Incidental Mutation 'R7632:Pprc1'
ID |
589730 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pprc1
|
Ensembl Gene |
ENSMUSG00000055491 |
Gene Name |
peroxisome proliferative activated receptor, gamma, coactivator-related 1 |
Synonyms |
|
MMRRC Submission |
045720-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7632 (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 A
at 46060721 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1595
(D1595E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079389
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062322]
[ENSMUST00000099392]
[ENSMUST00000111899]
[ENSMUST00000165017]
[ENSMUST00000223728]
[ENSMUST00000223741]
[ENSMUST00000224490]
[ENSMUST00000225780]
|
AlphaFold |
Q6NZN1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000062322
AA Change: D1595E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000079389 Gene: ENSMUSG00000055491 AA Change: D1595E
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 damaging
Transcript: ENSMUST00000111899
AA Change: D1593E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107530 Gene: ENSMUSG00000055491 AA Change: D1593E
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: 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: ENSMUST00000223683
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223728
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223741
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224490
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225780
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
95% (63/66) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap2a2 |
A |
G |
7: 141,211,236 (GRCm39) |
D924G |
probably benign |
Het |
Armh1 |
C |
A |
4: 117,070,938 (GRCm39) |
A396S |
probably benign |
Het |
Atrnl1 |
A |
G |
19: 57,618,738 (GRCm39) |
D152G |
probably damaging |
Het |
B3gnt8 |
A |
G |
7: 25,327,860 (GRCm39) |
I97V |
possibly damaging |
Het |
Bach1 |
A |
G |
16: 87,517,031 (GRCm39) |
D524G |
probably benign |
Het |
Caprin2 |
T |
C |
6: 148,784,954 (GRCm39) |
S107G |
probably damaging |
Het |
Ccnb1 |
A |
G |
13: 100,918,209 (GRCm39) |
I207T |
probably benign |
Het |
Cdh11 |
T |
C |
8: 103,400,515 (GRCm39) |
D151G |
probably damaging |
Het |
Cdh9 |
A |
G |
15: 16,851,115 (GRCm39) |
|
probably null |
Het |
Cep83 |
A |
T |
10: 94,586,502 (GRCm39) |
R433W |
probably damaging |
Het |
Cspg4b |
C |
A |
13: 113,457,420 (GRCm39) |
S1155R |
|
Het |
D3Ertd751e |
A |
G |
3: 41,708,163 (GRCm39) |
E100G |
probably benign |
Het |
Dchs2 |
C |
T |
3: 83,255,357 (GRCm39) |
A2351V |
probably benign |
Het |
Dhx40 |
T |
C |
11: 86,690,263 (GRCm39) |
T253A |
probably benign |
Het |
Dqx1 |
A |
G |
6: 83,036,680 (GRCm39) |
D228G |
probably benign |
Het |
Dync1h1 |
T |
C |
12: 110,627,327 (GRCm39) |
M4002T |
probably benign |
Het |
Flcn |
C |
T |
11: 59,686,625 (GRCm39) |
W376* |
probably null |
Het |
Flnc |
A |
T |
6: 29,446,984 (GRCm39) |
Y1037F |
probably damaging |
Het |
Fut11 |
T |
A |
14: 20,745,096 (GRCm39) |
V9E |
probably benign |
Het |
Fv1 |
T |
A |
4: 147,954,392 (GRCm39) |
N319K |
possibly damaging |
Het |
Ghrhr |
G |
T |
6: 55,361,727 (GRCm39) |
G298V |
probably benign |
Het |
Gm5800 |
T |
A |
14: 51,953,905 (GRCm39) |
|
probably null |
Het |
Grin2b |
A |
G |
6: 135,709,553 (GRCm39) |
M1331T |
probably benign |
Het |
Hyou1 |
A |
G |
9: 44,292,433 (GRCm39) |
|
probably null |
Het |
Igkv1-117 |
C |
A |
6: 68,098,792 (GRCm39) |
