Mutagenetix > Incidental Mutation

Incidental Mutation 'R6572:Ppard'

526302

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

044696-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.918) question?

Stock #

R6572 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28451715-28520446 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 28516093 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 106 (E106*)

Ref Sequence

ENSEMBL: ENSMUSP00000133077 (fasta)

Gene Model

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

AlphaFold

P35396

Predicted Effect

probably null
Transcript: ENSMUST00000002320
AA Change: E106*

SMART Domains

Protein: ENSMUSP00000002320
Gene: ENSMUSG00000002250
AA Change: E106*

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 null
Transcript: ENSMUST00000169040
AA Change: E106*

SMART Domains

Protein: ENSMUSP00000133077
Gene: ENSMUSG00000002250
AA Change: E106*

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

97% (62/64)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	C	T	15: 37,425,961 (GRCm39)	Q34*	probably null	Het
Adamts3	T	A	5: 90,009,468 (GRCm39)	H65L	possibly damaging	Het
Ago2	A	G	15: 72,998,826 (GRCm39)	V257A	probably benign	Het
Ahnak	A	G	19: 8,985,340 (GRCm39)	K2208R	probably damaging	Het
Apc2	C	T	10: 80,147,613 (GRCm39)	S860L	probably damaging	Het
Arhgap18	A	G	10: 26,722,412 (GRCm39)		probably null	Het
Arhgap33	T	C	7: 30,226,635 (GRCm39)	E524G	probably damaging	Het
Ascc3	C	T	10: 50,566,343 (GRCm39)	Q763*	probably null	Het
Atg2a	T	C	19: 6,304,695 (GRCm39)	L1184P	probably damaging	Het
Baiap2l1	A	G	5: 144,223,112 (GRCm39)	L75P	probably damaging	Het
Btbd17	A	T	11: 114,683,046 (GRCm39)	L222Q	probably damaging	Het
Chst13	G	T	6: 90,286,588 (GRCm39)	R125S	probably benign	Het
Cpsf1	CCCCTGCATGAGGCAGGTCCC	CCCC	15: 76,481,655 (GRCm39)		probably null	Het
Cracr2a	T	C	6: 127,585,715 (GRCm39)		probably null	Het
Dchs1	T	A	7: 105,408,013 (GRCm39)	T1940S	possibly damaging	Het
Ddit4l	G	T	3: 137,332,111 (GRCm39)	R159L	probably benign	Het
Dock3	A	G	9: 106,866,674 (GRCm39)	Y679H	probably damaging	Het
Dyrk4	T	G	6: 126,874,201 (GRCm39)	I130L	probably benign	Het
Eml2	T	C	7: 18,930,539 (GRCm39)	V373A	possibly damaging	Het
Entrep1	A	T	19: 23,962,082 (GRCm39)	M307K	possibly damaging	Het
Ephb1	A	G	9: 101,944,097 (GRCm39)	F312L	probably benign	Het
Fndc9	A	T	11: 46,128,708 (GRCm39)	I76F	probably damaging	Het
Frk	G	A	10: 34,459,963 (GRCm39)	R186K	probably benign	Het
Gpatch3	G	T	4: 133,302,191 (GRCm39)	G41C	probably damaging	Het
Greb1l	T	A	18: 10,522,131 (GRCm39)	H633Q	probably benign	Het
Gstt4	T	A	10: 75,650,954 (GRCm39)	T223S	probably damaging	Het
Hpd	C	T	5: 123,318,739 (GRCm39)	E60K	probably benign	Het
Inpp5d	C	T	1: 87,623,118 (GRCm39)	P403S	probably damaging	Het
Klk1b9	T	A	7: 43,629,159 (GRCm39)	I189K	probably benign	Het
Kmt2e	A	T	5: 23,702,579 (GRCm39)	H239L	possibly damaging	Het
Lrriq3	A	G	3: 154,887,312 (GRCm39)	D344G	probably benign	Het
Neb	A	G	2: 52,168,859 (GRCm39)	I1892T	probably damaging	Het
Neto2	A	T	8: 86,397,033 (GRCm39)	I73N	possibly damaging	Het
Nipal3	A	T	4: 135,174,564 (GRCm39)	S396T	probably benign	Het
Or1e35	A	G	11: 73,797,629 (GRCm39)	S230P	possibly damaging	Het
Or51q1c	T	A	7: 103,648,391 (GRCm39)		probably null	Het
Phf20l1	T	A	15: 66,481,396 (GRCm39)	V264D	probably damaging	Het
Pigs	A	G	11: 78,230,190 (GRCm39)	Y319C	probably damaging	Het
Pkd2l2	T	C	18: 34,571,824 (GRCm39)	Y608H	probably damaging	Het
Pramel11	C	T	4: 143,621,943 (GRCm39)	V471I	possibly damaging	Het
Pramel16	A	G	4: 143,676,262 (GRCm39)	S281P	probably benign	Het
Psenen	T	C	7: 30,261,773 (GRCm39)	T48A	probably benign	Het
Ralgps2	A	T	1: 156,651,620 (GRCm39)		probably null	Het
Ripk4	T	A	16: 97,547,105 (GRCm39)	R323*	probably null	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Scgb2b24	T	A	7: 33,437,902 (GRCm39)	E68D	probably damaging	Het
Setx	A	G	2: 29,063,706 (GRCm39)	D2334G	possibly damaging	Het
Sh3bp4	A	G	1: 89,072,643 (GRCm39)	D497G	possibly damaging	Het
Smarca2	A	T	19: 26,656,573 (GRCm39)	I850F	possibly damaging	Het
Smyd1	A	G	6: 71,202,396 (GRCm39)	Y270H	probably damaging	Het
Spidr	T	A	16: 15,730,380 (GRCm39)		probably null	Het
Srms	T	C	2: 180,854,450 (GRCm39)	D39G	probably benign	Het
Trpc2	T	A	7: 101,739,213 (GRCm39)	I528N	probably damaging	Het
Tshr	A	G	12: 91,505,134 (GRCm39)	I691V	probably benign	Het
Urb1	A	C	16: 90,584,302 (GRCm39)	V560G	probably benign	Het
Usp37	A	G	1: 74,534,941 (GRCm39)	S2P	possibly damaging	Het
Vmn1r60	G	A	7: 5,547,599 (GRCm39)	S167F	probably benign	Het
Vmn2r89	G	A	14: 51,693,450 (GRCm39)	V267I	probably damaging	Het
Washc3	T	A	10: 88,049,568 (GRCm39)	D63E	probably benign	Het
Wdr89	A	G	12: 75,680,159 (GRCm39)	S32P	probably damaging	Het
Zfp157	T	C	5: 138,455,313 (GRCm39)	S504P	possibly damaging	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
R5305:Ppard	UTSW	17	28,517,832 (GRCm39)	missense	probably damaging	1.00
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'- TCAATTCCCAGTGCCTACATGG -3'
(R):5'- ACAGAATGGGACCCTGGGTTAG -3'

Sequencing Primer
(F):5'- CTACATGGCTGCTCAAAACC -3'
(R):5'- ACCCTGGGTTAGCTGTGC -3'

Posted On

2018-06-22