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) question?
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

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 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

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 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

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 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
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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