Mutagenetix > Incidental Mutation

Incidental Mutation 'R7632:Pprc1'

589730

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 #

R7632 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46044886-46072915 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46072282 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1595 (D1595E)

Ref Sequence

ENSEMBL: ENSMUSP00000079389 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062322] [ENSMUST00000099392] [ENSMUST00000111899] [ENSMUST00000165017] [ENSMUST00000223728] [ENSMUST00000223741] [ENSMUST00000224490] [ENSMUST00000225780]

AlphaFold

Q6NZN1

Predicted Effect

probably damaging
Transcript: ENSMUST00000062322
AA Change: D1595E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000079389
Gene: ENSMUSG00000055491
AA Change: D1595E

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

probably damaging
Transcript: ENSMUST00000111899
AA Change: D1593E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107530
Gene: ENSMUSG00000055491
AA Change: D1593E

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: ENSMUST00000165017

SMART Domains

Protein: ENSMUSP00000128331
Gene: ENSMUSG00000015176

Domain	Start	End	E-Value	Type
LisH	10	42	2.3e-2	SMART
low complexity region	76	100	N/A	INTRINSIC
low complexity region	123	187	N/A	INTRINSIC
low complexity region	189	210	N/A	INTRINSIC
low complexity region	224	272	N/A	INTRINSIC
low complexity region	273	285	N/A	INTRINSIC
low complexity region	297	313	N/A	INTRINSIC
low complexity region	315	328	N/A	INTRINSIC
low complexity region	329	342	N/A	INTRINSIC
low complexity region	353	383	N/A	INTRINSIC
low complexity region	429	470	N/A	INTRINSIC
low complexity region	472	486	N/A	INTRINSIC
low complexity region	489	501	N/A	INTRINSIC
low complexity region	509	538	N/A	INTRINSIC
low complexity region	558	579	N/A	INTRINSIC
Pfam:SRP40_C	627	699	1.1e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000223683

