Mutagenetix > Incidental Mutation

Incidental Mutation 'R2228:Ppp1r3c'

239888

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r3c

Ensembl Gene

ENSMUSG00000067279

Gene Name

protein phosphatase 1, regulatory subunit 3C

Synonyms

protein targeting to glicogen, Ppp1r5, PTG

MMRRC Submission

040229-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2228 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36709131-36714004 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 36711098 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 224 (R224L)

Ref Sequence

ENSEMBL: ENSMUSP00000084578 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087321]

AlphaFold

Q7TMB3

Predicted Effect

probably benign
Transcript: ENSMUST00000087321
AA Change: R224L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000084578
Gene: ENSMUSG00000067279
AA Change: R224L

Domain	Start	End	E-Value	Type
low complexity region	115	128	N/A	INTRINSIC
Pfam:CBM_21	151	257	5.5e-38	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a carbohydrate binding protein that is a subunit of the protein phosphatase 1 (PP1) complex. PP1 catalyzes reversible protein phosphorylation, which is important in a wide range of cellular activities. The encoded protein affects glycogen biosynthesis by activating glycogen synthase and limiting glycogen breakdown by reducing glycogen phosphorylase activity. DNA hypermethylation of this gene has been found in colorectal cancer patients. The encoded protein also interacts with the laforin protein, which is a protein tyrosine phosphatase implicated in Lafora disease. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygous null mice are embyronic lethal. Heterozygotes have reduced glycogen stores, attenuated glycogen synthesis, glucose intolerance, hyperinsulinemia and insulin resistance. Mice homozygous for a different knock-out allele exhibit normal lifespan with enhanced whole body insulin sensitivity. [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
4932414N04Rik	A	G	2: 68,559,935 (GRCm39)	T242A	probably benign	Het
Adam24	A	T	8: 41,133,404 (GRCm39)	I291L	probably benign	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Adcy8	C	A	15: 64,694,056 (GRCm39)	R407L	possibly damaging	Het
Aldh3b2	C	T	19: 4,031,133 (GRCm39)	P461S	probably benign	Het
Araf	T	C	X: 20,717,912 (GRCm39)	F144L	probably benign	Het
Atp11b	G	T	3: 35,861,091 (GRCm39)	D193Y	probably damaging	Het
Atp6v1b2	C	A	8: 69,555,411 (GRCm39)		probably null	Het
Bclaf1	T	A	10: 20,215,624 (GRCm39)		probably benign	Het
Cadps	A	G	14: 12,465,935 (GRCm38)	Y987H	probably benign	Het
Capn6	T	G	X: 142,587,785 (GRCm39)	T498P	possibly damaging	Het
Ccdc153	T	A	9: 44,154,314 (GRCm39)	L47Q	probably damaging	Het
Ccdc180	G	T	4: 45,948,856 (GRCm39)		probably null	Het
Cep162	G	T	9: 87,126,384 (GRCm39)	T176K	probably benign	Het
Cpsf2	A	G	12: 101,956,088 (GRCm39)	D297G	probably benign	Het
Entpd8	T	C	2: 24,975,028 (GRCm39)	M453T	probably damaging	Het
Eprs1	T	A	1: 185,099,734 (GRCm39)	L18Q	probably damaging	Het
Fem1b	G	T	9: 62,704,020 (GRCm39)	C413*	probably null	Het
Flrt1	T	A	19: 7,072,723 (GRCm39)	D608V	probably damaging	Het
Fstl5	C	A	3: 76,389,659 (GRCm39)	N285K	probably damaging	Het
Golga1	T	C	2: 38,913,183 (GRCm39)	D543G	probably benign	Het
Hivep2	A	G	10: 14,004,107 (GRCm39)	H235R	probably damaging	Het
Htr2c	G	C	X: 145,977,186 (GRCm39)	W325C	probably damaging	Het
Htr2c	G	T	X: 145,977,188 (GRCm39)	C326F	probably damaging	Het
Ifit1bl2	G	T	19: 34,596,630 (GRCm39)	L329M	possibly damaging	Het
Igsf9b	T	C	9: 27,244,792 (GRCm39)	S920P	probably damaging	Het
Macroh2a1	C	T	13: 56,232,075 (GRCm39)	G235S	probably damaging	Het
Mcm8	T	A	2: 132,662,041 (GRCm39)	I125K	possibly damaging	Het
Micall1	C	T	15: 79,014,036 (GRCm39)	R644W	probably damaging	Het
Myo16	G	A	8: 10,644,905 (GRCm39)	D1746N	possibly damaging	Het
Myo9a	A	G	9: 59,801,463 (GRCm39)	E1887G	probably benign	Het
Nbn	A	G	4: 15,970,904 (GRCm39)	T296A	probably benign	Het
Nckap1l	T	C	15: 103,364,361 (GRCm39)		probably null	Het
Neb	T	C	2: 52,123,007 (GRCm39)	R3734G	probably benign	Het
Nup93	C	T	8: 95,030,819 (GRCm39)	T305I	probably benign	Het
Or5bw2	A	T	7: 6,573,802 (GRCm39)	M271L	probably benign	Het
P2ry4	A	G	X: 99,637,553 (GRCm39)	L115P	probably damaging	Het
Pmepa1	G	A	2: 173,069,926 (GRCm39)	R210W	probably damaging	Het
Ppp1r26	T	C	2: 28,343,798 (GRCm39)	F1143L	possibly damaging	Het
Ptafr	T	G	4: 132,306,691 (GRCm39)	I27R	possibly damaging	Het
Pwwp2b	T	C	7: 138,835,104 (GRCm39)	C182R	probably damaging	Het
Reln	A	G	5: 22,192,076 (GRCm39)	F1455L	possibly damaging	Het
Rufy1	C	T	11: 50,288,611 (GRCm39)		probably null	Het
Samd9l	T	C	6: 3,376,910 (GRCm39)	H117R	probably benign	Het
Sfxn4	C	T	19: 60,839,458 (GRCm39)	G200E	probably damaging	Het
Sipa1l3	T	A	7: 29,077,364 (GRCm39)	K803*	probably null	Het
Smim23	C	A	11: 32,771,870 (GRCm39)	Q65H	probably damaging	Het
Spata18	A	T	5: 73,824,244 (GRCm39)	I156L	possibly damaging	Het
Sppl2b	G	A	10: 80,701,451 (GRCm39)	V389M	probably damaging	Het
Srbd1	T	C	17: 86,292,651 (GRCm39)	I973V	probably damaging	Het
Ssx2ip	C	T	3: 146,123,531 (GRCm39)	P10L	probably damaging	Het
Taf2	A	C	15: 54,928,042 (GRCm39)	D120E	possibly damaging	Het
Tanc1	T	C	2: 59,555,068 (GRCm39)	L42S	probably benign	Het
Tex15	C	A	8: 34,061,265 (GRCm39)	H232N	probably benign	Het
Tg	A	T	15: 66,545,860 (GRCm39)	Q194L	probably damaging	Het
Tnfrsf22	C	T	7: 143,198,513 (GRCm39)		probably null	Het
Tro	A	T	X: 149,438,477 (GRCm39)	M60K	probably benign	Het
Ttc38	G	A	15: 85,728,704 (GRCm39)	V219I	probably benign	Het
U2af2	T	C	7: 5,078,672 (GRCm39)	I417T	probably damaging	Het
Ube2r2	C	T	4: 41,174,044 (GRCm39)	H61Y	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn1r113	C	T	7: 20,521,832 (GRCm39)	S208F	probably damaging	Het
Wdr35	A	G	12: 9,024,955 (GRCm39)	K16E	possibly damaging	Het
Wwp1	A	T	4: 19,641,745 (GRCm39)	Y437N	probably damaging	Het
Zdhhc4	A	C	5: 143,306,162 (GRCm39)	W189G	probably damaging	Het
Zfp512	A	T	5: 31,622,919 (GRCm39)	K73N	probably damaging	Het

