Incidental Mutation 'R5975:Pprc1'
ID 471734
Institutional Source Beutler Lab
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) question?
Stock # R5975 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 46044955-46061348 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to G at 46053809 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120475 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062322] [ENSMUST00000099392] [ENSMUST00000111899] [ENSMUST00000126127] [ENSMUST00000135327] [ENSMUST00000147640] [ENSMUST00000150158]
AlphaFold Q6NZN1
Predicted Effect unknown
Transcript: ENSMUST00000062322
AA Change: V1113G
SMART Domains Protein: ENSMUSP00000079389
Gene: ENSMUSG00000055491
AA Change: V1113G

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000099392
AA Change: V1109G
SMART Domains Protein: ENSMUSP00000096990
Gene: ENSMUSG00000055491
AA Change: V1109G

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000111899
AA Change: V1112G
SMART Domains Protein: ENSMUSP00000107530
Gene: ENSMUSG00000055491
AA Change: V1112G

DomainStartEndE-ValueType
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: ENSMUST00000147640
Predicted Effect probably benign
Transcript: ENSMUST00000150158
SMART Domains Protein: ENSMUSP00000120475
Gene: ENSMUSG00000055491

DomainStartEndE-ValueType
low complexity region 70 86 N/A INTRINSIC
low complexity region 102 128 N/A INTRINSIC
Meta Mutation Damage Score 0.1510 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 98% (80/82)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430038I01Rik T C 7: 136,989,021 (GRCm39) probably benign Het
Abhd14a A T 9: 106,321,150 (GRCm39) probably null Het
Actn2 T C 13: 12,355,378 (GRCm39) N2D probably benign Het
Adcy9 T C 16: 4,129,431 (GRCm39) E722G probably damaging Het
Alox12 C A 11: 70,133,609 (GRCm39) V572L possibly damaging Het
Ankrd11 T C 8: 123,616,488 (GRCm39) I2434V possibly damaging Het
Anks1 T A 17: 28,210,421 (GRCm39) probably null Het
Bltp1 C T 3: 37,023,370 (GRCm39) T2233I possibly damaging Het
Bpifa3 T A 2: 153,978,241 (GRCm39) S148T probably damaging Het
Bptf C T 11: 106,926,690 (GRCm39) probably benign Het
Cabin1 A T 10: 75,493,673 (GRCm39) L1655H probably damaging Het
Ccdc13 G T 9: 121,656,301 (GRCm39) Q171K probably benign Het
Ccdc33 T A 9: 58,024,761 (GRCm39) Q155L possibly damaging Het
Cckbr G A 7: 105,119,826 (GRCm39) G280E probably benign Het
Cdk11b G A 4: 155,732,697 (GRCm39) probably benign Het
Celsr1 G T 15: 85,803,239 (GRCm39) probably null Het
Cenpj A T 14: 56,801,523 (GRCm39) I150N possibly damaging Het
Cep135 C A 5: 76,788,737 (GRCm39) A1110E possibly damaging Het
Chit1 C A 1: 134,074,364 (GRCm39) H224N probably damaging Het
Cul5 T C 9: 53,534,093 (GRCm39) R680G probably damaging Het
Dhx58 C A 11: 100,593,035 (GRCm39) R224L probably damaging Het
Dlx1 C A 2: 71,361,353 (GRCm39) N122K probably damaging Het
Dnah5 A C 15: 28,234,428 (GRCm39) D279A probably damaging Het
Dnai4 G A 4: 102,906,786 (GRCm39) P676S probably benign Het
Efcab3 A G 11: 104,578,375 (GRCm39) probably benign Het
