Mutagenetix > Incidental Mutation

Incidental Mutation 'R9378:Ppara'

709813

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9378 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85619184-85687020 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85661837 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 26 (E26V)

Ref Sequence

ENSEMBL: ENSMUSP00000059719 (fasta)

Gene Model

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

AlphaFold

P23204

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057979
AA Change: E26V

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000059719
Gene: ENSMUSG00000022383
AA Change: E26V

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

possibly damaging
Transcript: ENSMUST00000109422
AA Change: E26V

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105049
Gene: ENSMUSG00000022383
AA Change: E26V

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

possibly damaging
Transcript: ENSMUST00000109423
AA Change: E26V

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105050
Gene: ENSMUSG00000022383
AA Change: E26V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,471,735 (GRCm39)	K1047E	possibly damaging	Het
Aadacl2fm1	A	G	3: 59,839,110 (GRCm39)	T11A	possibly damaging	Het
Abca14	A	T	7: 119,807,191 (GRCm39)	Y79F	possibly damaging	Het
Abca2	T	A	2: 25,329,094 (GRCm39)	M978K	probably benign	Het
Adamts3	A	T	5: 89,848,269 (GRCm39)	C684*	probably null	Het
Adnp2	T	C	18: 80,172,637 (GRCm39)	T591A	probably benign	Het
Aff4	A	T	11: 53,263,306 (GRCm39)	T109S	probably damaging	Het
Agmo	A	G	12: 37,293,720 (GRCm39)	I48V	probably benign	Het
Appl1	G	A	14: 26,649,784 (GRCm39)	R581*	probably null	Het
Armc9	A	T	1: 86,189,766 (GRCm39)	M714L	probably benign	Het
Atp6v0d2	T	A	4: 19,922,377 (GRCm39)	T41S	probably benign	Het
Bin1	A	T	18: 32,552,921 (GRCm39)	Q182L	probably damaging	Het
Bmp10	A	G	6: 87,410,684 (GRCm39)	D159G	probably benign	Het
Bsn	G	A	9: 107,984,854 (GRCm39)	P295S	possibly damaging	Het
Cbx6	A	G	15: 79,712,606 (GRCm39)	S274P	probably damaging	Het
Cdc20b	A	G	13: 113,192,631 (GRCm39)	K108R	probably benign	Het
Ces1d	T	A	8: 93,912,724 (GRCm39)	N238I	probably damaging	Het
Col7a1	C	T	9: 108,787,708 (GRCm39)	Q663*	probably null	Het
Cpsf3	T	C	12: 21,358,039 (GRCm39)	I517T	possibly damaging	Het
Cyp2a5	C	A	7: 26,539,879 (GRCm39)	T309N	probably damaging	Het
Cyp2d40	A	G	15: 82,645,802 (GRCm39)	F68L	possibly damaging	Het
Cyp7b1	A	T	3: 18,150,837 (GRCm39)	W301R	probably damaging	Het
Dnah6	T	A	6: 73,189,513 (GRCm39)	N45I	probably benign	Het
Dnah7a	A	T	1: 53,621,776 (GRCm39)	H1116Q	probably benign	Het
Dntt	A	G	19: 41,027,356 (GRCm39)	N141S	probably benign	Het
Fbxl13	T	C	5: 21,790,201 (GRCm39)	N281D	probably damaging	Het
Frem2	A	T	3: 53,559,410 (GRCm39)	L1699H	probably damaging	Het
Gabrr3	T	C	16: 59,282,037 (GRCm39)	V464A	possibly damaging	Het
Gdap1	T	A	1: 17,227,353 (GRCm39)	I160N	probably damaging	Het
Hnrnpll	C	A	17: 80,369,291 (GRCm39)	R44L	unknown	Het
Hsp90ab1	T	C	17: 45,881,680 (GRCm39)	E187G	probably damaging	Het
Ighm	T	A	12: 113,386,210 (GRCm39)	T47S		Het
Itgb7	A	C	15: 102,135,831 (GRCm39)		probably null	Het
Kif16b	A	T	2: 142,461,738 (GRCm39)	C1293*	probably null	Het
Klf11	C	T	12: 24,705,043 (GRCm39)	R166C	probably benign	Het
Lca5l	T	A	16: 95,977,212 (GRCm39)	Q198L	probably damaging	Het
Lnx2	A	T	5: 146,961,180 (GRCm39)	M584K	probably benign	Het
Lpp	A	T	16: 24,540,737 (GRCm39)	M1L	probably benign	Het
