|Institutional Source||Beutler Lab|
|Gene Name||peroxisome proliferator activator receptor delta|
|Synonyms||Nr1c2, Pparb/d, PPAR-delta, Peroxisome proliferator-activated receptor beta, Pparb, NUC1, PPARdelta/beta|
|Is this an essential gene?||Probably essential (E-score: 0.926)|
|Stock #||R7506 (G1)|
|Chromosomal Location||28232754-28301469 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 28298761 bp|
|Amino Acid Change||Asparagine to Tyrosine at position 268 (N268Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000002320 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000002320] [ENSMUST00000169040]|
|Predicted Effect||possibly damaging
AA Change: N268Y
PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: N268Y
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||98% (58/59)|
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||
|Other mutations in Ppard||
(F):5'- AGCCCTTTGTCATCCACGAC -3'
(R):5'- CTCCAGCGCATTGAACTTG -3'
(F):5'- TTGTCATCCACGACATCGAG -3'
(R):5'- ACTCGAACTTGGGCTCAATG -3'