Mutagenetix > Incidental Mutation

Incidental Mutation 'R7527:Pprc1'

583102

Institutional Source

Beutler Lab

Gene Symbol

Pprc1

Ensembl Gene

ENSMUSG00000055491

Gene Name

peroxisome proliferative activated receptor, gamma, coactivator-related 1

Synonyms

MMRRC Submission

045599-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7527 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46044955-46061348 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46057804 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1320 (S1320P)

Ref Sequence

ENSEMBL: ENSMUSP00000079389 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062322] [ENSMUST00000099392] [ENSMUST00000111899]

AlphaFold

Q6NZN1

Predicted Effect

unknown
Transcript: ENSMUST00000062322
AA Change: S1320P

SMART Domains

Protein: ENSMUSP00000079389
Gene: ENSMUSG00000055491
AA Change: S1320P

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

SMART Domains

Protein: ENSMUSP00000096990
Gene: ENSMUSG00000055491

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: S1318P

SMART Domains

Protein: ENSMUSP00000107530
Gene: ENSMUSG00000055491
AA Change: S1318P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,218,556 (GRCm39)		probably null	Het
Abcc10	A	G	17: 46,623,830 (GRCm39)	S810P	possibly damaging	Het
Adam22	T	C	5: 8,132,239 (GRCm39)	H138R	possibly damaging	Het
Adcyap1	T	A	17: 93,510,257 (GRCm39)	L95*	probably null	Het
Adgrl4	C	A	3: 151,144,887 (GRCm39)	T12N	probably benign	Het
Alpi	T	C	1: 87,026,677 (GRCm39)	N438S	probably benign	Het
Ankrd44	T	C	1: 54,687,483 (GRCm39)	N979D	probably benign	Het
Ankrd60	A	C	2: 173,419,966 (GRCm39)	S57A	probably benign	Het
Arfgef3	G	A	10: 18,522,377 (GRCm39)	P550S	probably benign	Het
Btbd16	A	T	7: 130,422,202 (GRCm39)	D390V	probably damaging	Het
Cacna2d4	T	C	6: 119,248,208 (GRCm39)	V374A	probably benign	Het
Cdcp1	A	T	9: 123,014,172 (GRCm39)	F201I	probably benign	Het
Cdh15	A	T	8: 123,588,865 (GRCm39)	D313V	probably damaging	Het
Cfap157	A	G	2: 32,669,890 (GRCm39)	L231P	possibly damaging	Het
Chl1	T	G	6: 103,688,162 (GRCm39)	C1001G	probably damaging	Het
Cmtr2	A	G	8: 110,948,770 (GRCm39)	H360R	probably damaging	Het
Csmd1	C	T	8: 16,261,732 (GRCm39)	A922T	probably damaging	Het
Fancg	C	T	4: 43,010,116 (GRCm39)		probably benign	Het
Glt8d2	A	T	10: 82,488,403 (GRCm39)	S356T	unknown	Het
Gm19410	T	A	8: 36,269,386 (GRCm39)	C1074S	probably damaging	Het
Gm9195	C	T	14: 72,711,310 (GRCm39)	C376Y	possibly damaging	Het
Gnai3	G	A	3: 108,025,693 (GRCm39)	R129C		Het
Golph3	T	G	15: 12,343,404 (GRCm39)		probably null	Het
H2bc18	T	A	3: 96,177,186 (GRCm39)	V40D	possibly damaging	Het
Hk1	C	A	10: 62,140,561 (GRCm39)	V105F	probably damaging	Het
Hoxd8	A	G	2: 74,536,001 (GRCm39)	Y37C	probably damaging	Het
Inava	T	A	1: 136,142,122 (GRCm39)	D659V	possibly damaging	Het
Jun	G	T	4: 94,939,234 (GRCm39)	P92Q	probably damaging	Het
Klhl14	C	T	18: 21,784,597 (GRCm39)	V277I	probably damaging	Het
Lrrc51	C	T	7: 101,569,843 (GRCm39)		probably null	Het
Man2c1	T	A	9: 57,045,100 (GRCm39)	Y429*	probably null	Het
