Mutagenetix > Incidental Mutation

Incidental Mutation 'R9261:Pprc1'

702285

Institutional Source

Beutler Lab

Gene Symbol

Pprc1

Ensembl Gene

ENSMUSG00000055491

Gene Name

peroxisome proliferative activated receptor, gamma, coactivator-related 1

Synonyms

MMRRC Submission

068990-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9261 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46044955-46061348 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46050868 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 169 (T169A)

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: T169A

SMART Domains

Protein: ENSMUSP00000079389
Gene: ENSMUSG00000055491
AA Change: T169A

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: T168A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000096990
Gene: ENSMUSG00000055491
AA Change: T168A

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

possibly damaging
Transcript: ENSMUST00000111899
AA Change: T168A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000107530
Gene: ENSMUSG00000055491
AA Change: T168A

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

possibly damaging
Transcript: ENSMUST00000126127
AA Change: T91A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000135327
AA Change: T91A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

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: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (73/73)

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
Adamts7	A	G	9: 90,075,397 (GRCm39)	E1043G	probably benign	Het
Agps	T	G	2: 75,684,850 (GRCm39)		probably benign	Het
Ahnak	A	G	19: 8,993,503 (GRCm39)	E4929G	possibly damaging	Het
Arl6ip4	T	A	5: 124,256,146 (GRCm39)		probably benign	Het
Cdhr17	T	C	5: 17,006,547 (GRCm39)	L88P	possibly damaging	Het
Clca3a2	G	T	3: 144,525,158 (GRCm39)	H25N	probably benign	Het
Cubn	C	T	2: 13,283,262 (GRCm39)	D3559N	probably damaging	Het
Dmac2	T	A	7: 25,320,345 (GRCm39)	W15R	probably benign	Het
Dzank1	T	C	2: 144,355,344 (GRCm39)	E117G	probably benign	Het
Eml2	A	G	7: 18,913,743 (GRCm39)	T187A	probably benign	Het
Eml5	A	G	12: 98,822,287 (GRCm39)	V747A	probably damaging	Het
Esr1	T	A	10: 4,919,271 (GRCm39)	S454T	probably damaging	Het
Evc2	A	G	5: 37,537,895 (GRCm39)	T528A	probably benign	Het
Fbxo5	T	C	10: 5,752,325 (GRCm39)	N96S	probably damaging	Het
Fcnb	T	C	2: 27,969,636 (GRCm39)	T144A	probably damaging	Het
Fgf20	T	A	8: 40,739,951 (GRCm39)		probably benign	Het
Gcg	T	C	2: 62,306,408 (GRCm39)		probably benign	Het
Gfm2	T	A	13: 97,299,369 (GRCm39)	Y363*	probably null	Het
Grwd1	C	T	7: 45,475,381 (GRCm39)	R387Q	probably benign	Het
Gstt2	C	T	10: 75,669,511 (GRCm39)	D59N	possibly damaging	Het
Herc1	A	G	9: 66,412,129 (GRCm39)	N4783S	probably damaging	Het
Hydin	C	A	8: 110,994,047 (GRCm39)	A27E	unknown	Het
Iigp1c	T	A	18: 60,353,820 (GRCm39)		probably benign	Het
Ikbip	A	G	10: 90,932,249 (GRCm39)	T298A	possibly damaging	Het
Il1rap	A	G	16: 26,541,724 (GRCm39)	N655S	possibly damaging	Het
Kif21b	C	T	1: 136,077,162 (GRCm39)	R395C	probably damaging	Het
Kif3a	ATTGACG	A	11: 53,484,248 (GRCm39)		probably benign	Het
