Incidental Mutation 'IGL01750:Pprc1'
| ID |
153121 |
| 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 # |
IGL01750
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
46044955-46061348 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 46060268 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153545
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062322]
[ENSMUST00000099392]
[ENSMUST00000111899]
[ENSMUST00000165017]
[ENSMUST00000224490]
[ENSMUST00000225780]
[ENSMUST00000223741]
[ENSMUST00000223728]
|
| AlphaFold |
Q6NZN1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062322
|
| SMART Domains |
Protein: ENSMUSP00000079389
Gene: ENSMUSG00000055491
| 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 |
probably benign
Transcript: ENSMUST00000111899
|
| SMART Domains |
Protein: ENSMUSP00000107530
Gene: ENSMUSG00000055491
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165017
|
| SMART Domains |
Protein: ENSMUSP00000128331
Gene: ENSMUSG00000015176
| Domain | Start | End | E-Value | Type |
|---|
|
LisH
|
10 |
42 |
2.3e-2 |
SMART |
|
low complexity region
|
76 |
100 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
187 |
N/A |
INTRINSIC |
|
low complexity region
|
189 |
210 |
N/A |
INTRINSIC |
|
low complexity region
|
224 |
272 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
297 |
313 |
N/A |
INTRINSIC |
|
low complexity region
|
315 |
328 |
N/A |
INTRINSIC |
|
low complexity region
|
329 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
353 |
383 |
N/A |
INTRINSIC |
|
low complexity region
|
429 |
470 |
N/A |
INTRINSIC |
|
low complexity region
|
472 |
486 |
N/A |
INTRINSIC |
|
low complexity region
|
489 |
501 |
N/A |
INTRINSIC |
|
low complexity region
|
509 |
538 |
N/A |
INTRINSIC |
|
low complexity region
|
558 |
579 |
N/A |
INTRINSIC |
|
Pfam:SRP40_C
|
627 |
699 |
1.1e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224490
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225780
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223741
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225758
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223728
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224434
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223683
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk3 |
A |
G |
7: 80,742,030 (GRCm39) |
R616G |
probably damaging |
Het |
| Cacna1b |
G |
A |
2: 24,544,407 (GRCm39) |
P1260S |
probably damaging |
Het |
| Ccz1 |
A |
T |
5: 143,940,880 (GRCm39) |
Y225N |
probably damaging |
Het |
| Col15a1 |
C |
T |
4: 47,303,897 (GRCm39) |
P1101S |
probably damaging |
Het |
| Cyp2d22 |
T |
A |
15: 82,258,570 (GRCm39) |
H97L |
probably benign |
Het |
| Emsy |
G |
A |
7: 98,268,508 (GRCm39) |
S511F |
probably damaging |
Het |
| Fnbp1l |
G |
T |
3: 122,338,326 (GRCm39) |
Y351* |
probably null |
Het |
| Gm5263 |
T |
G |
1: 146,296,302 (GRCm39) |
|
noncoding transcript |
Het |
| Hook2 |
T |
C |
8: 85,719,865 (GRCm39) |
|
probably null |
Het |
| Hrob |
T |
C |
11: 102,145,777 (GRCm39) |
|
probably benign |
Het |
| Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,751,049 (GRCm39) |
|
probably benign |
Het |
| Lpin1 |
T |
C |
12: 16,627,177 (GRCm39) |
N123S |
probably benign |
Het |
| Man2c1 |
T |
C |
9: 57,048,064 (GRCm39) |
|
probably null |
Het |
| Obscn |
T |
C |
11: 58,922,465 (GRCm39) |
E6558G |
probably damaging |
Het |
| Or2j6 |
T |
C |
7: 139,980,570 (GRCm39) |
T130A |
probably benign |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
| Pcdh7 |
A |
G |
5: 57,877,764 (GRCm39) |
T440A |
probably damaging |
Het |
| Pitx1 |
A |
G |
13: 55,974,304 (GRCm39) |
Y176H |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,057,589 (GRCm39) |
V4116A |
probably damaging |
Het |
| Polrmt |
A |
G |
10: 79,575,680 (GRCm39) |
V617A |
possibly damaging |
Het |
| Rbm19 |
G |
A |
5: 120,256,857 (GRCm39) |
A57T |
probably benign |
Het |
| Rin1 |
T |
C |
19: 5,102,064 (GRCm39) |
I134T |
possibly damaging |
Het |
| Thumpd2 |
G |
A |
17: 81,361,815 (GRCm39) |
A137V |
probably benign |
Het |
| Tle4 |
T |
C |
19: 14,427,153 (GRCm39) |
Y756C |
probably damaging |
Het |
| Tln1 |
A |
G |
4: 43,545,435 (GRCm39) |
L986P |
probably damaging |
Het |
| Tmem132c |
C |
A |
5: 127,540,023 (GRCm39) |
Q350K |
possibly damaging |
Het |
| Zfp474 |
A |
G |
18: 52,772,349 (GRCm39) |
N334S |
possibly 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 |
|
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 |
|
|
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 |
2014-02-04 |
Incidental Mutation