Incidental Mutation 'IGL00906:Pparg'
ID27593
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pparg
Ensembl Gene ENSMUSG00000000440
Gene Nameperoxisome proliferator activated receptor gamma
SynonymsPpar-gamma2, PPAR-gamma, Nr1c3, PPARgamma, PPARgamma2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00906
Quality Score
Status
Chromosome6
Chromosomal Location115360951-115490399 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 115439861 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 5 (E5G)
Ref Sequence ENSEMBL: ENSMUSP00000145083 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000450] [ENSMUST00000171644] [ENSMUST00000203732] [ENSMUST00000204305] [ENSMUST00000205213]
Predicted Effect probably damaging
Transcript: ENSMUST00000000450
AA Change: E35G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000000450
Gene: ENSMUSG00000000440
AA Change: E35G

DomainStartEndE-ValueType
Pfam:PPARgamma_N 31 108 1.1e-35 PFAM
ZnF_C4 136 206 2.61e-34 SMART
HOLI 315 474 9.89e-26 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000171644
AA Change: E5G

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000131962
Gene: ENSMUSG00000000440
AA Change: E5G

DomainStartEndE-ValueType
Pfam:PPARgamma_N 1 78 3.1e-36 PFAM
ZnF_C4 106 176 2.61e-34 SMART
HOLI 285 444 9.89e-26 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000203732
AA Change: E5G

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000145525
Gene: ENSMUSG00000000440
AA Change: E5G

DomainStartEndE-ValueType
Pfam:PPARgamma_N 1 78 2e-35 PFAM
ZnF_C4 106 176 2.61e-34 SMART
HOLI 285 444 9.89e-26 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203896
Predicted Effect probably damaging
Transcript: ENSMUST00000204305
AA Change: E5G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000145083
Gene: ENSMUSG00000000440
AA Change: E5G

DomainStartEndE-ValueType
Pfam:PPARgamma_N 1 78 7.3e-34 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000205213
AA Change: E5G

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000144975
Gene: ENSMUSG00000000440
AA Change: E5G

DomainStartEndE-ValueType
Pfam:PPARgamma_N 1 78 7.1e-33 PFAM
ZnF_C4 106 176 1.1e-36 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a nuclear receptor protein belonging to the peroxisome proliferator-activated receptor (Ppar) family. The encoded protein is a ligand-activated transcription factor that is involved in the regulation of adipocyte differentiation and glucose homeostasis. The encoded protein forms a heterodimer with retinoid X receptors and binds to DNA motifs termed "peroxisome proliferator response elements" to either activate or inhibit gene expression. Mice lacking the encoded protein die at an embryonic stage due to severe defects in placental vascularization. When the embryos lacking this gene are supplemented with healthy placentas, the mutants survive to term, but succumb to lipodystrophy and multiple hemorrhages. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygotes for targeted null mutations exhibit lethality due to placental defects. Heterozygotes show greater B cell proliferation, enhanced leptin secretion, and resistance to diet-induced adipocyte hypertrophy and insulin resistance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs A G 5: 125,503,274 E221G probably benign Het
Alb A G 5: 90,472,073 N453S probably benign Het
Bckdha C T 7: 25,633,342 V183M probably benign Het
Brpf3 A G 17: 28,836,700 probably benign Het
Ccdc163 T C 4: 116,710,290 probably null Het
Ccdc178 A T 18: 22,135,168 C87* probably null Het
Clca4a A G 3: 144,954,939 V708A probably damaging Het
Cyfip2 A G 11: 46,200,685 V1136A possibly damaging Het
Dnah11 A C 12: 117,911,202 L3976R probably damaging Het
Erich1 A G 8: 14,033,770 probably benign Het
Fam228a A T 12: 4,732,773 Y107N possibly damaging Het
Gm4788 A T 1: 139,731,574 V739E probably damaging Het
Iars2 A T 1: 185,296,403 probably benign Het
Ifi204 A G 1: 173,759,631 probably benign Het
Ifih1 A T 2: 62,645,824 I36N probably benign Het
Jak1 C T 4: 101,154,629 G1092D probably damaging Het
Kir3dl2 G A X: 136,456,348 P122S probably damaging Het
Nacc2 T C 2: 26,061,666 T386A probably damaging Het
Nrf1 C T 6: 30,098,478 T135M probably damaging Het
Olfr641 G A 7: 104,039,844 G16D probably damaging Het
Olfr727 A G 14: 50,126,757 Y60C probably damaging Het
Pcca A C 14: 122,690,133 D436A probably benign Het
Pcdhb11 A T 18: 37,422,121 Q168L possibly damaging Het
Pdgfra A G 5: 75,180,173 I598V probably benign Het
Pla2g6 C T 15: 79,287,747 V637I probably damaging Het
Plac1 A C X: 53,070,716 V39G probably damaging Het
Ppp1r9a A G 6: 5,157,023 D967G possibly damaging Het
Rel T C 11: 23,744,266 T322A probably benign Het
Sgk3 A G 1: 9,877,245 T137A probably benign Het
Sgpp2 A G 1: 78,390,547 R106G probably benign Het
Slc27a5 T A 7: 12,991,057 M459L probably benign Het
Snx21 T C 2: 164,786,220 L52P probably damaging Het
Srarp G A 4: 141,433,273 T83M probably benign Het
Sstr2 A G 11: 113,624,995 R247G probably benign Het
Tnpo3 G A 6: 29,589,048 S101L probably damaging Het
Zan A G 5: 137,389,360 I4863T unknown Het
Other mutations in Pparg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00938:Pparg APN 6 115463139 missense probably benign 0.09
IGL01303:Pparg APN 6 115472954 missense possibly damaging 0.89
IGL01454:Pparg APN 6 115439939 missense probably damaging 1.00
IGL01552:Pparg APN 6 115490122 missense probably benign 0.00
IGL02998:Pparg APN 6 115463088 missense probably benign 0.01
IGL03167:Pparg APN 6 115473227 missense probably damaging 1.00
IGL03179:Pparg APN 6 115439872 missense probably damaging 1.00
Energy UTSW 6 115451044 missense probably damaging 1.00
R1083:Pparg UTSW 6 115490146 missense probably damaging 0.99
R1569:Pparg UTSW 6 115439999 missense probably benign 0.14
R1620:Pparg UTSW 6 115473281 missense probably benign 0.01
R1850:Pparg UTSW 6 115450980 missense probably damaging 1.00
R2339:Pparg UTSW 6 115451044 missense probably damaging 1.00
R4429:Pparg UTSW 6 115440023 missense probably benign 0.09
R4941:Pparg UTSW 6 115490110 missense probably damaging 1.00
R4946:Pparg UTSW 6 115451028 missense probably damaging 1.00
R5110:Pparg UTSW 6 115473003 missense probably damaging 1.00
R5523:Pparg UTSW 6 115490071 missense probably damaging 1.00
R6900:Pparg UTSW 6 115472988 missense possibly damaging 0.87
R6994:Pparg UTSW 6 115451050 missense probably benign 0.36
R7177:Pparg UTSW 6 115441620 missense probably benign 0.40
R7755:Pparg UTSW 6 115463106 missense probably damaging 1.00
R8103:Pparg UTSW 6 115473141 missense possibly damaging 0.91
X0064:Pparg UTSW 6 115439914 missense probably benign 0.01
Posted On2013-04-17