Mutagenetix > Incidental Mutation

Incidental Mutation 'R4909:Pprc1'

379341

Institutional Source

Beutler Lab

Gene Symbol

Pprc1

Ensembl Gene

ENSMUSG00000055491

Gene Name

peroxisome proliferative activated receptor, gamma, coactivator-related 1

Synonyms

MMRRC Submission

042511-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4909 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46044955-46061348 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46052758 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 759 (T759A)

Ref Sequence

ENSEMBL: ENSMUSP00000096990 (fasta)

Gene Model

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

AlphaFold

Q6NZN1

Predicted Effect

unknown
Transcript: ENSMUST00000062322
AA Change: T763A

SMART Domains

Protein: ENSMUSP00000079389
Gene: ENSMUSG00000055491
AA Change: T763A

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 damaging
Transcript: ENSMUST00000099392
AA Change: T759A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000096990
Gene: ENSMUSG00000055491
AA Change: T759A

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: T762A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000107530
Gene: ENSMUSG00000055491
AA Change: T762A

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

noncoding transcript
Transcript: ENSMUST00000153111

Predicted Effect

probably benign
Transcript: ENSMUST00000147640

Predicted Effect

probably benign
Transcript: ENSMUST00000135327

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

Meta Mutation Damage Score

0.0632

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.7%

Validation Efficiency

97% (101/104)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030C10Rik	A	T	12: 20,865,089 (GRCm39)		noncoding transcript	Het
Aars1	G	A	8: 111,781,715 (GRCm39)	G929D	probably damaging	Het
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Actn4	A	T	7: 28,598,082 (GRCm39)	L506Q	probably damaging	Het
Adam26a	A	T	8: 44,023,475 (GRCm39)	F5Y	probably benign	Het
Adamts5	G	A	16: 85,696,954 (GRCm39)	Q68*	probably null	Het
Adcy9	A	G	16: 4,116,618 (GRCm39)	I871T	probably benign	Het
Ak5	A	T	3: 152,361,514 (GRCm39)	L136H	probably damaging	Het
Ap1g2	A	G	14: 55,342,483 (GRCm39)		probably null	Het
Ap2a1	G	A	7: 44,555,805 (GRCm39)	T355M	probably damaging	Het
Ap3s2	T	C	7: 79,564,989 (GRCm39)	D60G	possibly damaging	Het
Apold1	G	A	6: 134,960,558 (GRCm39)	R4Q	probably benign	Het
