Incidental Mutation 'R9127:Ppard'
ID 693365
Institutional Source Beutler Lab
Gene Symbol Ppard
Ensembl Gene ENSMUSG00000002250
Gene Name peroxisome proliferator activator receptor delta
Synonyms PPAR-delta, Pparb/d, NUC1, Pparb, Peroxisome proliferator-activated receptor beta, PPARdelta/beta, Nr1c2
MMRRC Submission 068926-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.933) question?
Stock # R9127 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 28451715-28520446 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 28505349 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 12 (R12L)
Ref Sequence ENSEMBL: ENSMUSP00000002320 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002320] [ENSMUST00000169040]
AlphaFold P35396
Predicted Effect unknown
Transcript: ENSMUST00000002320
AA Change: R12L
SMART Domains Protein: ENSMUSP00000002320
Gene: ENSMUSG00000002250
AA Change: R12L

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
ZnF_C4 70 140 1.58e-33 SMART
Blast:HOLI 183 208 1e-6 BLAST
HOLI 250 409 1.36e-23 SMART
Predicted Effect unknown
Transcript: ENSMUST00000169040
AA Change: R12L
SMART Domains Protein: ENSMUSP00000133077
Gene: ENSMUSG00000002250
AA Change: R12L

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
ZnF_C4 70 140 1.58e-33 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (82/82)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peroxisome proliferator-activated receptor (PPAR) family. PPARs are nuclear hormone receptors that bind peroxisome proliferators and control the size and number of peroxisomes produced by cells. PPARs mediate a variety of biological processes, and may be involved in the development of several chronic diseases, including diabetes, obesity, atherosclerosis, and cancer. This protein is a potent inhibitor of ligand-induced transcription activity of PPAR alpha and PPAR gamma. It may function as an integrator of transcription repression and nuclear receptor signaling. The expression of this gene is found to be elevated in colorectal cancer cells. The elevated expression can be repressed by adenomatosis polyposis coli (APC), a tumor suppressor protein related to APC/beta-catenin signaling pathway. Knockout studies in mice suggested the role of this protein in myelination of the corpus callosum, lipid metabolism, and epidermal cell proliferation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a number of different targeted mutations show variable prenatal lethality and a range of phenotypes such as placental, brain, skin, hair follicle, adipose and lipid homeostasis abnormalities, growth retardation, reduced fertility, andincreased incidence of tumors/induced tumors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T G 11: 9,242,080 (GRCm39) D1314E probably benign Het
Abcb1a A T 5: 8,724,707 (GRCm39) R47W probably benign Het
Abcc6 T C 7: 45,629,184 (GRCm39) N1354S probably damaging Het
Abracl T C 10: 17,887,444 (GRCm39) Y61C probably damaging Het
Adamtsl1 A G 4: 86,208,027 (GRCm39) T633A probably benign Het
Agap3 G A 5: 24,681,439 (GRCm39) probably benign Het
Ago4 A T 4: 126,400,904 (GRCm39) M647K probably damaging Het
