877,625 (GRCm39) |
F192L |
probably damaging |
Het |
| Gpr153 |
T |
A |
4: 152,366,240 (GRCm39) |
S268R |
probably damaging |
Het |
| H3c13 |
C |
A |
3: 96,176,394 (GRCm39) |
R129S |
probably damaging |
Het |
| Ivl |
T |
C |
3: 92,478,698 (GRCm39) |
K456E |
unknown |
Het |
| Kif20b |
A |
T |
19: 34,928,944 (GRCm39) |
D1190V |
probably damaging |
Het |
| Kif21a |
T |
A |
15: 90,840,508 (GRCm39) |
I1223L |
possibly damaging |
Het |
| Lmf1 |
T |
C |
17: 25,798,324 (GRCm39) |
V55A |
probably damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,459,987 (GRCm39) |
E659G |
possibly damaging |
Het |
| Lrrc37a |
T |
C |
11: 103,394,930 (GRCm39) |
E165G |
possibly damaging |
Het |
| Mios |
T |
C |
6: 8,228,113 (GRCm39) |
Y677H |
possibly damaging |
Het |
| Mnx1 |
T |
A |
5: 29,679,057 (GRCm39) |
K342M |
unknown |
Het |
| Mtpap |
A |
T |
18: 4,375,724 (GRCm39) |
T35S |
possibly damaging |
Het |
| Ndc1 |
C |
G |
4: 107,268,334 (GRCm39) |
D623E |
probably benign |
Het |
| Nedd4l |
A |
G |
18: 65,336,951 (GRCm39) |
Y666C |
probably damaging |
Het |
| Or52s6 |
T |
A |
7: 103,091,842 (GRCm39) |
I163F |
possibly damaging |
Het |
| Or5ac22 |
T |
C |
16: 59,135,720 (GRCm39) |
T17A |
probably damaging |
Het |
| Or5b12b |
T |
G |
19: 12,861,985 (GRCm39) |
F247V |
probably benign |
Het |
| Or5m10b |
A |
G |
2: 85,699,596 (GRCm39) |
Y220C |
possibly damaging |
Het |
| Papss1 |
G |
T |
3: 131,313,092 (GRCm39) |
V369F |
probably damaging |
Het |
| Pcdhac2 |
T |
A |
18: 37,278,822 (GRCm39) |
Y601N |
probably damaging |
Het |
| Pde7a |
C |
T |
3: 19,365,095 (GRCm39) |
R24Q |
probably damaging |
Het |
| Phf21a |
A |
G |
2: 92,187,297 (GRCm39) |
D445G |
probably damaging |
Het |
| Plekho1 |
T |
A |
3: 95,902,964 (GRCm39) |
N15I |
possibly damaging |
Het |
| Ralgapa1 |
A |
T |
12: 55,724,061 (GRCm39) |
|
probably null |
Het |
| Rrp12 |
T |
C |
19: 41,861,481 (GRCm39) |
E942G |
probably benign |
Het |
| Skor1 |
T |
C |
9: 63,051,830 (GRCm39) |
D685G |
probably benign |
Het |
| Smim23 |
A |
T |
11: 32,774,510 (GRCm39) |
I3N |
possibly damaging |
Het |
| Spata7 |
A |
T |
12: 98,630,536 (GRCm39) |
I333F |
probably damaging |
Het |
| Sppl2c |
T |
C |
11: 104,079,141 (GRCm39) |
I647T |
probably benign |
Het |
| Srgap1 |
C |
A |
10: 121,628,392 (GRCm39) |
R837L |
probably benign |
Het |
| Stpg2 |
C |
A |
3: 139,014,990 (GRCm39) |
P385H |
probably damaging |
Het |
| Tmem238 |
C |
A |
7: 4,792,016 (GRCm39) |
E19* |
probably null |
Het |
| Top2b |
A |
T |
14: 16,387,331 (GRCm38) |
K140* |
probably null |
Het |
| Trp53 |
T |
A |
11: 69,479,248 (GRCm39) |
L142* |
probably null |
Het |
| Tyro3 |
A |
T |
2: 119,633,751 (GRCm39) |
D133V |
probably damaging |
Het |
| Virma |
T |
A |
4: 11,528,636 (GRCm39) |
I1291N |
probably damaging |
Het |
| Vmn1r213 |
A |
G |
13: 23,195,507 (GRCm39) |
|
probably benign |
Het |
| Zbtb10 |
T |
C |
3: 9,329,610 (GRCm39) |
S323P |
possibly damaging |
Het |
| Zfp521 |
A |
T |
18: 13,978,660 (GRCm39) |
N584K |
probably damaging |
Het |
| Zfp944 |
A |
G |
17: 22,558,180 (GRCm39) |
C356R |
probably damaging |
Het |
|
| Other mutations in Pprc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00585:Pprc1
|
APN |
19 |
46,051,087 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL00825:Pprc1
|
APN |
19 |
46,059,845 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01445:Pprc1
|
APN |
19 |
46,053,671 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01449:Pprc1
|
APN |
19 |
46,053,671 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01475:Pprc1
|
APN |
19 |
46,059,968 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01750:Pprc1
|
APN |
19 |
46,060,268 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01779:Pprc1
|
APN |
19 |
