Mutagenetix > Incidental Mutation

Incidental Mutation 'R9337:Pprc1'

707277

Institutional Source

Beutler Lab

Gene Symbol

Pprc1

Ensembl Gene

ENSMUSG00000055491

Gene Name

peroxisome proliferative activated receptor, gamma, coactivator-related 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9337 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46044955-46061348 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46052198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 576 (M576K)

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: M576K

SMART Domains

Protein: ENSMUSP00000079389
Gene: ENSMUSG00000055491
AA Change: M576K

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

possibly damaging
Transcript: ENSMUST00000099392
AA Change: M572K

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000096990
Gene: ENSMUSG00000055491
AA Change: M572K

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: M575K

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000107530
Gene: ENSMUSG00000055491
AA Change: M575K

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: 99.4%

Validation Efficiency

100% (65/65)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Adad1	T	C	3: 37,139,247 (GRCm39)	V439A	possibly damaging	Het
Ahnak	G	A	19: 8,989,824 (GRCm39)		probably benign	Het
Arhgef10l	G	A	4: 140,338,624 (GRCm39)	T46I	probably damaging	Het
C3ar1	A	G	6: 122,827,278 (GRCm39)	V313A	probably benign	Het
Capn13	T	A	17: 73,633,467 (GRCm39)		probably null	Het
Ccdc30	T	A	4: 119,190,920 (GRCm39)		probably null	Het
Ccdc7a	T	C	8: 129,616,319 (GRCm39)	Q928R	probably benign	Het
Cept1	A	G	3: 106,412,575 (GRCm39)	L299S	possibly damaging	Het
Clba1	T	C	12: 112,775,898 (GRCm39)	L218P	probably damaging	Het
Cnot1	T	C	8: 96,468,448 (GRCm39)	I1460M	probably damaging	Het
Col4a2	T	C	8: 11,479,346 (GRCm39)	L743P	probably benign	Het
Cop1	T	C	1: 159,072,221 (GRCm39)	V179A	probably benign	Het
Cpvl	A	G	6: 53,909,479 (GRCm39)	I219T	probably damaging	Het
Cyc1	T	C	15: 76,228,506 (GRCm39)	V45A	probably benign	Het
Dnhd1	T	A	7: 105,369,806 (GRCm39)	N4410K	probably benign	Het
Dok4	T	A	8: 95,593,469 (GRCm39)	T106S	probably benign	Het
Exosc10	T	C	4: 148,665,588 (GRCm39)	F842L	probably damaging	Het
Fam24b	T	A	7: 130,927,949 (GRCm39)	Y80F	probably benign	Het
Fbn2	G	A	18: 58,342,723 (GRCm39)	A52V	probably benign	Het
Gal3st3	A	T	19: 5,356,868 (GRCm39)	N81I	probably damaging	Het
Gm13283	T	A	4: 88,679,036 (GRCm39)	V9E	possibly damaging	Het
Gm17026	A	G	14: 42,080,873 (GRCm39)	S58P		Het
Grm8	A	T	6: 27,761,214 (GRCm39)	S337T	probably benign	Het
Hdac5	G	A	11: 102,096,178 (GRCm39)	P332S	probably damaging	Het
Hr	A	T	14: 70,797,324 (GRCm39)	E519V	probably benign	Het
Hspbap1	A	G	16: 35,645,395 (GRCm39)	H360R	probably benign	Het
Iqgap3	T	G	3: 88,023,425 (GRCm39)		probably null	Het
