Incidental Mutation 'R1439:Pprc1'
| ID |
160887 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pprc1
|
| Ensembl Gene |
ENSMUSG00000055491 |
| Gene Name |
peroxisome proliferative activated receptor, gamma, coactivator-related 1 |
| Synonyms |
|
| MMRRC Submission |
039494-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1439 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
46044955-46061348 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 46052175 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 564
(N564K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096990
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062322]
[ENSMUST00000099392]
[ENSMUST00000111899]
[ENSMUST00000126127]
[ENSMUST00000150158]
[ENSMUST00000135327]
[ENSMUST00000147640]
|
| AlphaFold |
Q6NZN1 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000062322
AA Change: N568K
|
| SMART Domains |
Protein: ENSMUSP00000079389
Gene: ENSMUSG00000055491
AA Change: N568K
| 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 |
possibly damaging
Transcript: ENSMUST00000099392
AA Change: N564K
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000096990
Gene: ENSMUSG00000055491
AA Change: N564K
| 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: N567K
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000107530
Gene: ENSMUSG00000055491
AA Change: N567K
| 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: 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: ENSMUST00000135327
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147640
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.4%
- 20x: 86.3%
|
| Validation Efficiency |
100% (72/72) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap1 |
A |
G |
1: 89,770,908 (GRCm39) |
N499S |
probably damaging |
Het |
| AI661453 |
C |
A |
17: 47,777,587 (GRCm39) |
|
probably benign |
Het |
| Akap1 |
C |
A |
11: 88,735,577 (GRCm39) |
G362* |
probably null |
Het |
| Alkbh1 |
A |
G |
12: 87,475,915 (GRCm39) |
V289A |
probably damaging |
Het |
| Bnc2 |
C |
T |
4: 84,194,305 (GRCm39) |
E1035K |
probably benign |
Het |
| C1s2 |
T |
A |
6: 124,607,126 (GRCm39) |
|
probably benign |
Het |
| Cabin1 |
A |
G |
10: 75,492,640 (GRCm39) |
I1885T |
probably damaging |
Het |
| Col22a1 |
A |
G |
15: 71,824,226 (GRCm39) |
|
probably benign |
Het |
| Cpne4 |
A |
T |
9: 104,866,831 (GRCm39) |
T248S |
probably damaging |
Het |
| Cracd |
T |
C |
5: 76,988,757 (GRCm39) |
V36A |
probably damaging |
Het |
| Cubn |
T |
C |
2: 13,292,379 (GRCm39) |
N3268S |
probably damaging |
Het |
| Ddx10 |
T |
A |
9: 53,151,787 (GRCm39) |
K79N |
probably damaging |
Het |
| Dennd1a |
A |
C |
2: 37,933,412 (GRCm39) |
L131R |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,764,958 (GRCm39) |
Y3862C |
probably benign |
Het |
| Eif3e |
A |
G |
15: 43,141,824 (GRCm39) |
|
probably benign |
Het |
| Emsy |
T |
C |
7: 98,250,048 (GRCm39) |
|
probably benign |
Het |
| Ep400 |
A |
T |
5: 110,833,344 (GRCm39) |
D1959E |
unknown |
Het |
| Fpr-rs7 |
A |
G |
17: 20,333,869 (GRCm39) |
I207T |
probably benign |
Het |
| Fubp3 |
C |
A |
2: 31,488,563 (GRCm39) |
L140I |
probably damaging |
Het |
| Gas2l2 |
T |
C |
11: 83,318,298 (GRCm39) |
D137G |
probably damaging |
Het |
| Git1 |
G |
T |
11: 77,397,244 (GRCm39) |
R699L |
possibly damaging |
Het |
| Gnao1 |
T |
A |
8: 94,690,065 (GRCm39) |
F27L |
probably benign |
Het |
| Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
| Itga6 |
T |
G |
2: 71,664,378 (GRCm39) |
Y505D |
probably damaging |
Het |
| Itgad |
A |
T |
7: 127,782,178 (GRCm39) |
T205S |
probably benign |
Het |
| Jakmip3 |
A |
T |