Akap7 G T 10: 25,155,676 (GRCm39) S72R unknown Het
Arhgef12 A G 9: 42,885,870 (GRCm39) L1251S possibly damaging Het
Astn2 A T 4: 66,322,164 (GRCm39) V145E unknown Het
Atxn2l A T 7: 126,097,393 (GRCm39) S304R probably damaging Het
Cd226 A T 18: 89,287,155 (GRCm39) I318F probably damaging Het
Cep250 C T 2: 155,812,042 (GRCm39) A446V unknown Het
Cfap65 A T 1: 74,958,510 (GRCm39) probably benign Het
Cfap96 T G 8: 46,415,403 (GRCm39) D201A probably benign Het
Chtf8 A G 8: 107,613,640 (GRCm39) V18A probably benign Het
Cit G T 5: 116,074,896 (GRCm39) E683* probably null Het
Ckmt2 T C 13: 92,007,337 (GRCm39) R286G probably damaging Het
Clec4a2 T A 6: 123,116,218 (GRCm39) W128R probably damaging Het
Clec4n T G 6: 123,212,447 (GRCm39) S88A probably damaging Het
Cndp2 G A 18: 84,699,121 (GRCm39) A48V probably benign Het
Csmd1 T C 8: 16,273,286 (GRCm39) T849A probably benign Het
Cts3 A T 13: 61,715,235 (GRCm39) Y199* probably null Het
Dag1 A T 9: 108,085,734 (GRCm39) L469* probably null Het
Dclre1c T C 2: 3,439,125 (GRCm39) V225A Het
Dedd A G 1: 171,166,409 (GRCm39) D115G probably damaging Het
Efcab3 T A 11: 104,741,407 (GRCm39) V2166D probably benign Het
Eif2ak3 T A 6: 70,860,704 (GRCm39) W427R probably damaging Het
Fbln2 T A 6: 91,210,473 (GRCm39) V139D probably damaging Het
Fbn1 A T 2: 125,223,985 (GRCm39) M588K possibly damaging Het
Gm17019 A T 5: 15,081,113 (GRCm39) Y109* probably null Het
Gm32742 T A 9: 51,056,015 (GRCm39) N1255Y probably damaging Het
Gm5431 T A 11: 48,779,600 (GRCm39) K441* probably null Het
Golga2 A G 2: 32,196,079 (GRCm39) D898G Het
Gramd4 G A 15: 85,975,525 (GRCm39) R39H probably benign Het
Gucy1a2 A G 9: 3,634,553 (GRCm39) N199S probably damaging Het
Heyl G A 4: 123,139,885 (GRCm39) R148H probably damaging Het
Ifi208 A T 1: 173,523,400 (GRCm39) M557L probably benign Het
Igf2r A G 17: 12,958,238 (GRCm39) V145A probably damaging Het
Ighv1-4 A T 12: 114,450,879 (GRCm39) Y76* probably null Het
Ikzf4 T C 10: 128,468,487 (GRCm39) D664G unknown Het
Il1a T A 2: 129,146,715 (GRCm39) Y126F possibly damaging Het
Lmf2 C A 15: 89,239,771 (GRCm39) probably benign Het
Lyst T C 13: 13,808,827 (GRCm39) S166P probably damaging Het
Mgat5 A C 1: 127,294,197 (GRCm39) T180P probably benign Het
Mical2 A C 7: 111,870,589 (GRCm39) K26T possibly damaging Het
Mov10 G T 3: 104,711,659 (GRCm39) Y209* probably null Het
Nol8 T C 13: 49,815,475 (GRCm39) Y528H probably benign Het
Numa1 T A 7: 101,641,869 (GRCm39) S106T possibly damaging Het
Or1e1d-ps1 A T 11: 73,819,167 (GRCm39) E39V probably damaging Het
Or4c124 G A 2: 89,156,474 (GRCm39) Q17* probably null Het
Or5b107 A G 19: 13,142,396 (GRCm39) N6S probably damaging Het
Or7g27 A G 9: 19,250,026 (GRCm39) H90R probably benign Het
Pcdhb14 A G 18: 37,582,091 (GRCm39) N399S probably damaging Het
Plcl2 T A 17: 50,918,032 (GRCm39) S944T probably benign Het
Pml A T 9: 58,127,660 (GRCm39) I695N probably benign Het
Ppip5k1 C T 2: 121,158,125 (GRCm39) probably null Het
Ppp1r3g T C 13: 36,152,621 (GRCm39) S14P probably benign Het
Pramel55 A G 5: 95,951,623 (GRCm39) Y470C probably damaging Het
Prrc2b C A 2: 32,103,764 (GRCm39) R1081S probably damaging Het