Lrig3	A	G	10: 125,832,953 (GRCm39)	T276A	probably damaging	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Megf8	A	T	7: 25,039,840 (GRCm39)		probably null	Het
Myh1	A	C	11: 67,093,259 (GRCm39)	T117P	probably damaging	Het
Neb	C	A	2: 52,134,113 (GRCm39)	R3290L	possibly damaging	Het
Neb	A	C	2: 52,137,304 (GRCm39)	V220G		Het
Nktr	A	T	9: 121,577,264 (GRCm39)	K444I	probably damaging	Het
Nol11	A	T	11: 107,064,505 (GRCm39)	M483K	probably benign	Het
Npy1r	C	A	8: 67,156,861 (GRCm39)	P94T	probably damaging	Het
Nsmaf	T	C	4: 6,440,940 (GRCm39)	T37A	probably benign	Het
Or10ad1b	A	G	15: 98,124,920 (GRCm39)	L204P	possibly damaging	Het
Or2y3	G	A	17: 38,393,056 (GRCm39)	A271V	possibly damaging	Het
Or4c119	T	C	2: 88,987,399 (GRCm39)	N40S	probably damaging	Het
Or51v8	A	T	7: 103,319,389 (GRCm39)	M283K	probably damaging	Het
Or5w14	C	A	2: 87,541,423 (GRCm39)	V276F	possibly damaging	Het
Or8a1b	A	G	9: 37,623,473 (GRCm39)	I34T	probably damaging	Het
Or8b37	G	A	9: 37,958,775 (GRCm39)	V86M	possibly damaging	Het
Palld	C	T	8: 61,969,691 (GRCm39)	R1211H	unknown	Het
Pcdha3	A	G	18: 37,080,284 (GRCm39)	D342G	probably damaging	Het
Pclo	G	A	5: 14,815,877 (GRCm39)	V1266I		Het
Pcnx4	T	C	12: 72,602,664 (GRCm39)	Y309H	probably damaging	Het
Pde8a	C	T	7: 80,982,619 (GRCm39)	T746I	probably damaging	Het
Pdzrn3	T	G	6: 101,127,772 (GRCm39)	K965Q	probably damaging	Het
Phldb1	G	A	9: 44,615,425 (GRCm39)	A225V	probably benign	Het
Pierce1	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,356,122 (GRCm39)		probably benign	Het
Plat	A	G	8: 23,265,599 (GRCm39)	Y214C	probably damaging	Het
Plppr1	T	A	4: 49,325,627 (GRCm39)	C274*	probably null	Het
Poglut1	A	G	16: 38,347,133 (GRCm39)	F345L	possibly damaging	Het
Ppcdc	A	T	9: 57,327,571 (GRCm39)	W79R	probably damaging	Het
Prdm1	C	T	10: 44,316,150 (GRCm39)	C662Y	probably damaging	Het
Sgms2	G	A	3: 131,136,011 (GRCm39)		probably benign	Het
Slc31a1	T	A	4: 62,306,843 (GRCm39)	M133K	probably damaging	Het
Smg1	G	A	7: 117,777,998 (GRCm39)	Q1309*	probably null	Het
Sos1	T	C	17: 80,761,239 (GRCm39)	I152M	probably damaging	Het
Stk4	A	T	2: 163,952,136 (GRCm39)		probably benign	Het
Syne1	T	G	10: 5,200,954 (GRCm39)	N3538T	probably damaging	Het
Tbc1d16	A	G	11: 119,099,666 (GRCm39)	F236S	probably damaging	Het
Tgs1	T	A	4: 3,595,475 (GRCm39)	M548K	probably benign	Het
Twf1	G	A	15: 94,483,336 (GRCm39)	T124I	probably damaging	Het
Tyro3	G	A	2: 119,642,648 (GRCm39)	G611R	probably damaging	Het
Unc13b	T	A	4: 43,173,282 (GRCm39)	I1370K	unknown	Het
Usp40	A	G	1: 87,885,032 (GRCm39)	W939R	probably damaging	Het
Vamp8	A	T	6: 72,362,554 (GRCm39)	V82E	probably damaging	Het
Vmn2r17	A	G	5: 109,575,732 (GRCm39)	H201R	possibly damaging	Het
Whrn	T	C	4: 63,350,079 (GRCm39)	H546R	probably benign	Het
Yeats2	T	C	16: 20,033,228 (GRCm39)	V1036A	probably benign	Het
Zfp352	T	G	4: 90,112,575 (GRCm39)	N238K	probably benign	Het
Zfp36l3	TCCAGGGGCGAGGGCAGCCCCAGGAGCAAGGGCCGCCCTAGGAATGAGGGCCGCCCCAGG	TCCAGG	X: 52,776,521 (GRCm39)		probably benign	Het
Zfp462	T	A	4: 55,011,510 (GRCm39)	S1159T	probably benign	Het
Zscan4-ps1	A	T	7: 10,800,192 (GRCm39)	H232Q	probably benign	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
R7382:Ppara	UTSW	15	85,671,429 (GRCm39)	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- GCCACTGCTGAGATTTGAGC -3'
(R):5'- TACCAGAAGTTACGTGGTGAG -3'

Sequencing Primer
(F):5'- CCACTGCTGAGATTTGAGCTTAGAC -3'
(R):5'- TCACTCTGTAGACCAAGCTGG -3'

Posted On

2022-04-18