Mutagenetix > Incidental Mutation

Incidental Mutation 'R7382:Ppara'

572825

Institutional Source

Beutler Lab

Gene Symbol

Ppara

Ensembl Gene

ENSMUSG00000022383

Gene Name

peroxisome proliferator activated receptor alpha

Synonyms

PPAR-alpha, Nr1c1, 4933429D07Rik, Ppar, PPARalpha

MMRRC Submission

045464-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7382 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85619184-85687020 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 85671429 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 110 (S110L)

Ref Sequence

ENSEMBL: ENSMUSP00000059719 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057979] [ENSMUST00000109422] [ENSMUST00000109423]

AlphaFold

P23204

Predicted Effect

probably damaging
Transcript: ENSMUST00000057979
AA Change: S110L

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

SMART Domains

Protein: ENSMUSP00000059719
Gene: ENSMUSG00000022383
AA Change: S110L

Domain	Start	End	E-Value	Type
low complexity region	34	51	N/A	INTRINSIC
low complexity region	73	89	N/A	INTRINSIC
ZnF_C4	99	169	2.27e-34	SMART
HOLI	278	437	2.8e-25	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000109422
AA Change: S110L

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

SMART Domains

Protein: ENSMUSP00000105049
Gene: ENSMUSG00000022383
AA Change: S110L

Domain	Start	End	E-Value	Type
low complexity region	34	51	N/A	INTRINSIC
low complexity region	73	89	N/A	INTRINSIC
ZnF_C4	99	169	2.27e-34	SMART
HOLI	278	437	2.8e-25	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000109423
AA Change: S110L

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

SMART Domains

Protein: ENSMUSP00000105050
Gene: ENSMUSG00000022383
AA Change: S110L

Domain	Start	End	E-Value	Type
low complexity region	34	51	N/A	INTRINSIC
low complexity region	73	89	N/A	INTRINSIC
ZnF_C4	99	169	2.27e-34	SMART
HOLI	278	437	2.8e-25	SMART

