Incidental Mutation 'R4822:Pprc1'
ID 371262
Institutional Source Beutler Lab
Gene Symbol Pprc1
Ensembl Gene ENSMUSG00000055491
Gene Name peroxisome proliferative activated receptor, gamma, coactivator-related 1
Synonyms
MMRRC Submission 042438-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4822 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 46044955-46061348 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 46059795 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153545 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062322] [ENSMUST00000099392] [ENSMUST00000111899] [ENSMUST00000223728] [ENSMUST00000224490] [ENSMUST00000225780] [ENSMUST00000165017] [ENSMUST00000223741]
AlphaFold Q6NZN1
Predicted Effect unknown
Transcript: ENSMUST00000062322
AA Change: S1481P
SMART Domains Protein: ENSMUSP00000079389
Gene: ENSMUSG00000055491
AA Change: S1481P

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 benign
Transcript: ENSMUST00000099392
SMART Domains Protein: ENSMUSP00000096990
Gene: ENSMUSG00000055491

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: S1479P
SMART Domains Protein: ENSMUSP00000107530
Gene: ENSMUSG00000055491
AA Change: S1479P

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 noncoding transcript
Transcript: ENSMUST00000133101
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146882
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153111
Predicted Effect probably benign
Transcript: ENSMUST00000223728
Predicted Effect probably benign
Transcript: ENSMUST00000223683
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224434
Predicted Effect probably benign
Transcript: ENSMUST00000224490
Predicted Effect probably benign
Transcript: ENSMUST00000225780
Predicted Effect probably benign
Transcript: ENSMUST00000165017
SMART Domains Protein: ENSMUSP00000128331
Gene: ENSMUSG00000015176