7: 138,631,375 (GRCm39) |
Y574F |
probably benign |
Het |
| Laptm5 |
G |
T |
4: 130,653,520 (GRCm39) |
|
probably benign |
Het |
| Mlana |
A |
T |
19: 29,684,252 (GRCm39) |
R71S |
probably benign |
Het |
| Mroh2a |
G |
C |
1: 88,185,524 (GRCm39) |
E1510D |
probably damaging |
Het |
| Mus81 |
G |
C |
19: 5,535,145 (GRCm39) |
R295G |
probably benign |
Het |
| Ncapd3 |
T |
A |
9: 26,998,862 (GRCm39) |
|
probably null |
Het |
| Nectin1 |
A |
G |
9: 43,703,396 (GRCm39) |
E218G |
possibly damaging |
Het |
| Nectin3 |
A |
T |
16: 46,268,757 (GRCm39) |
Y548* |
probably null |
Het |
| Nif3l1 |
T |
C |
1: 58,487,102 (GRCm39) |
F96S |
probably damaging |
Het |
| Ntrk1 |
A |
G |
3: 87,696,918 (GRCm39) |
|
probably null |
Het |
| Obsl1 |
C |
A |
1: 75,463,428 (GRCm39) |
E1755* |
probably null |
Het |
| Or4p23 |
T |
C |
2: 88,577,178 (GRCm39) |
E18G |
possibly damaging |
Het |
| Osbpl9 |
T |
C |
4: 108,958,353 (GRCm39) |
D74G |
probably damaging |
Het |
| Osgin1 |
T |
A |
8: 120,169,852 (GRCm39) |
|
probably null |
Het |
| Otogl |
A |
G |
10: 107,615,113 (GRCm39) |
Y1931H |
probably benign |
Het |
| Pmepa1 |
A |
G |
2: 173,069,874 (GRCm39) |
I227T |
probably benign |
Het |
| Prkaa1 |
T |
C |
15: 5,194,225 (GRCm39) |
F92S |
probably damaging |
Het |
| Ptprd |
A |
G |
4: 75,984,437 (GRCm39) |
F811L |
probably damaging |
Het |
| Rad54b |
A |
G |
4: 11,606,152 (GRCm39) |
K520R |
possibly damaging |
Het |
| Rbfox1 |
A |
G |
16: 7,148,297 (GRCm39) |
T269A |
possibly damaging |
Het |
| Rfwd3 |
T |
C |
8: 112,004,920 (GRCm39) |
Y554C |
probably damaging |
Het |
| Rfx2 |
A |
T |
17: 57,094,720 (GRCm39) |
V208E |
probably damaging |
Het |
| Rgs22 |
G |
T |
15: 36,025,939 (GRCm39) |
|
probably benign |
Het |
| Rrbp1 |
A |
G |
2: 143,797,032 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
C |
T |
13: 11,729,389 (GRCm39) |
|
probably benign |
Het |
| Sbno1 |
A |
G |
5: 124,522,523 (GRCm39) |
|
probably benign |
Het |
| Secisbp2 |
T |
C |
13: 51,833,759 (GRCm39) |
|
probably benign |
Het |
| Sgsm2 |
C |
A |
11: 74,759,964 (GRCm39) |
R58L |
probably benign |
Het |
| Slc25a36 |
A |
C |
9: 96,975,126 (GRCm39) |
|
probably benign |
Het |
| Spink4 |
A |
G |
4: 40,929,121 (GRCm39) |
T49A |
possibly damaging |
Het |
| Steap3 |
A |
T |
1: 120,155,550 (GRCm39) |
F470I |
probably damaging |
Het |
| Stk10 |
A |
G |
11: 32,567,919 (GRCm39) |
Q907R |
probably damaging |
Het |
| Tdrd5 |
A |
G |
1: 156,105,057 (GRCm39) |
V446A |
probably damaging |
Het |
| Tmem117 |
G |
A |
15: 94,992,478 (GRCm39) |
M379I |
probably benign |
Het |
| Trappc12 |
A |
G |
12: 28,797,160 (GRCm39) |
L124P |
possibly damaging |
Het |
| Trim9 |
G |
A |
12: 70,297,867 (GRCm39) |
H613Y |
probably damaging |
Het |
| Trio |
A |
G |
15: 27,898,000 (GRCm39) |
W371R |
probably damaging |
Het |
| Ulk4 |
G |
C |
9: 121,095,324 (GRCm39) |
H110D |
possibly damaging |
Het |
| Upb1 |
T |
C |
10: 75,275,776 (GRCm39) |
V387A |
probably benign |
Het |
| Utrn |
A |
T |
10: 12,619,793 (GRCm39) |
I284N |
possibly damaging |
Het |
| Vmn2r111 |
C |
A |
17: 22,790,097 (GRCm39) |
W303L |
probably benign |
Het |
| Vmn2r15 |
G |
T |
5: 109,441,953 (GRCm39) |
P160Q |
probably damaging |
Het |
| Wdtc1 |
A |
G |
4: 133,029,118 (GRCm39) |
S323P |
probably benign |
Het |
| Zfp846 |
T |
A |
9: 20,505,393 (GRCm39) |
C418S |
possibly damaging |
Het |
| Zfyve26 |
G |
T |
12: 79,298,937 (GRCm39) |
P441Q |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGGCAGGCAGTTCACAGAAAC -3'
(R):5'- AGGGTCATTTGGAACAGGGTCAGC -3'
Sequencing Primer
(F):5'- TTCAGAGAGAGGCTGCTGC -3'
(R):5'- CACTGTGTTTGCTAGGACATCAG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation