Mutagenetix > Incidental Mutation

Incidental Mutation 'R1687:Ppard'

189460

Institutional Source

Beutler Lab

Gene Symbol

Ppard

Ensembl Gene

ENSMUSG00000002250

Gene Name

peroxisome proliferator activator receptor delta

Synonyms

PPAR-delta, Pparb/d, NUC1, Pparb, Peroxisome proliferator-activated receptor beta, PPARdelta/beta, Nr1c2

MMRRC Submission

039720-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.933) question?

Stock #

R1687 (G1)

Quality Score

127

Status

Not validated

Chromosome

Chromosomal Location

28451715-28520446 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28516154 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 126 (Y126C)

Ref Sequence

ENSEMBL: ENSMUSP00000133077 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002320] [ENSMUST00000169040]

AlphaFold

P35396

Predicted Effect

probably damaging
Transcript: ENSMUST00000002320
AA Change: Y126C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000002320
Gene: ENSMUSG00000002250
AA Change: Y126C

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
ZnF_C4	70	140	1.58e-33	SMART
Blast:HOLI	183	208	1e-6	BLAST
HOLI	250	409	1.36e-23	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123020

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142226

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166744

Predicted Effect

probably damaging
Transcript: ENSMUST00000169040
AA Change: Y126C

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

SMART Domains

Protein: ENSMUSP00000133077
Gene: ENSMUSG00000002250
AA Change: Y126C

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
ZnF_C4	70	140	1.58e-33	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peroxisome proliferator-activated receptor (PPAR) family. PPARs are nuclear hormone receptors that bind peroxisome proliferators and control the size and number of peroxisomes produced by cells. PPARs mediate a variety of biological processes, and may be involved in the development of several chronic diseases, including diabetes, obesity, atherosclerosis, and cancer. This protein is a potent inhibitor of ligand-induced transcription activity of PPAR alpha and PPAR gamma. It may function as an integrator of transcription repression and nuclear receptor signaling. The expression of this gene is found to be elevated in colorectal cancer cells. The elevated expression can be repressed by adenomatosis polyposis coli (APC), a tumor suppressor protein related to APC/beta-catenin signaling pathway. Knockout studies in mice suggested the role of this protein in myelination of the corpus callosum, lipid metabolism, and epidermal cell proliferation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a number of different targeted mutations show variable prenatal lethality and a range of phenotypes such as placental, brain, skin, hair follicle, adipose and lipid homeostasis abnormalities, growth retardation, reduced fertility, andincreased incidence of tumors/induced tumors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,184,714 (GRCm39)	F931I	probably benign	Het
Alox15	T	A	11: 70,240,744 (GRCm39)	H212L	probably benign	Het
Arhgap42	A	T	9: 9,035,538 (GRCm39)	V268D	probably benign	Het
Armc9	A	G	1: 86,084,677 (GRCm39)	M1V	probably null	Het
Brca1	C	T	11: 101,380,666 (GRCm39)	C1789Y	probably benign	Het
Cacng4	A	G	11: 107,627,585 (GRCm39)	V138A	probably benign	Het
Camsap1	A	G	2: 25,829,627 (GRCm39)	F699S	probably damaging	Het
Ccm2	A	G	11: 6,535,118 (GRCm39)	R67G	probably damaging	Het
Cdk16	G	A	X: 20,562,898 (GRCm39)		probably null	Het
Cep85	T	C	4: 133,875,324 (GRCm39)	H546R	probably benign	Het
