Mutagenetix > Incidental Mutations

Incidental Mutation 'R0388:Pprc1'

65402

Institutional Source

Beutler Lab

Gene Symbol

Pprc1

Ensembl Gene

ENSMUSG00000055491

Gene Name

peroxisome proliferative activated receptor, gamma, coactivator-related 1

Synonyms

MMRRC Submission

038594-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0388 (G1)

Quality Score

113

Status

Not validated

Chromosome

Chromosomal Location

46044886-46072915 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46062775 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 248 (V248A)

Ref Sequence

ENSEMBL: ENSMUSP00000079389 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062322
AA Change: V248A

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000079389
Gene: ENSMUSG00000055491
AA Change: V248A

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

probably benign
Transcript: ENSMUST00000099392
AA Change: V244A

PolyPhen 2 Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000096990
Gene: ENSMUSG00000055491
AA Change: V244A

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

probably benign
Transcript: ENSMUST00000111899
AA Change: V247A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000107530
Gene: ENSMUSG00000055491
AA Change: V247A

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: ENSMUST00000134015

Predicted Effect

probably benign
Transcript: ENSMUST00000135327

Predicted Effect

probably benign
Transcript: ENSMUST00000147640

Predicted Effect

probably benign
Transcript: ENSMUST00000150158
AA Change: V136A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000120475
Gene: ENSMUSG00000055491
AA Change: V136A

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

1x: 99.0%
3x: 98.0%
10x: 95.6%
20x: 90.7%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,295,159		probably benign	Het
Acsbg1	T	C	9: 54,609,063	K678R	probably damaging	Het
Adgrg6	A	G	10: 14,450,658	I410T	probably benign	Het
Afap1l2	A	C	19: 56,917,242		probably benign	Het
Aox2	T	C	1: 58,354,406	Y1242H	probably damaging	Het
Apoo-ps	T	C	13: 107,414,673		noncoding transcript	Het
Camta1	C	A	4: 151,075,140	R1614L	probably damaging	Het
Cdh3	C	A	8: 106,539,129	T268K	probably damaging	Het
Chd5	T	A	4: 152,371,644	H923Q	probably damaging	Het
Chd7	T	C	4: 8,854,560	V1967A	probably benign	Het
Cntn3	T	C	6: 102,277,316	M222V	probably damaging	Het
Dcaf17	A	G	2: 71,078,571	K277R	probably benign	Het
Dmbt1	T	C	7: 131,096,049		probably benign	Het
Dmpk	T	A	7: 19,084,077		probably benign	Het
Dzank1	A	T	2: 144,476,106	L714Q	possibly damaging	Het
Efcab3	A	G	11: 105,109,401	D272G	possibly damaging	Het
Erbb2	G	C	11: 98,427,351	R471P	possibly damaging	Het
Esf1	T	A	2: 140,120,871	Y760F	possibly damaging	Het
Fanci	C	A	7: 79,439,630	T938K	probably benign	Het
Gnai3	A	G	3: 108,115,757		probably benign	Het
Hspg2	T	A	4: 137,511,158	C319S	probably damaging	Het
Il12a	T	A	3: 68,695,187		probably null	Het
Inpp4a	A	G	1: 37,396,160	D837G	probably damaging	Het
Kcnj5	T	A	9: 32,317,863	E13V	probably damaging	Het
Kcnq3	T	A	15: 66,000,038	Y594F	probably benign	Het
Kif16b	T	C	2: 142,740,937	E556G	probably damaging	Het
Kif28	T	C	1: 179,740,089	I39V	possibly damaging	Het
Lgi2	T	C	5: 52,554,549	E143G	probably damaging	Het
Mast1	T	G	8: 84,915,537	I1063L	probably benign	Het
Med12l	T	C	3: 59,093,504		probably benign	Het
Mmp19	G	T	10: 128,798,883	R456L	probably benign	Het
Mon1b	T	A	8: 113,639,078	V346E	probably damaging	Het
Mpv17l	A	T	16: 13,940,999	I96L	probably benign	Het
Mrgpra9	A	T	7: 47,252,794	M1K	probably null	Het
Mycbp2	A	T	14: 103,156,667	H2819Q	probably benign	Het
Nav1	A	C	1: 135,448,917		probably benign	Het
Neurl4	T	C	11: 69,911,733		probably benign	Het
Ntng2	G	C	2: 29,207,426	P341R	probably damaging	Het
Oas1d	A	T	5: 120,917,028	Y221F	probably damaging	Het
Olfr1040	A	G	2: 86,146,630	Y35H	probably damaging	Het
Olfr348	C	A	2: 36,786,862	D112E	probably benign	Het
Olfr365	A	C	2: 37,202,184		probably null	Het
Osbpl8	A	G	10: 111,272,282	M380V	probably benign	Het
Pank1	T	C	19: 34,821,706		probably benign	Het
Parn	T	C	16: 13,654,476	D169G	possibly damaging	Het
Pknox1	T	A	17: 31,603,192	I311N	probably damaging	Het
Prkcq	T	C	2: 11,254,234	C322R	probably benign	Het
Ptpn13	T	A	5: 103,555,062	I1298N	probably benign	Het
Rab11fip3	A	G	17: 26,069,072	S36P	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Sass6	C	A	3: 116,607,308		probably benign	Het
Shroom3	G	A	5: 92,951,293	G1463D	probably benign	Het
Slc35d1	A	T	4: 103,184,887	Y249*	probably null	Het
Slc9a3	C	T	13: 74,121,536	P8S	unknown	Het
Slc9a9	T	A	9: 94,939,563		probably null	Het
Syne2	T	A	12: 75,986,975	M3666K	probably benign	Het
Synpo2	A	G	3: 123,079,897	V1140A	probably benign	Het
Thada	A	G	17: 84,231,096	F1495L	probably benign	Het
Timeless	A	G	10: 128,241,425		probably null	Het
Tlr6	G	T	5: 64,955,205	H120N	possibly damaging	Het
Tmem173	A	G	18: 35,735,111		probably null	Het
Tns3	T	C	11: 8,445,703	I1234V	probably benign	Het
Ttll9	A	G	2: 153,000,179	S318G	probably benign	Het
Vps13c	T	C	9: 67,922,915		probably benign	Het
Zfp933	T	C	4: 147,826,442	I232M	probably benign	Het
Zfyve27	T	C	19: 42,189,585	S382P	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
IGL01449: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
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

Predicted Primers

PCR Primer
(F):5'- GTGACCTTATCACCCCAATTGACCC -3'
(R):5'- AGCATCAGCCTGTCCCTCAAGTTC -3'

Sequencing Primer
(F):5'- CTTCTGAACTCACAGATGGGG -3'
(R):5'- TCAAGTTCACCCTCAAGGGATG -3'

Posted On

2013-08-08