Other mutations in Ppp1r3c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Ppp1r3c	APN	19	36,711,503 (GRCm39)	missense	probably damaging	1.00
IGL00486:Ppp1r3c	APN	19	36,711,324 (GRCm39)	missense	probably damaging	1.00
IGL01865:Ppp1r3c	APN	19	36,711,578 (GRCm39)	missense	probably benign	0.00
IGL02896:Ppp1r3c	APN	19	36,710,865 (GRCm39)	missense	probably benign	0.26
R0110:Ppp1r3c	UTSW	19	36,711,617 (GRCm39)	missense	possibly damaging	0.66
R0450:Ppp1r3c	UTSW	19	36,711,617 (GRCm39)	missense	possibly damaging	0.66
R0456:Ppp1r3c	UTSW	19	36,711,291 (GRCm39)	nonsense	probably null
R0469:Ppp1r3c	UTSW	19	36,711,617 (GRCm39)	missense	possibly damaging	0.66
R1539:Ppp1r3c	UTSW	19	36,711,361 (GRCm39)	missense	probably benign
R1859:Ppp1r3c	UTSW	19	36,711,011 (GRCm39)	missense	probably damaging	1.00
R2229:Ppp1r3c	UTSW	19	36,711,098 (GRCm39)	missense	probably benign
R4534:Ppp1r3c	UTSW	19	36,711,522 (GRCm39)	missense	probably damaging	1.00
R4535:Ppp1r3c	UTSW	19	36,711,522 (GRCm39)	missense	probably damaging	1.00
R4619:Ppp1r3c	UTSW	19	36,711,743 (GRCm39)	missense	possibly damaging	0.94
R4630:Ppp1r3c	UTSW	19	36,710,915 (GRCm39)	missense	probably benign	0.02
R6015:Ppp1r3c	UTSW	19	36,711,206 (GRCm39)	missense	probably damaging	1.00
R8206:Ppp1r3c	UTSW	19	36,710,846 (GRCm39)	missense	probably benign	0.10
R8386:Ppp1r3c	UTSW	19	36,711,338 (GRCm39)	missense	probably damaging	1.00
R8966:Ppp1r3c	UTSW	19	36,711,736 (GRCm39)	missense	probably benign	0.04
R9540:Ppp1r3c	UTSW	19	36,711,461 (GRCm39)	missense	probably benign	0.30
R9629:Ppp1r3c	UTSW	19	36,711,404 (GRCm39)	missense	probably benign	0.01
Z1177:Ppp1r3c	UTSW	19	36,711,318 (GRCm39)	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- AAAGACTGTGGGCTCTATCTCAG -3'
(R):5'- CCTCGAGAACTGCTCTTTGC -3'

Sequencing Primer
(F):5'- TATCTCAGTCTTAGGGGGCCC -3'
(R):5'- CTTTGCAAGATCGGACGGTGAC -3'

Posted On

2014-10-15