Mutagenetix > Incidental Mutation

Incidental Mutation 'R8880:Gys2'

676838

Institutional Source

Beutler Lab

Gene Symbol

Gys2

Ensembl Gene

ENSMUSG00000030244

Gene Name

glycogen synthase 2

Synonyms

glycogen synthase, liver, LGS

MMRRC Submission

068748-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.347) question?

Stock #

R8880 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

142368339-142418835 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 142402113 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 242 (Y242C)

Ref Sequence

ENSEMBL: ENSMUSP00000032371 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032371]

AlphaFold

Q8VCB3

Predicted Effect

probably damaging
Transcript: ENSMUST00000032371
AA Change: Y242C

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

SMART Domains

Protein: ENSMUSP00000032371
Gene: ENSMUSG00000030244
AA Change: Y242C

Domain	Start	End	E-Value	Type
Pfam:Glycogen_syn	32	667	N/A	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (82/82)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene, liver glycogen synthase, catalyzes the rate-limiting step in the synthesis of glycogen - the transfer of a glucose molecule from UDP-glucose to a terminal branch of the glycogen molecule. Mutations in this gene cause glycogen storage disease type 0 (GSD-0) - a rare type of early childhood fasting hypoglycemia with decreased liver glycogen content. [provided by RefSeq, Dec 2009]
PHENOTYPE: Mice homozygous for a conditional allele knocked out in the liver results in abnormal glycogen homeostasis, altered glucose homeostasis, decreased exercise endurance, and a phenotype similar to patients with glycogen storage disease 0. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	C	T	14: 32,382,837 (GRCm39)	V1043I	probably benign	Het
5031439G07Rik	T	A	15: 84,839,867 (GRCm39)	I176F	possibly damaging	Het
Adam6b	T	A	12: 113,454,764 (GRCm39)	M527K	probably benign	Het
Atp10b	C	T	11: 43,106,811 (GRCm39)	T615I	probably benign	Het
Atxn2	A	G	5: 121,948,973 (GRCm39)	T1117A	probably benign	Het
AU021092	A	T	16: 5,032,585 (GRCm39)		probably benign	Het
Bcam	C	T	7: 19,492,671 (GRCm39)	V505M	probably damaging	Het
Bco2	A	T	9: 50,461,962 (GRCm39)	L14Q	probably damaging	Het
