Incidental Mutation 'R5938:Pprc1'
ID 462405
Institutional Source Beutler Lab
Gene Symbol Pprc1
Ensembl Gene ENSMUSG00000055491
Gene Name peroxisome proliferative activated receptor, gamma, coactivator-related 1
Synonyms
MMRRC Submission 044131-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5938 (G1)
Quality Score 111
Status Validated
Chromosome 19
Chromosomal Location 46044955-46061348 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) ATCCTCCTCCTCCTCCTCCTC to ATCCTCCTCCTCCTCCTC at 46059755 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153545 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062322] [ENSMUST00000099392] [ENSMUST00000111899] [ENSMUST00000223741] [ENSMUST00000224490] [ENSMUST00000225780] [ENSMUST00000165017] [ENSMUST00000223728]
AlphaFold Q6NZN1
Predicted Effect probably benign
Transcript: ENSMUST00000062322
SMART Domains Protein: ENSMUSP00000079389
Gene: ENSMUSG00000055491

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 probably benign
Transcript: ENSMUST00000111899
SMART Domains Protein: ENSMUSP00000107530
Gene: ENSMUSG00000055491

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 noncoding transcript
Transcript: ENSMUST00000225758
Predicted Effect probably benign
Transcript: ENSMUST00000223741
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: ENSMUST00000223683
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224434
Predicted Effect probably benign
Transcript: ENSMUST00000223728
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.3%
Validation Efficiency 94% (63/67)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf A C 11: 84,333,400 (GRCm39) D503E possibly damaging Het
Bsn C T 9: 107,990,208 (GRCm39) R1848Q possibly damaging Het
Cacna1d C T 14: 29,825,692 (GRCm39) V1001I probably damaging Het
Calhm3 T C 19: 47,140,516 (GRCm39) I192M probably damaging Het
Cep44 A G 8: 57,000,457 (GRCm39) S19P possibly damaging Het
Cxcl15 T A 5: 90,949,225 (GRCm39) I130K unknown Het
Cxcl3 C T 5: 90,934,175 (GRCm39) probably benign Het
Emc1 T G 4: 139,084,931 (GRCm39) H167Q probably benign Het
Epb41l3 T G 17: 69,566,066 (GRCm39) Y416D probably damaging Het
Erbb2 G A 11: 98,326,397 (GRCm39) R1007H probably damaging Het
Esr1 A G 10: 4,916,245 (GRCm39) probably benign Het
Fat4 G A 3: 39,005,388 (GRCm39) R1929Q probably damaging Het
Fsip2 T A 2: 82,807,835 (GRCm39) C1385S probably benign Het
Gbf1 T C 19: 46,256,891 (GRCm39) I777T probably damaging Het
Gm16092 T G 1: 85,440,689 (GRCm39) noncoding transcript Het
Greb1 T A 12: 16,767,259 (GRCm39) K314N probably damaging Het
Iigp1c C A 18: 60,378,724 (GRCm39) N86K probably damaging Het
Ipcef1 A G 10: 6,858,029 (GRCm39) probably benign Het
Iqank1 G A 15: 75,917,281 (GRCm39) E305K possibly damaging Het
Mgat4a C A 1: 37,491,344 (GRCm39) L292F probably damaging Het
Mill1 A G 7: 17,996,613 (GRCm39) N143S probably benign Het
Mindy1 A G 3: 95,201,067 (GRCm39) T324A probably benign Het
Mpdz T A 4: 81,202,851 (GRCm39) H1882L probably damaging Het
Ncapg2 T A 12: 116,393,277 (GRCm39) W494R probably damaging Het
Oas1c A T 5: 120,943,598 (GRCm39) H180Q probably benign Het
Or2q1 T A 6: 42,794,701 (GRCm39) C99S probably damaging Het
Or4c108 T C 2: 88,803,357 (GRCm39) M293V probably benign Het
Or4k49 A G 2: 111,494,708 (GRCm39) M46V probably benign Het
Or5ak20 A T 2: 85,183,620 (GRCm39) S217T probably damaging Het
Or6c88 A G 10: 129,407,396 (GRCm39) R291G probably damaging Het
Pelp1 A G 11: 70,285,693 (GRCm39) V725A probably damaging Het
Plxna4 T C 6: 32,211,541 (GRCm39) E666G probably benign Het
Prdm16 T C 4: 154,432,411 (GRCm39) D285G probably damaging Het
Rasa2 A G 9: 96,493,442 (GRCm39) S81P possibly damaging Het
Rhd T A 4: 134,623,287 (GRCm39) F418Y probably benign Het
Rnf207 T C 4: 152,402,385 (GRCm39) probably benign Het
Rsf1 C T 7: 97,334,766 (GRCm39) R1300C probably damaging Het
Ryr1 A C 7: 28,746,290 (GRCm39) L3830R probably damaging Het
Sgsh A G 11: 119,237,625 (GRCm39) Y330H probably benign Het
Sh3bp5 T C 14: 31,109,791 (GRCm39) E130G possibly damaging Het
Slc29a3 A G 10: 60,588,563 (GRCm39) probably benign Het
Slco1a5 A G 6: 142,194,443 (GRCm39) L400P probably damaging Het
Snd1 A G 6: 28,874,858 (GRCm39) probably null Het
Sox15 C T 11: 69,546,556 (GRCm39) R120C probably damaging Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Het
Tas2r110 A T 6: 132,845,016 (GRCm39) I16L probably benign Het
Tmx3 T A 18: 90,546,058 (GRCm39) V213D possibly damaging Het
Uba2 A T 7: 33,864,915 (GRCm39) probably null Het
Wfikkn1 T A 17: 26,097,886 (GRCm39) D112V probably damaging Het
Zfhx4 A G 3: 5,467,198 (GRCm39) N2452S 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
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'- TTTATGAAGGCTCTCCCACTTG -3'
(R):5'- CACGGTAAGAGCTGTACCTGAC -3'

Sequencing Primer
(F):5'- CACTTGTTACTTGCAAAGAAAACCTG -3'
(R):5'- CTGTACCTGACAAGAGAGGTACC -3'
Posted On 2017-02-28