Atp13a5	G	T	16: 29,152,846 (GRCm39)	Q207K	possibly damaging	Het
BC035947	A	C	1: 78,474,666 (GRCm39)	I622S	probably damaging	Het
Bmper	G	T	9: 23,289,021 (GRCm39)	V339F	probably benign	Het
Btbd8	C	T	5: 107,655,176 (GRCm39)	Q992*	probably null	Het
C1ra	A	G	6: 124,499,293 (GRCm39)	D493G	probably damaging	Het
C3	C	T	17: 57,533,830 (GRCm39)		probably null	Het
Cabp4	T	A	19: 4,187,120 (GRCm39)	I209F	possibly damaging	Het
Cacna1s	A	T	1: 136,007,342 (GRCm39)	H453L	probably damaging	Het
Camk2g	A	G	14: 20,842,652 (GRCm39)	V32A	probably benign	Het
Ccdc175	G	A	12: 72,206,527 (GRCm39)	R240C	probably damaging	Het
Cdk13	C	T	13: 17,946,988 (GRCm39)	S590N	possibly damaging	Het
Cfap45	A	T	1: 172,357,443 (GRCm39)	T24S	probably benign	Het
Clca3a1	T	G	3: 144,730,324 (GRCm39)	K174Q	probably damaging	Het
Col1a2	G	A	6: 4,529,058 (GRCm39)		probably benign	Het
Colgalt1	A	T	8: 72,073,277 (GRCm39)	I323F	possibly damaging	Het
Cpeb3	A	T	19: 37,152,059 (GRCm39)	S106T	probably damaging	Het
Cpeb3	T	C	19: 37,151,633 (GRCm39)	S248G	possibly damaging	Het
Ctcfl	C	T	2: 172,937,191 (GRCm39)	A576T	probably benign	Het
Cyp4f16	T	G	17: 32,769,295 (GRCm39)	V395G	possibly damaging	Het
Dchs1	C	T	7: 105,415,462 (GRCm39)	G605S	probably damaging	Het
Egflam	A	T	15: 7,249,110 (GRCm39)	F903I	probably damaging	Het
Eif5a	G	A	11: 69,808,311 (GRCm39)	A62V	possibly damaging	Het
Fam217a	A	G	13: 35,094,389 (GRCm39)	S609P	probably damaging	Het
Fhad1	T	A	4: 141,712,822 (GRCm39)	I206F	probably benign	Het
Flt1	C	A	5: 147,620,749 (GRCm39)	A132S	probably benign	Het
Fras1	T	A	5: 96,856,617 (GRCm39)	M2000K	probably benign	Het
Frmd5	C	T	2: 121,422,134 (GRCm39)		probably null	Het
Gle1	T	C	2: 29,826,092 (GRCm39)	L57P	probably benign	Het
Glrx3	C	A	7: 137,046,765 (GRCm39)	N52K	probably damaging	Het
Grin3b	A	G	10: 79,812,938 (GRCm39)	*1004W	probably null	Het
Hectd4	T	A	5: 121,401,954 (GRCm39)	F347L	probably benign	Het
Htra1	G	A	7: 130,586,802 (GRCm39)	V462I	probably benign	Het
Itga11	A	G	9: 62,662,581 (GRCm39)	Y518C	probably damaging	Het
Krtap15-1	T	C	16: 88,626,253 (GRCm39)	F88L	probably benign	Het
Ktn1	A	T	14: 47,943,917 (GRCm39)	R866W	probably damaging	Het
Lamb1	G	A	12: 31,338,280 (GRCm39)	R483H	probably damaging	Het
Megf6	C	T	4: 154,349,848 (GRCm39)	R983C	probably damaging	Het
Mybpc3	T	A	2: 90,965,157 (GRCm39)	D1075E	probably benign	Het
Myo7b	A	T	18: 32,097,489 (GRCm39)	N1792K	probably benign	Het
Nabp2	A	T	10: 128,237,556 (GRCm39)		probably benign	Het