Caps2	T	G	10: 112,030,824 (GRCm39)		probably benign	Het
Cblb	T	C	16: 51,986,368 (GRCm39)	V537A	probably benign	Het
Ccdc141	A	T	2: 76,845,556 (GRCm39)	N1170K	probably benign	Het
Ccdc154	T	G	17: 25,389,129 (GRCm39)	D442E	probably benign	Het
Col24a1	A	G	3: 145,019,798 (GRCm39)	I60V	probably null	Het
Crb1	A	T	1: 139,164,886 (GRCm39)	N1140K	probably benign	Het
Ddhd1	G	A	14: 45,846,430 (GRCm39)	P621S	probably benign	Het
Ddx46	A	T	13: 55,814,033 (GRCm39)	N663I	probably benign	Het
Dgki	C	T	6: 37,011,652 (GRCm39)		probably benign	Het
Disp2	T	C	2: 118,621,239 (GRCm39)	F657S	probably damaging	Het
Dnajc2	T	C	5: 21,973,670 (GRCm39)	E262G	probably damaging	Het
Dvl2	T	A	11: 69,898,761 (GRCm39)	L408Q	possibly damaging	Het
Egflam	T	C	15: 7,267,249 (GRCm39)	D712G	probably damaging	Het
Entpd7	A	G	19: 43,692,846 (GRCm39)		probably benign	Het
Epb41	A	T	4: 131,695,104 (GRCm39)	W28R		Het
Fabp9	C	T	3: 10,262,231 (GRCm39)		probably benign	Het
Fkbp15	T	A	4: 62,232,602 (GRCm39)	M657L	probably benign	Het
Gfy	A	C	7: 44,827,784 (GRCm39)	L104R	possibly damaging	Het
Gm4884	A	T	7: 40,693,911 (GRCm39)	I627F	probably damaging	Het
Gm9195	A	T	14: 72,691,320 (GRCm39)	S1643T	unknown	Het
Gpsm2	C	T	3: 108,610,335 (GRCm39)	A42T	possibly damaging	Het
Gvin2	T	C	7: 105,551,120 (GRCm39)	K644R	probably benign	Het
Hbs1l	A	G	10: 21,185,868 (GRCm39)	N430S	probably damaging	Het
Idh3b	A	T	2: 130,126,004 (GRCm39)		probably benign	Het
Igdcc3	C	T	9: 65,088,550 (GRCm39)	A384V	probably benign	Het
Ighv3-4	C	T	12: 114,217,535 (GRCm39)	D19N	possibly damaging	Het
Igkv19-93	G	T	6: 68,713,494 (GRCm39)	A45E	probably damaging	Het
Il10ra	G	A	9: 45,175,631 (GRCm39)	T230M	probably damaging	Het
Kalrn	A	G	16: 34,038,305 (GRCm39)	V1009A	probably damaging	Het
Kcnma1	G	T	14: 23,417,718 (GRCm39)	A837D	probably damaging	Het
Kif7	T	A	7: 79,348,650 (GRCm39)	R1231S	probably benign	Het
Klhdc1	A	G	12: 69,298,817 (GRCm39)	D134G	possibly damaging	Het
Klk14	T	C	7: 43,343,459 (GRCm39)	V97A	probably damaging	Het
Lamb3	G	A	1: 193,003,363 (GRCm39)	V101M	possibly damaging	Het
Lrrc7	C	T	3: 157,867,381 (GRCm39)	E787K	probably damaging	Het
Mep1a	A	G	17: 43,808,808 (GRCm39)	I94T	possibly damaging	Het
Mtrex	T	A	13: 113,051,034 (GRCm39)	K180N	probably benign	Het
Ncr1	C	T	7: 4,341,336 (GRCm39)	S109L	probably benign	Het