Meta Mutation Damage Score

0.9270

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (77/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Peroxisome proliferators include hypolipidemic drugs, herbicides, leukotriene antagonists, and plasticizers; this term arises because they induce an increase in the size and number of peroxisomes. Peroxisomes are subcellular organelles found in plants and animals that contain enzymes for respiration and for cholesterol and lipid metabolism. The action of peroxisome proliferators is thought to be mediated via specific receptors, called PPARs, which belong to the steroid hormone receptor superfamily. PPARs affect the expression of target genes involved in cell proliferation, cell differentiation and in immune and inflammation responses. Three closely related subtypes (alpha, beta/delta, and gamma) have been identified. This gene encodes the subtype PPAR-alpha, which is a nuclear transcription factor. Multiple alternatively spliced transcript variants have been described for this gene, although the full-length nature of only two has been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit loss of diurnal variation in hepatic fatty acid and cholesterol synthesis, increased hepatic lipid and gonadal adipose stores, impaired skin wound healing, and altered metabolic responses to starvation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	A	T	10: 78,903,103 (GRCm39)	H404Q	probably damaging	Het
Aadacl2fm2	T	A	3: 59,651,037 (GRCm39)	M53K	probably benign	Het
Adam8	T	A	7: 139,570,020 (GRCm39)	T82S	possibly damaging	Het
Adgrl2	T	G	3: 148,522,919 (GRCm39)	Q435P		Het
Ahr	A	T	12: 35,554,514 (GRCm39)	M535K	probably damaging	Het
Akap6	A	G	12: 53,188,954 (GRCm39)	I2123V	probably benign	Het
Ankrd2	G	T	19: 42,033,411 (GRCm39)	G318C		Het
Ap4e1	T	A	2: 126,850,822 (GRCm39)		probably null	Het
Atp8a2	G	A	14: 59,892,043 (GRCm39)	P1102S	probably benign	Het
Cacna2d4	C	T	6: 119,216,048 (GRCm39)	S105F	probably damaging	Het
Cad	C	A	5: 31,233,173 (GRCm39)	P1872T	probably benign	Het
Catsperg1	A	G	7: 28,904,269 (GRCm39)	F251L	probably benign	Het
Ccdc18	C	A	5: 108,286,873 (GRCm39)	Q136K	probably damaging	Het
Cd163	A	G	6: 124,288,271 (GRCm39)		probably null	Het
Cd209d	A	T	8: 3,927,965 (GRCm39)	Y46*	probably null	Het
Cdk5rap2	A	T	4: 70,208,262 (GRCm39)	M728K	probably benign	Het
Cdon	A	G	9: 35,389,944 (GRCm39)	D866G	probably damaging	Het
Cenpl	A	G	1: 160,906,031 (GRCm39)	H135R	probably benign	Het
Cep20	TTGTG	TTG	16: 14,118,009 (GRCm39)		probably null	Het
Clstn2	A	T	9: 97,681,451 (GRCm39)	L63*	probably null	Het
Cpeb4	A	G	11: 31,822,828 (GRCm39)	T181A	probably damaging	Het
Dlgap1	A	G	17: 71,094,169 (GRCm39)	E830G	probably damaging	Het
Endou	T	A	15: 97,616,807 (GRCm39)	K239*	probably null	Het
Ezh2	T	C	6: 47,528,770 (GRCm39)	N263S	possibly damaging	Het
Fbxw2	T	C	2: 34,697,314 (GRCm39)	D351G	probably benign	Het
Fer1l4	A	T	2: 155,862,669 (GRCm39)	Y1720*	probably null	Het
Fmo9	A	T	1: 166,491,229 (GRCm39)		probably null	Het
Frmpd1	T	A	4: 45,278,880 (GRCm39)	V535E	probably benign	Het
Fxr2	T	C	11: 69,532,382 (GRCm39)	V139A	probably benign	Het
Gpr180	T	G	14: 118,400,035 (GRCm39)	V401G	possibly damaging	Het
Heatr5b	G	T	17: 79,110,936 (GRCm39)	R971S	possibly damaging	Het
Igkv8-34	C	A	6: 70,021,103 (GRCm39)	A120S	probably benign	Het
Inpp5b	T	A	4: 124,645,370 (GRCm39)	H219Q	probably benign	Het
Itprid1	G	T	6: 55,955,404 (GRCm39)	G1004V	probably benign	Het
Kremen2	T	C	17: 23,962,526 (GRCm39)		probably null	Het
Mael	G	A	1: 166,029,167 (GRCm39)	P419S	probably benign	Het
Map1a	A	G	2: 121,121,266 (GRCm39)	T102A	probably damaging	Het
Mfsd2a	A	T	4: 122,845,916 (GRCm39)	I119N	possibly damaging	Het
Muc5b	T	C	7: 141,412,685 (GRCm39)	V1877A	unknown	Het
Myo5c	A	C	9: 75,211,332 (GRCm39)	S1733R	probably damaging	Het
Nelfcd	T	C	2: 174,265,176 (GRCm39)	V248A	probably benign	Het
Npc1	A	T	18: 12,334,763 (GRCm39)	I663N	probably damaging	Het
Olig3	T	A	10: 19,232,413 (GRCm39)	S13T	unknown	Het
Or1j17	G	T	2: 36,578,046 (GRCm39)	E11*	probably null	Het
Or8k39	T	C	2: 86,563,129 (GRCm39)	I276V	probably benign	Het
Piezo2	A	C	18: 63,150,590 (GRCm39)		probably null	Het
Pkd1l2	G	T	8: 117,781,610 (GRCm39)	L812M	possibly damaging	Het
Plcd1	G	A	9: 118,903,759 (GRCm39)	T387I	probably damaging	Het
Ranbp9	C	T	13: 43,578,590 (GRCm39)	R161Q	probably damaging	Het
Rufy2	G	T	10: 62,833,748 (GRCm39)	R270L	probably benign	Het
Septin12	C	T	16: 4,806,346 (GRCm39)	E272K	probably damaging	Het
Sgms1	T	C	19: 32,137,182 (GRCm39)	E128G	possibly damaging	Het
Sh3bgr	G	A	16: 96,007,093 (GRCm39)	S21N	probably benign	Het
Sil1	A	T	18: 35,458,466 (GRCm39)	D176E	probably benign	Het
Slc13a2	A	T	11: 78,295,621 (GRCm39)	Y82N	probably damaging	Het
Slc41a1	C	T	1: 131,774,370 (GRCm39)	P479L	probably damaging	Het
Smarca4	A	G	9: 21,570,229 (GRCm39)	K744R	probably damaging	Het
Stxbp1	T	C	2: 32,688,180 (GRCm39)	D495G	probably damaging	Het
Sugp2	T	C	8: 70,695,494 (GRCm39)	S156P	probably benign	Het
Syt3	A	T	7: 44,042,170 (GRCm39)	D343V	probably damaging	Het
Tbl3	G	T	17: 24,924,265 (GRCm39)	T164N	probably benign	Het
Tbpl2	A	T	2: 23,977,326 (GRCm39)		probably null	Het
Tcf7l2	T	A	19: 55,915,172 (GRCm39)	W461R	unknown	Het
Tmprss11c	A	T	5: 86,379,723 (GRCm39)	F395Y	probably benign	Het
Tnc	A	T	4: 63,932,280 (GRCm39)	Y711*	probably null	Het
Tnpo2	G	A	8: 85,776,748 (GRCm39)	R485H	probably damaging	Het
Ttc41	A	G	10: 86,612,374 (GRCm39)	K1216E	probably damaging	Het
Ube2q2	A	C	9: 55,070,298 (GRCm39)	D80A	probably damaging	Het
Ube2u	A	T	4: 100,389,379 (GRCm39)	K227*	probably null	Het
Uhrf2	T	C	19: 30,048,788 (GRCm39)	Y265H	possibly damaging	Het
Vmn1r208	T	G	13: 22,956,756 (GRCm39)	Y247S	probably damaging	Het
Vmn2r27	A	G	6: 124,174,276 (GRCm39)	C525R	probably damaging	Het
Vps13a	T	C	19: 16,596,849 (GRCm39)	T3090A	probably damaging	Het
Whrn	T	C	4: 63,336,573 (GRCm39)	K674R	probably benign	Het
Zfp202	G	T	9: 40,122,801 (GRCm39)	R521I	probably damaging	Het
Zfp433	T	C	10: 81,556,659 (GRCm39)	V387A	probably benign	Het
Zpld1	T	C	16: 55,067,046 (GRCm39)		probably null	Het