Cfap54	T	C	10: 92,768,502 (GRCm39)	D207G	probably damaging	Het
Cldn9	G	T	17: 23,902,050 (GRCm39)	R192S	probably benign	Het
Crybb3	A	G	5: 113,227,633 (GRCm39)	S63P	probably damaging	Het
Cux1	A	G	5: 136,341,523 (GRCm39)	L615P	probably damaging	Het
Dctn3	A	G	4: 41,715,407 (GRCm39)	Y154H	probably damaging	Het
Depdc5	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	5: 33,067,751 (GRCm39)		probably benign	Het
Dnah3	A	T	7: 119,645,009 (GRCm39)		probably null	Het
Eif1ad2	A	G	12: 87,786,488 (GRCm39)	D133G	unknown	Het
Eml6	G	A	11: 29,783,187 (GRCm39)	H565Y	probably damaging	Het
Ephb6	T	C	6: 41,594,300 (GRCm39)	V610A	probably benign	Het
Fam234a	T	C	17: 26,434,282 (GRCm39)	Y333C	probably damaging	Het
Fbln1	G	A	15: 85,111,307 (GRCm39)	V154I	probably benign	Het
Frem2	A	T	3: 53,561,373 (GRCm39)	W1045R	probably benign	Het
Fubp1	A	G	3: 151,933,838 (GRCm39)		probably benign	Het
Gja3	T	A	14: 57,274,333 (GRCm39)	N13I	probably damaging	Het
Gpr20	C	A	15: 73,567,751 (GRCm39)	V213L	probably benign	Het
Grk5	T	C	19: 61,065,221 (GRCm39)	I295T	probably damaging	Het
Gucy1b1	A	G	3: 81,945,349 (GRCm39)	F430L	probably damaging	Het
Gzmk	T	A	13: 113,310,462 (GRCm39)	I119L	probably benign	Het
Hadh	T	C	3: 131,038,898 (GRCm39)	I153V	probably benign	Het
Hsfy2	T	C	1: 56,676,012 (GRCm39)	Y175C	probably damaging	Het
Hspa5	T	C	2: 34,665,836 (GRCm39)	I560T	probably benign	Het
Igdcc4	T	C	9: 65,038,945 (GRCm39)	V863A	probably damaging	Het
Il22ra2	A	G	10: 19,508,620 (GRCm39)	D216G	probably benign	Het
Klc2	G	A	19: 5,161,682 (GRCm39)	P303S	probably damaging	Het
Lama5	C	T	2: 179,835,859 (GRCm39)	V1192I	probably benign	Het
Mon2	A	G	10: 122,862,029 (GRCm39)	S772P	probably damaging	Het
Mphosph8	T	A	14: 56,909,935 (GRCm39)	L96Q	probably damaging	Het
Mzf1	C	A	7: 12,786,698 (GRCm39)	R124L	possibly damaging	Het
Nckap1	A	G	2: 80,350,929 (GRCm39)	I726T	probably damaging	Het
Ndnf	A	T	6: 65,680,407 (GRCm39)	T229S	probably benign	Het
Npas3	A	T	12: 54,095,658 (GRCm39)		probably null	Het
Nrap	C	T	19: 56,343,961 (GRCm39)	E729K	probably damaging	Het
Nsun2	T	A	13: 69,775,716 (GRCm39)	F387I	probably damaging	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Pabpc1l	C	T	2: 163,886,226 (GRCm39)	T452M	probably benign	Het
Pcdh10	T	C	3: 45,334,450 (GRCm39)	Y255H	probably damaging	Het
Pdcd6ip	A	T	9: 113,529,087 (GRCm39)	Y72N	probably damaging	Het
Pglyrp1	A	T	7: 18,618,629 (GRCm39)		probably benign	Het
Pkp2	T	C	16: 16,086,573 (GRCm39)		probably null	Het
Prkcq	T	C	2: 11,295,344 (GRCm39)	Y598H	probably damaging	Het
Rhobtb1	A	G	10: 69,106,109 (GRCm39)	T287A	probably damaging	Het
Sema4b	T	C	7: 79,869,010 (GRCm39)	Y361H	probably damaging	Het
Slfn9	A	T	11: 82,872,983 (GRCm39)	I640N	probably damaging	Het
Smurf2	C	A	11: 106,726,896 (GRCm39)		probably null	Het
Spag5	T	C	11: 78,195,755 (GRCm39)	V354A	probably benign	Het
Sptb	T	C	12: 76,650,473 (GRCm39)	D1748G	possibly damaging	Het
St6galnac5	C	A	3: 152,686,887 (GRCm39)	L22F	probably benign	Het
Sugp2	T	C	8: 70,695,284 (GRCm39)	S86P	probably damaging	Het
Tnk1	T	C	11: 69,747,299 (GRCm39)	I111V	possibly damaging	Het
Tnni3k	T	A	3: 154,645,263 (GRCm39)	I541F	possibly damaging	Het
Trim36	G	T	18: 46,321,724 (GRCm39)	H108N	possibly damaging	Het
Ttn	T	C	2: 76,701,251 (GRCm39)		probably benign	Het
Usp28	T	A	9: 48,935,317 (GRCm39)	S89R	probably benign	Het
Vmn2r121	T	C	X: 123,042,488 (GRCm39)	D223G	probably benign	Het
Vmn2r65	T	A	7: 84,590,026 (GRCm39)	Y630F	probably benign	Het
Washc2	T	A	6: 116,233,673 (GRCm39)	S900T	probably benign	Het
Wdr72	A	G	9: 74,117,481 (GRCm39)	N731S	probably benign	Het
Xrra1	T	A	7: 99,525,451 (GRCm39)	F123L	probably damaging	Het
Zfp648	A	G	1: 154,079,988 (GRCm39)	D49G	probably benign	Het

