Mutagenetix > Incidental Mutation

Incidental Mutation 'R1913:Ppara'

214614

Institutional Source

Beutler Lab

Gene Symbol

Ppara

Ensembl Gene

ENSMUSG00000022383

Gene Name

peroxisome proliferator activated receptor alpha

Synonyms

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

MMRRC Submission

039931-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1913 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85734983-85802819 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85801099 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 416 (H416Q)

Ref Sequence

ENSEMBL: ENSMUSP00000105050 (fasta)

Gene Model

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

AlphaFold

P23204

Predicted Effect

probably damaging
Transcript: ENSMUST00000057979
AA Change: H416Q

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

SMART Domains

Protein: ENSMUSP00000059719
Gene: ENSMUSG00000022383
AA Change: H416Q

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: H416Q

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

SMART Domains

Protein: ENSMUSP00000105049
Gene: ENSMUSG00000022383
AA Change: H416Q

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: H416Q

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

SMART Domains

Protein: ENSMUSP00000105050
Gene: ENSMUSG00000022383
AA Change: H416Q

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: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.4%

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	T	G	5: 9,266,275	L2R	probably damaging	Het
Abca16	A	T	7: 120,541,240	I1588F	probably benign	Het
Abcc2	A	T	19: 43,807,244	T480S	probably benign	Het
Acnat1	A	G	4: 49,447,498	I361T	probably damaging	Het
Adamts10	A	T	17: 33,549,555	H869L	probably benign	Het
AF366264	T	A	8: 13,837,143	Q316L	probably benign	Het
Agpat5	T	C	8: 18,879,613	C253R	probably benign	Het
Agtrap	T	A	4: 148,083,977	H15L	probably damaging	Het
Ahnak	T	A	19: 9,007,922	V2190E	probably damaging	Het
Alx4	A	G	2: 93,675,387	E278G	probably damaging	Het
Amz2	T	C	11: 109,428,871	S28P	probably damaging	Het
Atr	T	A	9: 95,866,733	Y444N	probably benign	Het
Brdt	T	C	5: 107,348,613	I197T	probably benign	Het
Ccser1	G	T	6: 62,379,894	S772I	probably damaging	Het
Cdh16	T	C	8: 104,616,468	H657R	probably benign	Het
Ceacam5	A	T	7: 17,759,577	K842*	probably null	Het
Cep120	G	A	18: 53,723,286	T353I	probably benign	Het
Chrnb1	T	C	11: 69,793,584	N164S	possibly damaging	Het
Cse1l	T	C	2: 166,922,191	F123L	probably damaging	Het
Cul7	T	A	17: 46,663,190	L1467H	probably damaging	Het
Dcx	G	C	X: 143,923,103	L231V	probably damaging	Het
Dnah12	T	C	14: 26,792,264		probably null	Het
Dnah2	A	T	11: 69,464,930	M2227K	probably damaging	Het
Dnajc30	G	A	5: 135,064,332	A28T	probably benign	Het
Dnm1l	T	C	16: 16,329,966	T306A	probably benign	Het
Enpp3	C	A	10: 24,776,771	E763*	probably null	Het
Esyt3	T	C	9: 99,320,311	S516G	probably benign	Het
Exoc3	T	C	13: 74,182,316	Q498R	probably damaging	Het
Fbn2	T	A	18: 58,061,742	N1449I	probably damaging	Het
Fgb	T	C	3: 83,044,980	D194G	probably benign	Het
Fgd3	T	C	13: 49,263,848	D713G	possibly damaging	Het
Foxb1	T	A	9: 69,760,101	Y49F	possibly damaging	Het
Fpr3	A	G	17: 17,971,408	I314V	probably damaging	Het
Gfod1	A	T	13: 43,303,445	I18N	probably damaging	Het
Gm11492	T	C	11: 87,567,012	S71P	probably benign	Het
Gm5407	T	C	16: 49,296,920		noncoding transcript	Het
Gm7534	A	G	4: 134,192,675		probably null	Het
Gpr89	A	G	3: 96,875,633	F334L	possibly damaging	Het
Gucy2d	G	T	7: 98,443,847	V144F	probably benign	Het
