Incidental Mutation 'R5947:Pprc1'
ID |
472263 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pprc1
|
Ensembl Gene |
ENSMUSG00000055491 |
Gene Name |
peroxisome proliferative activated receptor, gamma, coactivator-related 1 |
Synonyms |
|
MMRRC Submission |
044138-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5947 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
46044955-46061348 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 46052111 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 546
(D546G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107530
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062322]
[ENSMUST00000099392]
[ENSMUST00000111899]
[ENSMUST00000126127]
[ENSMUST00000135327]
[ENSMUST00000150158]
[ENSMUST00000147640]
|
AlphaFold |
Q6NZN1 |
Predicted Effect |
unknown
Transcript: ENSMUST00000062322
AA Change: D547G
|
SMART Domains |
Protein: ENSMUSP00000079389 Gene: ENSMUSG00000055491 AA Change: D547G
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: D543G
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000096990 Gene: ENSMUSG00000055491 AA Change: D543G
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 |
possibly damaging
Transcript: ENSMUST00000111899
AA Change: D546G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000107530 Gene: ENSMUSG00000055491 AA Change: D546G
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: ENSMUST00000153111
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134015
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135327
|
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147640
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.1%
|
Validation Efficiency |
100% (70/70) |
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 |
Abcb10 |
T |
C |
8: 124,694,737 (GRCm39) |
|
probably null |
Het |
Abt1 |
T |
C |
13: 23,606,225 (GRCm39) |
E243G |
possibly damaging |
Het |
Afap1l1 |
A |
G |
18: 61,876,771 (GRCm39) |
S361P |
probably damaging |
Het |
Alms1 |
T |
C |
6: 85,596,694 (GRCm39) |
S507P |
probably benign |
Het |
Atp13a3 |
A |
G |
16: 30,181,518 (GRCm39) |
V34A |
probably benign |
Het |
Atpaf2 |
A |
T |
11: 60,296,708 (GRCm39) |
|
probably benign |
Het |
Bbs1 |
A |
C |
19: 4,943,022 (GRCm39) |
L456R |
probably benign |
Het |
Bri3bp |
G |
T |
5: 125,529,217 (GRCm39) |
G84* |
probably null |
Het |
Bri3bp |
G |
C |
5: 125,529,218 (GRCm39) |
|
probably benign |
Het |
Car10 |
A |
C |
11: 93,381,439 (GRCm39) |
H134P |
probably damaging |
Het |
Cntrl |
A |
G |
2: 35,006,691 (GRCm39) |
E119G |
probably damaging |
Het |
Cxcl3 |
C |
T |
5: 90,934,175 (GRCm39) |
|
probably benign |
Het |
Dppa4 |
T |
C |
16: 48,111,471 (GRCm39) |
V100A |
possibly damaging |
Het |
Elmo1 |
G |
T |
13: 20,474,553 (GRCm39) |
E105* |
probably null |
Het |
Esrp2 |
T |
G |
8: 106,859,565 (GRCm39) |
|
probably benign |
Het |
Exoc3l4 |
A |
G |
12: 111,388,835 (GRCm39) |
K108R |
possibly damaging |
Het |
Exph5 |
G |
A |
9: 53,286,522 (GRCm39) |
R1201H |
probably benign |
Het |
Galnt3 |
A |
C |
2: 65,914,500 (GRCm39) |
|
probably benign |
Het |
Gm14486 |
C |
T |
2: 30,548,813 (GRCm39) |
|
noncoding transcript |
Het |
Gna12 |
T |
A |
5: 140,746,717 (GRCm39) |
I243F |
probably damaging |
Het |
Itga5 |
A |
T |