Predicted Effect

probably benign
Transcript: ENSMUST00000223728

Predicted Effect

probably benign
Transcript: ENSMUST00000223741

Predicted Effect

probably benign
Transcript: ENSMUST00000224490

Predicted Effect

probably benign
Transcript: ENSMUST00000225780

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

95% (63/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap2a2	A	G	7: 141,631,323	D924G	probably benign	Het
Armh1	C	A	4: 117,213,741	A396S	probably benign	Het
Atrnl1	A	G	19: 57,630,306	D152G	probably damaging	Het
B3gnt8	A	G	7: 25,628,435	I97V	possibly damaging	Het
Bach1	A	G	16: 87,720,143	D524G	probably benign	Het
BC067074	C	A	13: 113,320,886	S1155R		Het
Caprin2	T	C	6: 148,883,456	S107G	probably damaging	Het
Ccnb1	A	G	13: 100,781,701	I207T	probably benign	Het
Cdh11	T	C	8: 102,673,883	D151G	probably damaging	Het
Cdh9	A	G	15: 16,851,029		probably null	Het
Cep83	A	T	10: 94,750,640	R433W	probably damaging	Het
D3Ertd751e	A	G	3: 41,753,728	E100G	probably benign	Het
Dchs2	C	T	3: 83,348,050	A2351V	probably benign	Het
Dhx40	T	C	11: 86,799,437	T253A	probably benign	Het
Dqx1	A	G	6: 83,059,699	D228G	probably benign	Het
Dync1h1	T	C	12: 110,660,893	M4002T	probably benign	Het
Flcn	C	T	11: 59,795,799	W376*	probably null	Het
Flnc	A	T	6: 29,446,985	Y1037F	probably damaging	Het
Fut11	T	A	14: 20,695,028	V9E	probably benign	Het
Fv1	T	A	4: 147,869,935	N319K	possibly damaging	Het
Ghrhr	G	T	6: 55,384,742	G298V	probably benign	Het
Gm5800	T	A	14: 51,716,448		probably null	Het
Grin2b	A	G	6: 135,732,555	M1331T	probably benign	Het
Hyou1	A	G	9: 44,381,136		probably null	Het
Igkv1-117	C	A	6: 68,121,808	Q114K	probably damaging	Het
Igkv4-68	A	G	6: 69,305,064	V41A	possibly damaging	Het
Inpp4b	A	G	8: 82,046,339	N754S	probably damaging	Het
Isl2	G	A	9: 55,541,156		probably null	Het
Kat2a	G	A	11: 100,708,596	Q523*	probably null	Het
Lypd3	T	C	7: 24,638,440	F77S	possibly damaging	Het
Map4k2	T	C	19: 6,344,054	L297P	probably benign	Het
Naca	T	C	10: 128,040,506	V469A	unknown	Het
Notch3	C	T	17: 32,158,506	V199I	probably benign	Het
Olfr1294	T	C	2: 111,538,176	I38V	possibly damaging	Het
Olfr1475	T	C	19: 13,479,431	M256V	possibly damaging	Het
Pabpc1	TGTACCTGTTGCATGGTA	TGTA	15: 36,597,968		probably null	Het
Pcdhb8	A	T	18: 37,355,595	I109L	probably benign	Het
Pde2a	A	G	7: 101,484,594	D104G	possibly damaging	Het
Phip	A	G	9: 82,903,190	V824A	probably benign	Het
Plekhg4	T	C	8: 105,380,150	Y853H	probably damaging	Het
Plod1	T	C	4: 147,927,024	K248R	probably damaging	Het
Plxnd1	A	T	6: 115,976,639	Y656N	probably benign	Het
Pogz	G	A	3: 94,856,206		probably null	Het
Ppp1r3e	T	A	14: 54,877,069	S79C	probably damaging	Het
Ptprq	A	G	10: 107,711,922	V205A	probably benign	Het
Rad51ap2	T	C	12: 11,457,115	V346A	possibly damaging	Het
Rgs12	T	A	5: 34,965,590	L239H	probably damaging	Het
Rrp8	T	C	7: 105,736,520		probably benign	Het
Rsf1	GGCG	GGCGACCGCCGCG	7: 97,579,906		probably benign	Het
Scaf1	A	T	7: 45,007,079	V792D	unknown	Het
Scrn2	G	T	11: 97,033,142	R284L	possibly damaging	Het
Sgsm1	T	A	5: 113,276,082	Q461L	possibly damaging	Het
Slc18b1	A	G	10: 23,826,182	T434A	probably benign	Het
Sltm	C	G	9: 70,586,673	P802R	possibly damaging	Het
Smc4	CTA	CTATA	3: 69,018,067		probably benign	Het
Snx33	A	T	9: 56,926,418	D122E	probably damaging	Het
Srebf2	G	T	15: 82,185,296	V680L	probably benign	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638		probably benign	Het
Tecpr1	C	T	5: 144,218,726	V5M	probably benign	Het
Tfg	A	G	16: 56,712,634	V54A	possibly damaging	Het
Tmem237	C	T	1: 59,116,901	C30Y	probably benign	Het
Tmem245	T	C	4: 56,916,787	K444R	probably benign	Het
Trim25	T	G	11: 89,015,776	L446R	probably null	Het
Usp37	T	C	1: 74,468,374	T495A	probably benign	Het
Vmn1r94	T	G	7: 20,167,771	T203P	probably damaging	Het
Ywhah	T	A	5: 33,026,666	M71K	probably benign	Het