Q114K |
probably damaging |
Het |
Igkv4-68 |
A |
G |
6: 69,282,048 (GRCm39) |
V41A |
possibly damaging |
Het |
Inpp4b |
A |
G |
8: 82,772,968 (GRCm39) |
N754S |
probably damaging |
Het |
Isl2 |
G |
A |
9: 55,448,440 (GRCm39) |
|
probably null |
Het |
Kat2a |
G |
A |
11: 100,599,422 (GRCm39) |
Q523* |
probably null |
Het |
Lypd3 |
T |
C |
7: 24,337,865 (GRCm39) |
F77S |
possibly damaging |
Het |
Map4k2 |
T |
C |
19: 6,394,084 (GRCm39) |
L297P |
probably benign |
Het |
Naca |
T |
C |
10: 127,876,375 (GRCm39) |
V469A |
unknown |
Het |
Notch3 |
C |
T |
17: 32,377,480 (GRCm39) |
V199I |
probably benign |
Het |
Or4k44 |
T |
C |
2: 111,368,521 (GRCm39) |
I38V |
possibly damaging |
Het |
Or5b119 |
T |
C |
19: 13,456,795 (GRCm39) |
M256V |
possibly damaging |
Het |
Pabpc1 |
TGTACCTGTTGCATGGTA |
TGTA |
15: 36,598,212 (GRCm39) |
|
probably null |
Het |
Pcdhb8 |
A |
T |
18: 37,488,648 (GRCm39) |
I109L |
probably benign |
Het |
Pde2a |
A |
G |
7: 101,133,801 (GRCm39) |
D104G |
possibly damaging |
Het |
Phip |
A |
G |
9: 82,785,243 (GRCm39) |
V824A |
probably benign |
Het |
Plekhg4 |
T |
C |
8: 106,106,782 (GRCm39) |
Y853H |
probably damaging |
Het |
Plod1 |
T |
C |
4: 148,011,481 (GRCm39) |
K248R |
probably damaging |
Het |
Plxnd1 |
A |
T |
6: 115,953,600 (GRCm39) |
Y656N |
probably benign |
Het |
Pogz |
G |
A |
3: 94,763,517 (GRCm39) |
|
probably null |
Het |
Ppp1r3e |
T |
A |
14: 55,114,526 (GRCm39) |
S79C |
probably damaging |
Het |
Ptprq |
A |
G |
10: 107,547,783 (GRCm39) |
V205A |
probably benign |
Het |
Rad51ap2 |
T |
C |
12: 11,507,116 (GRCm39) |
V346A |
possibly damaging |
Het |
Rgs12 |
T |
A |
5: 35,122,934 (GRCm39) |
L239H |
probably damaging |
Het |
Rrp8 |
T |
C |
7: 105,385,727 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
GGCG |
GGCGACCGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Scaf1 |
A |
T |
7: 44,656,503 (GRCm39) |
V792D |
unknown |
Het |
Scrn2 |
G |
T |
11: 96,923,968 (GRCm39) |
R284L |
possibly damaging |
Het |
Sgsm1 |
T |
A |
5: 113,423,948 (GRCm39) |
Q461L |
possibly damaging |
Het |
Slc18b1 |
A |
G |
10: 23,702,080 (GRCm39) |
T434A |
probably benign |
Het |
Sltm |
C |
G |
9: 70,493,955 (GRCm39) |
P802R |
possibly damaging |
Het |
Smc4 |
CTA |
CTATA |
3: 68,925,400 (GRCm39) |
|
probably benign |
Het |
Snx33 |
A |
T |
9: 56,833,702 (GRCm39) |
D122E |
probably damaging |
Het |
Srebf2 |
G |
T |
15: 82,069,497 (GRCm39) |
V680L |
probably benign |
Het |
Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm39) |
|
probably benign |
Het |
Tecpr1 |
C |
T |
5: 144,155,544 (GRCm39) |
V5M |
probably benign |
Het |
Tfg |
A |
G |
16: 56,532,997 (GRCm39) |
V54A |
possibly damaging |
Het |
Tmem237 |
C |
T |
1: 59,156,060 (GRCm39) |
C30Y |
probably benign |
Het |
Tmem245 |
T |
C |
4: 56,916,787 (GRCm39) |
K444R |
probably benign |
Het |
Trim25 |
T |
G |
11: 88,906,602 (GRCm39) |
L446R |
probably null |
Het |
Usp37 |
T |
C |
1: 74,507,533 (GRCm39) |
T495A |
probably benign |
Het |
Vmn1r94 |
T |
G |
7: 19,901,696 (GRCm39) |
T203P |
probably damaging |
Het |
Ywhah |
T |
A |
5: 33,184,010 (GRCm39) |
M71K |
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 |
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 |
|
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'- ATCAGAAGGTTGGCCATTGGG -3'
(R):5'- ACCACACTTCTCAAATGGGAGC -3'
Sequencing Primer
(F):5'- GGAAATGAGAAGAAACACCTCTGTGC -3'
(R):5'- CACTTCTCAAATGGGAGCCATGG -3'
|
Posted On |
2019-10-24 |