Mutagenetix > Incidental Mutation

Incidental Mutation 'R6221:Ppara'

504051

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

044432-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6221 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85619184-85687020 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85661881 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 41 (I41V)

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: I41V

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000059719
Gene: ENSMUSG00000022383
AA Change: I41V

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: I41V

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000105049
Gene: ENSMUSG00000022383
AA Change: I41V

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: I41V

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000105050
Gene: ENSMUSG00000022383
AA Change: I41V

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

noncoding transcript
Transcript: ENSMUST00000134880

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136453

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138813

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

99% (66/67)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 45,824,874 (GRCm39)	M108V	probably benign	Het
Adgrl1	C	T	8: 84,664,316 (GRCm39)	Q1236*	probably null	Het
Adprhl1	T	C	8: 13,275,634 (GRCm39)	I375V	probably benign	Het
Bsn	A	G	9: 107,982,765 (GRCm39)	S3663P	unknown	Het
Cfap44	A	T	16: 44,257,549 (GRCm39)	Q1028L	probably benign	Het
Cftr	A	C	6: 18,282,500 (GRCm39)	T1067P	probably benign	Het
Col1a2	T	C	6: 4,539,490 (GRCm39)	S1253P	unknown	Het
Dkk3	A	G	7: 111,720,853 (GRCm39)	Y158H	probably damaging	Het
Dmxl1	A	G	18: 50,004,799 (GRCm39)	Y949C	probably damaging	Het
E130311K13Rik	T	C	3: 63,823,152 (GRCm39)	Y164C	probably benign	Het
Evx1	T	A	6: 52,293,768 (GRCm39)	V312E	probably damaging	Het
Fam240b	T	C	13: 64,629,591 (GRCm39)	N75S	probably benign	Het
Fat2	A	G	11: 55,186,898 (GRCm39)		probably null	Het
Fbn1	G	T	2: 125,162,841 (GRCm39)	D2148E	probably benign	Het
Fzd4	A	G	7: 89,054,100 (GRCm39)	H69R	probably damaging	Het
Fzd6	T	C	15: 38,894,239 (GRCm39)	V135A	probably benign	Het
Gimap8	T	C	6: 48,635,876 (GRCm39)	L547S	probably damaging	Het
Gnrhr	G	A	5: 86,333,262 (GRCm39)	Q203*	probably null	Het
Gpaa1	T	G	15: 76,218,032 (GRCm39)	V341G	probably benign	Het
Grik3	T	A	4: 125,598,916 (GRCm39)	L828Q	probably damaging	Het
Heatr5b	T	C	17: 79,074,383 (GRCm39)	N1568S	probably benign	Het
Hpf1	T	A	8: 61,346,808 (GRCm39)	V41E	probably damaging	Het
Hsd3b1	A	T	3: 98,760,472 (GRCm39)	M173K	probably benign	Het
Hsd3b6	A	G	3: 98,713,849 (GRCm39)	I150T	probably benign	Het
Ica1	C	G	6: 8,644,181 (GRCm39)	L369F	possibly damaging	Het
Inf2	T	G	12: 112,570,179 (GRCm39)	S293A	possibly damaging	Het
Klra10	T	C	6: 130,246,235 (GRCm39)	T247A	probably benign	Het
