Mutagenetix > Incidental Mutation

Incidental Mutation 'R4941:Pparg'

383083

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

042539-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4941 (G1)

Quality Score

151

Status

Validated

Chromosome

Chromosomal Location

115337912-115467360 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115467071 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 478 (V478E)

Ref Sequence

ENSEMBL: ENSMUSP00000000450 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000000450
AA Change: V478E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000000450
Gene: ENSMUSG00000000440
AA Change: V478E

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: V448E

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131962
Gene: ENSMUSG00000000440
AA Change: V448E

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: V448E

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000145525
Gene: ENSMUSG00000000440
AA Change: V448E

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

Meta Mutation Damage Score

0.8565

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.4%
20x: 89.0%

Validation Efficiency

97% (112/116)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	T	A	15: 83,112,529 (GRCm39)	I85F	probably damaging	Het
Abcc6	T	A	7: 45,661,947 (GRCm39)	I435F	probably benign	Het
Adam3	T	C	8: 25,167,332 (GRCm39)		probably benign	Het
Adrb3	T	C	8: 27,717,450 (GRCm39)	Y333C	probably damaging	Het
Ago4	A	T	4: 126,419,847 (GRCm39)	D43E	probably benign	Het
Agt	T	A	8: 125,283,727 (GRCm39)	Q464L	probably benign	Het
Amdhd1	A	T	10: 93,367,463 (GRCm39)	D230E	probably damaging	Het
Aplf	A	G	6: 87,645,405 (GRCm39)	I33T	probably damaging	Het
Aplf	A	T	6: 87,623,331 (GRCm39)	N249K	probably benign	Het
Arap2	A	G	5: 62,906,821 (GRCm39)	M66T	probably benign	Het
Atf4	T	C	15: 80,140,434 (GRCm39)		probably benign	Het
Bahcc1	A	C	11: 120,177,491 (GRCm39)	H2068P	probably benign	Het
Bcor	C	T	X: 11,906,725 (GRCm39)	R1551Q	probably damaging	Het
Bltp1	A	C	3: 36,971,851 (GRCm39)	H528P	probably damaging	Het
Bltp1	G	A	3: 36,974,050 (GRCm39)	S600N	probably benign	Het
Catsper1	C	A	19: 5,391,466 (GRCm39)	A616D	possibly damaging	Het
Cdkn3	A	G	14: 47,007,320 (GRCm39)	D159G	possibly damaging	Het
Cep162	T	C	9: 87,108,022 (GRCm39)		probably benign	Het
Clca3a1	T	A	3: 144,721,414 (GRCm39)	I386L	probably damaging	Het
Cldn10	G	A	14: 119,025,725 (GRCm39)	G53S	possibly damaging	Het
Cmtm3	T	C	8: 105,070,460 (GRCm39)	L73P	probably damaging	Het
Cnksr3	A	C	10: 7,102,925 (GRCm39)	L149R	probably benign	Het
Cope	T	C	8: 70,755,584 (GRCm39)		probably null	Het
Cpa6	T	A	1: 10,479,562 (GRCm39)	M224L	probably benign	Het
Cyp2d41-ps	T	C	15: 82,666,154 (GRCm39)		noncoding transcript	Het
Ddx55	T	A	5: 124,706,779 (GRCm39)	L592*	probably null	Het
Deup1	T	C	9: 15,499,323 (GRCm39)	M333V	probably benign	Het
Eif4a1	T	C	11: 69,558,640 (GRCm39)		probably benign	Het
Eif4g3	A	C	4: 137,897,876 (GRCm39)	D1026A	probably damaging	Het
Eif5b	T	C	1: 38,090,280 (GRCm39)	V1153A	probably damaging	Het
Ercc8	G	T	13: 108,297,301 (GRCm39)		probably benign	Het
Fam227a	C	A	15: 79,524,204 (GRCm39)		probably null	Het
Fat1	A	G	8: 45,489,312 (GRCm39)	I3505V	probably benign	Het
Fat3	T	G	9: 16,286,448 (GRCm39)	E1025A	probably damaging	Het
Fat4	C	T	3: 39,011,601 (GRCm39)	R2234W	probably damaging	Het
Fer1l4	G	T	2: 155,887,009 (GRCm39)	F634L	probably damaging	Het
Fetub	G	A	16: 22,756,624 (GRCm39)	V162I	probably benign	Het
Fgd4	T	C	16: 16,302,402 (GRCm39)	Q51R	probably benign	Het
Fgfr2	T	C	7: 129,800,175 (GRCm39)	H140R	probably benign	Het
Flt3	T	A	5: 147,293,185 (GRCm39)		probably null	Het
Gabrb1	A	G	5: 72,294,121 (GRCm39)	N465S	probably damaging	Het