Krtap5-3	T	A	7: 141,756,267 (GRCm39)	H175Q	unknown	Het
Lrrn4	A	T	2: 132,712,552 (GRCm39)	S424T	probably benign	Het
Lsm10	C	A	4: 125,991,660 (GRCm39)	H5Q	probably damaging	Het
Megf10	A	T	18: 57,394,252 (GRCm39)	K459*	probably null	Het
Myo15b	A	C	11: 115,749,861 (GRCm39)	K210N		Het
Or12e7	T	A	2: 87,287,527 (GRCm39)	I6N	probably benign	Het
Or8k38	T	C	2: 86,488,476 (GRCm39)	T109A	probably benign	Het
Park7	A	T	4: 150,991,553 (GRCm39)	C46S	probably damaging	Het
Pik3cb	A	G	9: 98,943,844 (GRCm39)	F653S	probably damaging	Het
Plekha1	T	A	7: 130,511,348 (GRCm39)	C311S	possibly damaging	Het
Prelid3b	G	A	2: 174,310,161 (GRCm39)	T74M	probably benign	Het
Prg4	T	C	1: 150,327,116 (GRCm39)	Y311C	probably damaging	Het
Prom2	A	C	2: 127,371,094 (GRCm39)	V801G	probably damaging	Het
Psmd9	T	A	5: 123,386,387 (GRCm39)	V44D	probably damaging	Het
Ptpn3	C	G	4: 57,218,521 (GRCm39)	L647F	probably damaging	Het
Ptprj	T	C	2: 90,270,238 (GRCm39)	D1286G	probably damaging	Het
Rcc2	T	C	4: 140,445,689 (GRCm39)	I449T	probably damaging	Het
Rev3l	A	T	10: 39,698,850 (GRCm39)	S1116C	probably benign	Het
Rnf212	A	T	5: 108,922,755 (GRCm39)	S32T	possibly damaging	Het
Rnf40	T	A	7: 127,188,172 (GRCm39)	S2T	probably benign	Het
Rrp8	T	C	7: 105,383,384 (GRCm39)	D294G	probably damaging	Het
Rtf2	A	T	2: 172,308,205 (GRCm39)	K201N	probably damaging	Het
Runx3	A	G	4: 134,890,574 (GRCm39)	T173A	probably damaging	Het
Sardh	T	C	2: 27,086,678 (GRCm39)	I827M	probably benign	Het
Sec22b	T	C	3: 97,828,494 (GRCm39)	Y186H	probably benign	Het
Serpina5	C	T	12: 104,071,542 (GRCm39)	T383I	possibly damaging	Het
Slc12a2	A	G	18: 58,063,238 (GRCm39)	D906G	probably damaging	Het
Socs1	T	C	16: 10,602,578 (GRCm39)	D53G	possibly damaging	Het
Stat1	G	T	1: 52,191,429 (GRCm39)	A595S	probably benign	Het
Stat3	A	T	11: 100,798,815 (GRCm39)		probably null	Het
Styxl1	T	C	5: 135,794,592 (GRCm39)	S82G	probably benign	Het
Taf1b	T	A	12: 24,597,121 (GRCm39)	D353E	possibly damaging	Het
Tbce	T	C	13: 14,194,398 (GRCm39)	K87R	probably benign	Het
Thada	T	C	17: 84,749,205 (GRCm39)	M589V	probably benign	Het
Them5	A	G	3: 94,254,048 (GRCm39)	M257V	unknown	Het
Tln1	A	T	4: 43,532,927 (GRCm39)	I2425N	probably damaging	Het
Tuba8	A	G	6: 121,202,823 (GRCm39)	S379G	probably damaging	Het
Vrk1	T	C	12: 106,024,957 (GRCm39)		probably null	Het
Zbtb34	T	C	2: 33,301,716 (GRCm39)	Y275C	probably damaging	Het
Zcwpw1	T	C	5: 137,799,274 (GRCm39)	C214R	probably benign	Het
Zeb2	A	G	2: 44,912,912 (GRCm39)	V137A	probably benign	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
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
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'- GGCAGTTCACAGAAACAGCC -3'
(R):5'- GAAGTGGGAATAGCCACTGC -3'

Sequencing Primer
(F):5'- TTCAGAGAGAGGCTGCTGC -3'
(R):5'- GGAATAGCCACTGCAGGTTCAATTC -3'

Posted On

2022-04-18