Incidental Mutation 'IGL01449:Pprc1'
ID 84566
Institutional Source Australian Phenomics Network (link to record)
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 # IGL01449
Quality Score
Status
Chromosome 19
Chromosomal Location 46044955-46061348 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 46053671 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120475 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062322] [ENSMUST00000099392] [ENSMUST00000111899] [ENSMUST00000126127] [ENSMUST00000147640] [ENSMUST00000135327] [ENSMUST00000150158]
AlphaFold Q6NZN1
Predicted Effect unknown
Transcript: ENSMUST00000062322
AA Change: P1067L
SMART Domains Protein: ENSMUSP00000079389
Gene: ENSMUSG00000055491
AA Change: P1067L

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: P1063L
SMART Domains Protein: ENSMUSP00000096990
Gene: ENSMUSG00000055491
AA Change: P1063L

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: P1066L
SMART Domains Protein: ENSMUSP00000107530
Gene: ENSMUSG00000055491
AA Change: P1066L

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: ENSMUST00000134015
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153111
Predicted Effect probably benign
Transcript: ENSMUST00000147640
Predicted Effect probably benign
Transcript: ENSMUST00000135327
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
Validation Efficiency
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik A T 8: 73,198,693 (GRCm39) L33F probably benign Het
Actr8 T C 14: 29,712,927 (GRCm39) probably null Het
Aldh16a1 C A 7: 44,791,391 (GRCm39) A105S probably damaging Het
Angpt2 T C 8: 18,760,641 (GRCm39) T154A probably benign Het
BC051665 A G 13: 60,930,518 (GRCm39) V278A probably damaging Het
Cap1 T C 4: 122,753,980 (GRCm39) T458A probably damaging Het
Clcn3 A T 8: 61,387,632 (GRCm39) S179T probably damaging Het
Cyp2a22 T C 7: 26,632,978 (GRCm39) D408G probably benign Het
Fam217b T A 2: 178,062,943 (GRCm39) S302R probably damaging Het
Fcho2 A T 13: 98,926,315 (GRCm39) D89E probably benign Het
Fnip1 C T 11: 54,390,334 (GRCm39) R434C probably damaging Het
Gga3 G A 11: 115,479,928 (GRCm39) T261M probably damaging Het
Gm21985 T C 2: 112,169,741 (GRCm39) F292L probably damaging Het
Gm43638 A T 5: 87,634,074 (GRCm39) S178T possibly damaging Het
Igkv10-95 G A 6: 68,657,748 (GRCm39) G68E probably damaging Het
Katnip T A 7: 125,469,857 (GRCm39) V1442D probably damaging Het
Lpcat2 G A 8: 93,597,775 (GRCm39) R180Q possibly damaging Het
Muc6 C T 7: 141,218,527 (GRCm39) A1984T possibly damaging Het
Npy4r T A 14: 33,868,322 (GRCm39) Y322F probably damaging Het
Nwd2 T A 5: 63,962,937 (GRCm39) H840Q probably damaging Het
Or7g26 G A 9: 19,230,529 (GRCm39) G233D probably damaging Het
Osbpl2 G T 2: 179,786,987 (GRCm39) probably benign Het
Pclo T A 5: 14,728,530 (GRCm39) probably benign Het
Pold4 T C 19: 4,282,921 (GRCm39) probably benign Het
Ppp1r16a A G 15: 76,578,494 (GRCm39) probably benign Het
Prkcg A G 7: 3,368,135 (GRCm39) D343G probably benign Het
Scaf11 A C 15: 96,317,007 (GRCm39) S852R probably benign Het
Slc31a2 C T 4: 62,210,933 (GRCm39) T22I probably damaging Het
Sox30 T A 11: 45,872,169 (GRCm39) D341E probably damaging Het
Tle4 A G 19: 14,442,704 (GRCm39) S339P probably benign Het
Tsg101 A T 7: 46,558,673 (GRCm39) Y78N probably damaging Het
Ttc1 T A 11: 43,629,630 (GRCm39) S179C probably damaging Het
Txnrd3 T A 6: 89,631,129 (GRCm39) S142T probably benign Het
Ubr4 C A 4: 139,140,047 (GRCm39) A1210E probably damaging Het
Uroc1 C A 6: 90,315,635 (GRCm39) P172Q probably damaging Het
Usp12 T C 5: 146,691,250 (GRCm39) D168G probably benign Het
Vmn1r32 T A 6: 66,529,916 (GRCm39) M287L probably benign Het
Vwa8 C T 14: 79,420,428 (GRCm39) Q1710* probably null Het
Wdfy4 T A 14: 32,825,994 (GRCm39) Q1219L probably damaging Het
Zbtb17 A G 4: 141,190,616 (GRCm39) T145A probably benign Het
Zfp697 T C 3: 98,334,846 (GRCm39) C204R 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
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
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
Posted On 2013-11-11