Incidental Mutation 'IGL02675:Pprc1'
| ID |
303073 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02675
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
46044955-46061348 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 46051946 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 491
(G491D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107530
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062322]
[ENSMUST00000099392]
[ENSMUST00000111899]
[ENSMUST00000126127]
[ENSMUST00000135327]
[ENSMUST00000147640]
[ENSMUST00000150158]
|
| AlphaFold |
Q6NZN1 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000062322
AA Change: G492D
|
| SMART Domains |
Protein: ENSMUSP00000079389
Gene: ENSMUSG00000055491
AA Change: G492D
| 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
AA Change: G488D
PolyPhen 2
Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000096990
Gene: ENSMUSG00000055491
AA Change: G488D
| 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 |
probably damaging
Transcript: ENSMUST00000111899
AA Change: G491D
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000107530
Gene: ENSMUSG00000055491
AA Change: G491D
| 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 |
probably benign
Transcript: ENSMUST00000126127
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128386
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133101
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134015
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153111
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135327
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147640
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150158
|
| SMART Domains |
Protein: ENSMUSP00000120475
Gene: ENSMUSG00000055491
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
70 |
86 |
N/A |
INTRINSIC |
|
low complexity region
|
102 |
128 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano8 |
A |
G |
8: 71,936,184 (GRCm39) |
I204T |
probably damaging |
Het |
| Anxa8 |
A |
G |
14: 33,815,371 (GRCm39) |
D150G |
probably damaging |
Het |
| Arel1 |
T |
C |
12: 84,977,002 (GRCm39) |
T438A |
probably damaging |
Het |
| Asphd1 |
T |
C |
7: 126,546,006 (GRCm39) |
|
probably benign |
Het |
| Bcl2l12 |
A |
T |
7: 44,640,824 (GRCm39) |
|
probably benign |
Het |
| Cand1 |
A |
G |
10: 119,055,602 (GRCm39) |
I87T |
probably damaging |
Het |
| Ccdc80 |
A |
C |
16: 44,936,695 (GRCm39) |
T707P |
probably damaging |
Het |
| Ccn6 |
A |
G |
10: 39,027,236 (GRCm39) |
V332A |
possibly damaging |
Het |
| Cdh9 |
T |
A |
15: 16,849,162 (GRCm39) |
|
probably null |
Het |
| Chrd |
T |
C |
16: 20,558,699 (GRCm39) |
|
probably benign |
Het |
| Cpn1 |
T |
C |
19: 43,969,369 (GRCm39) |
Q98R |
probably benign |
Het |
| D630045J12Rik |
A |
G |
6: 38,172,420 (GRCm39) |
S583P |
possibly damaging |
Het |
| Dnah7a |
A |
G |
1: 53,543,183 (GRCm39) |
I2329T |
possibly damaging |
Het |
| Egln3 |
A |
G |
12: 54,249,996 (GRCm39) |
S118P |
probably benign |
Het |
| Gfra1 |
G |
A |
19: 58,441,787 (GRCm39) |
T48I |
probably damaging |
Het |
| Hapln3 |
C |
T |
7: 78,767,596 (GRCm39) |
|
probably null |
Het |
| Heatr3 |
T |
C |
8: 88,871,185 (GRCm39) |
F180L |
possibly damaging |
Het |
| Herc2 |
T |
A |
7: 55,813,849 (GRCm39) |
S2661T |
probably damaging |
Het |
| Hook3 |
A |
T |
8: 26,551,462 (GRCm39) |
L126Q |
possibly damaging |
Het |
| Hoxd8 |
T |
G |
2: 74,536,930 (GRCm39) |
L214R |
probably damaging |
Het |
| Ifna1 |
T |
G |
4: 88,768,670 (GRCm39) |
L116R |
probably damaging |
Het |
| Il31ra |
T |
A |
13: 112,660,886 (GRCm39) |
T487S |
probably benign |
Het |
| Kifc2 |
C |
T |
15: 76,547,179 (GRCm39) |
R252W |
probably damaging |
Het |
| Meox2 |
A |
G |
12: 37,228,333 (GRCm39) |
D290G |
probably damaging |
Het |
| Micu2 |
A |
G |
14: 58,182,834 (GRCm39) |
|
probably benign |
Het |
| Myh9 |
T |
C |
15: 77,673,130 (GRCm39) |
T406A |
possibly damaging |
Het |
| Naip1 |
T |
A |
13: 100,545,626 (GRCm39) |
M1301L |
probably benign |
Het |
| Pbrm1 |
T |
C |
14: 30,828,244 (GRCm39) |
L1341P |
possibly damaging |
Het |
| Pcna-ps2 |
C |
A |
19: 9,261,323 (GRCm39) |
A194E |
probably benign |
Het |
| Pdcd10 |
G |
A |
3: 75,434,901 (GRCm39) |
T130I |
probably damaging |
Het |
| Prss57 |
A |
G |
10: 79,623,309 (GRCm39) |
V46A |
probably benign |
Het |
| Ptcd3 |
A |
G |
6: 71,860,426 (GRCm39) |
|
probably null |
Het |
| Riok1 |
C |
T |
13: 38,234,219 (GRCm39) |
P262S |
probably damaging |
Het |
| Rnf13 |
A |
G |
3: 57,686,817 (GRCm39) |
N70S |
probably benign |
Het |
| Skint7 |
T |
A |
4: 111,839,178 (GRCm39) |
D157E |
probably benign |
Het |
| Sri |
T |
C |
5: 8,117,534 (GRCm39) |
F191S |
probably damaging |
Het |
| Stat5b |
T |
C |
11: 100,678,200 (GRCm39) |
R638G |
probably benign |
Het |
| Suds3 |
C |
T |
5: 117,232,970 (GRCm39) |
|
probably null |
Het |
| Tmem19 |
A |
G |
10: 115,178,478 (GRCm39) |
L281P |
probably damaging |
Het |
| Tmf1 |
A |
G |
6: 97,141,003 (GRCm39) |
|
probably benign |
Het |
| Trio |
A |
G |
15: 27,768,125 (GRCm39) |
|
probably benign |
Het |
| Usp28 |
T |
C |
9: 48,950,391 (GRCm39) |
I940T |
possibly damaging |
Het |
| Zfp280d |
T |
A |
9: 72,219,504 (GRCm39) |
I227K |
probably benign |
Het |
| Zfp335 |
A |
G |
2: 164,752,609 (GRCm39) |
V45A |
probably benign |
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 |
|
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 |
|
|
R4698:Pprc1
|
UTSW |
19 |
46,057,634 (GRCm39) |
intron |
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation