Mutagenetix > Incidental Mutation

Incidental Mutation 'R1850:Pparg'

207998

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

039874-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1850 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115337912-115467360 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115427941 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 143 (Y143N)

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: Y173N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000000450
Gene: ENSMUSG00000000440
AA Change: Y173N

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: Y143N

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

SMART Domains

Protein: ENSMUSP00000131962
Gene: ENSMUSG00000000440
AA Change: Y143N

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: Y143N

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

SMART Domains

Protein: ENSMUSP00000145525
Gene: ENSMUSG00000000440
AA Change: Y143N

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: Y143N

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

SMART Domains

Protein: ENSMUSP00000144975
Gene: ENSMUSG00000000440
AA Change: Y143N

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

Meta Mutation Damage Score

0.9184

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.8%

Validation Efficiency

99% (67/68)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam28	T	A	14: 68,876,644 (GRCm39)	Q202L	probably benign	Het
Adgb	C	A	10: 10,318,246 (GRCm39)	V199F	probably damaging	Het
Aff1	G	T	5: 103,981,773 (GRCm39)	R645S	probably damaging	Het
Aoc1	C	T	6: 48,882,202 (GRCm39)	S48F	probably benign	Het
Atf6	A	T	1: 170,646,855 (GRCm39)	N339K	probably damaging	Het
Bpifb3	C	G	2: 153,771,264 (GRCm39)	S392C	possibly damaging	Het
Camk1d	T	C	2: 5,366,826 (GRCm39)	M130V	probably benign	Het
Ces1a	T	A	8: 93,753,954 (GRCm39)	N350Y	probably damaging	Het
Cfap57	G	A	4: 118,457,091 (GRCm39)	R453C	probably damaging	Het
Chd4	T	A	6: 125,098,619 (GRCm39)	N1532K	probably damaging	Het
Chd5	T	C	4: 152,454,990 (GRCm39)	L824P	probably damaging	Het
Ckap5	G	A	2: 91,426,058 (GRCm39)	R1306H	probably damaging	Het
Crybg1	A	G	10: 43,873,670 (GRCm39)	F1146S	probably damaging	Het
Dusp12	G	A	1: 170,708,198 (GRCm39)	T173M	probably benign	Het
Dync2h1	T	C	9: 7,001,448 (GRCm39)	T3854A	probably benign	Het
Echdc1	A	T	10: 29,220,599 (GRCm39)	I252F	probably damaging	Het
Emc1	A	T	4: 139,086,684 (GRCm39)		probably benign	Het
Fbn2	C	A	18: 58,172,377 (GRCm39)		probably benign	Het
Fsip2	T	A	2: 82,814,933 (GRCm39)	N3555K	possibly damaging	Het
Gabra1	T	A	11: 42,070,403 (GRCm39)	T20S	probably benign	Het
Igf1	A	C	10: 87,697,236 (GRCm39)	T2P	possibly damaging	Het
Insyn1	A	T	9: 58,406,392 (GRCm39)	M101L	probably benign	Het
Jcad	C	A	18: 4,675,730 (GRCm39)	T1164N	possibly damaging	Het
Kalrn	A	T	16: 33,796,293 (GRCm39)	S2830T	probably damaging	Het
Lepr	C	A	4: 101,590,620 (GRCm39)	A66E	possibly damaging	Het
Lmntd1	T	A	6: 145,359,206 (GRCm39)	M315L	probably benign	Het
Lrch3	A	G	16: 32,807,163 (GRCm39)	T479A	probably benign	Het
Macroh2a1	T	C	13: 56,244,052 (GRCm39)		probably benign	Het
Matr3	A	G	18: 35,715,110 (GRCm39)	N237D	probably damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Mtif2	A	G	11: 29,490,683 (GRCm39)	I462M	probably benign	Het
Nrip1	T	C	16: 76,090,232 (GRCm39)	I442V	probably damaging	Het
Or11g25	G	A	14: 50,723,055 (GRCm39)	A47T	probably benign	Het
Or6b2b	T	A	1: 92,419,124 (GRCm39)	M118L	possibly damaging	Het
Or8k35	A	T	2: 86,424,448 (GRCm39)	C241*	probably null	Het
Otogl	T	A	10: 107,713,925 (GRCm39)	Y498F	probably damaging	Het
Pbx3	A	T	2: 34,066,832 (GRCm39)	F351I	probably benign	Het
Pcdh18	T	C	3: 49,710,854 (GRCm39)	T154A	probably benign	Het
Pex5l	A	T	3: 33,005,025 (GRCm39)		probably null	Het
Plec	T	C	15: 76,072,432 (GRCm39)	I718V	probably benign	Het
Prl2c5	A	G	13: 13,360,377 (GRCm39)	I12V	probably benign	Het
Rcor3	T	A	1: 191,804,411 (GRCm39)	Q246L	probably benign	Het
Rnf214	A	T	9: 45,780,746 (GRCm39)		probably benign	Het
S1pr5	A	T	9: 21,155,425 (GRCm39)	S334T	probably benign	Het
Scg3	C	T	9: 75,589,449 (GRCm39)	S35N	possibly damaging	Het
Septin5	A	T	16: 18,443,960 (GRCm39)	L19Q	probably damaging	Het
Serpinb7	T	C	1: 107,356,025 (GRCm39)	F16S	probably damaging	Het
Sipa1l3	A	T	7: 29,038,551 (GRCm39)	S365R	probably damaging	Het
Slc27a1	T	C	8: 72,033,347 (GRCm39)		probably null	Het
Slc2a10	C	A	2: 165,357,133 (GRCm39)	H264Q	probably benign	Het
Slc9a3	A	G	13: 74,309,889 (GRCm39)	I526V	probably benign	Het
Smchd1	T	C	17: 71,696,766 (GRCm39)	D1203G	probably damaging	Het
Spata6l	T	C	19: 28,916,571 (GRCm39)		probably null	Het
Sult1b1	A	G	5: 87,668,700 (GRCm39)	W181R	probably damaging	Het
Supt6	A	G	11: 78,110,703 (GRCm39)		probably benign	Het
Tcf12	C	A	9: 71,775,497 (GRCm39)	A418S	probably damaging	Het
Tesk1	C	T	4: 43,443,576 (GRCm39)	R48C	probably damaging	Het
Tiam2	A	G	17: 3,487,510 (GRCm39)	Q677R	probably damaging	Het
Tspan8	C	T	10: 115,669,130 (GRCm39)	A55V	probably damaging	Het
Txndc11	T	C	16: 10,906,268 (GRCm39)	N421D	probably damaging	Het
Vmn1r201	A	G	13: 22,658,801 (GRCm39)	N5S	probably benign	Het
Vmn2r120	T	A	17: 57,832,826 (GRCm39)	I118L	probably benign	Het
Vps13b	A	T	15: 35,675,105 (GRCm39)		probably benign	Het
Wdfy3	A	G	5: 102,042,865 (GRCm39)	V1962A	probably damaging	Het
Zswim8	C	T	14: 20,760,815 (GRCm39)	R107*	probably null	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
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
R4946:Pparg	UTSW	6	115,427,989 (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'- GCAGAAGTTCATCTATGTGAACAGG -3'
(R):5'- TCCTAGTGCCTACTGACCTG -3'

Sequencing Primer
(F):5'- TGGCCTGAAGCTCATCAGTTAGAC -3'
(R):5'- TACTGACCTGGACCTGGCATTG -3'

Posted On

2014-06-23