Incidental Mutation 'IGL01303:Pparg'
ID73330
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 #IGL01303
Quality Score
Status
Chromosome6
Chromosomal Location115360951-115490399 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 115472954 bp
ZygosityHeterozygous
Amino Acid Change Valine to Leucine at position 305 (V305L)
Ref Sequence ENSEMBL: ENSMUSP00000000450 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000450] [ENSMUST00000171644] [ENSMUST00000203732]
Predicted Effect possibly damaging
Transcript: ENSMUST00000000450
AA Change: V305L

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000000450
Gene: ENSMUSG00000000440
AA Change: V305L

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 probably benign
Transcript: ENSMUST00000171644
AA Change: V275L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000131962
Gene: ENSMUSG00000000440
AA Change: V275L

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 probably benign
Transcript: ENSMUST00000203732
AA Change: V275L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000145525
Gene: ENSMUSG00000000440
AA Change: V275L

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
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik A G 7: 131,194,331 T72A possibly damaging Het
Adamts7 A C 9: 90,171,734 I111L possibly damaging Het
Ankrd13a A T 5: 114,786,002 H53L possibly damaging Het
Becn1 T C 11: 101,294,985 D145G possibly damaging Het
Bod1l A G 5: 41,817,599 V2124A probably benign Het
Celsr1 C T 15: 86,030,491 A1094T probably damaging Het
Clstn2 A T 9: 97,483,075 Y459* probably null Het
Cnksr3 A G 10: 7,154,281 probably null Het
Cux2 A T 5: 121,865,928 F1048L probably benign Het
Cybrd1 A G 2: 71,129,706 K83E probably damaging Het
Dpp8 A T 9: 65,055,012 probably benign Het
Eef2 T A 10: 81,181,943 V813E possibly damaging Het
Eef2 A T 10: 81,181,982 probably null Het
Etnk1 T G 6: 143,180,666 I79S probably damaging Het
Fam151a A G 4: 106,747,593 N384S possibly damaging Het
Fam83c A G 2: 155,834,442 L136P probably damaging Het
Gfra2 G A 14: 70,895,852 V41I probably benign Het
Gm960 T C 19: 4,659,482 T318A possibly damaging Het
Mroh9 A G 1: 163,080,575 I2T probably benign Het
Muc2 A G 7: 141,752,395 I274V probably benign Het
Nacad T G 11: 6,598,279 E1456A possibly damaging Het
Npy4r T A 14: 34,146,657 I225F possibly damaging Het
Olfr401 T G 11: 74,121,334 F15C probably damaging Het
Pik3c2a T C 7: 116,373,803 D719G possibly damaging Het
Rictor A G 15: 6,708,638 N19D probably benign Het
Slc4a1 T C 11: 102,357,964 T292A probably benign Het
Slc6a11 C T 6: 114,134,665 T103M probably damaging Het
Sorl1 A G 9: 42,024,478 probably benign Het
Tal1 T C 4: 115,068,292 V186A probably benign Het
Trpm1 T A 7: 64,210,830 probably benign Het
Tyw5 A T 1: 57,388,553 Y297* probably null Het
Unc79 C A 12: 103,161,867 Q2131K possibly damaging Het
Other mutations in Pparg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00906:Pparg APN 6 115439861 missense probably damaging 0.99
IGL00938:Pparg APN 6 115463139 missense probably benign 0.09
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 On2013-10-07