Mutagenetix > Incidental Mutation

Incidental Mutation 'R8914:Pparg'

678812

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

068766-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8914 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115337912-115467360 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115440133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 236 (S236T)

Ref Sequence

ENSEMBL: ENSMUSP00000000450 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000000450
AA Change: S236T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000000450
Gene: ENSMUSG00000000440
AA Change: S236T

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 benign
Transcript: ENSMUST00000171644
AA Change: S206T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000131962
Gene: ENSMUSG00000000440
AA Change: S206T

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 benign
Transcript: ENSMUST00000203732
AA Change: S206T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000145525
Gene: ENSMUSG00000000440
AA Change: S206T

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

probably benign
Transcript: ENSMUST00000205213
AA Change: S206T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000144975
Gene: ENSMUSG00000000440
AA Change: S206T

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (62/62)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417H12Rik	C	T	7: 107,223,922 (GRCm39)	E51K	unknown	Het
Akr1c20	T	C	13: 4,561,215 (GRCm39)	D146G	probably benign	Het
Anapc4	T	A	5: 53,000,843 (GRCm39)	C205*	probably null	Het
Ap3s2	A	G	7: 79,564,911 (GRCm39)	I86T	probably benign	Het
Arih2	C	G	9: 108,488,938 (GRCm39)	R260P	probably damaging	Het
Atp9a	C	T	2: 168,479,420 (GRCm39)		probably null	Het
Bcl11b	C	A	12: 107,883,163 (GRCm39)	R384L	probably damaging	Het
Bltp3a	T	G	17: 28,105,887 (GRCm39)	D804E	possibly damaging	Het
Brca2	T	A	5: 150,465,208 (GRCm39)	D1657E	probably damaging	Het
Cabyr	C	A	18: 12,884,077 (GRCm39)	T188N	probably damaging	Het
Capn5	C	A	7: 97,784,997 (GRCm39)	W159L	probably damaging	Het
Ccdc121rt3	A	T	5: 112,503,087 (GRCm39)	Y206N	probably damaging	Het
Ccnl1	A	T	3: 65,854,080 (GRCm39)	S514T	unknown	Het
Cdk14	G	T	5: 5,086,515 (GRCm39)	H286Q	possibly damaging	Het
Cpsf3	T	A	12: 21,345,112 (GRCm39)	H141Q	probably damaging	Het
Ddx24	A	G	12: 103,390,665 (GRCm39)	S109P	possibly damaging	Het
Dnmt3a	A	T	12: 3,916,192 (GRCm39)	R126*	probably null	Het
Dpys	C	A	15: 39,720,619 (GRCm39)	R47L	probably benign	Het
Dync1li2	A	G	8: 105,152,090 (GRCm39)	V361A	probably benign	Het
Epha7	T	G	4: 28,963,892 (GRCm39)	D962E	probably damaging	Het
Erh	G	T	12: 80,684,282 (GRCm39)	A65E	probably benign	Het
Fyb2	T	C	4: 104,857,700 (GRCm39)	S626P	probably benign	Het
Gtpbp1	T	A	15: 79,600,393 (GRCm39)	V442D	probably damaging	Het
Hecw1	T	A	13: 14,422,188 (GRCm39)	I973F	probably damaging	Het
Igkv1-99	A	C	6: 68,519,340 (GRCm39)	K99T		Het
Igkv6-14	C	T	6: 70,412,180 (GRCm39)	V35I	probably benign	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Klk1b9	C	T	7: 43,628,925 (GRCm39)	T143I	possibly damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Mettl15	A	C	2: 108,967,625 (GRCm39)		probably benign	Het
Mki67	A	G	7: 135,299,595 (GRCm39)	V1813A		Het
Mrps30	A	G	13: 118,523,755 (GRCm39)	Y6H	possibly damaging	Het
Mthfd1	T	A	12: 76,329,710 (GRCm39)	I176K	probably benign	Het
Nckap5l	C	T	15: 99,323,761 (GRCm39)	G914D	probably damaging	Het
Nemf	C	A	12: 69,363,089 (GRCm39)	E930*	probably null	Het
Nuggc	G	A	14: 65,879,354 (GRCm39)	V705I	probably benign	Het
Omd	A	T	13: 49,745,718 (GRCm39)	K376M	probably damaging	Het
Or10a3n	T	C	7: 108,492,736 (GRCm39)	R298G	probably damaging	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Or4k42	C	A	2: 111,320,004 (GRCm39)	L166F	probably damaging	Het
Or51l14	T	A	7: 103,101,090 (GRCm39)	L182Q	probably damaging	Het
Or5g27	A	G	2: 85,410,056 (GRCm39)	T158A	possibly damaging	Het
Or5p68	A	G	7: 107,945,759 (GRCm39)	V143A	probably benign	Het
Or6c200-ps1	C	A	10: 128,871,372 (GRCm39)	M2I	probably benign	Het
Pi15	A	G	1: 17,691,962 (GRCm39)	Y217C	probably damaging	Het
Pou5f1	T	C	17: 35,821,371 (GRCm39)	S328P	probably benign	Het
Prss23	T	C	7: 89,159,854 (GRCm39)	T72A	probably benign	Het
Ptprb	C	A	10: 116,158,567 (GRCm39)	S546*	probably null	Het
Ranbp9	A	G	13: 43,578,560 (GRCm39)	I171T	probably benign	Het
Rap1gap2	A	T	11: 74,326,587 (GRCm39)	L160*	probably null	Het
Rfxap	T	C	3: 54,715,042 (GRCm39)	T19A	probably benign	Het
Sctr	T	A	1: 119,959,386 (GRCm39)	F95I	probably benign	Het
Sf3b3	T	A	8: 111,540,439 (GRCm39)	Q994L	probably benign	Het
Slfn9	A	T	11: 82,872,132 (GRCm39)	I868N	probably damaging	Het
Top3a	A	T	11: 60,631,405 (GRCm39)	C986S	probably damaging	Het
Trak1	T	A	9: 121,272,847 (GRCm39)	L245Q	unknown	Het
Trim27	A	G	13: 21,364,993 (GRCm39)	D110G	possibly damaging	Het
Ubxn2a	T	C	12: 4,930,754 (GRCm39)	D202G	probably benign	Het
Urb1	T	C	16: 90,607,122 (GRCm39)	K36R	probably damaging	Het
Usp34	A	G	11: 23,293,604 (GRCm39)	T252A		Het
Vmn1r73	C	A	7: 11,490,328 (GRCm39)	H49N	probably damaging	Het
Vmn2r117	C	T	17: 23,679,143 (GRCm39)	V694I	probably benign	Het
Vmn2r26	T	C	6: 124,038,983 (GRCm39)	F853L	probably benign	Het
Vmn2r55	A	T	7: 12,405,024 (GRCm39)	H126Q	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
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
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'- TCCTGTTTGCTAGCGGATCC -3'
(R):5'- TGTTTTGGACCTAGCCTGCC -3'

Sequencing Primer
(F):5'- CCTAACAGGATCGTATGTTGCC -3'
(R):5'- CTAGATTTTAACAGCCTGCAGC -3'

Posted On

2021-08-02