Mutagenetix > Incidental Mutations

Incidental Mutation 'R1129:Pprc1'

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96522

Institutional Source

Beutler Lab

Gene Symbol

Pprc1

Ensembl Gene

ENSMUSG00000055491

Gene Name

peroxisome proliferative activated receptor, gamma, coactivator-related 1

Synonyms

MMRRC Submission

039202-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1129 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46044886-46072915 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 46063806 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 591 (A591S)

Ref Sequence

ENSEMBL: ENSMUSP00000107530 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000062322
AA Change: A592S

SMART Domains

Protein: ENSMUSP00000079389
Gene: ENSMUSG00000055491
AA Change: A592S

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: A588S

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000096990
Gene: ENSMUSG00000055491
AA Change: A588S

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: A591S

PolyPhen 2 Score 0.354 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000107530
Gene: ENSMUSG00000055491
AA Change: A591S

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

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.1%

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adrm1	G	C	2: 180,172,919		probably benign	Het
Bub1b	A	T	2: 118,615,006	D269V	probably damaging	Het
Ccdc73	A	G	2: 104,992,190	N828S	possibly damaging	Het
Cdk12	T	C	11: 98,245,375	S1152P	unknown	Het
Cnnm3	T	C	1: 36,513,016	L369P	probably damaging	Het
Cxadr	A	G	16: 78,336,433	K360R	probably benign	Het
Dlg2	G	A	7: 92,431,174		probably null	Het
Dst	T	C	1: 34,199,554	V3779A	probably benign	Het
Fbxo16	G	A	14: 65,295,532	R161K	probably benign	Het
Gm9726	T	A	12: 93,928,526		noncoding transcript	Het
Hectd4	A	G	5: 121,310,599	T337A	possibly damaging	Het
Hist1h1t	G	T	13: 23,696,324	K153N	possibly damaging	Het
Ints1	A	G	5: 139,758,471	L1510S	probably benign	Het
Kansl2	T	C	15: 98,533,581	Y63C	probably damaging	Het
Lats2	T	C	14: 57,700,333	E233G	possibly damaging	Het
Naca	T	C	10: 128,040,202		probably benign	Het
Sbsn	C	T	7: 30,753,440	P627S	probably benign	Het
Sema6b	T	C	17: 56,124,347	E772G	probably benign	Het
Tmem33	A	G	5: 67,264,460		probably null	Het
Tmtc4	A	G	14: 122,943,153		probably null	Het
Ubqlnl	A	T	7: 104,149,650	H213Q	probably damaging	Het
Ugt1a10	T	C	1: 88,055,609	M43T	probably benign	Het
Vmn2r68	T	C	7: 85,237,504		probably null	Het
Zcchc14	A	G	8: 121,608,415		probably benign	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
R0388:Pprc1	UTSW	19	46062775	missense	possibly damaging	0.85
R0498:Pprc1	UTSW	19	46071568	nonsense	probably null
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

Predicted Primers

PCR Primer
(F):5'- GATAGTCCTGCTGAAGAAGACGCAC -3'
(R):5'- TCAGAGGACCTACAACATCCTTGCC -3'

Sequencing Primer
(F):5'- AAGACGCACTGGATCTCTG -3'
(R):5'- CTGAgctgctgctgctg -3'

Posted On

2014-01-05