Mutagenetix > Incidental Mutation

Incidental Mutation 'R7355:Pprc1'

570920

Institutional Source

Beutler Lab

Gene Symbol

Pprc1

Ensembl Gene

ENSMUSG00000055491

Gene Name

peroxisome proliferative activated receptor, gamma, coactivator-related 1

Synonyms

MMRRC Submission

045441-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7355 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46044955-46061348 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46053785 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1105 (V1105A)

Ref Sequence

ENSEMBL: ENSMUSP00000079389 (fasta)

Gene Model

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

AlphaFold

Q6NZN1

Predicted Effect

unknown
Transcript: ENSMUST00000062322
AA Change: V1105A

SMART Domains

Protein: ENSMUSP00000079389
Gene: ENSMUSG00000055491
AA Change: V1105A

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: V1101A

SMART Domains

Protein: ENSMUSP00000096990
Gene: ENSMUSG00000055491
AA Change: V1101A

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: V1104A

SMART Domains

Protein: ENSMUSP00000107530
Gene: ENSMUSG00000055491
AA Change: V1104A

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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (72/72)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	G	A	17: 24,486,621 (GRCm39)	R1469W	probably benign	Het
Acad10	G	T	5: 121,768,780 (GRCm39)	Y728*	probably null	Het
Adamts17	T	C	7: 66,725,052 (GRCm39)	V160A		Het
Astn1	A	T	1: 158,491,846 (GRCm39)		probably null	Het
Atp8a2	T	C	14: 60,282,453 (GRCm39)	K104E	possibly damaging	Het
Axl	T	C	7: 25,473,531 (GRCm39)	Y365C	probably benign	Het
Btbd16	A	T	7: 130,423,173 (GRCm39)	Y409F	probably benign	Het
Caln1	A	T	5: 130,443,732 (GRCm39)	T22S	probably benign	Het
Camk1	C	A	6: 113,315,307 (GRCm39)	G164C	probably damaging	Het
Cd96	T	C	16: 45,861,655 (GRCm39)	T512A	possibly damaging	Het
Ceacam5	A	G	7: 17,481,312 (GRCm39)	D353G	probably damaging	Het
Cep162	C	A	9: 87,136,008 (GRCm39)	E12*	probably null	Het
Cfh	A	T	1: 140,064,553 (GRCm39)	V365E	probably damaging	Het
Chd7	A	G	4: 8,752,196 (GRCm39)	H231R	unknown	Het
Cntnap3	T	C	13: 64,919,776 (GRCm39)	T694A	probably benign	Het
Colq	C	A	14: 31,267,066 (GRCm39)	G158V	probably damaging	Het
Ctif	G	A	18: 75,743,756 (GRCm39)	H139Y	probably damaging	Het
D630003M21Rik	A	T	2: 158,042,144 (GRCm39)	F934Y	probably damaging	Het
Dclre1a	T	A	19: 56,535,567 (GRCm39)	T6S	possibly damaging	Het
Dnmbp	T	C	19: 43,890,180 (GRCm39)	D529G	probably benign	Het
Fat2	T	A	11: 55,147,377 (GRCm39)	Q3955L	probably benign	Het
Gjd4	A	G	18: 9,280,860 (GRCm39)	S73P	probably damaging	Het
Gm19410	C	A	8: 36,274,226 (GRCm39)	Q1460K	probably benign	Het
Golga5	A	T	12: 102,438,494 (GRCm39)	I70F	possibly damaging	Het
Gon4l	T	A	3: 88,770,827 (GRCm39)	I502N	probably damaging	Het
Gtf2ird2	C	G	5: 134,245,491 (GRCm39)	A583G	probably benign	Het
Hectd1	A	C	12: 51,838,081 (GRCm39)	W694G	possibly damaging	Het
Ifit1bl2	C	T	19: 34,597,061 (GRCm39)	G185D	probably damaging	Het
Igfbp6	G	A	15: 102,056,375 (GRCm39)	A145T	probably benign	Het