Neil3	A	G	8: 54,091,928 (GRCm39)	C7R	probably damaging	Het
Nxpe2	T	A	9: 48,230,897 (GRCm39)	I491F	possibly damaging	Het
Obscn	A	G	11: 58,952,291 (GRCm39)	V4292A	possibly damaging	Het
Ogfod3	A	G	11: 121,088,318 (GRCm39)	S139P	probably damaging	Het
Oog2	T	C	4: 143,921,669 (GRCm39)	I211T	possibly damaging	Het
Oosp1	T	C	19: 11,666,080 (GRCm39)	D70G	probably benign	Het
Or10j2	A	T	1: 173,098,546 (GRCm39)	D268V	probably damaging	Het
Or1ab2	A	G	8: 72,863,425 (GRCm39)	N5S	probably damaging	Het
Or56a42-ps1	C	A	7: 104,777,435 (GRCm39)	V70L	probably benign	Het
Or6c210	A	G	10: 129,496,589 (GRCm39)	I305V	probably benign	Het
Padi3	T	C	4: 140,522,937 (GRCm39)	D345G	probably damaging	Het
Pcyt2	A	G	11: 120,506,246 (GRCm39)	F71L	probably benign	Het
Pi4k2b	T	C	5: 52,911,971 (GRCm39)		probably benign	Het
Pigr	A	C	1: 130,776,195 (GRCm39)	T577P	possibly damaging	Het
Pirb	G	A	7: 3,722,361 (GRCm39)	Q161*	probably null	Het
Pnlip	A	G	19: 58,664,672 (GRCm39)	E204G	possibly damaging	Het
Pop7	G	T	5: 137,500,161 (GRCm39)	D57E	probably benign	Het
Ppfia4	A	T	1: 134,260,239 (GRCm39)	I8N	probably damaging	Het
Prom1	T	C	5: 44,202,894 (GRCm39)	N213S	probably benign	Het
Prop1	GCTTCACT	GCTTCACTTCACT	11: 50,842,863 (GRCm39)		probably null	Het
Prop1	A	T	11: 50,842,872 (GRCm39)	L105H	probably damaging	Het
Pwp2	A	T	10: 78,018,328 (GRCm39)	M121K	possibly damaging	Het
Rap1gds1	A	T	3: 138,689,509 (GRCm39)	M161K	possibly damaging	Het
Rps6kb2	T	A	19: 4,207,002 (GRCm39)		probably benign	Het
Rxfp1	A	G	3: 79,552,109 (GRCm39)	S731P	probably benign	Het
Scfd1	T	C	12: 51,437,195 (GRCm39)	V137A	probably benign	Het
Slc6a15	G	A	10: 103,240,275 (GRCm39)	D333N	probably damaging	Het
Sqor	T	C	2: 122,627,101 (GRCm39)	V74A	possibly damaging	Het
Stil	T	A	4: 114,881,422 (GRCm39)	Y655*	probably null	Het
Syt14	A	T	1: 192,581,167 (GRCm39)	I468K	probably damaging	Het
Tbc1d31	T	C	15: 57,825,661 (GRCm39)		probably null	Het
Tspyl5	A	T	15: 33,686,995 (GRCm39)	S317T	probably damaging	Het
Ttf1	C	T	2: 28,954,668 (GRCm39)	H11Y	possibly damaging	Het
Ttf2	T	C	3: 100,861,631 (GRCm39)	T620A	probably damaging	Het
Usp32	G	A	11: 84,946,598 (GRCm39)	Q269*	probably null	Het
Vsig10	T	A	5: 117,476,308 (GRCm39)	V254E	probably benign	Het
Wdr6	C	T	9: 108,450,187 (GRCm39)	A1114T	probably benign	Het
Zfp280d	A	G	9: 72,238,714 (GRCm39)	S63G	probably damaging	Het
Zfp607b	A	G	7: 27,403,221 (GRCm39)	D559G	probably benign	Het
Zfp934	T	C	13: 62,665,768 (GRCm39)	H291R	probably damaging	Het

