Mutagenetix > Incidental Mutation

Incidental Mutation 'R0450:Ppp1r3c'

39644

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

038650-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0450 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36709131-36714004 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36711617 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 51 (F51Y)

Ref Sequence

ENSEMBL: ENSMUSP00000084578 (fasta)

Gene Model

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

AlphaFold

Q7TMB3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000087321
AA Change: F51Y

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000084578
Gene: ENSMUSG00000067279
AA Change: F51Y

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

0.0692

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 94.2%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	G	A	2: 127,722,423 (GRCm39)		probably null	Het
AI606181	A	C	19: 41,582,170 (GRCm39)	K113N	unknown	Het
Ankrd11	T	C	8: 123,618,914 (GRCm39)	D1646G	possibly damaging	Het
Ap2m1	T	A	16: 20,360,990 (GRCm39)	I334N	possibly damaging	Het
Arih2	T	A	9: 108,482,291 (GRCm39)	H490L	possibly damaging	Het
Ccdc168	T	A	1: 44,100,257 (GRCm39)	K280N	possibly damaging	Het
Cdhr1	T	C	14: 36,802,633 (GRCm39)	Y610C	probably damaging	Het
Cdkal1	C	A	13: 29,875,579 (GRCm39)		probably null	Het
Cep76	A	T	18: 67,767,850 (GRCm39)	N227K	probably benign	Het
Clca4b	A	T	3: 144,619,112 (GRCm39)	Y676N	probably damaging	Het
Cog2	T	C	8: 125,255,797 (GRCm39)		probably null	Het
Col6a4	A	T	9: 105,957,746 (GRCm39)	V26D	probably damaging	Het
Dcaf11	T	C	14: 55,806,537 (GRCm39)	V446A	probably damaging	Het
Dync1h1	C	A	12: 110,606,378 (GRCm39)	Q2483K	probably benign	Het
Enpp3	A	T	10: 24,652,679 (GRCm39)	D759E	probably damaging	Het
Etfbkmt	C	T	6: 149,052,082 (GRCm39)	R96W	probably benign	Het
Fam83a	C	A	15: 57,873,322 (GRCm39)	Q384K	probably benign	Het
Glipr1l2	A	G	10: 111,928,477 (GRCm39)	D124G	probably benign	Het
Gucy2e	T	C	11: 69,126,402 (GRCm39)	D326G	probably benign	Het
Hnrnph3	T	A	10: 62,853,994 (GRCm39)	R41S	probably benign	Het
Hnrnph3	T	A	10: 62,855,279 (GRCm39)	D2V	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Itpr2	T	C	6: 146,319,477 (GRCm39)	T188A	possibly damaging	Het
Krt23	T	A	11: 99,377,608 (GRCm39)	I133L	probably damaging	Het
Krt74	T	C	15: 101,671,751 (GRCm39)		noncoding transcript	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Map1a	A	T	2: 121,136,255 (GRCm39)	H2357L	probably benign	Het
Mbl1	A	G	14: 40,880,706 (GRCm39)	N198S	probably damaging	Het
Mcf2l	A	G	8: 13,047,337 (GRCm39)	D233G	probably damaging	Het
Mdga2	T	C	12: 66,517,700 (GRCm39)	K45E	possibly damaging	Het
Mdn1	A	G	4: 32,738,619 (GRCm39)	N3524S	probably benign	Het
Mospd3	A	G	5: 137,595,294 (GRCm39)	L233P	probably damaging	Het
Msto1	A	G	3: 88,818,848 (GRCm39)	L269P	probably benign	Het
Or4a39	A	T	2: 89,237,135 (GRCm39)	M96K	probably damaging	Het
Or5p5	T	C	7: 107,413,895 (GRCm39)	Y35H	probably damaging	Het
Or5w15	A	G	2: 87,567,825 (GRCm39)	V281A	probably damaging	Het
Or8b12i	T	C	9: 20,082,561 (GRCm39)	Y102C	probably benign	Het
Or8g27	G	A	9: 39,129,024 (GRCm39)	V124I	possibly damaging	Het
Parp2	T	A	14: 51,057,130 (GRCm39)	Y361N	probably damaging	Het
Pcf11	G	A	7: 92,307,039 (GRCm39)	P1043L	probably damaging	Het
Phf24	G	T	4: 42,933,761 (GRCm39)	V48L	possibly damaging	Het
Pkn1	C	A	8: 84,398,953 (GRCm39)	C678F	probably damaging	Het
Plcl2	T	C	17: 50,915,010 (GRCm39)	L673P	probably damaging	Het
Rem2	T	C	14: 54,713,754 (GRCm39)		probably benign	Het
Smpdl3b	A	G	4: 132,472,449 (GRCm39)	V108A	probably damaging	Het
Sncaip	A	G	18: 53,001,781 (GRCm39)	T101A	probably benign	Het
Stk11	T	C	10: 79,961,920 (GRCm39)	V47A	probably damaging	Het
Tmpo	A	C	10: 90,998,958 (GRCm39)	I276M	probably benign	Het
Trim55	G	T	3: 19,725,256 (GRCm39)	V258L	possibly damaging	Het
Ttn	A	G	2: 76,560,756 (GRCm39)	V29215A	probably damaging	Het
Ubr4	T	G	4: 139,157,534 (GRCm39)	S2364A	probably benign	Het
Unc79	T	A	12: 103,045,329 (GRCm39)		probably null	Het
Upb1	T	C	10: 75,250,917 (GRCm39)		probably null	Het
Usp47	T	C	7: 111,655,787 (GRCm39)	S155P	possibly damaging	Het
Zfp628	A	T	7: 4,922,732 (GRCm39)	Q318L	probably benign	Het
Zfp729b	A	T	13: 67,739,253 (GRCm39)	V1004E	probably benign	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
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
R2228:Ppp1r3c	UTSW	19	36,711,098 (GRCm39)	missense	probably benign
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'- TTCTGAAAGCGGTCCCGGAAAC -3'
(R):5'- TGTAGATCTCATCACCCCAGTGCTC -3'

Sequencing Primer
(F):5'- CTGGAGGAGATATCGTTAAGGTCC -3'
(R):5'- GCTCATTCACCACCTCTGAA -3'

Posted On

2013-05-23