Incidental Mutation 'R5305:Ppard'
ID 404533
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 042888-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.918) question?
Stock # R5305 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 28451715-28520446 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 28517832 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 300 (D300G)
Ref Sequence ENSEMBL: ENSMUSP00000002320 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002320] [ENSMUST00000169040]
AlphaFold P35396
Predicted Effect probably damaging
Transcript: ENSMUST00000002320
AA Change: D300G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002320
Gene: ENSMUSG00000002250
AA Change: D300G

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 benign
Transcript: ENSMUST00000169040
SMART Domains Protein: ENSMUSP00000133077
Gene: ENSMUSG00000002250

low complexity region 2 18 N/A INTRINSIC
ZnF_C4 70 140 1.58e-33 SMART
Meta Mutation Damage Score 0.7477 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 99% (67/68)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik G A 15: 81,943,420 (GRCm39) V11M possibly damaging Het
Acot8 A G 2: 164,637,685 (GRCm39) V179A probably benign Het
Actb A G 5: 142,889,985 (GRCm39) I194T probably benign Het
Ap1g2 A G 14: 55,336,533 (GRCm39) V787A probably benign Het
Areg G T 5: 91,292,308 (GRCm39) A203S probably damaging Het
Asb13 A T 13: 3,693,479 (GRCm39) D79V probably damaging Het
Atad2b C T 12: 5,015,855 (GRCm39) T527I probably damaging Het
Auts2 T G 5: 131,472,632 (GRCm39) probably benign Het
Ceacam3 T A 7: 16,885,501 (GRCm39) S35T probably damaging Het
Crebzf T C 7: 90,093,342 (GRCm39) probably benign Het
Cttnbp2 G T 6: 18,381,097 (GRCm39) N1366K probably benign Het
Cubn C A 2: 13,393,750 (GRCm39) C1417F probably damaging Het
Dot1l C T 10: 80,626,627 (GRCm39) P162S probably benign Het
Epc1 G A 18: 6,490,690 (GRCm39) probably benign Het
Eps8l1 A G 7: 4,480,895 (GRCm39) S613G possibly damaging Het
Erich6 T G 3: 58,532,537 (GRCm39) I357L probably benign Het
Foxj3 T A 4: 119,477,155 (GRCm39) S288T possibly damaging Het
Gls2 T G 10: 128,040,578 (GRCm39) Y326* probably null Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gm7535 T C 17: 18,132,061 (GRCm39) probably benign Het
Gxylt2 T G 6: 100,764,179 (GRCm39) L288R probably damaging Het
Kdm4a T C 4: 118,017,698 (GRCm39) Y456C probably damaging Het
Mgat4c T A 10: 102,225,140 (GRCm39) F451L possibly damaging Het
Mrpl20 G A 4: 155,888,162 (GRCm39) R17H probably damaging Het
Mtf2 A G 5: 108,252,365 (GRCm39) T465A possibly damaging Het
Mycbp2 A C 14: 103,583,757 (GRCm39) L66R probably benign Het
Nos1ap T A 1: 170,176,968 (GRCm39) K145M probably damaging Het
Nr2e1 A T 10: 42,447,483 (GRCm39) Y176* probably null Het
Obscn T C 11: 58,903,541 (GRCm39) T7628A possibly damaging Het
Or7a37 A T 10: 78,806,390 (GRCm39) K302N possibly damaging Het
Pitx2 T G 3: 129,009,489 (GRCm39) V129G probably damaging Het
Polr2e A G 10: 79,873,897 (GRCm39) probably benign Het
Ppp1r27 A G 11: 120,441,743 (GRCm39) V46A probably benign Het
Prex2 T A 1: 11,177,902 (GRCm39) V332E probably damaging Het
Prss30 T G 17: 24,191,750 (GRCm39) Y257S probably benign Het
Ptprd T C 4: 75,900,863 (GRCm39) E1082G probably damaging Het
Rab3c T A 13: 110,317,611 (GRCm39) R89S probably damaging Het
Rimbp2 A G 5: 128,874,445 (GRCm39) V389A possibly damaging Het
Rims1 T A 1: 22,635,623 (GRCm39) R119S probably damaging Het
Sema3b T C 9: 107,480,536 (GRCm39) H137R probably null Het
Sf3b4 G C 3: 96,080,958 (GRCm39) A89P probably damaging Het
Sgta T A 10: 80,882,081 (GRCm39) Q298L probably damaging Het
Skic3 G A 13: 76,295,886 (GRCm39) E1050K possibly damaging Het
Spag9 C A 11: 93,959,838 (GRCm39) D342E probably damaging Het
Sry T A Y: 2,662,982 (GRCm39) D226V unknown Het
Sv2a A G 3: 96,092,774 (GRCm39) E158G possibly damaging Het
Sytl2 A G 7: 90,031,071 (GRCm39) probably benign Het
Thbs3 T A 3: 89,125,283 (GRCm39) probably benign Het
Top3a A T 11: 60,653,365 (GRCm39) N56K possibly damaging Het
Tyk2 T C 9: 21,020,677 (GRCm39) D918G probably damaging Het
Uqcrh A G 4: 115,924,481 (GRCm39) probably benign Het
Vmn1r61 A G 7: 5,613,814 (GRCm39) S167P probably damaging Het
Wdr25 C A 12: 108,992,366 (GRCm39) H74N probably damaging Het
Zfp458 T C 13: 67,404,382 (GRCm39) N686D probably benign Het
Zfp574 T A 7: 24,780,515 (GRCm39) H512Q Het
Zfp976 A T 7: 42,262,902 (GRCm39) Y312N probably benign Het
Zscan4c G A 7: 10,743,462 (GRCm39) V354I 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
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
R9127:Ppard UTSW 17 28,505,349 (GRCm39) missense unknown
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-07-22