Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01449:Pprc1'

84566

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pprc1

Ensembl Gene

ENSMUSG00000055491

Gene Name

peroxisome proliferative activated receptor, gamma, coactivator-related 1

Synonyms

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01449

Quality Score

Status

Chromosome

Chromosomal Location

46044886-46072915 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 46065232 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120475 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062322] [ENSMUST00000099392] [ENSMUST00000111899] [ENSMUST00000126127] [ENSMUST00000135327] [ENSMUST00000147640] [ENSMUST00000150158]

Predicted Effect

unknown
Transcript: ENSMUST00000062322
AA Change: P1067L

SMART Domains

Protein: ENSMUSP00000079389
Gene: ENSMUSG00000055491
AA Change: P1067L

Domain	Start	End	E-Value	Type
low complexity region	13	30	N/A	INTRINSIC
low complexity region	214	240	N/A	INTRINSIC
low complexity region	448	459	N/A	INTRINSIC
low complexity region	516	525	N/A	INTRINSIC
low complexity region	646	661	N/A	INTRINSIC
low complexity region	732	739	N/A	INTRINSIC
low complexity region	826	887	N/A	INTRINSIC
low complexity region	915	925	N/A	INTRINSIC
low complexity region	939	960	N/A	INTRINSIC
low complexity region	979	991	N/A	INTRINSIC
low complexity region	1020	1033	N/A	INTRINSIC
low complexity region	1224	1240	N/A	INTRINSIC
low complexity region	1397	1446	N/A	INTRINSIC
low complexity region	1453	1504	N/A	INTRINSIC
RRM	1526	1597	3.36e-7	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000099392
AA Change: P1063L

SMART Domains

Protein: ENSMUSP00000096990
Gene: ENSMUSG00000055491
AA Change: P1063L

Domain	Start	End	E-Value	Type
low complexity region	13	30	N/A	INTRINSIC
low complexity region	210	236	N/A	INTRINSIC
low complexity region	444	455	N/A	INTRINSIC
low complexity region	512	521	N/A	INTRINSIC
low complexity region	642	657	N/A	INTRINSIC
low complexity region	728	735	N/A	INTRINSIC
low complexity region	822	883	N/A	INTRINSIC
low complexity region	911	921	N/A	INTRINSIC
low complexity region	935	956	N/A	INTRINSIC
low complexity region	975	987	N/A	INTRINSIC
low complexity region	1016	1029	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000111899
AA Change: P1066L

SMART Domains

Protein: ENSMUSP00000107530
Gene: ENSMUSG00000055491
AA Change: P1066L

Domain	Start	End	E-Value	Type
low complexity region	13	30	N/A	INTRINSIC
low complexity region	213	239	N/A	INTRINSIC
low complexity region	447	458	N/A	INTRINSIC
low complexity region	515	524	N/A	INTRINSIC
low complexity region	645	660	N/A	INTRINSIC
low complexity region	731	738	N/A	INTRINSIC
low complexity region	825	886	N/A	INTRINSIC
low complexity region	914	924	N/A	INTRINSIC
low complexity region	938	959	N/A	INTRINSIC
low complexity region	978	990	N/A	INTRINSIC
low complexity region	1019	1032	N/A	INTRINSIC
low complexity region	1222	1238	N/A	INTRINSIC
low complexity region	1395	1444	N/A	INTRINSIC
low complexity region	1451	1502	N/A	INTRINSIC
RRM	1524	1595	3.36e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000126127

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128386

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133101

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134015

Predicted Effect

probably benign
Transcript: ENSMUST00000135327

Predicted Effect

probably benign
Transcript: ENSMUST00000147640

Predicted Effect

probably benign
Transcript: ENSMUST00000150158

SMART Domains

Protein: ENSMUSP00000120475
Gene: ENSMUSG00000055491

Domain	Start	End	E-Value	Type
low complexity region	70	86	N/A	INTRINSIC
low complexity region	102	128	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153111

