Incidental Mutation 'IGL03027:Ppard'
ID 408240
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Probably essential (E-score: 0.918) question?
Stock # IGL03027
Quality Score
Status
Chromosome 17
Chromosomal Location 28451715-28520446 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 28518765 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 422 (T422K)
Ref Sequence ENSEMBL: ENSMUSP00000002320 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002320] [ENSMUST00000169040]
AlphaFold P35396
Predicted Effect possibly damaging
Transcript: ENSMUST00000002320
AA Change: T422K

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000002320
Gene: ENSMUSG00000002250
AA Change: T422K

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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf1 A T 17: 43,607,605 (GRCm39) Y108F probably damaging Het
Afap1 T C 5: 36,119,094 (GRCm39) I243T probably benign Het
Ano5 A G 7: 51,216,025 (GRCm39) D320G probably damaging Het
Arhgef1 T A 7: 24,623,157 (GRCm39) I423K probably damaging Het
Casp9 A G 4: 141,539,584 (GRCm39) E410G probably benign Het
Ccdc39 A C 3: 33,884,267 (GRCm39) H358Q probably benign Het
Ces5a A T 8: 94,249,742 (GRCm39) probably null Het
Clip1 A T 5: 123,759,919 (GRCm39) M935K probably benign Het
Col12a1 A G 9: 79,548,833 (GRCm39) Y2171H probably benign Het
Cyp2f2 A T 7: 26,831,996 (GRCm39) N417I possibly damaging Het
Dock3 G A 9: 106,870,677 (GRCm39) P579L probably damaging Het
Dock7 T C 4: 98,866,164 (GRCm39) M1209V probably benign Het
Dock7 T C 4: 98,958,450 (GRCm39) T334A possibly damaging Het
Dst A T 1: 34,225,106 (GRCm39) I1171F possibly damaging Het
Eya1 G T 1: 14,241,190 (GRCm39) H576N probably damaging Het
Fam117a A G 11: 95,268,399 (GRCm39) T267A probably benign Het
Fam43a C T 16: 30,419,922 (GRCm39) R169C probably damaging Het
Gabra6 T C 11: 42,205,980 (GRCm39) H291R probably damaging Het
Gm7145 T C 1: 117,895,417 (GRCm39) S27P probably benign Het
Gpt C T 15: 76,582,289 (GRCm39) probably benign Het
Grip2 A G 6: 91,755,852 (GRCm39) I586T probably benign Het
Hif1a C T 12: 73,987,251 (GRCm39) P448L probably benign Het
Hmcn1 C T 1: 150,684,290 (GRCm39) V427I probably benign Het
Ipo8 C A 6: 148,678,737 (GRCm39) V954L probably benign Het
Kdm5a G T 6: 120,351,951 (GRCm39) probably null Het
Klhl36 T A 8: 120,603,229 (GRCm39) S495T probably benign Het
Lpar5 T A 6: 125,059,203 (GRCm39) L308Q probably damaging Het
Lrp2 T G 2: 69,367,897 (GRCm39) D205A probably benign Het
Lrriq1 A G 10: 103,063,057 (GRCm39) I83T probably benign Het
Mapk8ip2 A T 15: 89,342,310 (GRCm39) D507V probably damaging Het
Mical1 T C 10: 41,355,501 (GRCm39) probably benign Het
Myef2 T A 2: 124,930,954 (GRCm39) H539L possibly damaging Het
Myh7 T C 14: 55,221,007 (GRCm39) E972G probably damaging Het
Naip5 A G 13: 100,359,524 (GRCm39) Y571H probably benign Het
Nfasc T A 1: 132,538,207 (GRCm39) N478I probably damaging Het
Or6c1b A G 10: 129,272,780 (GRCm39) Y33C probably damaging Het
Pde2a A T 7: 101,130,627 (GRCm39) Q89L probably benign Het
Ppp1r13b G T 12: 111,796,830 (GRCm39) Y904* probably null Het
Ptx4 T A 17: 25,344,022 (GRCm39) I424K possibly damaging Het
Rab19 A G 6: 39,360,927 (GRCm39) D25G probably damaging Het
Rbl2 T A 8: 91,805,534 (GRCm39) I197N possibly damaging Het
Rttn A G 18: 88,997,814 (GRCm39) D273G probably damaging Het
Sec16a G A 2: 26,313,601 (GRCm39) R1920C probably benign Het
Sec23b A T 2: 144,429,465 (GRCm39) N731I possibly damaging Het
Serpinb9d G A 13: 33,386,698 (GRCm39) W255* probably null Het
Sim2 G A 16: 93,910,351 (GRCm39) probably benign Het
Tbl3 T C 17: 24,920,167 (GRCm39) probably null Het
Tmem176b C T 6: 48,812,573 (GRCm39) A131T probably damaging Het
Tmem181a T A 17: 6,348,494 (GRCm39) V332D probably damaging Het
Trgc1 G T 13: 19,398,563 (GRCm39) G97* probably null Het
Tuba3b T A 6: 145,565,117 (GRCm39) L195Q probably damaging Het
Ubc A T 5: 125,464,565 (GRCm39) V254D probably damaging Het
Ube4b G T 4: 149,465,734 (GRCm39) P239T probably damaging Het
Vars1 G T 17: 35,232,663 (GRCm39) M862I probably damaging Het
Vmn2r66 T C 7: 84,644,777 (GRCm39) probably benign Het
Wdr59 G A 8: 112,188,824 (GRCm39) A720V probably damaging Het
Zfhx3 G A 8: 109,519,820 (GRCm39) R314Q probably 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
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
R9127:Ppard UTSW 17 28,505,349 (GRCm39) missense unknown
Posted On 2016-08-02