Junb	C	T	8: 85,705,013 (GRCm39)	A16T	probably benign	Het
Kcnh4	C	T	11: 100,643,269 (GRCm39)	V333I	possibly damaging	Het
Ly6c1	T	C	15: 74,919,256 (GRCm39)	T45A	possibly damaging	Het
Mon2	T	A	10: 122,845,421 (GRCm39)	Q1428L	probably benign	Het
Nfatc2ip	C	T	7: 125,986,783 (GRCm39)		probably null	Het
Olfml3	C	A	3: 103,643,395 (GRCm39)	G329W	probably damaging	Het
Or10ag56	T	C	2: 87,139,754 (GRCm39)	V207A	probably benign	Het
Or10al2	A	G	17: 37,983,301 (GRCm39)	Y129C	probably benign	Het
Or6d15	T	A	6: 116,559,916 (GRCm39)		probably benign	Het
Or9g3	C	T	2: 85,584,023 (GRCm39)	P106L	probably benign	Het
Pcsk7	A	G	9: 45,820,672 (GRCm39)	M35V	probably benign	Het
Phf14	A	G	6: 12,081,006 (GRCm39)	N921S	probably benign	Het
Pla2g4e	G	A	2: 120,011,982 (GRCm39)	S396F	possibly damaging	Het
Ppp4r4	A	T	12: 103,570,841 (GRCm39)	K766*	probably null	Het
Prdm9	T	G	17: 15,765,497 (GRCm39)	N428H	probably benign	Het
Prkcg	C	T	7: 3,372,025 (GRCm39)	T497I	possibly damaging	Het
Prkcz	A	G	4: 155,441,953 (GRCm39)	W60R	probably damaging	Het
Ptprn2	T	C	12: 116,822,571 (GRCm39)	F217L	probably benign	Het
Pum2	T	A	12: 8,763,906 (GRCm39)	Y283*	probably null	Het
Rest	A	G	5: 77,415,875 (GRCm39)	M30V	probably benign	Het
Rfxank	C	T	8: 70,587,957 (GRCm39)	R150H	probably damaging	Het
Ros1	T	A	10: 52,042,175 (GRCm39)	Q250L	probably damaging	Het
Sgk2	A	G	2: 162,854,987 (GRCm39)	D366G	probably benign	Het
Shoc1	T	C	4: 59,076,155 (GRCm39)	D596G	probably benign	Het
Siglec1	A	T	2: 130,922,371 (GRCm39)	L568Q	probably benign	Het
Slain1	AT	ATT	14: 103,940,012 (GRCm39)		probably null	Het
Slc10a5	A	T	3: 10,399,375 (GRCm39)	Y428*	probably null	Het
Slc25a54	T	C	3: 109,010,085 (GRCm39)	W195R	probably damaging	Het
Slf1	A	G	13: 77,239,422 (GRCm39)	I414T	probably damaging	Het
Snx4	C	T	16: 33,087,236 (GRCm39)	P127L	probably damaging	Het
Spdl1	A	T	11: 34,714,191 (GRCm39)	L166H	not run	Het
Tapt1	C	T	5: 44,334,459 (GRCm39)	V511I	probably benign	Het
Tbata	A	G	10: 61,010,099 (GRCm39)		probably benign	Het
Tbx4	T	A	11: 85,802,835 (GRCm39)	V264E	probably damaging	Het
Tecta	A	T	9: 42,278,438 (GRCm39)	Y1023*	probably null	Het
Thop1	A	G	10: 80,911,465 (GRCm39)	D117G	probably damaging	Het
Trip12	A	G	1: 84,792,604 (GRCm39)	L13P	probably damaging	Het
Tut7	T	C	13: 59,969,616 (GRCm39)	N93S	probably benign	Het
Unc13b	T	A	4: 43,237,754 (GRCm39)	V637E	probably damaging	Het
Vinac1	G	T	2: 128,879,149 (GRCm39)	Q926K	unknown	Het
Yipf3	T	A	17: 46,561,566 (GRCm39)	M168K	probably damaging	Het
Zfp119a	A	T	17: 56,173,287 (GRCm39)	C185*	probably null	Het
Zfyve21	A	T	12: 111,791,485 (GRCm39)	I157F	possibly damaging	Het
Zfyve26	A	T	12: 79,286,828 (GRCm39)	D2253E	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
R4909:Pprc1	UTSW	19	46,052,758 (GRCm39)	missense	probably damaging	0.99
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
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'- TGTATCTCCCCAGCCGAAAC -3'
(R):5'- ACCAGAGTGAGTGAACCCAG -3'

Sequencing Primer
(F):5'- CACAAAGTGTCCACCTTGGTACAG -3'
(R):5'- AGTGAACCCAGGGAGCTGC -3'

Posted On

2019-09-13