H2-Bl	T	A	17: 36,081,016	K237M	probably damaging	Het
H2-M10.5	C	A	17: 36,774,768	P273H	probably damaging	Het
Hcn2	A	G	10: 79,730,943	M485V	probably benign	Het
Helz2	G	T	2: 181,233,750	S1650R	probably damaging	Het
Ifnar2	T	C	16: 91,404,170	V433A	probably benign	Het
Igsf21	T	A	4: 140,107,312	Y83F	probably benign	Het
Kcnk18	A	G	19: 59,235,058	I212V	possibly damaging	Het
Kcns2	T	C	15: 34,839,709	I406T	probably damaging	Het
Krt42	C	T	11: 100,267,249	V166M	possibly damaging	Het
Lama3	T	C	18: 12,495,279	M1476T	probably benign	Het
Lcor	A	G	19: 41,558,474	R166G	probably benign	Het
Mapt	C	T	11: 104,328,075	P354L	probably damaging	Het
Mep1b	A	T	18: 21,093,229	I383F	probably benign	Het
Mpzl1	C	A	1: 165,601,805	C222F	probably benign	Het
Mug2	T	C	6: 122,070,870	L780P	probably damaging	Het
Naip2	C	T	13: 100,152,157		probably null	Het
Ndufab1	T	C	7: 122,096,691	D41G	probably benign	Het
Ntn1	A	G	11: 68,213,185	C546R	probably damaging	Het
Olfr448	T	A	6: 42,896,753	F101I	probably damaging	Het
Pakap	A	G	4: 57,892,963	E880G	probably damaging	Het
Pde6b	A	G	5: 108,427,190	E639G	probably benign	Het
Phf10	T	C	17: 14,956,809	T83A	probably benign	Het
Phkb	T	A	8: 85,901,920	I186N	possibly damaging	Het
Pkhd1	A	G	1: 20,566,756		probably null	Het
Plxnd1	C	A	6: 115,978,017	A595S	possibly damaging	Het
Prodh	T	A	16: 18,081,027	D188V	probably damaging	Het
Psmd14	A	T	2: 61,785,456	K223M	possibly damaging	Het
Ptpn5	A	G	7: 47,078,868	M528T	possibly damaging	Het
Rassf9	G	A	10: 102,544,939	E59K	probably benign	Het
Rnf2	A	T	1: 151,476,185	L140H	probably damaging	Het
Scai	A	G	2: 39,080,081	F557S	probably damaging	Het
Sdk2	A	G	11: 113,856,726	S653P	possibly damaging	Het
Sec24c	A	G	14: 20,689,111	D534G	probably benign	Het
Serinc1	A	G	10: 57,519,465	V375A	probably benign	Het
Serpinb9f	C	T	13: 33,325,846	A7V	probably damaging	Het
Smco1	T	C	16: 32,273,882	S124P	probably damaging	Het
Smim23	C	A	11: 32,824,441	C26F	possibly damaging	Het
Sppl2c	T	A	11: 104,187,889	M505K	probably benign	Het
Sprr1b	C	A	3: 92,437,468	V34F	possibly damaging	Het
Sun1	G	A	5: 139,235,732		probably null	Het
Supt16	A	G	14: 52,178,135	L381P	possibly damaging	Het
Syne2	A	G	12: 75,899,246	D364G	possibly damaging	Het
Tax1bp1	G	T	6: 52,765,952	V775F	probably damaging	Het
Tial1	T	A	7: 128,444,659	I231F	probably damaging	Het
Tiam1	C	A	16: 89,798,694	V1300L	probably damaging	Het
Tmem132e	A	G	11: 82,443,417	T585A	probably damaging	Het
Tnni3k	C	T	3: 154,979,199	A165T	probably benign	Het
Tomm40	A	T	7: 19,710,961	I165N	probably damaging	Het
Tomt	T	C	7: 101,901,247	E104G	probably damaging	Het
Topaz1	T	C	9: 122,767,013	S950P	possibly damaging	Het
Traf3ip2	C	G	10: 39,625,940	P28R	probably benign	Het
Trim24	C	T	6: 37,957,815	P822S	probably damaging	Het
Upf3a	T	G	8: 13,792,108	Y175D	probably damaging	Het
Vars2	G	A	17: 35,666,922	P69S	probably benign	Het
Veph1	T	C	3: 66,244,555	Y151C	probably damaging	Het
Vmn2r11	T	A	5: 109,054,788	D141V	probably benign	Het
Vwa5b1	G	A	4: 138,592,020	Q442*	probably null	Het
Wdr17	T	A	8: 54,687,726	D197V	probably damaging	Het
Wdr70	G	T	15: 7,884,410	T586N	possibly damaging	Het
Wfdc18	G	A	11: 83,709,928	G52R	probably benign	Het
Zc3h6	T	C	2: 129,016,620	I857T	probably damaging	Het
Zfp318	GAAGAA	GAAGAACAAGAA	17: 46,412,524		probably benign	Het
Zfp318	TGAAGAAGAAGAAGAAGAAGAAGAAGAAG	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	17: 46,412,514		probably benign	Het
Zfp647	C	T	15: 76,911,951	V170I	probably benign	Het
Zfp871	T	C	17: 32,775,917	N76D	possibly damaging	Het
Zwilch	A	G	9: 64,160,952	Y194H	probably damaging	Het