DomainStartEndE-ValueType
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: ENSMUST00000223741
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225758
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency 98% (101/103)
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik C T 14: 70,393,907 (GRCm39) V243I probably benign Het
Acadvl C T 11: 69,902,010 (GRCm39) G485S probably benign Het
Acap3 T A 4: 155,986,908 (GRCm39) probably benign Het
Adamts19 A G 18: 59,023,356 (GRCm39) I250M probably damaging Het
Amacr T A 15: 10,983,496 (GRCm39) I102N probably damaging Het
Apob A G 12: 8,065,741 (GRCm39) T4237A probably benign Het
Bbs10 A G 10: 111,136,995 (GRCm39) K703E probably benign Het
Bicd1 A T 6: 149,420,752 (GRCm39) probably benign Het
Caskin2 T A 11: 115,698,125 (GRCm39) E49V probably damaging Het
Cemip T A 7: 83,622,449 (GRCm39) I577F probably benign Het
Chrnb1 T C 11: 69,686,501 (GRCm39) S40G possibly damaging Het
Ctif C T 18: 75,654,632 (GRCm39) C298Y probably benign Het
Cul9 A C 17: 46,840,977 (GRCm39) H764Q probably benign Het
Cwf19l2 T A 9: 3,458,839 (GRCm39) C763S probably damaging Het
Dhx57 A T 17: 80,549,596 (GRCm39) probably null Het
Dnaaf10 T A 11: 17,177,165 (GRCm39) N174K probably damaging Het
Dnhd1 G A 7: 105,353,171 (GRCm39) D2775N probably benign Het
Enpp1 A T 10: 24,537,833 (GRCm39) M384K possibly damaging Het
Fat2 T C 11: 55,202,144 (GRCm39) N310S probably benign Het
Fbxw7 A T 3: 84,874,814 (GRCm39) Y232F possibly damaging Het
Fcamr T A 1: 130,740,423 (GRCm39) S281T possibly damaging Het
Gm10762 C T 2: 128,809,106 (GRCm39) W81* probably null Het
Gm5592 A G 7: 40,805,314 (GRCm39) probably benign Het
Gm5745 T C 9: 73,082,980 (GRCm39) noncoding transcript Het
Gm6185 G C 1: 161,040,824 (GRCm39) noncoding transcript Het
Hid1 T A 11: 115,246,125 (GRCm39) N382Y probably damaging Het
Hoxa10 A T 6: 52,209,569 (GRCm39) F68I probably damaging Het
Ift88 T A 14: 57,679,326 (GRCm39) probably null Het
Ighg2b A T 12: 113,270,011 (GRCm39) *336R probably null Het
Ighv7-2 A C 12: 113,875,892 (GRCm39) L37R probably damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kcnn3 G C 3: 89,574,596 (GRCm39) V703L possibly damaging Het
Kiz C A 2: 146,732,989 (GRCm39) S388R probably damaging Het
Klhl20 G A 1: 160,921,333 (GRCm39) Q41* probably null Het
Krt31 T C 11: 99,938,610 (GRCm39) I328V possibly damaging Het
Lama4 A T 10: 38,909,049 (GRCm39) I330L probably benign Het
Lipo2 A T 19: 33,723,151 (GRCm39) S213T probably benign Het
Lrsam1 A T 2: 32,816,804 (GRCm39) I723N probably damaging Het
Man2b2 G A 5: 36,972,865 (GRCm39) R550W probably damaging Het
Map4k5 A T 12: 69,888,758 (GRCm39) L224* probably null Het
Mast3 A G 8: 71,233,010 (GRCm39) S1101P probably damaging Het
Mertk A G 2: 128,643,225 (GRCm39) S875G probably benign Het
Mmel1 A G 4: 154,972,354 (GRCm39) M302V probably benign Het
Mrgpra3 T A 7: 47,239,716 (GRCm39) H70L possibly damaging Het
Myh3 T A 11: 66,979,836 (GRCm39) S592T probably benign Het
Nbeal2 T C 9: 110,465,383 (GRCm39) I451V possibly damaging Het
Nup155 T A 15: 8,158,010 (GRCm39) V489D possibly damaging Het
Obscn T A 11: 58,913,159 (GRCm39) T6300S probably benign Het
Oprm1 A G 10: 6,779,036 (GRCm39) I146V probably damaging Het
Or1ad1 T A 11: 50,875,910 (GRCm39) C127* probably null Het
Or1j4 A G 2: 36,740,888 (GRCm39) M277V probably benign Het
Or4k44 G T 2: 111,367,797 (GRCm39) T279K probably damaging Het
Or5ae1 A C 7: 84,565,634 (GRCm39) I216L possibly damaging Het
Otub1 A T 19: 7,181,794 (GRCm39) D27E probably damaging Het
Pik3ca T C 3: 32,492,131 (GRCm39) V243A probably benign Het
Pla2g12b G A 10: 59,252,336 (GRCm39) probably null Het
Plekha8 A G 6: 54,601,546 (GRCm39) D321G probably damaging Het
Prkdc A G 16: 15,468,576 (GRCm39) D129G possibly damaging Het
Rbms3 C T 9: 116,773,441 (GRCm39) probably benign Het
Rictor T A 15: 6,821,161 (GRCm39) V1495D probably benign Het
Rpl31-ps21 T C 5: 21,324,507 (GRCm39) noncoding transcript Het
Ryr3 A T 2: 112,483,090 (GRCm39) I4219N probably damaging Het
Sbf2 G A 7: 109,977,146 (GRCm39) probably benign Het
Scn10a C T 9: 119,467,738 (GRCm39) A801T probably damaging Het
Scn9a T A 2: 66,314,093 (GRCm39) Y1866F possibly damaging Het
Sec1 A C 7: 45,328,727 (GRCm39) Y107D probably damaging Het
Sema6d C T 2: 124,504,214 (GRCm39) T619M possibly damaging Het
Sh2b3 C A 5: 121,966,618 (GRCm39) probably benign Het
Slc2a4 A G 11: 69,837,413 (GRCm39) V44A probably damaging Het
Slc5a12 T C 2: 110,452,085 (GRCm39) I326T possibly damaging Het
Smarca5 T C 8: 81,435,309 (GRCm39) probably null Het
Smarcd2 A G 11: 106,157,357 (GRCm39) probably null Het
Snrpa1 A T 7: 65,719,321 (GRCm39) probably benign Het
Sptbn5 T G 2: 119,898,449 (GRCm39) K470Q probably benign Het
Stard9 T G 2: 120,526,422 (GRCm39) V893G possibly damaging Het
Stx8 T G 11: 67,864,099 (GRCm39) V53G possibly damaging Het
Sv2c A T 13: 96,122,457 (GRCm39) W440R probably damaging Het
Tcstv2a A T 13: 120,725,686 (GRCm39) T117S probably damaging Het
Tmem181a A T 17: 6,330,940 (GRCm39) I67F probably benign Het
Tmprss7 C T 16: 45,483,679 (GRCm39) C565Y probably damaging Het
Trafd1 A T 5: 121,516,561 (GRCm39) L109H probably damaging Het
Trpv4 A G 5: 114,768,083 (GRCm39) I422T possibly damaging Het
Usp24 T A 4: 106,273,244 (GRCm39) Y2210N probably damaging Het
Vmn1r236 A T 17: 21,507,202 (GRCm39) N107Y probably damaging Het
Vmn2r13 A T 5: 109,321,938 (GRCm39) I253K probably damaging Het
Vmn2r2 T A 3: 64,041,960 (GRCm39) I252F probably damaging Het
Vsig8 A G 1: 172,387,205 (GRCm39) D27G probably damaging Het
Wiz A T 17: 32,575,411 (GRCm39) Y908* probably null Het
Wnk1 A T 6: 119,939,399 (GRCm39) S1113T probably benign Het
Zdhhc1 CGGGGG CGGGGGG 8: 106,210,376 (GRCm39) probably null Het
Zfp691 G T 4: 119,027,764 (GRCm39) T156K probably damaging Het
Zfp791 A T 8: 85,837,035 (GRCm39) D276E probably benign 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
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
Predicted Primers PCR Primer
(F):5'- ATGAAGGCTCTCCCACTTGTTAC -3'
(R):5'- TTGCACGGTAAGAGCTGTACC -3'

Sequencing Primer
(F):5'- CACTTGTTACTTGCAAAGAAAACCTG -3'
(R):5'- CTGTACCTGACAAGAGAGGTACC -3'
Posted On 2016-03-01