Incidental Mutation 'R6954:Pprc1'
ID |
541398 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pprc1
|
Ensembl Gene |
ENSMUSG00000055491 |
Gene Name |
peroxisome proliferative activated receptor, gamma, coactivator-related 1 |
Synonyms |
|
MMRRC Submission |
045066-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6954 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
46044955-46061348 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 46052872 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 797
(S797P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096990
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062322]
[ENSMUST00000099392]
[ENSMUST00000111899]
[ENSMUST00000126127]
[ENSMUST00000135327]
[ENSMUST00000147640]
[ENSMUST00000150158]
|
AlphaFold |
Q6NZN1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000062322
AA Change: S801P
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000079389 Gene: ENSMUSG00000055491 AA Change: S801P
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 damaging
Transcript: ENSMUST00000099392
AA Change: S797P
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000096990 Gene: ENSMUSG00000055491 AA Change: S797P
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: S800P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000107530 Gene: ENSMUSG00000055491 AA Change: S800P
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 |
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.5%
|
Validation Efficiency |
98% (57/58) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930451I11Rik |
A |
T |
7: 126,429,809 (GRCm39) |
|
probably null |
Het |
Alox5 |
A |
C |
6: 116,397,241 (GRCm39) |
Y314* |
probably null |
Het |
Ap4e1 |
T |
C |
2: 126,906,871 (GRCm39) |
S1044P |
probably benign |
Het |
Ash2l |
A |
G |
8: 26,312,796 (GRCm39) |
V391A |
possibly damaging |
Het |
B4galnt4 |
A |
G |
7: 140,647,145 (GRCm39) |
T326A |
probably benign |
Het |
Ccm2 |
T |
A |
11: 6,544,239 (GRCm39) |
I345N |
probably damaging |
Het |
Cntnap3 |
G |
A |
13: 64,896,373 (GRCm39) |
H1034Y |
probably benign |
Het |
Cpsf1 |
A |
G |
15: 76,483,696 (GRCm39) |
L849S |
probably damaging |
Het |
Ctrb1 |
A |
G |
8: 112,413,296 (GRCm39) |
S239P |
probably damaging |
Het |
Dennd1b |
T |
A |
1: 139,096,683 (GRCm39) |
|
probably benign |
Het |
Dnah17 |
A |
G |
11: 117,957,258 (GRCm39) |
I2773T |
probably damaging |
Het |
Eif2b2 |
T |
A |
12: 85,272,817 (GRCm39) |
F267L |
probably damaging |
Het |
Fcrl2 |
A |
G |
3: 87,170,983 (GRCm39) |
|
probably benign |
Het |
Furin |
G |
T |
7: 80,046,712 (GRCm39) |
D181E |
possibly damaging |
Het |
Gm29106 |
T |
A |
1: 118,128,317 (GRCm39) |
C670S |
probably damaging |
Het |
Gm6309 |
A |
T |
5: 146,105,300 (GRCm39) |
D204E |
possibly damaging |
Het |
Hsf2 |
T |
A |
10: 57,380,739 (GRCm39) |
I191N |
probably damaging |
Het |
Hspa12a |
T |
C |
19: 58,788,124 (GRCm39) |
D566G |
probably benign |
Het |
Igf1 |
G |
C |
10: 87,700,722 (GRCm39) |
V49L |
probably damaging |
Het |
Igfbpl1 |
C |
T |
4: 45,826,663 (GRCm39) |
C44Y |
probably damaging |
Het |
Letm1 |
G |
A |
5: 33,939,851 (GRCm39) |
R16C |
