Mutagenetix > Incidental Mutation

Incidental Mutation 'R1859:Ppp1r3c'

204275

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1859 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36709131-36714004 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36711011 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 253 (N253S)

Ref Sequence

ENSEMBL: ENSMUSP00000084578 (fasta)

Gene Model

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

AlphaFold

Q7TMB3

Predicted Effect

probably damaging
Transcript: ENSMUST00000087321
AA Change: N253S

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

SMART Domains

Protein: ENSMUSP00000084578
Gene: ENSMUSG00000067279
AA Change: N253S

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

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.3%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	C	T	12: 110,637,268 (GRCm39)		probably benign	Het
Adcy10	A	G	1: 165,349,530 (GRCm39)	E467G	probably damaging	Het
Alkbh8	A	G	9: 3,385,499 (GRCm39)	D597G	probably benign	Het
Alpk1	T	A	3: 127,474,749 (GRCm39)	H418L	possibly damaging	Het
Ano5	G	T	7: 51,196,581 (GRCm39)	V138L	probably damaging	Het
Aspg	T	A	12: 112,087,606 (GRCm39)	I319K	possibly damaging	Het
Atp9b	T	C	18: 80,793,135 (GRCm39)	T970A	possibly damaging	Het
Brd10	A	C	19: 29,732,323 (GRCm39)	C230G	possibly damaging	Het
C4b	T	A	17: 34,954,527 (GRCm39)	M881L	probably benign	Het
Cd209c	A	T	8: 3,994,953 (GRCm39)	N70K	probably benign	Het
Cdca5	T	C	19: 6,140,124 (GRCm39)	V95A	possibly damaging	Het
Cds2	A	G	2: 132,144,115 (GRCm39)	Y297C	probably damaging	Het
Celsr2	C	T	3: 108,303,946 (GRCm39)	G2371S	probably damaging	Het
Cemip2	T	C	19: 21,825,341 (GRCm39)	V1213A	possibly damaging	Het
Chd5	T	A	4: 152,464,980 (GRCm39)	I1557N	probably benign	Het
Cntn5	C	T	9: 9,972,839 (GRCm39)	E266K	probably damaging	Het
Crtam	G	A	9: 40,884,900 (GRCm39)	T363M	possibly damaging	Het
Dnah2	A	G	11: 69,328,712 (GRCm39)	S3298P	probably damaging	Het
Dok1	A	T	6: 83,009,226 (GRCm39)	Y209N	probably damaging	Het
Dpp10	T	C	1: 123,281,333 (GRCm39)	D561G	possibly damaging	Het
Drosha	A	G	15: 12,878,804 (GRCm39)	K710R	probably benign	Het
Dse	T	C	10: 34,029,225 (GRCm39)	T622A	probably benign	Het
Duxf4	A	G	10: 58,071,602 (GRCm39)	V204A	probably benign	Het
Ercc6	T	C	14: 32,248,735 (GRCm39)	S429P	probably damaging	Het
Fam135a	A	T	1: 24,069,306 (GRCm39)	V521E	probably damaging	Het
Fbxl7	A	T	15: 26,543,279 (GRCm39)	L456Q	probably damaging	Het
Fbxo38	A	G	18: 62,648,489 (GRCm39)	I683T	probably damaging	Het
Foxc2	G	T	8: 121,843,364 (GRCm39)	R4L	probably damaging	Het
Glyctk	C	T	9: 106,034,731 (GRCm39)	V112I	probably benign	Het
Guf1	G	T	5: 69,725,803 (GRCm39)	G481*	probably null	Het
Heatr1	T	C	13: 12,418,040 (GRCm39)	L324S	probably damaging	Het
Hectd1	A	G	12: 51,853,350 (GRCm39)	L57P	probably damaging	Het
Hmcn1	A	T	1: 150,532,944 (GRCm39)	C3080S	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ifit1	T	A	19: 34,624,944 (GRCm39)	F27I	probably benign	Het
Ift20	G	T	11: 78,430,860 (GRCm39)	E68*	probably null	Het