Kpna1	G	A	16: 35,841,058 (GRCm39)	G91D	probably benign	Het
Ldlrap1	C	T	4: 134,484,671 (GRCm39)	E108K	probably damaging	Het
Ltb4r2	C	T	14: 55,999,540 (GRCm39)	R54W	probably damaging	Het
Mki67	A	G	7: 135,299,643 (GRCm39)	F1797S	probably benign	Het
Mlh3	C	A	12: 85,315,192 (GRCm39)	Q331H	possibly damaging	Het
Nol11	G	T	11: 107,062,442 (GRCm39)	T598K	possibly damaging	Het
Odad1	T	C	7: 45,596,903 (GRCm39)	L410P	probably damaging	Het
Or5b124	T	A	19: 13,610,830 (GRCm39)	Y118*	probably null	Het
Oxct2b	T	C	4: 123,010,601 (GRCm39)	Y174H	probably damaging	Het
Pakap	C	T	4: 57,855,618 (GRCm39)	Q559*	probably null	Het
Pclo	G	A	5: 14,725,327 (GRCm39)	R1395Q	unknown	Het
Ppip5k2	A	T	1: 97,657,753 (GRCm39)	I766K	probably damaging	Het
Ppm1j	A	G	3: 104,693,092 (GRCm39)	N483S	possibly damaging	Het
Prex2	T	C	1: 11,336,236 (GRCm39)	I1478T	probably benign	Het
Ror2	T	C	13: 53,267,253 (GRCm39)	Y394C	probably damaging	Het
Rsl1d1	A	G	16: 11,019,175 (GRCm39)	V121A	probably damaging	Het
Sart3	C	T	5: 113,881,267 (GRCm39)	A938T	probably benign	Het
Slc15a1	T	C	14: 121,702,316 (GRCm39)	Q610R	probably null	Het
Slc1a6	A	G	10: 78,635,910 (GRCm39)	E325G	probably damaging	Het
Slc7a13	A	G	4: 19,839,305 (GRCm39)	I303V	probably benign	Het
Smc3	T	A	19: 53,630,362 (GRCm39)	V1123E	probably damaging	Het
Smco1	G	A	16: 32,092,023 (GRCm39)	V34I	probably benign	Het
Spag1	A	G	15: 36,197,949 (GRCm39)	R304G	probably benign	Het
Spata31f1e	A	T	4: 42,793,153 (GRCm39)	N326K	probably benign	Het
Spta1	A	G	1: 174,009,342 (GRCm39)	D293G	probably damaging	Het
Sspo	C	A	6: 48,440,639 (GRCm39)	P1751Q	probably damaging	Het
Syt14	A	T	1: 192,612,908 (GRCm39)	Y631N	probably damaging	Het
Taar3	A	G	10: 23,825,970 (GRCm39)	N172S	possibly damaging	Het
Tank	A	G	2: 61,480,427 (GRCm39)	E321G	probably damaging	Het
Tcstv5	T	G	13: 120,411,534 (GRCm39)	H24P	probably damaging	Het
Thbs1	C	A	2: 117,950,478 (GRCm39)	L704M	probably damaging	Het
Tmem116	C	T	5: 121,629,171 (GRCm39)	T188M	probably benign	Het
Togaram1	A	T	12: 65,013,320 (GRCm39)	E190D	probably damaging	Het
Traf1	A	C	2: 34,838,313 (GRCm39)	V175G	probably benign	Het
Trib3	A	T	2: 152,180,528 (GRCm39)	C222S	probably damaging	Het
Tsen34	T	A	7: 3,698,543 (GRCm39)	I229N	probably damaging	Het
Ttc28	A	G	5: 111,419,114 (GRCm39)	D1370G	probably benign	Het
Ugt1a5	G	A	1: 88,093,964 (GRCm39)	R64H	probably benign	Het
Vdac2	G	A	14: 21,895,246 (GRCm39)	G265R	possibly damaging	Het
Vdac3	A	G	8: 23,078,759 (GRCm39)	V17A	possibly damaging	Het
Yif1b	C	T	7: 28,945,207 (GRCm39)	T220I	possibly damaging	Het
Zfp846	T	G	9: 20,504,591 (GRCm39)	H150Q	possibly damaging	Het
Zwilch	A	T	9: 64,068,665 (GRCm39)	H181Q	probably damaging	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
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'- GCTGCCACTGCTGAGATTTG -3'
(R):5'- AGCCCACAATGGTAGAGAGC -3'

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

Posted On

2018-02-28