Incidental Mutation 'IGL02023:Ppard'
ID184060
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppard
Ensembl Gene ENSMUSG00000002250
Gene Nameperoxisome proliferator activator receptor delta
SynonymsNr1c2, Pparb/d, PPAR-delta, Peroxisome proliferator-activated receptor beta, Pparb, NUC1, PPARdelta/beta
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.920) question?
Stock #IGL02023
Quality Score
Status
Chromosome17
Chromosomal Location28232754-28301469 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 28298897 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 313 (H313R)
Ref Sequence ENSEMBL: ENSMUSP00000002320 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002320] [ENSMUST00000169040]
Predicted Effect probably benign
Transcript: ENSMUST00000002320
AA Change: H313R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000002320
Gene: ENSMUSG00000002250
AA Change: H313R

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 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

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
ZnF_C4 70 140 1.58e-33 SMART
Coding Region Coverage
Validation Efficiency
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 110,063,116 K833E probably benign Het
Adam29 T C 8: 55,872,484 I312V probably benign Het
Adcy8 T A 15: 64,822,220 I403F probably damaging Het
Ahcyl1 A T 3: 107,667,694 N444K probably damaging Het
Ang4 T C 14: 51,764,054 probably benign Het
Atf6b T C 17: 34,651,867 V401A possibly damaging Het
Atp7a A T X: 106,094,982 I604F probably damaging Het
Cd151 T C 7: 141,470,457 Y202H probably damaging Het
Cd99l2 A T X: 71,449,946 N64K possibly damaging Het
Cog7 C T 7: 121,943,777 probably null Het
Ddx58 A G 4: 40,216,487 Y504H possibly damaging Het
Decr2 A T 17: 26,087,380 M94K probably benign Het
Dock11 A T X: 35,968,769 H188L probably benign Het
Dscam T C 16: 96,801,197 S682G probably benign Het
Fam126b G A 1: 58,530,115 A435V possibly damaging Het
Gja3 G T 14: 57,035,679 P412Q probably damaging Het
Glrb T C 3: 80,850,955 N333D probably benign Het
Gm11639 A T 11: 104,721,432 probably benign Het
Gpr65 T A 12: 98,275,868 V260D probably benign Het
Hormad1 A G 3: 95,578,293 E264G possibly damaging Het
Hsph1 T C 5: 149,633,859 R46G probably damaging Het
Iars A G 13: 49,688,249 Y71C probably damaging Het
Lsg1 T C 16: 30,585,676 H35R probably damaging Het
Mfge8 C T 7: 79,145,237 probably benign Het
Mgat4c T A 10: 102,378,184 Y9* probably null Het
Mpdz A T 4: 81,329,529 I1074N probably damaging Het
Muc19 T C 15: 91,888,259 noncoding transcript Het
Nbea A T 3: 55,681,016 M2434K probably damaging Het
Ncoa2 A G 1: 13,174,854 L540P probably damaging Het
Nhsl2 A G X: 102,078,252 R554G probably damaging Het
Npdc1 T A 2: 25,408,020 probably benign Het
Olfr171 A T 16: 19,624,408 S231T probably benign Het
Osbpl10 T A 9: 115,226,722 V654D probably damaging Het
Plxna1 C A 6: 89,357,332 G105V possibly damaging Het
Pnmal2 T C 7: 16,945,691 V200A probably damaging Het
Rasgrp4 T C 7: 29,138,910 L103P probably damaging Het
Ripk4 A T 16: 97,755,231 L104Q probably damaging Het
Setd2 T C 9: 110,594,636 V2253A probably benign Het
Setdb2 A G 14: 59,431,158 S43P probably damaging Het
Stab2 C A 10: 86,871,831 G1742V possibly damaging Het
Timm23 A G 14: 32,193,847 probably benign Het
Ttn T C 2: 76,785,655 N14902S possibly damaging Het
Ush2a A G 1: 188,733,514 T2760A probably benign Het
Vmn2r25 T C 6: 123,839,429 N398D probably damaging Het
Other mutations in Ppard
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02002:Ppard APN 17 28298903 missense probably damaging 1.00
IGL03027:Ppard APN 17 28299791 missense possibly damaging 0.68
R1687:Ppard UTSW 17 28297180 missense probably damaging 1.00
R1785:Ppard UTSW 17 28298481 critical splice donor site probably null
R1791:Ppard UTSW 17 28286374 missense unknown
R1832:Ppard UTSW 17 28297110 missense probably benign 0.01
R2062:Ppard UTSW 17 28299689 missense probably damaging 1.00
R4732:Ppard UTSW 17 28286443 missense probably benign
R4733:Ppard UTSW 17 28286443 missense probably benign
R4801:Ppard UTSW 17 28286374 missense unknown
R4802:Ppard UTSW 17 28286374 missense unknown
R4803:Ppard UTSW 17 28286374 missense unknown
R5252:Ppard UTSW 17 28298848 missense probably benign
R5305:Ppard UTSW 17 28298858 missense probably damaging 1.00
R6572:Ppard UTSW 17 28297119 nonsense probably null
R7060:Ppard UTSW 17 28298912 missense probably benign 0.00
R7098:Ppard UTSW 17 28298813 missense possibly damaging 0.94
R7506:Ppard UTSW 17 28298761 missense possibly damaging 0.76
R7599:Ppard UTSW 17 28297117 missense probably damaging 1.00
Posted On2014-05-07