Itsn1	A	G	16: 91,686,042 (GRCm39)		probably benign	Het
Ksr2	T	A	5: 117,553,006 (GRCm39)	L38Q	probably damaging	Het
Lama2	A	T	10: 26,907,078 (GRCm39)	M2361K	possibly damaging	Het
Lrrc56	A	G	7: 140,787,421 (GRCm39)	M353V	probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Map3k9	A	T	12: 81,771,256 (GRCm39)	S800R	possibly damaging	Het
Mef2a	A	G	7: 66,915,766 (GRCm39)	S179P	probably damaging	Het
Micall1	A	G	15: 79,007,145 (GRCm39)		probably benign	Het
Mpg	A	G	11: 32,181,957 (GRCm39)		probably null	Het
Mpp7	A	T	18: 7,350,967 (GRCm39)	*577K	probably null	Het
Msh4	G	T	3: 153,611,517 (GRCm39)	H35Q	probably benign	Het
Mst1	G	A	9: 107,961,545 (GRCm39)	V601I	probably benign	Het
Myh10	T	A	11: 68,636,239 (GRCm39)	N246K	probably benign	Het
Myom3	C	A	4: 135,506,707 (GRCm39)	N493K	probably benign	Het
Mypn	T	C	10: 62,981,969 (GRCm39)	D537G	probably benign	Het
Ncan	A	T	8: 70,567,998 (GRCm39)	M38K	possibly damaging	Het
Ndufaf6	G	T	4: 11,053,474 (GRCm39)	H277Q	probably benign	Het
Nos1	A	T	5: 118,043,527 (GRCm39)	N601Y	possibly damaging	Het
Nrxn2	G	A	19: 6,538,825 (GRCm39)	V794I	probably benign	Het
Or10q12	T	A	19: 13,746,088 (GRCm39)	Y127*	probably null	Het
Or13a17	T	A	7: 140,271,571 (GRCm39)	V251E	possibly damaging	Het
Or13c7b	A	T	4: 43,820,779 (GRCm39)	I194N	possibly damaging	Het
Or2y17	T	C	11: 49,232,211 (GRCm39)	L284P	probably damaging	Het
Or8h9	T	C	2: 86,789,425 (GRCm39)	I126V	probably damaging	Het
Parp4	T	C	14: 56,886,372 (GRCm39)	V1817A	unknown	Het
Pfdn1	C	A	18: 36,584,153 (GRCm39)	M60I	probably benign	Het
Prdm5	A	G	6: 65,808,263 (GRCm39)	I42V	probably benign	Het
Prom2	T	G	2: 127,383,017 (GRCm39)	Q75P	probably damaging	Het
Ptpn23	T	C	9: 110,217,938 (GRCm39)	D669G	possibly damaging	Het
Rag1	T	C	2: 101,474,407 (GRCm39)	D245G	probably benign	Het
Rpl22l1	T	A	3: 28,860,747 (GRCm39)		probably null	Het
Sars2	T	C	7: 28,443,737 (GRCm39)	V113A	probably damaging	Het
Sbno2	T	A	10: 79,894,473 (GRCm39)	K1067*	probably null	Het
Sec61g	A	G	11: 16,456,371 (GRCm39)		probably null	Het
Slc4a11	A	T	2: 130,529,932 (GRCm39)	M282K	probably benign	Het
Slc5a4a	T	C	10: 76,002,569 (GRCm39)	S242P	probably benign	Het
Sparc	A	T	11: 55,297,334 (GRCm39)		probably null	Het
Thra	T	A	11: 98,646,977 (GRCm39)	C33S	probably damaging	Het
Trrap	A	T	5: 144,767,761 (GRCm39)	T2293S	probably benign	Het
Ttn	T	A	2: 76,724,989 (GRCm39)		probably benign	Het
Vat1l	T	A	8: 114,998,041 (GRCm39)	V195E	probably damaging	Het
Vmn1r60	T	A	7: 5,547,549 (GRCm39)	I184F	possibly damaging	Het
Wdfy4	A	G	14: 32,825,940 (GRCm39)	I1192T	probably damaging	Het
Zbtb10	T	C	3: 9,345,446 (GRCm39)	S737P	possibly damaging	Het
Zfp553	A	G	7: 126,834,517 (GRCm39)	E24G	probably benign	Het
Zscan30	A	G	18: 24,104,524 (GRCm39)		noncoding transcript	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
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'- ACTCATCGATAGGAGGTCAAGTTC -3'
(R):5'- GTCCGGATCACCTTTGACAC -3'

Sequencing Primer
(F):5'- GGAGGTCAAGTTCTCCACTC -3'
(R):5'- GGATCACCTTTGACACCTGGAAAAC -3'

Posted On

2014-06-23