Enpp3 A G 10: 24,650,740 (GRCm39) W799R probably benign Het
Ercc5 A G 1: 44,212,566 (GRCm39) T675A probably benign Het
Farsa T A 8: 85,591,061 (GRCm39) probably null Het
Fbxw15 A T 9: 109,384,320 (GRCm39) V397D probably damaging Het
Fcrl5 G A 3: 87,349,410 (GRCm39) V62I probably benign Het
Gart A G 16: 91,421,224 (GRCm39) S815P probably damaging Het
Glrx5 A G 12: 105,006,582 (GRCm39) N111S possibly damaging Het
Gm10845 A G 14: 80,100,614 (GRCm39) noncoding transcript Het
Gm9925 T A 18: 74,198,587 (GRCm39) probably benign Het
Gsdme T C 6: 50,204,339 (GRCm39) N206S probably benign Het
Helz2 T C 2: 180,872,843 (GRCm39) S2459G probably benign Het
Hnrnpul1 A G 7: 25,453,784 (GRCm39) S93P possibly damaging Het
Ints2 A T 11: 86,117,574 (GRCm39) I716N possibly damaging Het
Lmnb2 G A 10: 80,740,962 (GRCm39) Q248* probably null Het
Map3k7cl A G 16: 87,367,209 (GRCm39) I32V probably benign Het
Mfsd4b4 A T 10: 39,768,466 (GRCm39) I255N probably benign Het
Myh6 A G 14: 55,187,965 (GRCm39) I1163T probably benign Het
Nphs1 A T 7: 30,165,540 (GRCm39) T636S possibly damaging Het
Ntsr1 T A 2: 180,142,581 (GRCm39) L124Q probably damaging Het
Obscn C T 11: 59,013,445 (GRCm39) probably null Het
P4ha2 G A 11: 54,017,238 (GRCm39) probably null Het
Pcdha9 T A 18: 37,132,164 (GRCm39) V411D probably benign Het
Pkhd1l1 A T 15: 44,389,384 (GRCm39) I1380F probably damaging Het
Plekha1 T C 7: 130,493,983 (GRCm39) V106A probably benign Het
Plekhm1 A T 11: 103,267,517 (GRCm39) V818E possibly damaging Het
Prb1c A G 6: 132,339,036 (GRCm39) S61P unknown Het
Prmt9 T C 8: 78,287,647 (GRCm39) probably benign Het
Rab26 T C 17: 24,749,373 (GRCm39) N193D possibly damaging Het
Rnf111 A G 9: 70,336,862 (GRCm39) S942P probably damaging Het
Scgb2b18 T C 7: 32,872,650 (GRCm39) T52A probably damaging Het
Syt3 C T 7: 44,042,187 (GRCm39) Q349* probably null Het
Tas2r107 T C 6: 131,636,743 (GRCm39) N102S probably benign Het
Tas2r126 T A 6: 42,411,934 (GRCm39) Y156N possibly damaging Het
Tcaf2 A T 6: 42,619,712 (GRCm39) I105N probably benign Het
Tet1 A C 10: 62,715,552 (GRCm39) M81R probably benign Het
Togaram2 T C 17: 72,036,200 (GRCm39) Y897H probably damaging Het
Trerf1 A T 17: 47,625,197 (GRCm39) noncoding transcript Het
Ttn G A 2: 76,591,579 (GRCm39) T12703I probably damaging Het
Unc79 A G 12: 103,091,885 (GRCm39) K1735E possibly damaging Het
Usp54 G A 14: 20,633,419 (GRCm39) T372I possibly damaging Het
Wdr24 T C 17: 26,046,102 (GRCm39) S476P probably benign Het
Zbtb1 T C 12: 76,433,049 (GRCm39) I345T possibly damaging Het
Zcrb1 T A 15: 93,293,496 (GRCm39) I29L probably benign Het
Zfp341 T A 2: 154,472,361 (GRCm39) C315S probably damaging Het
Zfp623 C A 15: 75,820,012 (GRCm39) R323S probably benign Het
Zfp831 T A 2: 174,485,885 (GRCm39) Y187N possibly damaging Het
Other mutations in Pprc1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TGTATCTCCCCAGCCGAAAC -3'
(R):5'- ACCAGAGTGAGTGAACCCAG -3'

Sequencing Primer
(F):5'- AAAGTGTCCACCTTGGTACAGAGTC -3'
(R):5'- AGTGAACCCAGGGAGCTGC -3'
Posted On 2017-03-31