15: 103,265,212 (GRCm39) |
W232R |
probably damaging |
Het |
Lekr1 |
A |
T |
3: 65,680,498 (GRCm39) |
|
noncoding transcript |
Het |
Lrp1 |
C |
T |
10: 127,425,423 (GRCm39) |
|
probably null |
Het |
Mast4 |
T |
C |
13: 102,872,148 (GRCm39) |
M2215V |
probably benign |
Het |
Mfap5 |
T |
C |
6: 122,502,945 (GRCm39) |
Y52H |
probably damaging |
Het |
Mrps31 |
A |
G |
8: 22,904,991 (GRCm39) |
K127E |
possibly damaging |
Het |
Mto1 |
C |
T |
9: 78,368,311 (GRCm39) |
T485M |
probably damaging |
Het |
Mybbp1a |
G |
A |
11: 72,333,257 (GRCm39) |
C107Y |
probably damaging |
Het |
Nedd4 |
G |
A |
9: 72,638,132 (GRCm39) |
|
probably benign |
Het |
Nek2 |
A |
G |
1: 191,561,597 (GRCm39) |
E360G |
probably benign |
Het |
Notch1 |
T |
A |
2: 26,352,540 (GRCm39) |
|
probably benign |
Het |
Nubp1 |
T |
C |
16: 10,238,050 (GRCm39) |
|
probably benign |
Het |
Pcdhb1 |
G |
A |
18: 37,399,726 (GRCm39) |
R559H |
possibly damaging |
Het |
Pdcd11 |
G |
A |
19: 47,117,702 (GRCm39) |
V1684I |
probably benign |
Het |
Pggt1b |
G |
T |
18: 46,382,007 (GRCm39) |
N258K |
probably benign |
Het |
Pou6f1 |
C |
T |
15: 100,484,001 (GRCm39) |
V166M |
possibly damaging |
Het |
Psapl1 |
T |
C |
5: 36,361,651 (GRCm39) |
V81A |
probably benign |
Het |
Rin2 |
T |
A |
2: 145,686,863 (GRCm39) |
|
probably benign |
Het |
Rpf1 |
A |
G |
3: 146,212,299 (GRCm39) |
F347S |
probably damaging |
Het |
Rrp12 |
A |
T |
19: 41,859,247 (GRCm39) |
|
probably null |
Het |
Ryr1 |
A |
T |
7: 28,771,349 (GRCm39) |
L2557Q |
probably null |
Het |
Slc1a7 |
T |
C |
4: 107,867,497 (GRCm39) |
|
probably benign |
Het |
Slc35e2 |
T |
A |
4: 155,696,171 (GRCm39) |
M186K |
possibly damaging |
Het |
Slc49a4 |
T |
C |
16: 35,550,676 (GRCm39) |
T308A |
probably benign |
Het |
Snx6 |
G |
T |
12: 54,817,549 (GRCm39) |
S116* |
probably null |
Het |
Sptan1 |
T |
C |
2: 29,884,379 (GRCm39) |
|
probably null |
Het |
Sucla2 |
T |
A |
14: 73,830,109 (GRCm39) |
M382K |
probably damaging |
Het |
Susd5 |
T |
C |
9: 113,886,659 (GRCm39) |
L16P |
possibly damaging |
Het |
Tmem260 |
G |
A |
14: 48,724,258 (GRCm39) |
A369T |
possibly damaging |
Het |
Tmprss6 |
A |
G |
15: 78,336,722 (GRCm39) |
Y393H |
probably damaging |
Het |
Tnrc6c |
A |
T |
11: 117,613,345 (GRCm39) |
Q501L |
probably damaging |
Het |
Trim17 |
A |
G |
11: 58,856,369 (GRCm39) |
Y142C |
probably damaging |
Het |
Trim65 |
T |
C |
11: 116,019,108 (GRCm39) |
R144G |
probably damaging |
Het |
Trpm1 |
A |
G |
7: 63,873,547 (GRCm39) |
T601A |
probably benign |
Het |
Ttn |
A |
T |
2: 76,564,688 (GRCm39) |
V28483E |
probably damaging |
Het |
Ube2l3 |
T |
C |
16: 17,019,340 (GRCm39) |
|
probably null |
Het |
Ube2l3 |
G |
T |
16: 17,019,336 (GRCm39) |
|
probably benign |
Het |
Yme1l1 |
T |
C |
2: 23,085,318 (GRCm39) |
|
probably benign |
Het |
Zfat |
A |
G |
15: 68,051,806 (GRCm39) |
S663P |
probably benign |
Het |
Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
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 |
|
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 |
|
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'- GTCTACTGTGTCTGCAGAGG -3'
(R):5'- AGTCAGGTTTGGGCCTACTG -3'
Sequencing Primer
(F):5'- CTACTGTGTCTGCAGAGGTGAACTC -3'
(R):5'- TTTGGGCCTACTGGGAGAGAAC -3'
|
Posted On |
2017-03-31 |