probably benign |
Het |
Lypd8l |
T |
A |
11: 58,499,314 (GRCm39) |
Y168F |
probably benign |
Het |
Marf1 |
A |
G |
16: 13,956,384 (GRCm39) |
V819A |
probably damaging |
Het |
Mfsd4b4 |
A |
T |
10: 39,767,948 (GRCm39) |
S428T |
probably benign |
Het |
Myo1d |
T |
C |
11: 80,565,783 (GRCm39) |
I347M |
probably benign |
Het |
Myo9b |
A |
G |
8: 71,743,463 (GRCm39) |
I175V |
probably damaging |
Het |
Naip5 |
A |
T |
13: 100,359,922 (GRCm39) |
V438E |
probably damaging |
Het |
Nup205 |
T |
A |
6: 35,185,044 (GRCm39) |
V768E |
possibly damaging |
Het |
Or4k6 |
A |
T |
14: 50,475,567 (GRCm39) |
Y258* |
probably null |
Het |
Or9g4b |
T |
A |
2: 85,616,726 (GRCm39) |
Y290* |
probably null |
Het |
Pcdh15 |
C |
T |
10: 74,481,821 (GRCm39) |
H1651Y |
possibly damaging |
Het |
Pdgfra |
A |
T |
5: 75,334,055 (GRCm39) |
Q376L |
possibly damaging |
Het |
Pign |
T |
C |
1: 105,481,622 (GRCm39) |
I791M |
probably benign |
Het |
Pik3c2b |
T |
G |
1: 132,994,041 (GRCm39) |
S2A |
possibly damaging |
Het |
Pip5k1a |
A |
T |
3: 94,975,558 (GRCm39) |
I304K |
probably damaging |
Het |
Pkdrej |
A |
T |
15: 85,702,054 (GRCm39) |
L1294* |
probably null |
Het |
Prob1 |
A |
G |
18: 35,787,321 (GRCm39) |
V311A |
probably benign |
Het |
Prune2 |
C |
A |
19: 16,977,385 (GRCm39) |
T40K |
probably damaging |
Het |
Rif1 |
T |
G |
2: 52,002,703 (GRCm39) |
D2052E |
probably benign |
Het |
Sall1 |
A |
G |
8: 89,759,519 (GRCm39) |
V195A |
probably damaging |
Het |
Scfd1 |
T |
C |
12: 51,474,729 (GRCm39) |
|
probably null |
Het |
Sidt2 |
A |
T |
9: 45,864,148 (GRCm39) |
N123K |
probably benign |
Het |
Slc22a6 |
G |
A |
19: 8,599,460 (GRCm39) |
A320T |
probably benign |
Het |
Slc25a10 |
A |
G |
11: 120,388,973 (GRCm39) |
H279R |
probably benign |
Het |
Slc35b4 |
A |
G |
6: 34,135,556 (GRCm39) |
V252A |
probably benign |
Het |
Slc46a3 |
T |
C |
5: 147,823,150 (GRCm39) |
T231A |
probably benign |
Het |
Stxbp1 |
T |
A |
2: 32,691,905 (GRCm39) |
H429L |
probably damaging |
Het |
Tas2r134 |
C |
T |
2: 51,517,782 (GRCm39) |
T87I |
probably benign |
Het |
Tcstv6 |
A |
G |
13: 120,307,666 (GRCm39) |
D20G |
possibly damaging |
Het |
Tdpoz2 |
A |
T |
3: 93,559,582 (GRCm39) |
L130H |
probably damaging |
Het |
Tmem69 |
T |
C |
4: 116,411,921 (GRCm39) |
|
probably null |
Het |
Tmppe |
G |
A |
9: 114,234,591 (GRCm39) |
V297I |
probably benign |
Het |
Ung |
G |
T |
5: 114,269,398 (GRCm39) |
A37S |
probably benign |
Het |
Vdac1 |
T |
C |
11: 52,277,200 (GRCm39) |
Y237H |
probably damaging |
Het |
Vgll4 |
T |
C |
6: 114,898,328 (GRCm39) |
Y11C |
probably damaging |
Het |
Vmn1r24 |
A |
G |
6: 57,933,437 (GRCm39) |
I27T |
probably benign |
Het |
Zfp280b |
T |
A |
10: 75,875,522 (GRCm39) |
M467K |
probably benign |
Het |
Zkscan4 |
A |
G |
13: 21,668,535 (GRCm39) |
I329V |
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 |
|
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 |
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'- AGACAGGAATTCTCAGCCCC -3'
(R):5'- TAACAAGACCAGGGTGGCAC -3'
Sequencing Primer
(F):5'- AGGAATTCTCAGCCCCCAGTTG -3'
(R):5'- TGTCTCATTGATACTGGAAGTCC -3'
|
Posted On |
2018-11-28 |