Mutagenetix > Incidental Mutation

Incidental Mutation 'R4570:Ppara'

342098

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

041794-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4570 (G1)

Quality Score

208

Status

Validated

Chromosome

Chromosomal Location

85619184-85687020 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85671398 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 100 (I100V)

Ref Sequence

ENSEMBL: ENSMUSP00000105050 (fasta)

Gene Model

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

AlphaFold

P23204

Predicted Effect

probably benign
Transcript: ENSMUST00000057979
AA Change: I100V

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000059719
Gene: ENSMUSG00000022383
AA Change: I100V

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 benign
Transcript: ENSMUST00000109422
AA Change: I100V

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000105049
Gene: ENSMUSG00000022383
AA Change: I100V

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 benign
Transcript: ENSMUST00000109423
AA Change: I100V

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000105050
Gene: ENSMUSG00000022383
AA Change: I100V

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

0.0994

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

99% (78/79)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	G	10: 79,842,528 (GRCm39)	D1154G	probably damaging	Het
Acsl5	T	A	19: 55,280,206 (GRCm39)	I493N	probably damaging	Het
Adgrf5	T	A	17: 43,756,006 (GRCm39)	S450T	probably benign	Het
Ak2	T	C	4: 128,895,960 (GRCm39)	V79A	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Arfgef2	C	A	2: 166,698,458 (GRCm39)	Q643K	probably damaging	Het
Asap3	A	G	4: 135,967,496 (GRCm39)	D605G	probably damaging	Het
Ccr5	C	T	9: 123,924,912 (GRCm39)	Q172*	probably null	Het
Cpxm2	T	C	7: 131,745,435 (GRCm39)	D130G	probably benign	Het
Cspg4b	T	A	13: 113,454,725 (GRCm39)	V257D	probably damaging	Het
Cxcl12	T	C	6: 117,145,633 (GRCm39)	V6A	probably benign	Het
Cyp19a1	G	A	9: 54,100,607 (GRCm39)	P27S	probably benign	Het
Dmxl1	T	C	18: 49,985,427 (GRCm39)	Y225H	probably damaging	Het
Dzip1l	A	T	9: 99,529,221 (GRCm39)	K317*	probably null	Het
Edil3	A	G	13: 89,280,016 (GRCm39)		probably benign	Het
Enpep	A	T	3: 129,075,197 (GRCm39)	I707K	possibly damaging	Het
Fcrlb	A	G	1: 170,740,189 (GRCm39)		probably null	Het
Flt1	C	T	5: 147,531,423 (GRCm39)	A847T	probably damaging	Het
Fsd2	T	C	7: 81,209,518 (GRCm39)	D108G	probably benign	Het
Gemin6	C	T	17: 80,535,498 (GRCm39)	R153*	probably null	Het
Gldc	T	A	19: 30,151,839 (GRCm39)	M112L	probably benign	Het
Gm10267	C	T	18: 44,289,492 (GRCm39)	M79I	probably benign	Het
Gm10803	A	G	2: 93,394,597 (GRCm39)	Y123C	unknown	Het
Gm28040	C	A	1: 133,257,119 (GRCm39)		probably benign	Het
Gm8674	T	A	13: 50,056,570 (GRCm39)		noncoding transcript	Het
Gprasp1	C	T	X: 134,703,592 (GRCm39)	R1262C	probably damaging	Het
Hba-a2	T	C	11: 32,247,200 (GRCm39)	Y141H	probably damaging	Het