Rasgrp2 A T 19: 6,454,438 (GRCm39) E160D possibly damaging Het
Rb1cc1 G A 1: 6,333,073 (GRCm39) V1331I probably damaging Het
Rnd3 A T 2: 51,022,413 (GRCm39) S210T probably benign Het
Scaf11 T C 15: 96,312,764 (GRCm39) T1426A probably benign Het
Sin3b C T 8: 73,460,034 (GRCm39) T207I possibly damaging Het
Slc26a7 A T 4: 14,593,873 (GRCm39) Y81N probably damaging Het
Slc28a3 C T 13: 58,724,581 (GRCm39) M224I probably benign Het
Slc30a1 T C 1: 191,639,342 (GRCm39) I75T probably damaging Het
Slc6a21 T A 7: 44,929,674 (GRCm39) probably benign Het
Slco2a1 T A 9: 102,945,243 (GRCm39) L206Q probably damaging Het
Spata31d1e A G 13: 59,890,828 (GRCm39) S331P probably benign Het
Sptbn1 A G 11: 30,104,356 (GRCm39) V116A probably damaging Het
Syngap1 G A 17: 27,181,095 (GRCm39) D1008N probably damaging Het
Syt11 T C 3: 88,669,643 (GRCm39) D83G probably benign Het
Syt14 G A 1: 192,584,131 (GRCm39) T428I probably damaging Het
Taf15 T A 11: 83,395,085 (GRCm39) Y338* probably null Het
Tfap4 A T 16: 4,365,183 (GRCm39) M253K possibly damaging Het
Tnr T C 1: 159,713,680 (GRCm39) S703P possibly damaging Het
Trrap G A 5: 144,767,830 (GRCm39) D2577N probably benign Het
Uqcc6 A T 10: 82,458,588 (GRCm39) M21K probably benign Het
Wdr20 C T 12: 110,759,597 (GRCm39) S161L possibly damaging Het
Zfp503 C A 14: 22,037,418 (GRCm39) V62L probably benign Het
Other mutations in Ppard
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02002:Ppard APN 17 28,517,877 (GRCm39) missense probably damaging 1.00
IGL02023:Ppard APN 17 28,517,871 (GRCm39) missense probably benign
IGL03027:Ppard APN 17 28,518,765 (GRCm39) missense possibly damaging 0.68
R1687:Ppard UTSW 17 28,516,154 (GRCm39) missense probably damaging 1.00
R1785:Ppard UTSW 17 28,517,455 (GRCm39) critical splice donor site probably null
R1791:Ppard UTSW 17 28,505,348 (GRCm39) missense unknown
R1832:Ppard UTSW 17 28,516,084 (GRCm39) missense probably benign 0.01
R2062:Ppard UTSW 17 28,518,663 (GRCm39) missense probably damaging 1.00
R4732:Ppard UTSW 17 28,505,417 (GRCm39) missense probably benign
R4733:Ppard UTSW 17 28,505,417 (GRCm39) missense probably benign
R4801:Ppard UTSW 17 28,505,348 (GRCm39) missense unknown
R4802:Ppard UTSW 17 28,505,348 (GRCm39) missense unknown
R4803:Ppard UTSW 17 28,505,348 (GRCm39) missense unknown
R5252:Ppard UTSW 17 28,517,822 (GRCm39) missense probably benign
R5305:Ppard UTSW 17 28,517,832 (GRCm39) missense probably damaging 1.00
R6572:Ppard UTSW 17 28,516,093 (GRCm39) nonsense probably null
R7060:Ppard UTSW 17 28,517,886 (GRCm39) missense probably benign 0.00
R7098:Ppard UTSW 17 28,517,787 (GRCm39) missense possibly damaging 0.94
R7506:Ppard UTSW 17 28,517,735 (GRCm39) missense possibly damaging 0.76
R7599:Ppard UTSW 17 28,516,091 (GRCm39) missense probably damaging 1.00
R8774:Ppard UTSW 17 28,517,864 (GRCm39) missense possibly damaging 0.58
R8774-TAIL:Ppard UTSW 17 28,517,864 (GRCm39) missense possibly damaging 0.58
Predicted Primers PCR Primer
(F):5'- CTGCCTTGAGTACCAATCCC -3'
(R):5'- GGCTCTAGCATCAGTCACTCTAC -3'

Sequencing Primer
(F):5'- AGTGTTCCAGCACTGAGAGC -3'
(R):5'- AGCATCAGTCACTCTACTTCTTGG -3'
Posted On 2022-01-20