Klhl40	A	G	9: 121,609,002 (GRCm39)	D389G	probably benign	Het
Ly6g	A	G	15: 75,030,529 (GRCm39)	T116A	probably damaging	Het
Mast2	A	G	4: 116,165,900 (GRCm39)	L1276P	probably damaging	Het
Mitf	A	G	6: 97,990,704 (GRCm39)	Q369R	possibly damaging	Het
Mtus2	T	A	5: 148,243,453 (GRCm39)	Y192*	probably null	Het
Nav1	T	A	1: 135,388,095 (GRCm39)	E1109D	unknown	Het
Nav2	A	G	7: 49,246,904 (GRCm39)	E2143G	probably damaging	Het
Nedd4	A	G	9: 72,584,656 (GRCm39)	Q119R	possibly damaging	Het
Nek9	A	G	12: 85,359,841 (GRCm39)	V537A	probably damaging	Het
Notum	G	T	11: 120,550,974 (GRCm39)	T64K		Het
Nudcd2	A	G	11: 40,630,026 (GRCm39)	N144S	probably damaging	Het
Nup205	A	G	6: 35,176,792 (GRCm39)	E596G	probably benign	Het
Olfml1	T	A	7: 107,167,007 (GRCm39)	L12Q	possibly damaging	Het
Or4f60	T	A	2: 111,902,718 (GRCm39)	D70V	probably damaging	Het
Or51k1	C	T	7: 103,661,336 (GRCm39)	C191Y	probably damaging	Het
Or52n2c	A	T	7: 104,574,305 (GRCm39)	M222K	probably benign	Het
Or56b2	T	A	7: 104,337,260 (GRCm39)	F13I	probably benign	Het
Or6b13	A	G	7: 139,782,563 (GRCm39)	V40A	probably benign	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Padi4	T	C	4: 140,479,926 (GRCm39)	N409S	probably damaging	Het
Pam	T	A	1: 97,903,620 (GRCm39)	T38S	probably benign	Het
Piezo2	T	C	18: 63,208,868 (GRCm39)	I1382V	possibly damaging	Het
Pla2g12a	A	T	3: 129,684,080 (GRCm39)	Q153L	possibly damaging	Het
Pla2g4e	T	A	2: 120,019,910 (GRCm39)	H180L	probably benign	Het
Pou2af2	T	A	9: 51,202,998 (GRCm39)	H52L	probably benign	Het
Prrc2c	A	G	1: 162,505,622 (GRCm39)	I2592T	possibly damaging	Het
Ptchd3	T	A	11: 121,722,956 (GRCm39)	I348N	probably damaging	Het
Ralgps1	T	C	2: 33,226,571 (GRCm39)	D40G	probably damaging	Het
Rbm19	T	C	5: 120,256,810 (GRCm39)	F41S	probably damaging	Het
Rbsn	T	C	6: 92,166,797 (GRCm39)	M616V	probably benign	Het
Ryr1	A	T	7: 28,751,813 (GRCm39)	M3660K	possibly damaging	Het
Sidt2	A	T	9: 45,861,396 (GRCm39)	V246E	probably damaging	Het
Slc4a4	T	C	5: 89,347,568 (GRCm39)	W770R	probably damaging	Het
Spata31d1c	T	A	13: 65,184,680 (GRCm39)	S741T	probably damaging	Het
Stk19	T	G	17: 35,051,432 (GRCm39)	Y108S	possibly damaging	Het
Stox2	T	C	8: 47,645,441 (GRCm39)	E673G	possibly damaging	Het
Tax1bp1	T	A	6: 52,714,116 (GRCm39)	C271S	probably benign	Het
Tmem161a	C	A	8: 70,631,572 (GRCm39)	R167S	probably damaging	Het
Tnrc6c	T	A	11: 117,605,105 (GRCm39)	V80E	probably damaging	Het
Trpa1	G	A	1: 14,963,465 (GRCm39)	H586Y	probably damaging	Het
Tsr1	A	G	11: 74,799,056 (GRCm39)	T746A	probably damaging	Het
Uqcrfs1	T	C	13: 30,724,794 (GRCm39)	I249V	probably damaging	Het
Vmn2r84	C	A	10: 130,229,976 (GRCm39)	E45D	probably benign	Het
Vnn3	A	G	10: 23,741,607 (GRCm39)	E304G	probably damaging	Het
Zfp541	G	A	7: 15,816,029 (GRCm39)	V839M	possibly damaging	Het
Zfp62	A	G	11: 49,108,350 (GRCm39)	K814E	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
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'- TTCCTGATTCAGAGCTGCTCG -3'
(R):5'- AAGTCCCATGGAGAGTCTGC -3'

Sequencing Primer
(F):5'- GATTCAGAGCTGCTCGTGTCC -3'
(R):5'- TCCCATGGAGAGTCTGCAAGAG -3'

Posted On

2022-03-25