Other mutations in Ppard

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02002:Ppard	APN	17	28,517,877 (GRCm39)	missense	probably damaging	1.00
IGL02023:Ppard	APN	17	28,517,871 (GRCm39)	missense	probably benign
IGL03027:Ppard	APN	17	28,518,765 (GRCm39)	missense	possibly damaging	0.68
R1785:Ppard	UTSW	17	28,517,455 (GRCm39)	critical splice donor site	probably null
R1791:Ppard	UTSW	17	28,505,348 (GRCm39)	missense	unknown
R1832:Ppard	UTSW	17	28,516,084 (GRCm39)	missense	probably benign	0.01
R2062:Ppard	UTSW	17	28,518,663 (GRCm39)	missense	probably damaging	1.00
R4732:Ppard	UTSW	17	28,505,417 (GRCm39)	missense	probably benign
R4733:Ppard	UTSW	17	28,505,417 (GRCm39)	missense	probably benign
R4801:Ppard	UTSW	17	28,505,348 (GRCm39)	missense	unknown
R4802:Ppard	UTSW	17	28,505,348 (GRCm39)	missense	unknown
R4803:Ppard	UTSW	17	28,505,348 (GRCm39)	missense	unknown
R5252:Ppard	UTSW	17	28,517,822 (GRCm39)	missense	probably benign
R5305:Ppard	UTSW	17	28,517,832 (GRCm39)	missense	probably damaging	1.00
R6572:Ppard	UTSW	17	28,516,093 (GRCm39)	nonsense	probably null
R7060:Ppard	UTSW	17	28,517,886 (GRCm39)	missense	probably benign	0.00
R7098:Ppard	UTSW	17	28,517,787 (GRCm39)	missense	possibly damaging	0.94
R7506:Ppard	UTSW	17	28,517,735 (GRCm39)	missense	possibly damaging	0.76
R7599:Ppard	UTSW	17	28,516,091 (GRCm39)	missense	probably damaging	1.00
R8774:Ppard	UTSW	17	28,517,864 (GRCm39)	missense	possibly damaging	0.58
R8774-TAIL:Ppard	UTSW	17	28,517,864 (GRCm39)	missense	possibly damaging	0.58
R9127:Ppard	UTSW	17	28,505,349 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTTGTGACCTTACGTGCCACTGGG -3'
(R):5'- TGGGCTTGTCACTTGAAGCAGAAC -3'

Sequencing Primer
(F):5'- CGTGCCACTGGGCTCTG -3'
(R):5'- GGCATTTGTATCAGCCATCAACAG -3'

Posted On

2014-05-14