Mutagenetix > Incidental Mutation

Incidental Mutation 'R4946:Pparg'

383408

Institutional Source

Beutler Lab

Gene Symbol

Pparg

Ensembl Gene

ENSMUSG00000000440

Gene Name

peroxisome proliferator activated receptor gamma

Synonyms

Nr1c3, PPARgamma2, PPARgamma, Ppar-gamma2, PPAR-gamma

MMRRC Submission

042543-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4946 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115337912-115467360 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115427989 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 159 (K159E)

Ref Sequence

ENSEMBL: ENSMUSP00000144975 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000450] [ENSMUST00000171644] [ENSMUST00000203732] [ENSMUST00000205213]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000000450
AA Change: K189E

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000000450
Gene: ENSMUSG00000000440
AA Change: K189E

Domain	Start	End	E-Value	Type
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: K159E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131962
Gene: ENSMUSG00000000440
AA Change: K159E

Domain	Start	End	E-Value	Type
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: K159E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000145525
Gene: ENSMUSG00000000440
AA Change: K159E

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000204889

Predicted Effect

probably damaging
Transcript: ENSMUST00000205213
AA Change: K159E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144975
Gene: ENSMUSG00000000440
AA Change: K159E

Domain	Start	End	E-Value	Type
Pfam:PPARgamma_N	1	78	7.1e-33	PFAM
ZnF_C4	106	176	1.1e-36	SMART