Gapdhs	T	C	7: 30,432,691 (GRCm39)	I206V	probably benign	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Glp2r	T	C	11: 67,637,529 (GRCm39)		probably null	Het
Gm4956	T	A	1: 21,368,306 (GRCm39)		noncoding transcript	Het
Gtf2a1l	A	T	17: 89,022,350 (GRCm39)	D447V	probably damaging	Het
Hsd3b5	A	G	3: 98,526,379 (GRCm39)	W356R	probably damaging	Het
Idh2	A	T	7: 79,745,847 (GRCm39)	V335D	probably damaging	Het
Isyna1	T	C	8: 71,048,146 (GRCm39)	I184T	probably damaging	Het
Kcnh2	A	G	5: 24,536,085 (GRCm39)	S320P	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Kpna6	A	G	4: 129,541,825 (GRCm39)	F524S	probably damaging	Het
Lap3	A	T	5: 45,663,539 (GRCm39)	M338L	probably benign	Het
Lins1	T	C	7: 66,359,198 (GRCm39)		probably benign	Het
Llgl1	C	T	11: 60,600,394 (GRCm39)	P581L	probably benign	Het
Lrrc43	A	G	5: 123,639,126 (GRCm39)	D385G	probably benign	Het
Maf	T	C	8: 116,433,532 (GRCm39)	D24G	unknown	Het
Nell1	T	C	7: 49,712,386 (GRCm39)	S69P	probably benign	Het
Nkapd1	G	T	9: 50,518,809 (GRCm39)	Q268K	probably benign	Het
Or13p4	C	T	4: 118,547,089 (GRCm39)	V187I	possibly damaging	Het
Or2h1	C	T	17: 37,404,484 (GRCm39)	G94E	probably damaging	Het
Or2j6	T	A	7: 139,980,792 (GRCm39)	M56L	probably benign	Het
Or51af1	T	C	7: 103,141,458 (GRCm39)	D209G	probably damaging	Het
Or5an10	A	G	19: 12,276,260 (GRCm39)	S79P	possibly damaging	Het
Or8g54	T	C	9: 39,707,160 (GRCm39)	M163T	possibly damaging	Het
Oxld1	T	C	11: 120,347,862 (GRCm39)	T112A	probably benign	Het
Parp14	T	C	16: 35,666,403 (GRCm39)	N1210S	probably benign	Het
Pcdhb10	C	A	18: 37,545,887 (GRCm39)	T321K	probably benign	Het
Pcdhb8	C	T	18: 37,489,059 (GRCm39)	L246F	probably benign	Het
Pcdhga1	T	A	18: 37,795,659 (GRCm39)	I221K	probably benign	Het
Pcdhga9	T	A	18: 37,871,185 (GRCm39)	V338E	probably damaging	Het
Pdcd11	T	C	19: 47,108,325 (GRCm39)	S1231P	probably damaging	Het
Pde6c	A	T	19: 38,140,013 (GRCm39)	L325F	probably damaging	Het
Pnpla7	T	A	2: 24,887,276 (GRCm39)		probably null	Het
Ppib	T	C	9: 65,967,672 (GRCm39)	V42A	probably benign	Het
Ppox	T	C	1: 171,105,166 (GRCm39)	M341V	probably damaging	Het
Proc	T	C	18: 32,258,166 (GRCm39)	K260E	possibly damaging	Het
Ptpro	C	T	6: 137,369,763 (GRCm39)	P525L	probably damaging	Het
Rnf14	C	A	18: 38,441,435 (GRCm39)	A275E	probably damaging	Het
Scnn1b	C	T	7: 121,511,231 (GRCm39)	P306L	probably damaging	Het
Sec14l5	A	G	16: 4,994,364 (GRCm39)	E386G	probably damaging	Het
Sftpa1	T	A	14: 40,854,509 (GRCm39)	I32N	probably damaging	Het
Slc26a5	A	G	5: 22,025,384 (GRCm39)	I408T	probably damaging	Het
Slc7a13	A	G	4: 19,841,467 (GRCm39)	Y438C	probably damaging	Het
Spire1	T	C	18: 67,652,384 (GRCm39)	E231G	possibly damaging	Het
Stab1	T	A	14: 30,873,528 (GRCm39)	I1014F	probably benign	Het
Steap2	T	C	5: 5,727,651 (GRCm39)	Y228C	probably damaging	Het
Tmem131l	T	C	3: 83,806,546 (GRCm39)	T1487A	probably benign	Het
Tmem171	A	G	13: 98,828,803 (GRCm39)	F116L	possibly damaging	Het
Tmem215	T	C	4: 40,474,520 (GRCm39)	V199A	probably damaging	Het
Tmem45a	T	C	16: 56,642,652 (GRCm39)	N173S	possibly damaging	Het
Uqcrc2	C	T	7: 120,242,301 (GRCm39)	R148C	probably benign	Het
Vmn2r116	A	G	17: 23,620,116 (GRCm39)	K617E	probably damaging	Het
Xrcc6	T	C	15: 81,924,013 (GRCm39)	L229P	probably damaging	Het
Yju2	A	G	17: 56,271,149 (GRCm39)	D97G	possibly damaging	Het
Zfp184	A	G	13: 22,133,891 (GRCm39)	D46G	probably damaging	Het
Zfp790	T	A	7: 29,528,916 (GRCm39)	C534S	possibly damaging	Het
Zfp990	A	T	4: 145,263,407 (GRCm39)	N135I	probably damaging	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
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'- AGGAGGTCTGACAAAGCCTC -3'
(R):5'- CAGAATGGGAGACATGCATTC -3'

Sequencing Primer
(F):5'- AGGTCTGACAAAGCCTCTTTTTG -3'
(R):5'- GAGACATGCATTCATTCTTTAAA -3'

Posted On

2016-04-27