Incidental Mutation 'IGL03167:Pparg'
ID411699
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 #IGL03167
Quality Score
Status
Chromosome6
Chromosomal Location115360951-115490399 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 115473227 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Valine at position 396 (F396V)
Ref Sequence ENSEMBL: ENSMUSP00000000450 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000450] [ENSMUST00000171644] [ENSMUST00000203732]
Predicted Effect probably damaging
Transcript: ENSMUST00000000450
AA Change: F396V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000000450
Gene: ENSMUSG00000000440
AA Change: F396V

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: F366V

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000131962
Gene: ENSMUSG00000000440
AA Change: F366V

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: F366V

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000145525
Gene: ENSMUSG00000000440
AA Change: F366V

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl3 A C 6: 34,857,659 K921T possibly damaging Het
Agtpbp1 A T 13: 59,532,080 probably benign Het
Ankrd22 A T 19: 34,165,774 M1K probably null Het
Ano5 G A 7: 51,585,511 V698I probably damaging Het
Ccnh A G 13: 85,197,566 probably benign Het
Col15a1 A T 4: 47,282,635 I771F probably damaging Het
Dmrt1 T C 19: 25,545,893 S203P possibly damaging Het
Exoc5 A T 14: 49,051,345 V82E probably damaging Het
Ffar3 A T 7: 30,855,355 V180E probably damaging Het
Fhad1 T C 4: 141,972,797 S381G probably benign Het
Foxf1 C A 8: 121,084,908 Y170* probably null Het
Glis1 A G 4: 107,435,905 D75G possibly damaging Het
Gpr151 T C 18: 42,578,374 H413R probably benign Het
Gtf3c1 T C 7: 125,670,580 probably null Het
Htt T A 5: 34,818,986 F711I probably damaging Het
Il1rapl1 A G X: 86,747,261 I691T possibly damaging Het
Iqgap2 T C 13: 95,684,898 Y579C probably benign Het
Lingo3 A G 10: 80,835,344 S251P probably damaging Het
Mbl1 T A 14: 41,158,586 S144T probably benign Het
Musk A T 4: 58,366,821 R462W possibly damaging Het
Mynn T C 3: 30,609,042 L373P probably damaging Het
Myoz2 G A 3: 123,006,490 R230* probably null Het
Nup35 A G 2: 80,658,316 probably benign Het
Olfr1032 T A 2: 86,008,167 Y130* probably null Het
Olfr305 C T 7: 86,363,920 C139Y probably damaging Het
Olfr710 A G 7: 106,944,645 S119P probably damaging Het
Olfr987 C T 2: 85,331,320 D193N probably benign Het
Pira2 A T 7: 3,840,920 S618T probably damaging Het
Plch1 G A 3: 63,722,744 probably benign Het
Scaper T C 9: 55,859,824 E441G probably damaging Het
Serpinb2 T A 1: 107,522,755 C161S probably benign Het
Skint5 C T 4: 113,893,850 E333K unknown Het
Slc22a8 C T 19: 8,609,958 P461S probably damaging Het
Slc38a6 C T 12: 73,350,537 Q318* probably null Het
Sycp2 T C 2: 178,379,498 K512E probably damaging Het
Tas2r103 T A 6: 133,036,660 N148Y probably damaging Het
Tcf7l1 A G 6: 72,632,996 M257T possibly damaging Het
Tert T A 13: 73,640,000 N792K probably damaging Het
Thada A T 17: 84,458,849 V43E probably damaging Het
Trabd2b T C 4: 114,609,998 S475P probably benign Het
Vmn2r117 A G 17: 23,477,707 V242A probably damaging Het
Ypel3 A T 7: 126,780,075 I107F probably damaging Het
Zfp352 T C 4: 90,224,702 S360P 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
IGL01552:Pparg APN 6 115490122 missense probably benign 0.00
IGL02998:Pparg APN 6 115463088 missense probably benign 0.01
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 On2016-08-02