Other mutations in Pprc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Pprc1	APN	19	46062648	missense	possibly damaging	0.93
IGL00825:Pprc1	APN	19	46071406	unclassified	probably benign
IGL01445:Pprc1	APN	19	46065232	unclassified	probably benign
IGL01449:Pprc1	APN	19	46065232	unclassified	probably benign
IGL01475:Pprc1	APN	19	46071529	missense	probably benign	0.03
IGL01750:Pprc1	APN	19	46071829	unclassified	probably benign
IGL01779:Pprc1	APN	19	46062202	missense	probably damaging	1.00
IGL01943:Pprc1	APN	19	46064544	unclassified	probably benign
IGL02031:Pprc1	APN	19	46072343	unclassified	probably benign
IGL02145:Pprc1	APN	19	46064890	unclassified	probably benign
IGL02206:Pprc1	APN	19	46071751	missense	probably damaging	0.98
IGL02439:Pprc1	APN	19	46072319	missense	possibly damaging	0.94
IGL02675:Pprc1	APN	19	46063507	missense	probably damaging	1.00
IGL03185:Pprc1	APN	19	46069747	intron	probably benign
IGL03325:Pprc1	APN	19	46061509	missense	possibly damaging	0.86
R0125:Pprc1	UTSW	19	46069512	intron	probably benign
R0388:Pprc1	UTSW	19	46062775	missense	possibly damaging	0.85
R0498:Pprc1	UTSW	19	46071568	nonsense	probably null
R1129:Pprc1	UTSW	19	46063806	missense	probably benign	0.35
R1439:Pprc1	UTSW	19	46063736	missense	possibly damaging	0.94
R1536:Pprc1	UTSW	19	46071526	unclassified	probably benign
R4551:Pprc1	UTSW	19	46067225	unclassified	probably benign
R4698:Pprc1	UTSW	19	46069195	intron	probably benign
R4822:Pprc1	UTSW	19	46071356	unclassified	probably benign
R4909:Pprc1	UTSW	19	46064319	missense	probably damaging	0.99
R4931:Pprc1	UTSW	19	46071316	unclassified	probably benign
R5132:Pprc1	UTSW	19	46072682	unclassified	probably benign
R5157:Pprc1	UTSW	19	46064758	unclassified	probably benign
R5834:Pprc1	UTSW	19	46065220	unclassified	probably benign
R5938:Pprc1	UTSW	19	46071316	unclassified	probably benign
R5947:Pprc1	UTSW	19	46063672	missense	possibly damaging	0.85
R5975:Pprc1	UTSW	19	46065370	unclassified	probably benign
R6009:Pprc1	UTSW	19	46071732	missense	probably damaging	1.00
R6259:Pprc1	UTSW	19	46064410	missense	probably damaging	0.97
R6954:Pprc1	UTSW	19	46064433	missense	probably damaging	0.96
R7287:Pprc1	UTSW	19	46071354	missense	unknown
R7355:Pprc1	UTSW	19	46065346	missense	unknown
R7527:Pprc1	UTSW	19	46069365	missense	unknown
R7745:Pprc1	UTSW	19	46065342	missense	unknown
R7896:Pprc1	UTSW	19	46061449	missense	unknown
R8904:Pprc1	UTSW	19	46071744	missense	possibly damaging	0.92
R8966:Pprc1	UTSW	19	46065679	missense	unknown
R9261:Pprc1	UTSW	19	46062429	missense	unknown
R9337:Pprc1	UTSW	19	46063759	missense	unknown
R9509:Pprc1	UTSW	19	46063399	missense	unknown
R9513:Pprc1	UTSW	19	46068061	nonsense	probably null
R9728:Pprc1	UTSW	19	46072200	missense	probably damaging	1.00
R9761:Pprc1	UTSW	19	46061559	missense	unknown
Z1177:Pprc1	UTSW	19	46062406	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ATCAGAAGGTTGGCCATTGGG -3'
(R):5'- ACCACACTTCTCAAATGGGAGC -3'

Sequencing Primer
(F):5'- GGAAATGAGAAGAAACACCTCTGTGC -3'
(R):5'- CACTTCTCAAATGGGAGCCATGG -3'

Posted On

2019-10-24