Incidental Mutation 'R6572:Ppard'
ID 526302
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 044696-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.918) question?
Stock # R6572 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 28451715-28520446 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 28516093 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 106 (E106*)
Ref Sequence ENSEMBL: ENSMUSP00000133077 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002320] [ENSMUST00000169040]
AlphaFold P35396
Predicted Effect probably null
Transcript: ENSMUST00000002320
AA Change: E106*
SMART Domains Protein: ENSMUSP00000002320
Gene: ENSMUSG00000002250
AA Change: E106*

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 noncoding transcript
Transcript: ENSMUST00000123020
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142226
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166744
Predicted Effect probably null
Transcript: ENSMUST00000169040
AA Change: E106*
SMART Domains Protein: ENSMUSP00000133077
Gene: ENSMUSG00000002250
AA Change: E106*

low complexity region 2 18 N/A INTRINSIC
ZnF_C4 70 140 1.58e-33 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 97% (62/64)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447A16Rik C T 15: 37,425,961 (GRCm39) Q34* probably null Het
Adamts3 T A 5: 90,009,468 (GRCm39) H65L possibly damaging Het
Ago2 A G 15: 72,998,826 (GRCm39) V257A probably benign Het
Ahnak A G 19: 8,985,340 (GRCm39) K2208R probably damaging Het
Apc2 C T 10: 80,147,613 (GRCm39) S860L probably damaging Het
Arhgap18 A G 10: 26,722,412 (GRCm39) probably null Het
Arhgap33 T C 7: 30,226,635 (GRCm39) E524G probably damaging Het
Ascc3 C T 10: 50,566,343 (GRCm39) Q763* probably null Het
Atg2a T C 19: 6,304,695 (GRCm39) L1184P probably damaging Het
Baiap2l1 A G 5: 144,223,112 (GRCm39) L75P probably damaging Het
Btbd17 A T 11: 114,683,046 (GRCm39) L222Q probably damaging Het
Chst13 G T 6: 90,286,588 (GRCm39) R125S probably benign Het
Cpsf1 CCCCTGCATGAGGCAGGTCCC CCCC 15: 76,481,655 (GRCm39) probably null Het
Cracr2a T C 6: 127,585,715 (GRCm39) probably null Het
Dchs1 T A 7: 105,408,013 (GRCm39) T1940S possibly damaging Het
Ddit4l G T 3: 137,332,111 (GRCm39) R159L probably benign Het
Dock3 A G 9: 106,866,674 (GRCm39) Y679H probably damaging Het
Dyrk4 T G 6: 126,874,201 (GRCm39) I130L probably benign Het
Eml2 T C 7: 18,930,539 (GRCm39) V373A possibly damaging Het
Entrep1 A T 19: 23,962,082 (GRCm39) M307K possibly damaging Het
Ephb1 A G 9: 101,944,097 (GRCm39) F312L probably benign Het
Fndc9 A T 11: 46,128,708 (GRCm39) I76F probably damaging Het
Frk G A 10: 34,459,963 (GRCm39) R186K probably benign Het
Gpatch3 G T 4: 133,302,191 (GRCm39) G41C probably damaging Het
Greb1l T A 18: 10,522,131 (GRCm39) H633Q probably benign Het
Gstt4 T A 10: 75,650,954 (GRCm39) T223S probably damaging Het
Hpd C T 5: 123,318,739 (GRCm39) E60K probably benign Het
Inpp5d C T 1: 87,623,118 (GRCm39) P403S probably damaging Het
Klk1b9 T A 7: 43,629,159 (GRCm39) I189K probably benign Het
Kmt2e A T 5: 23,702,579 (GRCm39) H239L possibly damaging Het
Lrriq3 A G 3: 154,887,312 (GRCm39) D344G probably benign Het
Neb A G 2: 52,168,859 (GRCm39) I1892T probably damaging Het
Neto2 A T 8: 86,397,033 (GRCm39) I73N possibly damaging Het
Nipal3 A T 4: 135,174,564 (GRCm39) S396T probably benign Het
Or1e35 A G 11: 73,797,629 (GRCm39) S230P possibly damaging Het
Or51q1c T A 7: 103,648,391 (GRCm39) probably null Het
Phf20l1 T A 15: 66,481,396 (GRCm39) V264D probably damaging Het
Pigs A G 11: 78,230,190 (GRCm39) Y319C probably damaging Het
Pkd2l2 T C 18: 34,571,824 (GRCm39) Y608H probably damaging Het
Pramel11 C T 4: 143,621,943 (GRCm39) V471I possibly damaging Het
Pramel16 A G 4: 143,676,262 (GRCm39) S281P probably benign Het
Psenen T C 7: 30,261,773 (GRCm39) T48A probably benign Het
Ralgps2 A T 1: 156,651,620 (GRCm39) probably null Het
Ripk4 T A 16: 97,547,105 (GRCm39) R323* probably null Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Scgb2b24 T A 7: 33,437,902 (GRCm39) E68D probably damaging Het
Setx A G 2: 29,063,706 (GRCm39) D2334G possibly damaging Het
Sh3bp4 A G 1: 89,072,643 (GRCm39) D497G possibly damaging Het
Smarca2 A T 19: 26,656,573 (GRCm39) I850F possibly damaging Het
Smyd1 A G 6: 71,202,396 (GRCm39) Y270H probably damaging Het
Spidr T A 16: 15,730,380 (GRCm39) probably null Het
Srms T C 2: 180,854,450 (GRCm39) D39G probably benign Het
Trpc2 T A 7: 101,739,213 (GRCm39) I528N probably damaging Het
Tshr A G 12: 91,505,134 (GRCm39) I691V probably benign Het
Urb1 A C 16: 90,584,302 (GRCm39) V560G probably benign Het
Usp37 A G 1: 74,534,941 (GRCm39) S2P possibly damaging Het
Vmn1r60 G A 7: 5,547,599 (GRCm39) S167F probably benign Het
Vmn2r89 G A 14: 51,693,450 (GRCm39) V267I probably damaging Het
Washc3 T A 10: 88,049,568 (GRCm39) D63E probably benign Het
Wdr89 A G 12: 75,680,159 (GRCm39) S32P probably damaging Het
Zfp157 T C 5: 138,455,313 (GRCm39) S504P possibly damaging 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
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
R9127:Ppard UTSW 17 28,505,349 (GRCm39) missense unknown
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-06-22