Hmbox1	T	A	14: 65,061,111 (GRCm39)	I388F	possibly damaging	Het
Hs6st1	G	T	1: 36,142,628 (GRCm39)	V188L	possibly damaging	Het
Ipmk	T	G	10: 71,208,569 (GRCm39)	H118Q	probably benign	Het
Jhy	A	G	9: 40,822,389 (GRCm39)	I583T	probably benign	Het
Kcna2	A	G	3: 107,012,111 (GRCm39)	I231V	probably benign	Het
Kcnh7	T	C	2: 62,667,439 (GRCm39)	T367A	possibly damaging	Het
Kcp	A	T	6: 29,491,847 (GRCm39)	C197*	probably null	Het
Klra2	C	A	6: 131,220,900 (GRCm39)	C54F	probably damaging	Het
Lcn9	T	C	2: 25,713,591 (GRCm39)	L39P	probably benign	Het
Lct	T	C	1: 128,227,641 (GRCm39)	N1284S	probably benign	Het
Map6	T	G	7: 98,985,763 (GRCm39)	S556A	possibly damaging	Het
Mdn1	C	A	4: 32,741,812 (GRCm39)	T3861K	probably damaging	Het
Mrps12	A	G	7: 28,439,388 (GRCm39)	L109P	probably damaging	Het
Mucl3	T	C	17: 35,948,883 (GRCm39)	T239A	possibly damaging	Het
Mybphl	G	A	3: 108,272,347 (GRCm39)	C12Y	possibly damaging	Het
Nek9	T	C	12: 85,367,508 (GRCm39)	K388E	probably damaging	Het
Nvl	A	G	1: 180,971,647 (GRCm39)	V9A	probably benign	Het
Obscn	T	C	11: 58,897,654 (GRCm39)		probably null	Het
Or2h2	T	C	17: 37,396,471 (GRCm39)	I195M	probably damaging	Het
Pik3c3	T	A	18: 30,423,603 (GRCm39)	I233N	possibly damaging	Het
Pkhd1	T	A	1: 20,451,747 (GRCm39)	I2183F	probably damaging	Het
Rem2	T	C	14: 54,715,116 (GRCm39)	S98P	probably damaging	Het
Rpl5-ps2	G	T	2: 154,546,156 (GRCm39)		noncoding transcript	Het
Scmh1	T	A	4: 120,385,495 (GRCm39)	H623Q	probably damaging	Het
Scn9a	A	G	2: 66,313,902 (GRCm39)	S1939P	possibly damaging	Het
Slc6a13	T	C	6: 121,313,101 (GRCm39)		probably null	Het
Slc7a4	G	A	16: 17,392,141 (GRCm39)	T431I	probably benign	Het
Snupn	A	G	9: 56,885,346 (GRCm39)	E217G	probably benign	Het
Spopl	T	A	2: 23,427,497 (GRCm39)	K212*	probably null	Het
Strn	T	A	17: 78,984,801 (GRCm39)	T281S	possibly damaging	Het
Supt3	T	A	17: 45,352,116 (GRCm39)	L265*	probably null	Het
Taf5l	G	A	8: 124,724,289 (GRCm39)	T510M	probably damaging	Het
Tapbp	C	A	17: 34,145,427 (GRCm39)	D415E	probably damaging	Het
Tarbp1	A	T	8: 127,178,972 (GRCm39)	D702E	probably benign	Het
Tfap2c	C	A	2: 172,399,247 (GRCm39)	P473Q	probably damaging	Het
Tnc	T	C	4: 63,913,909 (GRCm39)	N1301S	probably damaging	Het
Trim33	A	G	3: 103,237,481 (GRCm39)	Q179R	probably damaging	Het
Txnrd2	A	G	16: 18,287,554 (GRCm39)	N335S	probably benign	Het
Uggt1	T	A	1: 36,189,154 (GRCm39)	D1444V	probably damaging	Het
Ugt3a1	T	C	15: 9,338,807 (GRCm39)	L57P	probably benign	Het
Vmn2r6	A	T	3: 64,467,068 (GRCm39)	W144R	probably benign	Het
Vmn2r98	T	A	17: 19,286,354 (GRCm39)	M284K	probably benign	Het
Zfp558	A	T	9: 18,367,799 (GRCm39)	C330S	possibly damaging	Het
Zfp703	T	C	8: 27,468,981 (GRCm39)	V215A	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
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
R9378:Ppara	UTSW	15	85,661,837 (GRCm39)	missense	possibly damaging	0.62

Predicted Primers

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

Sequencing Primer
(F):5'- TCAAGAGAGGCACCTGCTC -3'
(R):5'- TAGGCCTAGGAGTGCTGAC -3'

Posted On

2015-09-24