Mutagenetix > Incidental Mutation

Incidental Mutation 'R5305:Ppard'

404533

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

042888-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.918) question?

Stock #

R5305 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28451715-28520446 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28517832 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 300 (D300G)

Ref Sequence

ENSEMBL: ENSMUSP00000002320 (fasta)

Gene Model

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

AlphaFold

P35396

Predicted Effect

probably damaging
Transcript: ENSMUST00000002320
AA Change: D300G

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

SMART Domains

Protein: ENSMUSP00000002320
Gene: ENSMUSG00000002250
AA Change: D300G

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 benign
Transcript: ENSMUST00000169040

SMART Domains

Protein: ENSMUSP00000133077
Gene: ENSMUSG00000002250

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

Meta Mutation Damage Score

0.7477

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

99% (67/68)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	G	A	15: 81,943,420 (GRCm39)	V11M	possibly damaging	Het
Acot8	A	G	2: 164,637,685 (GRCm39)	V179A	probably benign	Het
Actb	A	G	5: 142,889,985 (GRCm39)	I194T	probably benign	Het
Ap1g2	A	G	14: 55,336,533 (GRCm39)	V787A	probably benign	Het
Areg	G	T	5: 91,292,308 (GRCm39)	A203S	probably damaging	Het
Asb13	A	T	13: 3,693,479 (GRCm39)	D79V	probably damaging	Het
Atad2b	C	T	12: 5,015,855 (GRCm39)	T527I	probably damaging	Het
Auts2	T	G	5: 131,472,632 (GRCm39)		probably benign	Het
Ceacam3	T	A	7: 16,885,501 (GRCm39)	S35T	probably damaging	Het
Crebzf	T	C	7: 90,093,342 (GRCm39)		probably benign	Het
Cttnbp2	G	T	6: 18,381,097 (GRCm39)	N1366K	probably benign	Het
Cubn	C	A	2: 13,393,750 (GRCm39)	C1417F	probably damaging	Het
Dot1l	C	T	10: 80,626,627 (GRCm39)	P162S	probably benign	Het
Epc1	G	A	18: 6,490,690 (GRCm39)		probably benign	Het
Eps8l1	A	G	7: 4,480,895 (GRCm39)	S613G	possibly damaging	Het
Erich6	T	G	3: 58,532,537 (GRCm39)	I357L	probably benign	Het
Foxj3	T	A	4: 119,477,155 (GRCm39)	S288T	possibly damaging	Het
Gls2	T	G	10: 128,040,578 (GRCm39)	Y326*	probably null	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm7535	T	C	17: 18,132,061 (GRCm39)		probably benign	Het
Gxylt2	T	G	6: 100,764,179 (GRCm39)	L288R	probably damaging	Het
Kdm4a	T	C	4: 118,017,698 (GRCm39)	Y456C	probably damaging	Het
Mgat4c	T	A	10: 102,225,140 (GRCm39)	F451L	possibly damaging	Het
Mrpl20	G	A	4: 155,888,162 (GRCm39)	R17H	probably damaging	Het
Mtf2	A	G	5: 108,252,365 (GRCm39)	T465A	possibly damaging	Het
Mycbp2	A	C	14: 103,583,757 (GRCm39)	L66R	probably benign	Het
Nos1ap	T	A	1: 170,176,968 (GRCm39)	K145M	probably damaging	Het
Nr2e1	A	T	10: 42,447,483 (GRCm39)	Y176*	probably null	Het
Obscn	T	C	11: 58,903,541 (GRCm39)	T7628A	possibly damaging	Het
Or7a37	A	T	10: 78,806,390 (GRCm39)	K302N	possibly damaging	Het
Pitx2	T	G	3: 129,009,489 (GRCm39)	V129G	probably damaging	Het
Polr2e	A	G	10: 79,873,897 (GRCm39)		probably benign	Het
Ppp1r27	A	G	11: 120,441,743 (GRCm39)	V46A	probably benign	Het
Prex2	T	A	1: 11,177,902 (GRCm39)	V332E	probably damaging	Het
Prss30	T	G	17: 24,191,750 (GRCm39)	Y257S	probably benign	Het
Ptprd	T	C	4: 75,900,863 (GRCm39)	E1082G	probably damaging	Het
Rab3c	T	A	13: 110,317,611 (GRCm39)	R89S	probably damaging	Het
Rimbp2	A	G	5: 128,874,445 (GRCm39)	V389A	possibly damaging	Het
Rims1	T	A	1: 22,635,623 (GRCm39)	R119S	probably damaging	Het
Sema3b	T	C	9: 107,480,536 (GRCm39)	H137R	probably null	Het
Sf3b4	G	C	3: 96,080,958 (GRCm39)	A89P	probably damaging	Het
Sgta	T	A	10: 80,882,081 (GRCm39)	Q298L	probably damaging	Het
Skic3	G	A	13: 76,295,886 (GRCm39)	E1050K	possibly damaging	Het
Spag9	C	A	11: 93,959,838 (GRCm39)	D342E	probably damaging	Het
Sry	T	A	Y: 2,662,982 (GRCm39)	D226V	unknown	Het
Sv2a	A	G	3: 96,092,774 (GRCm39)	E158G	possibly damaging	Het
Sytl2	A	G	7: 90,031,071 (GRCm39)		probably benign	Het
Thbs3	T	A	3: 89,125,283 (GRCm39)		probably benign	Het
Top3a	A	T	11: 60,653,365 (GRCm39)	N56K	possibly damaging	Het
Tyk2	T	C	9: 21,020,677 (GRCm39)	D918G	probably damaging	Het
Uqcrh	A	G	4: 115,924,481 (GRCm39)		probably benign	Het
Vmn1r61	A	G	7: 5,613,814 (GRCm39)	S167P	probably damaging	Het
Wdr25	C	A	12: 108,992,366 (GRCm39)	H74N	probably damaging	Het
Zfp458	T	C	13: 67,404,382 (GRCm39)	N686D	probably benign	Het
Zfp574	T	A	7: 24,780,515 (GRCm39)	H512Q		Het
Zfp976	A	T	7: 42,262,902 (GRCm39)	Y312N	probably benign	Het
Zscan4c	G	A	7: 10,743,462 (GRCm39)	V354I	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
R1687:Ppard	UTSW	17	28,516,154 (GRCm39)	missense	probably damaging	1.00
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
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'- TCAGTGTGCACGTGTTCTAC -3'
(R):5'- ACACTGTCTGAGGTCAGGTTTG -3'

Sequencing Primer
(F):5'- GTGCACGTGTTCTACCGCTG -3'
(R):5'- CAGGTTTGGTCCCTGGCAG -3'

Posted On

2016-07-22