46,050,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01943:Pprc1
|
APN |
19 |
46,052,983 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02031:Pprc1
|
APN |
19 |
46,060,782 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02145:Pprc1
|
APN |
19 |
46,053,329 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02206:Pprc1
|
APN |
19 |
46,060,190 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02439:Pprc1
|
APN |
19 |
46,060,758 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02675:Pprc1
|
APN |
19 |
46,051,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03185:Pprc1
|
APN |
19 |
46,058,186 (GRCm39) |
intron |
probably benign |
|
|
IGL03325:Pprc1
|
APN |
19 |
46,049,948 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0125:Pprc1
|
UTSW |
19 |
46,057,951 (GRCm39) |
intron |
probably benign |
|
|
R0388:Pprc1
|
UTSW |
19 |
46,051,214 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0498:Pprc1
|
UTSW |
19 |
46,060,007 (GRCm39) |
nonsense |
probably null |
|
|
R1129:Pprc1
|
UTSW |
19 |
46,052,245 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1439:Pprc1
|
UTSW |
19 |
46,052,175 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1536:Pprc1
|
UTSW |
19 |
46,059,965 (GRCm39) |
unclassified |
probably benign |
|
|
R4551:Pprc1
|
UTSW |
19 |
46,055,664 (GRCm39) |
unclassified |
probably benign |
|
|
R4822:Pprc1
|
UTSW |
19 |
46,059,795 (GRCm39) |
unclassified |
probably benign |
|
|
R4909:Pprc1
|
UTSW |
19 |
46,052,758 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4931:Pprc1
|
UTSW |
19 |
46,059,755 (GRCm39) |
unclassified |
probably benign |
|
|
R5132:Pprc1
|
UTSW |
19 |
46,061,121 (GRCm39) |
unclassified |
probably benign |
|
|
R5157:Pprc1
|
UTSW |
19 |
46,053,197 (GRCm39) |
unclassified |
probably benign |
|
|
R5834:Pprc1
|
UTSW |
19 |
46,053,659 (GRCm39) |
unclassified |
probably benign |
|
|
R5938:Pprc1
|
UTSW |
19 |
46,059,755 (GRCm39) |
unclassified |
probably benign |
|
|
R5947:Pprc1
|
UTSW |
19 |
46,052,111 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5975:Pprc1
|
UTSW |
19 |
46,053,809 (GRCm39) |
unclassified |
probably benign |
|
|
R6009:Pprc1
|
UTSW |
19 |
46,060,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6259:Pprc1
|
UTSW |
19 |
46,052,849 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6954:Pprc1
|
UTSW |
19 |
46,052,872 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7287:Pprc1
|
UTSW |
19 |
46,059,793 (GRCm39) |
missense |
unknown |
|
|
R7355:Pprc1
|
UTSW |
19 |
46,053,785 (GRCm39) |
missense |
unknown |
|
|
R7527:Pprc1
|
UTSW |
19 |
46,057,804 (GRCm39) |
missense |
unknown |
|
|
R7632:Pprc1
|
UTSW |
19 |
46,060,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7745:Pprc1
|
UTSW |
19 |
46,053,781 (GRCm39) |
missense |
unknown |
|
|
R7896:Pprc1
|
UTSW |
19 |
46,049,888 (GRCm39) |
missense |
unknown |
|
|
R8904:Pprc1
|
UTSW |
19 |
46,060,183 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8966:Pprc1
|
UTSW |
19 |
46,054,118 (GRCm39) |
missense |
unknown |
|
|
R9261:Pprc1
|
UTSW |
19 |
46,050,868 (GRCm39) |
missense |
unknown |
|
|
R9337:Pprc1
|
UTSW |
19 |
46,052,198 (GRCm39) |
missense |
unknown |
|
|
R9509:Pprc1
|
UTSW |
19 |
46,051,838 (GRCm39) |
missense |
unknown |
|
|
R9513:Pprc1
|
UTSW |
19 |
46,056,500 (GRCm39) |
nonsense |
probably null |
|
|
R9728:Pprc1
|
UTSW |
19 |
46,060,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9761:Pprc1
|
UTSW |
19 |
46,049,998 (GRCm39) |
missense |
unknown |
|
|
Z1177:Pprc1
|
UTSW |
19 |
46,050,845 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTGGGGACTTGAGCCTAG -3'
(R):5'- CAATGACAACACAGGCTTGATG -3'
Sequencing Primer
(F):5'- TGGAGTATAAAACTGGATCTCACCC -3'
(R):5'- CAACACAGGCTTGATGGTGATGTC -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation