Mutagenetix > Incidental Mutation

Incidental Mutation 'R7599:Ppard'

587940

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

045673-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.918) question?

Stock #

R7599 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

28451715-28520446 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 28516091 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 105 (L105H)

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: L105H

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

SMART Domains

Protein: ENSMUSP00000002320
Gene: ENSMUSG00000002250
AA Change: L105H

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

probably damaging
Transcript: ENSMUST00000169040
AA Change: L105H

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

SMART Domains

Protein: ENSMUSP00000133077
Gene: ENSMUSG00000002250
AA Change: L105H

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: 100.0%
10x: 99.7%
20x: 99.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	C	5: 90,009,256 (GRCm39)	S136G	probably benign	Het
Apba3	T	A	10: 81,108,180 (GRCm39)	N445K	probably damaging	Het
Aqp6	A	G	15: 99,501,652 (GRCm39)	K237E	possibly damaging	Het
Arhgap23	A	G	11: 97,391,169 (GRCm39)	T1229A	probably benign	Het
Bpifb1	T	C	2: 154,056,071 (GRCm39)	I379T	probably damaging	Het
Bpnt2	G	A	4: 4,778,207 (GRCm39)	T177I	probably damaging	Het
Ccdc169	A	G	3: 55,047,530 (GRCm39)	D7G	probably damaging	Het
Cyp2f2	T	A	7: 26,830,784 (GRCm39)		probably null	Het
Daam2	T	A	17: 49,787,755 (GRCm39)	K453*	probably null	Het
Dennd4c	T	C	4: 86,729,849 (GRCm39)	L817P	probably damaging	Het
Efcab6	T	A	15: 83,755,189 (GRCm39)	R1376W	probably damaging	Het
Esrra	G	T	19: 6,891,214 (GRCm39)	A182E	possibly damaging	Het
Fam234b	T	A	6: 135,203,874 (GRCm39)	V392E	probably damaging	Het
Fanca	A	G	8: 123,997,999 (GRCm39)	V1229A	probably benign	Het
Fdps	G	T	3: 89,006,693 (GRCm39)	Q66K	probably benign	Het
Fer1l6	T	A	15: 58,499,438 (GRCm39)	D1269E	probably benign	Het
Foxred1	G	A	9: 35,116,932 (GRCm39)	R353W	probably damaging	Het
Gabrg2	C	T	11: 41,858,451 (GRCm39)	V226I	possibly damaging	Het
Gcnt2	C	A	13: 41,014,343 (GRCm39)	C171*	probably null	Het
Glyat	C	A	19: 12,617,172 (GRCm39)	A8E	probably damaging	Het
Golgb1	C	A	16: 36,695,758 (GRCm39)	R86S	unknown	Het
Hc	T	A	2: 34,940,431 (GRCm39)	T136S	probably damaging	Het
Hdac1	G	T	4: 129,411,259 (GRCm39)	S421*	probably null	Het
Hmcn2	G	T	2: 31,246,298 (GRCm39)	A756S	possibly damaging	Het
Igkv8-26	A	G	6: 70,170,571 (GRCm39)	N54S	probably benign	Het
Itgae	T	A	11: 73,012,786 (GRCm39)	V706E	possibly damaging	Het
Itgax	G	A	7: 127,747,262 (GRCm39)	V992M	probably damaging	Het
Klk10	A	G	7: 43,433,851 (GRCm39)	D221G	probably benign	Het
Klkb1	T	C	8: 45,731,150 (GRCm39)	I205V	probably benign	Het
Kpna2	T	C	11: 106,889,583 (GRCm39)	N8S	probably null	Het
L3mbtl1	A	C	2: 162,806,434 (GRCm39)	T442P	possibly damaging	Het
Lrp1b	C	T	2: 40,551,561 (GRCm39)	C4181Y		Het
Mcat	T	C	15: 83,431,872 (GRCm39)	Y332C	probably damaging	Het
Mecom	T	C	3: 30,010,534 (GRCm39)	D648G	probably damaging	Het
Mesp2	A	T	7: 79,460,717 (GRCm39)	D14V	probably damaging	Het
Mlh3	A	T	12: 85,314,973 (GRCm39)	Y404*	probably null	Het
Mterf3	A	T	13: 67,065,212 (GRCm39)	F230I	probably damaging	Het
Nrxn3	T	C	12: 89,478,832 (GRCm39)	V602A	probably benign	Het
Or4a74	T	A	2: 89,439,571 (GRCm39)	I292F	possibly damaging	Het
Plekhg6	A	G	6: 125,351,623 (GRCm39)	F209L	probably damaging	Het
Pmp22	C	A	11: 63,049,174 (GRCm39)	A139D	probably damaging	Het
Polr2e	T	C	10: 79,874,404 (GRCm39)	D34G	possibly damaging	Het
Ptpn14	T	A	1: 189,582,942 (GRCm39)	D596E	probably benign	Het
Ptprz1	C	T	6: 23,002,518 (GRCm39)	A1536V	not run	Het
Qng1	T	A	13: 58,529,649 (GRCm39)	H321L	probably damaging	Het
Rabgap1	TGGGG	TGGG	2: 37,392,908 (GRCm39)		probably null	Het
Retreg1	T	A	15: 25,971,727 (GRCm39)	D222E	probably benign	Het
Rmnd1	T	C	10: 4,363,404 (GRCm39)	K282R	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Sall3	C	T	18: 81,015,267 (GRCm39)	R887H	possibly damaging	Het
Samd3	A	G	10: 26,139,711 (GRCm39)	D281G	probably benign	Het
Scube1	T	A	15: 83,497,653 (GRCm39)	D766V	probably damaging	Het
Sec24b	TGC	TGCAGC	3: 129,834,460 (GRCm39)		probably benign	Het
Slc2a2	A	G	3: 28,752,166 (GRCm39)	M1V	probably null	Het
Slc39a2	A	T	14: 52,132,488 (GRCm39)	T144S	probably benign	Het
Slc5a9	T	C	4: 111,734,937 (GRCm39)	H619R	probably benign	Het
Slco4a1	T	C	2: 180,113,048 (GRCm39)	F427L	probably benign	Het
Snapc3	C	A	4: 83,336,073 (GRCm39)	Y28*	probably null	Het
St3gal6	C	T	16: 58,293,800 (GRCm39)	R243H	probably benign	Het
Stat2	T	A	10: 128,113,066 (GRCm39)	N119K	possibly damaging	Het
Syne2	G	C	12: 76,013,145 (GRCm39)	V2779L	probably benign	Het
Tacc1	T	A	8: 25,691,301 (GRCm39)	M1L	probably damaging	Het
Tbc1d32	A	T	10: 56,027,929 (GRCm39)	F724L	possibly damaging	Het
Ttc23l	A	G	15: 10,533,766 (GRCm39)	I259T	possibly damaging	Het
Ucn2	T	C	9: 108,815,292 (GRCm39)	I18T	probably benign	Het
Wdr35	G	C	12: 9,074,886 (GRCm39)	A1000P	probably benign	Het
Wnk1	C	A	6: 119,906,789 (GRCm39)	C244F	possibly damaging	Het
Zeb2	T	G	2: 44,884,625 (GRCm39)	D1022A	probably damaging	Het
Zfp26	A	T	9: 20,349,129 (GRCm39)	H478Q	probably damaging	Het
Zfp410	A	G	12: 84,378,630 (GRCm39)	K265R	probably benign	Het
Zfp575	T	C	7: 24,286,093 (GRCm39)	D21G	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
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
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

2019-10-24