Nell2	A	T	15: 95,129,329 (GRCm39)	M678K	probably damaging	Het
Or12j5	C	A	7: 140,084,172 (GRCm39)	A67S	probably benign	Het
Or14c42-ps1	G	A	7: 86,211,549 (GRCm39)	C203Y	unknown	Het
Or2m13	A	T	16: 19,226,396 (GRCm39)	Y123*	probably null	Het
Or8g19	T	A	9: 39,055,899 (GRCm39)	F168I	probably damaging	Het
Pnpla1	A	C	17: 29,098,438 (GRCm39)	Y248S	probably damaging	Het
Pramel27	T	C	4: 143,573,140 (GRCm39)		probably null	Het
Prdm10	T	C	9: 31,264,742 (GRCm39)	F726L	probably damaging	Het
Prdm16	T	C	4: 154,613,370 (GRCm39)	N19S	probably damaging	Het
Prss44	A	G	9: 110,643,263 (GRCm39)	R53G	probably benign	Het
Rasgrp1	C	T	2: 117,115,425 (GRCm39)	R721Q	probably benign	Het
Rassf1	A	T	9: 107,434,740 (GRCm39)	N149I	probably damaging	Het
Rbp3	A	C	14: 33,678,796 (GRCm39)	T915P	probably benign	Het
Reg3g	A	T	6: 78,444,788 (GRCm39)	D63E	probably benign	Het
Relch	T	C	1: 105,592,220 (GRCm39)	Y130H	probably damaging	Het
Rgs3	C	A	4: 62,543,373 (GRCm39)	T236K	probably damaging	Het
Rin2	T	C	2: 145,690,772 (GRCm39)	F147L	probably damaging	Het
Slc17a1	T	C	13: 24,062,732 (GRCm39)	I266T	probably benign	Het
Slc34a3	A	T	2: 25,119,267 (GRCm39)	N534K	probably benign	Het
Smc2	A	T	4: 52,462,856 (GRCm39)	E615D	probably benign	Het
Snx16	A	C	3: 10,484,193 (GRCm39)	D343E	probably benign	Het
St18	T	A	1: 6,865,619 (GRCm39)	Y32*	probably null	Het
Svep1	C	T	4: 58,064,204 (GRCm39)	V3260I	possibly damaging	Het
Synm	C	T	7: 67,386,456 (GRCm39)	R402H	possibly damaging	Het
Tacc2	A	T	7: 130,318,564 (GRCm39)	E67V	possibly damaging	Het
Tarbp1	G	T	8: 127,198,044 (GRCm39)	N302K	probably damaging	Het
Tenm2	A	G	11: 35,942,788 (GRCm39)	S1294P	probably damaging	Het
Ttk	T	C	9: 83,751,304 (GRCm39)	S794P	probably damaging	Het
Ulk1	G	A	5: 110,934,288 (GRCm39)	A999V	probably damaging	Het
Upf2	A	G	2: 6,030,983 (GRCm39)	I808V	unknown	Het
Ush2a	A	G	1: 188,460,733 (GRCm39)	T2665A	probably benign	Het
Usp8	A	G	2: 126,590,229 (GRCm39)	K672E	probably damaging	Het
Vmn2r105	T	A	17: 20,429,229 (GRCm39)	I616F	probably damaging	Het
Vps33a	T	C	5: 123,707,506 (GRCm39)	M154V	probably damaging	Het
Wdfy4	A	C	14: 32,795,492 (GRCm39)	Y2083*	probably null	Het
Zc3hav1	A	G	6: 38,288,212 (GRCm39)	F875L	probably benign	Het
Zfp979	T	C	4: 147,697,836 (GRCm39)	N291S	probably benign	Het
Zp2	T	A	7: 119,742,835 (GRCm39)	Y99F	possibly damaging	Het