Other mutations in Pprc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Pprc1	APN	19	46,051,087 (GRCm39)	missense	possibly damaging	0.93
IGL00825:Pprc1	APN	19	46,059,845 (GRCm39)	unclassified	probably benign
IGL01445:Pprc1	APN	19	46,053,671 (GRCm39)	unclassified	probably benign
IGL01449:Pprc1	APN	19	46,053,671 (GRCm39)	unclassified	probably benign
IGL01475:Pprc1	APN	19	46,059,968 (GRCm39)	missense	probably benign	0.03
IGL01750:Pprc1	APN	19	46,060,268 (GRCm39)	unclassified	probably benign
IGL01779:Pprc1	APN	19	46,050,641 (GRCm39)	missense	probably damaging	1.00
IGL01943:Pprc1	APN	19	46,052,983 (GRCm39)	unclassified	probably benign
IGL02031:Pprc1	APN	19	46,060,782 (GRCm39)	unclassified	probably benign
IGL02145:Pprc1	APN	19	46,053,329 (GRCm39)	unclassified	probably benign
IGL02206:Pprc1	APN	19	46,060,190 (GRCm39)	missense	probably damaging	0.98
IGL02439:Pprc1	APN	19	46,060,758 (GRCm39)	missense	possibly damaging	0.94
IGL02675:Pprc1	APN	19	46,051,946 (GRCm39)	missense	probably damaging	1.00
IGL03185:Pprc1	APN	19	46,058,186 (GRCm39)	intron	probably benign
IGL03325:Pprc1	APN	19	46,049,948 (GRCm39)	missense	possibly damaging	0.86
R0125:Pprc1	UTSW	19	46,057,951 (GRCm39)	intron	probably benign
R0388:Pprc1	UTSW	19	46,051,214 (GRCm39)	missense	possibly damaging	0.85
R0498:Pprc1	UTSW	19	46,060,007 (GRCm39)	nonsense	probably null
R1129:Pprc1	UTSW	19	46,052,245 (GRCm39)	missense	probably benign	0.35
R1439:Pprc1	UTSW	19	46,052,175 (GRCm39)	missense	possibly damaging	0.94
R1536:Pprc1	UTSW	19	46,059,965 (GRCm39)	unclassified	probably benign
R4551:Pprc1	UTSW	19	46,055,664 (GRCm39)	unclassified	probably benign
R4698:Pprc1	UTSW	19	46,057,634 (GRCm39)	intron	probably benign
R4822:Pprc1	UTSW	19	46,059,795 (GRCm39)	unclassified	probably benign
R4931:Pprc1	UTSW	19	46,059,755 (GRCm39)	unclassified	probably benign
R5132:Pprc1	UTSW	19	46,061,121 (GRCm39)	unclassified	probably benign
R5157:Pprc1	UTSW	19	46,053,197 (GRCm39)	unclassified	probably benign
R5834:Pprc1	UTSW	19	46,053,659 (GRCm39)	unclassified	probably benign
R5938:Pprc1	UTSW	19	46,059,755 (GRCm39)	unclassified	probably benign
R5947:Pprc1	UTSW	19	46,052,111 (GRCm39)	missense	possibly damaging	0.85
R5975:Pprc1	UTSW	19	46,053,809 (GRCm39)	unclassified	probably benign
R6009:Pprc1	UTSW	19	46,060,171 (GRCm39)	missense	probably damaging	1.00
R6259:Pprc1	UTSW	19	46,052,849 (GRCm39)	missense	probably damaging	0.97
R6954:Pprc1	UTSW	19	46,052,872 (GRCm39)	missense	probably damaging	0.96
R7287:Pprc1	UTSW	19	46,059,793 (GRCm39)	missense	unknown
R7355:Pprc1	UTSW	19	46,053,785 (GRCm39)	missense	unknown
R7527:Pprc1	UTSW	19	46,057,804 (GRCm39)	missense	unknown
R7632:Pprc1	UTSW	19	46,060,721 (GRCm39)	missense	probably damaging	1.00
R7745:Pprc1	UTSW	19	46,053,781 (GRCm39)	missense	unknown
R7896:Pprc1	UTSW	19	46,049,888 (GRCm39)	missense	unknown
R8904:Pprc1	UTSW	19	46,060,183 (GRCm39)	missense	possibly damaging	0.92
R8966:Pprc1	UTSW	19	46,054,118 (GRCm39)	missense	unknown
R9261:Pprc1	UTSW	19	46,050,868 (GRCm39)	missense	unknown
R9337:Pprc1	UTSW	19	46,052,198 (GRCm39)	missense	unknown
R9509:Pprc1	UTSW	19	46,051,838 (GRCm39)	missense	unknown
R9513:Pprc1	UTSW	19	46,056,500 (GRCm39)	nonsense	probably null
R9728:Pprc1	UTSW	19	46,060,639 (GRCm39)	missense	probably damaging	1.00
R9761:Pprc1	UTSW	19	46,049,998 (GRCm39)	missense	unknown
Z1177:Pprc1	UTSW	19	46,050,845 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CTGAAGGCAAGGATGTTGTAGGTC -3'
(R):5'- GGTGGTCTAACTGCAAGTGG -3'

Sequencing Primer
(F):5'- TCCTCTGAAGGTGGAAGGTAGTACC -3'
(R):5'- CTCATGAGATGACACCTGTTCAGAG -3'

Posted On

2016-04-15