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.3%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	C	11: 109,977,300 (GRCm39)	D98G	probably damaging	Het
Adgre1	G	A	17: 57,750,918 (GRCm39)	V531I	probably benign	Het
Aldoart2	A	G	12: 55,612,801 (GRCm39)	Q242R	probably benign	Het
Ank2	A	T	3: 126,735,589 (GRCm39)		probably benign	Het
Ank3	C	T	10: 69,733,947 (GRCm39)	A737V	probably damaging	Het
Ankle2	A	G	5: 110,401,704 (GRCm39)	I789V	probably benign	Het
Ankrd13c	T	C	3: 157,711,410 (GRCm39)	V510A	probably damaging	Het
Arid1b	T	A	17: 5,393,118 (GRCm39)	M2216K	probably damaging	Het
Arrdc1	A	G	2: 24,815,860 (GRCm39)	V380A	probably benign	Het
B3galt1	C	A	2: 67,948,913 (GRCm39)	N209K	possibly damaging	Het
Cd300c2	A	T	11: 114,887,731 (GRCm39)	C224S	probably benign	Het
Cdk4	T	C	10: 126,900,759 (GRCm39)		probably null	Het
Cdk5rap1	T	C	2: 154,210,794 (GRCm39)	T115A	possibly damaging	Het
Clvs1	A	T	4: 9,281,831 (GRCm39)	R92*	probably null	Het
Cnga1	A	G	5: 72,762,107 (GRCm39)	V469A	probably damaging	Het
Ctns	A	G	11: 73,087,479 (GRCm39)	F16L	probably benign	Het
Dlg5	A	T	14: 24,204,429 (GRCm39)	C1299S	probably damaging	Het
Dnah3	T	A	7: 119,530,783 (GRCm39)	Y3690F	probably damaging	Het
Dnah5	A	G	15: 28,326,703 (GRCm39)	M1971V	probably damaging	Het
Dnah5	G	A	15: 28,388,050 (GRCm39)	V3170M	probably damaging	Het
Dpp8	T	C	9: 64,963,200 (GRCm39)	Y485H	probably benign	Het
Dsc2	T	C	18: 20,183,214 (GRCm39)	D68G	probably damaging	Het
Eeig2	A	G	3: 108,887,544 (GRCm39)	V240A	probably benign	Het
Elavl1	A	T	8: 4,351,752 (GRCm39)	D121E	probably benign	Het
Ermap	A	G	4: 119,040,505 (GRCm39)	V311A	probably damaging	Het
Fbxw11	C	T	11: 32,689,226 (GRCm39)	R437C	probably damaging	Het
Gas2l3	T	C	10: 89,249,634 (GRCm39)	M495V	probably benign	Het
Hacd1	C	T	2: 14,049,948 (GRCm39)		probably null	Het
Itgav	A	G	2: 83,619,327 (GRCm39)	R596G	probably benign	Het
Kars1	T	C	8: 112,728,352 (GRCm39)	H215R	possibly damaging	Het
Kif26a	G	A	12: 112,144,228 (GRCm39)	R1494H	probably damaging	Het
Klf12	G	A	14: 100,260,393 (GRCm39)	S112L	possibly damaging	Het
Krt77	T	C	15: 101,777,998 (GRCm39)	Y19C	unknown	Het
Lrrc4c	A	G	2: 97,460,834 (GRCm39)	T487A	probably benign	Het
Lrrn1	A	G	6: 107,545,851 (GRCm39)	M550V	probably benign	Het
Lsr	C	A	7: 30,657,634 (GRCm39)	R442L	probably benign	Het
Lysmd2	A	C	9: 75,542,728 (GRCm39)	T112P	probably damaging	Het
Mctp2	A	T	7: 71,909,017 (GRCm39)	S99T	probably benign	Het
Mettl4	A	G	17: 95,047,960 (GRCm39)	V227A	probably benign	Het
Mill2	T	A	7: 18,590,608 (GRCm39)		probably null	Het
Mpp3	T	C	11: 101,895,848 (GRCm39)	N476D	probably benign	Het
Mtmr6	C	T	14: 60,517,638 (GRCm39)	P83L	possibly damaging	Het
Myh3	T	C	11: 66,984,364 (GRCm39)	I1067T	probably benign	Het
Myh9	C	A	15: 77,657,540 (GRCm39)	Q1068H	probably damaging	Het
Narf	T	A	11: 121,141,179 (GRCm39)	H304Q	possibly damaging	Het
Nfatc2ip	G	T	7: 125,995,784 (GRCm39)	P35Q	possibly damaging	Het
Npas3	C	A	12: 54,112,618 (GRCm39)	P426Q	probably damaging	Het
Or10aa3	T	G	1: 173,878,400 (GRCm39)	S154A	possibly damaging	Het
Or4e1	G	A	14: 52,700,740 (GRCm39)	T242I	probably damaging	Het
Or4f4b	T	C	2: 111,314,311 (GRCm39)	Y207H	possibly damaging	Het
Or51i1	T	A	7: 103,671,219 (GRCm39)	Q102L	probably damaging	Het
Or5p5	A	G	7: 107,414,589 (GRCm39)	H266R	possibly damaging	Het
Pcdh10	A	T	3: 45,333,917 (GRCm39)	E77V	probably damaging	Het
Pcnt	C	T	10: 76,192,019 (GRCm39)	R2764Q	probably damaging	Het
Pgbd5	T	C	8: 125,097,324 (GRCm39)	D493G	possibly damaging	Het
Piezo2	G	T	18: 63,290,333 (GRCm39)	T142N	probably benign	Het
Plcb1	A	G	2: 135,187,015 (GRCm39)	I761V	probably benign	Het
Plekhg4	T	G	8: 106,108,628 (GRCm39)	D1196E	probably null	Het
Psmb1	A	T	17: 15,718,478 (GRCm39)	M16K	probably benign	Het
Ptprq	T	C	10: 107,361,595 (GRCm39)	I2139V	probably benign	Het
Ralgapb	T	A	2: 158,282,887 (GRCm39)	S239T	probably damaging	Het
Serpina11	A	G	12: 103,950,923 (GRCm39)	V266A	probably damaging	Het
Sf3a2	C	G	10: 80,639,947 (GRCm39)		probably benign	Het
Smim18	T	C	8: 34,232,587 (GRCm39)	T11A	possibly damaging	Het
Snx6	G	A	12: 54,817,528 (GRCm39)	T7I	probably damaging	Het
Srcin1	T	A	11: 97,442,768 (GRCm39)	D75V	probably damaging	Het
Srsf12	T	A	4: 33,231,174 (GRCm39)	S223T	probably damaging	Het
Taf4b	G	T	18: 14,946,599 (GRCm39)	C474F	probably damaging	Het
Tango6	T	A	8: 107,444,722 (GRCm39)	C542*	probably null	Het
Tbc1d24	A	G	17: 24,427,510 (GRCm39)	S151P	possibly damaging	Het
Tssk6	T	C	8: 70,355,714 (GRCm39)	S253P	probably benign	Het
Ttc39c	G	A	18: 12,857,999 (GRCm39)	W300*	probably null	Het
Ttc6	T	A	12: 57,689,926 (GRCm39)	W539R	probably benign	Het
Ttn	T	C	2: 76,582,770 (GRCm39)	T22708A	probably damaging	Het
Ttn	C	A	2: 76,749,053 (GRCm39)	E3999*	probably null	Het
Vill	T	G	9: 118,897,508 (GRCm39)	L261R	probably damaging	Het
Vmn1r20	T	C	6: 57,409,159 (GRCm39)	S162P	probably damaging	Het
Zfp516	T	C	18: 82,974,219 (GRCm39)	I139T	probably benign	Het