Other mutations in Ppara

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Ppara	APN	15	85,685,268 (GRCm39)	missense	probably benign	0.00
IGL00754:Ppara	APN	15	85,661,843 (GRCm39)	missense	probably damaging	0.99
IGL01409:Ppara	APN	15	85,661,844 (GRCm39)	missense	probably damaging	0.98
IGL02080:Ppara	APN	15	85,673,220 (GRCm39)	missense	possibly damaging	0.74
IGL02442:Ppara	APN	15	85,685,344 (GRCm39)	missense	probably benign	0.19
IGL02810:Ppara	APN	15	85,661,878 (GRCm39)	missense	probably damaging	0.99
IGL02852:Ppara	APN	15	85,682,079 (GRCm39)	missense	probably benign	0.00
R0333:Ppara	UTSW	15	85,675,161 (GRCm39)	missense	probably damaging	1.00
R0551:Ppara	UTSW	15	85,671,306 (GRCm39)	splice site	probably benign
R0883:Ppara	UTSW	15	85,682,372 (GRCm39)	missense	probably damaging	1.00
R1125:Ppara	UTSW	15	85,673,256 (GRCm39)	missense	possibly damaging	0.71
R1189:Ppara	UTSW	15	85,682,365 (GRCm39)	missense	probably benign	0.04
R1233:Ppara	UTSW	15	85,682,222 (GRCm39)	missense	probably damaging	1.00
R1582:Ppara	UTSW	15	85,682,429 (GRCm39)	missense	possibly damaging	0.69
R1755:Ppara	UTSW	15	85,682,180 (GRCm39)	missense	probably benign	0.14
R1913:Ppara	UTSW	15	85,685,300 (GRCm39)	missense	probably damaging	1.00
R2163:Ppara	UTSW	15	85,685,247 (GRCm39)	missense	probably benign	0.04
R4570:Ppara	UTSW	15	85,671,398 (GRCm39)	missense	probably benign	0.02
R4980:Ppara	UTSW	15	85,671,434 (GRCm39)	missense	probably damaging	0.99
R5117:Ppara	UTSW	15	85,661,962 (GRCm39)	missense	probably benign	0.00
R5749:Ppara	UTSW	15	85,673,229 (GRCm39)	missense	probably benign	0.35
R6199:Ppara	UTSW	15	85,671,434 (GRCm39)	missense	probably damaging	0.99
R6221:Ppara	UTSW	15	85,661,881 (GRCm39)	missense	probably benign	0.02
R6624:Ppara	UTSW	15	85,675,237 (GRCm39)	missense	probably benign	0.24
R7534:Ppara	UTSW	15	85,661,927 (GRCm39)	missense	probably benign
R7629:Ppara	UTSW	15	85,682,392 (GRCm39)	missense	probably damaging	0.98
R8171:Ppara	UTSW	15	85,682,077 (GRCm39)	missense	probably benign
R8848:Ppara	UTSW	15	85,673,188 (GRCm39)	missense	possibly damaging	0.93
R9378:Ppara	UTSW	15	85,661,837 (GRCm39)	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- AACCATGGGCAGTGTACAGC -3'
(R):5'- GAGTCAACCTGCCACAGAAG -3'

Sequencing Primer
(F):5'- CCCAAAGATCTGATTCTGTCATGGG -3'
(R):5'- TGCCACAGAAGCCAGTTCTCTG -3'

Posted On

2019-09-13