Myo18a	T	A	11: 77,734,406 (GRCm39)	C1476S	probably benign	Het
Neb	G	C	2: 52,066,635 (GRCm39)	T6155R	probably damaging	Het
Niban3	C	G	8: 72,059,342 (GRCm39)	C568W	probably damaging	Het
Nuf2	T	C	1: 169,326,422 (GRCm39)	E443G	possibly damaging	Het
Or10j5	C	T	1: 172,784,511 (GRCm39)	H50Y	probably benign	Het
Or4c15	A	G	2: 88,760,434 (GRCm39)	V75A	probably benign	Het
Or5d37	A	T	2: 87,923,954 (GRCm39)	C109S	probably damaging	Het
Or7g32	A	G	9: 19,408,685 (GRCm39)	I214V	probably damaging	Het
Osmr	A	G	15: 6,856,603 (GRCm39)	S515P	probably damaging	Het
Pik3r5	T	C	11: 68,367,177 (GRCm39)	L84P	probably damaging	Het
Plcl1	T	C	1: 55,736,273 (GRCm39)	I538T	probably damaging	Het
Plxnb1	G	T	9: 108,929,929 (GRCm39)	V262L	probably damaging	Het
Pramel47	A	G	5: 95,490,409 (GRCm39)	D347G	probably benign	Het
Prap1	G	A	7: 139,676,120 (GRCm39)		probably null	Het
Psg23	A	T	7: 18,348,699 (GRCm39)	V36D	probably damaging	Het
Ptgr1	A	G	4: 58,982,887 (GRCm39)	Y49H	probably damaging	Het
Ptprr	A	G	10: 116,087,104 (GRCm39)	T528A	probably benign	Het
Rapgef6	T	C	11: 54,525,787 (GRCm39)	S541P	unknown	Het
Rnf17	A	T	14: 56,753,895 (GRCm39)	D1534V	probably damaging	Het
Sdk1	T	G	5: 141,778,731 (GRCm39)	S236R	possibly damaging	Het
Sepsecs	A	G	5: 52,801,393 (GRCm39)	M423T	possibly damaging	Het
Serpina1f	T	G	12: 103,658,167 (GRCm39)	Y246S	probably benign	Het
Sftpb	T	A	6: 72,282,048 (GRCm39)	V46E	possibly damaging	Het
Slc4a1ap	G	A	5: 31,691,475 (GRCm39)	V424I	probably benign	Het
Slc5a4b	G	A	10: 75,946,742 (GRCm39)	T10M	probably benign	Het
Slc6a16	T	C	7: 44,922,063 (GRCm39)	W664R	probably damaging	Het
Snx8	T	C	5: 140,341,827 (GRCm39)	E138G	probably benign	Het
Sox6	T	C	7: 115,376,408 (GRCm39)	E108G	probably benign	Het
Sptan1	A	T	2: 29,870,209 (GRCm39)	I120F	probably damaging	Het
Sptbn4	T	C	7: 27,075,015 (GRCm39)	E1452G	possibly damaging	Het
Stac2	T	A	11: 97,930,452 (GRCm39)	E372V	probably damaging	Het
Taco1	A	T	11: 105,962,795 (GRCm39)	I161F	probably damaging	Het
Taf1d	C	A	9: 15,220,133 (GRCm39)	D127E	possibly damaging	Het
Tenm2	T	A	11: 36,097,803 (GRCm39)	N482Y	probably damaging	Het
Tenm3	A	G	8: 48,729,635 (GRCm39)	V1457A	possibly damaging	Het
Tmem200c	A	T	17: 69,148,671 (GRCm39)	H418L	probably benign	Het
Tmem81	T	C	1: 132,435,884 (GRCm39)	V230A	probably benign	Het
Tnn	C	T	1: 159,946,074 (GRCm39)	V915I	possibly damaging	Het
Trav8d-2	A	T	14: 53,280,154 (GRCm39)	Y48F	possibly damaging	Het
Trpm2	T	C	10: 77,801,894 (GRCm39)	N57S	probably benign	Het
Ttn	G	A	2: 76,598,383 (GRCm39)	T19510M	probably damaging	Het
Ubl7	T	C	9: 57,820,167 (GRCm39)	L73P	unknown	Het
Uso1	A	G	5: 92,347,734 (GRCm39)	D845G	possibly damaging	Het
Utrn	G	T	10: 12,277,126 (GRCm39)	P3397Q	possibly damaging	Het
Vmn2r60	AG	A	7: 41,845,158 (GRCm39)		probably null	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
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'- TACAGCCTGCCTCCAAGAAG -3'
(R):5'- TGCAGGCTTTTCGGTAACAGC -3'

Sequencing Primer
(F):5'- TCCAAGAAGGGGCCCACAG -3'
(R):5'- TTCGGTAACAGCGCATTGAC -3'

Posted On

2019-10-17