Incidental Mutation 'IGL01552:Pparg'
ID90596
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 #IGL01552
Quality Score
Status
Chromosome6
Chromosomal Location115360951-115490399 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 115490122 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 452 (H452L)
Ref Sequence ENSEMBL: ENSMUSP00000145525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000450] [ENSMUST00000171644] [ENSMUST00000203732]
Predicted Effect probably benign
Transcript: ENSMUST00000000450
AA Change: H482L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000000450
Gene: ENSMUSG00000000440
AA Change: H482L

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: H452L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000131962
Gene: ENSMUSG00000000440
AA Change: H452L

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: H452L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000145525
Gene: ENSMUSG00000000440
AA Change: H452L

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5330417C22Rik A G 3: 108,481,312 W252R possibly damaging Het
Arl8a T C 1: 135,152,868 probably null Het
Bivm A G 1: 44,126,773 N128D probably benign Het
Chil3 C A 3: 106,148,848 G330V probably damaging Het
Dscaml1 A G 9: 45,447,908 H155R probably damaging Het
Etl4 T A 2: 20,778,189 V687D probably damaging Het
Fbxw10 A T 11: 62,857,684 probably null Het
Gfpt2 G T 11: 49,805,005 E21* probably null Het
Gm10197 C T 19: 53,371,691 V26I possibly damaging Het
Gm4788 A G 1: 139,739,302 Y412H probably damaging Het
Gm6614 T C 6: 141,987,706 K451R possibly damaging Het
Golim4 T C 3: 75,956,195 E35G probably damaging Het
Igdcc4 A G 9: 65,122,502 probably benign Het
Ino80d A G 1: 63,057,977 probably benign Het
Ipo13 A G 4: 117,900,964 M734T probably benign Het
Klk1b27 C T 7: 44,054,615 L61F probably damaging Het
Lamtor5 T C 3: 107,279,008 V31A probably benign Het
Lrp1 A T 10: 127,588,510 L769* probably null Het
Nipsnap1 A T 11: 4,889,124 S135C probably damaging Het
Olfr1277 C A 2: 111,269,912 G152C probably damaging Het
Rab34 C T 11: 78,191,438 A202V probably damaging Het
Ryr3 T A 2: 112,825,883 T1923S possibly damaging Het
Sall4 A G 2: 168,756,123 S266P probably damaging Het
Sh2d4b T C 14: 40,860,648 Q195R probably benign Het
Sik2 C A 9: 50,917,522 probably benign Het
Slc25a36 A G 9: 97,079,233 V111A probably benign Het
Sptbn5 A T 2: 120,054,422 probably benign Het
Tac2 G A 10: 127,726,101 E25K possibly damaging Het
Tnc A G 4: 63,970,408 V1807A probably damaging Het
Top3b T C 16: 16,887,823 probably benign Het
Zfp827 A G 8: 79,076,191 E464G probably 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
IGL01303:Pparg APN 6 115472954 missense possibly damaging 0.89
IGL01454:Pparg APN 6 115439939 missense probably damaging 1.00
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 On2013-12-09