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar to PPAR-gamma coactivator 1 (PPARGC1/PGC-1), a protein that can activate mitochondrial biogenesis in part through a direct interaction with nuclear respiratory factor 1 (NRF1). This protein has been shown to interact with NRF1. It is thought to be a functional relative of PPAR-gamma coactivator 1 that activates mitochondrial biogenesis through NRF1 in response to proliferative signals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit letahlity post-implantation with delayed hatching and disorganized embryo tissues. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	T	8: 72,444,849	L33F	probably benign	Het
Actr8	T	C	14: 29,990,970		probably null	Het
Aldh16a1	C	A	7: 45,141,967	A105S	probably damaging	Het
Angpt2	T	C	8: 18,710,625	T154A	probably benign	Het
BC051665	A	G	13: 60,782,704	V278A	probably damaging	Het
Cap1	T	C	4: 122,860,187	T458A	probably damaging	Het
Clcn3	A	T	8: 60,934,598	S179T	probably damaging	Het
Cyp2a22	T	C	7: 26,933,553	D408G	probably benign	Het
D430042O09Rik	T	A	7: 125,870,685	V1442D	probably damaging	Het
Fam217b	T	A	2: 178,421,150	S302R	probably damaging	Het
Fcho2	A	T	13: 98,789,807	D89E	probably benign	Het
Fnip1	C	T	11: 54,499,508	R434C	probably damaging	Het
Gga3	G	A	11: 115,589,102	T261M	probably damaging	Het
Gm21985	T	C	2: 112,339,396	F292L	probably damaging	Het
Gm43638	A	T	5: 87,486,215	S178T	possibly damaging	Het
Igkv10-95	G	A	6: 68,680,764	G68E	probably damaging	Het
Lpcat2	G	A	8: 92,871,147	R180Q	possibly damaging	Het
Muc6	C	T	7: 141,638,614	A1984T	possibly damaging	Het
Npy4r	T	A	14: 34,146,365	Y322F	probably damaging	Het
Nwd2	T	A	5: 63,805,594	H840Q	probably damaging	Het
Olfr844	G	A	9: 19,319,233	G233D	probably damaging	Het
Osbpl2	G	T	2: 180,145,194		probably benign	Het
Pclo	T	A	5: 14,678,516		probably benign	Het
Pold4	T	C	19: 4,232,867		probably benign	Het
Ppp1r16a	A	G	15: 76,694,294		probably benign	Het
Prkcg	A	G	7: 3,319,619	D343G	probably benign	Het
Scaf11	A	C	15: 96,419,126	S852R	probably benign	Het
Slc31a2	C	T	4: 62,292,696	T22I	probably damaging	Het
Sox30	T	A	11: 45,981,342	D341E	probably damaging	Het
Tle4	A	G	19: 14,465,340	S339P	probably benign	Het
Tsg101	A	T	7: 46,908,925	Y78N	probably damaging	Het
Ttc1	T	A	11: 43,738,803	S179C	probably damaging	Het
Txnrd3	T	A	6: 89,654,147	S142T	probably benign	Het
Ubr4	C	A	4: 139,412,736	A1210E	probably damaging	Het
Uroc1	C	A	6: 90,338,653	P172Q	probably damaging	Het
Usp12	T	C	5: 146,754,440	D168G	probably benign	Het
Vmn1r32	T	A	6: 66,552,932	M287L	probably benign	Het
Vwa8	C	T	14: 79,182,988	Q1710*	probably null	Het
Wdfy4	T	A	14: 33,104,037	Q1219L	probably damaging	Het
Zbtb17	A	G	4: 141,463,305	T145A	probably benign	Het
Zfp697	T	C	3: 98,427,530	C204R	probably damaging	Het

Other mutations in Pprc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Pprc1	APN	19	46062648	missense	possibly damaging	0.93
IGL00825:Pprc1	APN	19	46071406	unclassified	probably benign
IGL01445:Pprc1	APN	19	46065232	unclassified	probably benign
IGL01475:Pprc1	APN	19	46071529	missense	probably benign	0.03
IGL01750:Pprc1	APN	19	46071829	unclassified	probably benign
IGL01779:Pprc1	APN	19	46062202	missense	probably damaging	1.00
IGL01943:Pprc1	APN	19	46064544	unclassified	probably benign
IGL02031:Pprc1	APN	19	46072343	unclassified	probably benign
IGL02145:Pprc1	APN	19	46064890	unclassified	probably benign
IGL02206:Pprc1	APN	19	46071751	missense	probably damaging	0.98
IGL02439:Pprc1	APN	19	46072319	missense	possibly damaging	0.94
IGL02675:Pprc1	APN	19	46063507	missense	probably damaging	1.00
IGL03185:Pprc1	APN	19	46069747	intron	probably benign
IGL03325:Pprc1	APN	19	46061509	missense	possibly damaging	0.86
R0125:Pprc1	UTSW	19	46069512	intron	probably benign
R0388:Pprc1	UTSW	19	46062775	missense	possibly damaging	0.85
R0498:Pprc1	UTSW	19	46071568	nonsense	probably null
R1129:Pprc1	UTSW	19	46063806	missense	probably benign	0.35
R1439:Pprc1	UTSW	19	46063736	missense	possibly damaging	0.94
R1536:Pprc1	UTSW	19	46071526	unclassified	probably benign
R4551:Pprc1	UTSW	19	46067225	unclassified	probably benign
R4698:Pprc1	UTSW	19	46069195	intron	probably benign
R4822:Pprc1	UTSW	19	46071356	unclassified	probably benign
R4909:Pprc1	UTSW	19	46064319	missense	probably damaging	0.99
R4931:Pprc1	UTSW	19	46071316	unclassified	probably benign
R5132:Pprc1	UTSW	19	46072682	unclassified	probably benign
R5157:Pprc1	UTSW	19	46064758	unclassified	probably benign
R5834:Pprc1	UTSW	19	46065220	unclassified	probably benign
R5938:Pprc1	UTSW	19	46071316	unclassified	probably benign
R5947:Pprc1	UTSW	19	46063672	missense	possibly damaging	0.85
R5975:Pprc1	UTSW	19	46065370	unclassified	probably benign
R6009:Pprc1	UTSW	19	46071732	missense	probably damaging	1.00
R6259:Pprc1	UTSW	19	46064410	missense	probably damaging	0.97
R6954:Pprc1	UTSW	19	46064433	missense	probably damaging	0.96
R7287:Pprc1	UTSW	19	46071354	missense	unknown
R7355:Pprc1	UTSW	19	46065346	missense	unknown
R7527:Pprc1	UTSW	19	46069365	missense	unknown
R7632:Pprc1	UTSW	19	46072282	missense	probably damaging	1.00
R7745:Pprc1	UTSW	19	46065342	missense	unknown
R7896:Pprc1	UTSW	19	46061449	missense	unknown
Z1177:Pprc1	UTSW	19	46062406	missense	unknown

Posted On

2013-11-11