Incidental Mutation 'IGL03179:Pparg'
ID412137
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 #IGL03179
Quality Score
Status
Chromosome6
Chromosomal Location115360951-115490399 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 115439872 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 9 (W9R)
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: W39R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000000450
Gene: ENSMUSG00000000440
AA Change: W39R

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 damaging
Transcript: ENSMUST00000171644
AA Change: W9R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000131962
Gene: ENSMUSG00000000440
AA Change: W9R

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 damaging
Transcript: ENSMUST00000203732
AA Change: W9R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000145525
Gene: ENSMUSG00000000440
AA Change: W9R

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: W9R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145083
Gene: ENSMUSG00000000440
AA Change: W9R

DomainStartEndE-ValueType
Pfam:PPARgamma_N 1 78 7.3e-34 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000205213
AA Change: W9R

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000144975
Gene: ENSMUSG00000000440
AA Change: W9R

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932429P05Rik G A X: 89,752,828 G89S possibly damaging Het
AI314180 C T 4: 58,832,777 G861D probably damaging Het
Akap11 T A 14: 78,507,740 H1736L probably benign Het
App A G 16: 85,082,847 C133R probably damaging Het
Atxn7l2 G T 3: 108,203,647 C524* probably null Het
Cckbr T C 7: 105,434,923 V288A probably benign Het
Ccr1l1 T C 9: 123,977,750 Y220C probably damaging Het
Cdc42se2 A T 11: 54,723,591 F47I possibly damaging Het
Cep290 T A 10: 100,568,088 I2317N possibly damaging Het
Chrnd T C 1: 87,195,780 S347P probably damaging Het
Clcn5 T A X: 7,163,326 probably null Het
D6Wsu163e A G 6: 126,950,111 D187G probably damaging Het
Dnajc13 T A 9: 104,167,435 I1852F probably benign Het
Fcnb A G 2: 28,076,634 S296P possibly damaging Het
Fut2 C T 7: 45,650,649 R233K probably benign Het
Gm21985 G A 2: 112,358,555 V1078I possibly damaging Het
Gpc3 A T X: 52,397,213 probably benign Het
Krt10 A G 11: 99,389,218 probably benign Het
Lrrk2 A G 15: 91,700,578 E370G probably damaging Het
Myo5c A T 9: 75,255,866 I326F possibly damaging Het
Neb A T 2: 52,176,641 L5906Q probably damaging Het
Nrd1 A T 4: 109,046,691 probably benign Het
Nrip2 A G 6: 128,404,975 N17S possibly damaging Het
Olfr568 T C 7: 102,878,072 probably benign Het
Olfr750 T C 14: 51,071,010 I128V probably benign Het
P2rx7 A G 5: 122,673,700 Y358C possibly damaging Het
Pex10 A C 4: 155,067,897 I61L probably benign Het
Phax T C 18: 56,580,292 F248L probably damaging Het
Phtf2 A T 5: 20,782,399 D366E probably damaging Het
Pnpo A G 11: 96,939,259 Y205H possibly damaging Het
Prex1 C T 2: 166,585,194 S867N probably benign Het
Pyroxd2 T A 19: 42,747,562 N59I possibly damaging Het
Rnf135 T A 11: 80,194,011 S203R possibly damaging Het
Sall1 T A 8: 89,031,661 N605I probably benign Het
Scara3 C T 14: 65,931,154 R338H probably damaging Het
Slc25a14 T C X: 48,637,440 S152P probably benign Het
Strip1 A T 3: 107,620,255 F436I probably damaging Het
Tgfa T C 6: 86,271,421 L135P probably benign Het
Tgif1 T C 17: 70,844,947 Q170R possibly damaging Het
Tmc2 G A 2: 130,229,187 E279K probably damaging Het
Tnks G T 8: 34,848,670 N987K probably benign Het
Traf3ip3 T C 1: 193,194,368 E209G probably damaging Het
Vmn2r73 T A 7: 85,870,260 I497L probably benign Het
Wrn C A 8: 33,310,706 probably null Het
Zcchc24 T C 14: 25,719,662 I193V 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
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
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