Other mutations in Ppara

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Ppara	APN	15	85801067	missense	probably benign	0.00
IGL00754:Ppara	APN	15	85777642	missense	probably damaging	0.99
IGL01409:Ppara	APN	15	85777643	missense	probably damaging	0.98
IGL02080:Ppara	APN	15	85789019	missense	possibly damaging	0.74
IGL02442:Ppara	APN	15	85801143	missense	probably benign	0.19
IGL02810:Ppara	APN	15	85777677	missense	probably damaging	0.99
IGL02852:Ppara	APN	15	85797878	missense	probably benign	0.00
R0333:Ppara	UTSW	15	85790960	missense	probably damaging	1.00
R0551:Ppara	UTSW	15	85787105	splice site	probably benign
R0883:Ppara	UTSW	15	85798171	missense	probably damaging	1.00
R1125:Ppara	UTSW	15	85789055	missense	possibly damaging	0.71
R1189:Ppara	UTSW	15	85798164	missense	probably benign	0.04
R1233:Ppara	UTSW	15	85798021	missense	probably damaging	1.00
R1582:Ppara	UTSW	15	85798228	missense	possibly damaging	0.69
R1755:Ppara	UTSW	15	85797979	missense	probably benign	0.14
R2163:Ppara	UTSW	15	85801046	missense	probably benign	0.04
R4570:Ppara	UTSW	15	85787197	missense	probably benign	0.02
R4980:Ppara	UTSW	15	85787233	missense	probably damaging	0.99
R5117:Ppara	UTSW	15	85777761	missense	probably benign	0.00
R5749:Ppara	UTSW	15	85789028	missense	probably benign	0.35
R6199:Ppara	UTSW	15	85787233	missense	probably damaging	0.99
R6221:Ppara	UTSW	15	85777680	missense	probably benign	0.02
R6624:Ppara	UTSW	15	85791036	missense	probably benign	0.24
R7382:Ppara	UTSW	15	85787228	missense	probably damaging	1.00
R7534:Ppara	UTSW	15	85777726	missense	probably benign
R7629:Ppara	UTSW	15	85798191	missense	probably damaging	0.98
R8171:Ppara	UTSW	15	85797876	missense	probably benign
R8848:Ppara	UTSW	15	85788987	missense	possibly damaging	0.93
R9378:Ppara	UTSW	15	85777636	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- AAGCAGCAGACACTTGGCTC -3'
(R):5'- AAATCCCTGCTCTCCTGTATGGG -3'

Sequencing Primer
(F):5'- AGACACTTGGCTCCTCCACTG -3'
(R):5'- AGGTCCCTGAACAGTGGCAAC -3'

Posted On

2014-07-14