Other mutations in Pparg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00906:Pparg	APN	6	115,416,822 (GRCm39)	missense	probably damaging	0.99
IGL00938:Pparg	APN	6	115,440,100 (GRCm39)	missense	probably benign	0.09
IGL01303:Pparg	APN	6	115,449,915 (GRCm39)	missense	possibly damaging	0.89
IGL01454:Pparg	APN	6	115,416,900 (GRCm39)	missense	probably damaging	1.00
IGL01552:Pparg	APN	6	115,467,083 (GRCm39)	missense	probably benign	0.00
IGL02998:Pparg	APN	6	115,440,049 (GRCm39)	missense	probably benign	0.01
IGL03167:Pparg	APN	6	115,450,188 (GRCm39)	missense	probably damaging	1.00
IGL03179:Pparg	APN	6	115,416,833 (GRCm39)	missense	probably damaging	1.00
Energy	UTSW	6	115,428,005 (GRCm39)	missense	probably damaging	1.00
R1083:Pparg	UTSW	6	115,467,107 (GRCm39)	missense	probably damaging	0.99
R1569:Pparg	UTSW	6	115,416,960 (GRCm39)	missense	probably benign	0.14
R1620:Pparg	UTSW	6	115,450,242 (GRCm39)	missense	probably benign	0.01
R1850:Pparg	UTSW	6	115,427,941 (GRCm39)	missense	probably damaging	1.00
R2339:Pparg	UTSW	6	115,428,005 (GRCm39)	missense	probably damaging	1.00
R4429:Pparg	UTSW	6	115,416,984 (GRCm39)	missense	probably benign	0.09
R4941:Pparg	UTSW	6	115,467,071 (GRCm39)	missense	probably damaging	1.00
R5110:Pparg	UTSW	6	115,449,964 (GRCm39)	missense	probably damaging	1.00
R5523:Pparg	UTSW	6	115,467,032 (GRCm39)	missense	probably damaging	1.00
R6900:Pparg	UTSW	6	115,449,949 (GRCm39)	missense	possibly damaging	0.87
R6994:Pparg	UTSW	6	115,428,011 (GRCm39)	missense	probably benign	0.36
R7177:Pparg	UTSW	6	115,418,581 (GRCm39)	missense	probably benign	0.40
R7755:Pparg	UTSW	6	115,440,067 (GRCm39)	missense	probably damaging	1.00
R8103:Pparg	UTSW	6	115,450,102 (GRCm39)	missense	possibly damaging	0.91
R8496:Pparg	UTSW	6	115,440,112 (GRCm39)	missense	probably benign	0.00
R8914:Pparg	UTSW	6	115,440,133 (GRCm39)	missense	probably benign	0.00
R8953:Pparg	UTSW	6	115,418,507 (GRCm39)	missense	possibly damaging	0.86
X0064:Pparg	UTSW	6	115,416,875 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ATCCACTTTTGCTGATGTCCAAG -3'
(R):5'- TACACGAAGAAGCTCTCATCAGG -3'

Sequencing Primer
(F):5'- CTGATGTCCAAGTCAATGAGTGTC -3'
(R):5'- GAAGCTCTCATCAGGATGACTTTG -3'

Posted On

2016-04-27