Other mutations in Gys2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00466:Gys2	APN	6	142,409,016 (GRCm39)	nonsense	probably null
IGL02963:Gys2	APN	6	142,395,154 (GRCm39)	critical splice donor site	probably null
IGL02997:Gys2	APN	6	142,395,195 (GRCm39)	missense	probably damaging	1.00
candy_corn	UTSW	6	142,402,059 (GRCm39)	missense	probably benign	0.00
embittered	UTSW	6	142,400,210 (GRCm39)	missense	possibly damaging	0.92
hazelnut	UTSW	6	142,395,181 (GRCm39)	missense	possibly damaging	0.67
R0243:Gys2	UTSW	6	142,418,394 (GRCm39)	splice site	probably benign
R1124:Gys2	UTSW	6	142,391,739 (GRCm39)	missense	probably damaging	0.97
R1188:Gys2	UTSW	6	142,400,909 (GRCm39)	missense	probably damaging	1.00
R1208:Gys2	UTSW	6	142,396,193 (GRCm39)	critical splice donor site	probably null
R1208:Gys2	UTSW	6	142,396,193 (GRCm39)	critical splice donor site	probably null
R1235:Gys2	UTSW	6	142,376,019 (GRCm39)	missense	probably damaging	1.00
R1387:Gys2	UTSW	6	142,407,009 (GRCm39)	missense	probably benign	0.06
R1758:Gys2	UTSW	6	142,418,432 (GRCm39)	missense	probably damaging	1.00
R1819:Gys2	UTSW	6	142,406,912 (GRCm39)	missense	probably damaging	1.00
R2221:Gys2	UTSW	6	142,402,148 (GRCm39)	missense	probably damaging	1.00
R2311:Gys2	UTSW	6	142,408,970 (GRCm39)	missense	possibly damaging	0.81
R2344:Gys2	UTSW	6	142,391,748 (GRCm39)	missense	probably damaging	0.99
R3151:Gys2	UTSW	6	142,402,059 (GRCm39)	missense	probably benign	0.00
R3902:Gys2	UTSW	6	142,418,526 (GRCm39)	start codon destroyed	probably null	0.98
R4532:Gys2	UTSW	6	142,400,867 (GRCm39)	missense	probably damaging	0.98
R4577:Gys2	UTSW	6	142,400,236 (GRCm39)	missense	possibly damaging	0.93
R4588:Gys2	UTSW	6	142,395,181 (GRCm39)	missense	possibly damaging	0.67
R4606:Gys2	UTSW	6	142,400,210 (GRCm39)	missense	possibly damaging	0.92
R5338:Gys2	UTSW	6	142,400,239 (GRCm39)	missense	probably damaging	1.00
R5411:Gys2	UTSW	6	142,394,147 (GRCm39)	missense	probably damaging	0.99
R6072:Gys2	UTSW	6	142,374,263 (GRCm39)	missense	probably damaging	0.98
R6261:Gys2	UTSW	6	142,405,134 (GRCm39)	missense	probably benign
R6366:Gys2	UTSW	6	142,409,120 (GRCm39)	missense	probably benign	0.02
R6597:Gys2	UTSW	6	142,402,035 (GRCm39)	missense	probably benign	0.25
R6930:Gys2	UTSW	6	142,405,106 (GRCm39)	critical splice donor site	probably null
R7033:Gys2	UTSW	6	142,418,448 (GRCm39)	missense	probably benign	0.08
R7663:Gys2	UTSW	6	142,405,211 (GRCm39)	missense	probably damaging	1.00
R7757:Gys2	UTSW	6	142,400,177 (GRCm39)	missense	probably benign	0.10
R7848:Gys2	UTSW	6	142,391,741 (GRCm39)	nonsense	probably null
R7852:Gys2	UTSW	6	142,376,059 (GRCm39)	missense	probably damaging	1.00
R8008:Gys2	UTSW	6	142,400,243 (GRCm39)	missense	probably damaging	1.00
R8037:Gys2	UTSW	6	142,394,119 (GRCm39)	missense	probably benign	0.44
R8070:Gys2	UTSW	6	142,394,230 (GRCm39)	critical splice acceptor site	probably null
R8152:Gys2	UTSW	6	142,373,136 (GRCm39)	missense	probably benign
R8178:Gys2	UTSW	6	142,402,138 (GRCm39)	missense	probably damaging	1.00
R8439:Gys2	UTSW	6	142,406,921 (GRCm39)	missense	probably benign	0.09
R8674:Gys2	UTSW	6	142,376,048 (GRCm39)	missense	probably benign	0.02
R8956:Gys2	UTSW	6	142,374,267 (GRCm39)	missense	probably damaging	1.00
R9043:Gys2	UTSW	6	142,376,059 (GRCm39)	missense	probably damaging	1.00
R9182:Gys2	UTSW	6	142,406,978 (GRCm39)	missense	possibly damaging	0.86
R9182:Gys2	UTSW	6	142,391,735 (GRCm39)	missense	probably damaging	0.99
R9185:Gys2	UTSW	6	142,405,112 (GRCm39)	missense	probably damaging	0.97
R9286:Gys2	UTSW	6	142,376,037 (GRCm39)	missense	possibly damaging	0.87
R9556:Gys2	UTSW	6	142,374,377 (GRCm39)	missense	probably damaging	1.00
R9744:Gys2	UTSW	6	142,394,187 (GRCm39)	missense	probably benign	0.00
R9747:Gys2	UTSW	6	142,395,181 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- TCTCTGACAACTAGGAAACCG -3'
(R):5'- GACTTGAAGTGAACAGTGCTG -3'

Sequencing Primer
(F):5'- CCGCAGGTGAGAGCACAG -3'
(R):5'- ACCAATTTTATACTCTAGCCAGTGG -3'

Posted On

2021-07-15