Mutagenetix > Incidental Mutation

Incidental Mutation 'R1235:Gys2'

152404

Institutional Source

Beutler Lab

Gene Symbol

Gys2

Ensembl Gene

ENSMUSG00000030244

Gene Name

glycogen synthase 2

Synonyms

glycogen synthase, liver, LGS

MMRRC Submission

039303-MU

Accession Numbers

Essential gene?

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

Stock #

R1235 (G1)

Quality Score

224

Status

Not validated

Chromosome

Chromosomal Location

142368339-142418835 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 142376019 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 548 (Y548N)

Ref Sequence

ENSEMBL: ENSMUSP00000032371 (fasta)

Gene Model

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

AlphaFold

Q8VCB3

Predicted Effect

probably damaging
Transcript: ENSMUST00000032371
AA Change: Y548N

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

SMART Domains

Protein: ENSMUSP00000032371
Gene: ENSMUSG00000030244
AA Change: Y548N

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

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.5%

Validation Efficiency

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arsg	T	C	11: 109,424,933 (GRCm39)		probably null	Het
Col6a1	C	A	10: 76,548,158 (GRCm39)	A633S	unknown	Het
Dnajb3	C	T	1: 88,133,201 (GRCm39)	R67H	probably benign	Het
Fam53c	T	A	18: 34,901,311 (GRCm39)	L76Q	probably damaging	Het
Kcnh3	T	A	15: 99,139,984 (GRCm39)		probably null	Het
Lrp2	C	T	2: 69,354,380 (GRCm39)	V483I	probably damaging	Het
Myom3	A	T	4: 135,516,854 (GRCm39)	Y808F	probably benign	Het
Nmur1	C	T	1: 86,314,415 (GRCm39)	G307S	probably damaging	Het
Or8w1	T	G	2: 87,465,159 (GRCm39)		probably null	Het
Pcdhb13	T	C	18: 37,578,012 (GRCm39)	*797Q	probably null	Het
Plcb4	G	A	2: 135,814,868 (GRCm39)	G719R	probably damaging	Het
Pld1	A	T	3: 28,082,883 (GRCm39)	T143S	probably benign	Het
Rem1	G	A	2: 152,476,455 (GRCm39)	V238M	probably damaging	Het
Sema5a	A	T	15: 32,609,372 (GRCm39)	Y426F	probably benign	Het
Trpc7	G	T	13: 57,035,352 (GRCm39)	H194N	probably damaging	Het
Vmn2r106	A	T	17: 20,499,741 (GRCm39)	F165I	probably benign	Het
Zdbf2	A	G	1: 63,348,232 (GRCm39)	T2204A	possibly damaging	Het
Zp2	A	T	7: 119,737,566 (GRCm39)	F240I	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
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
R8880:Gys2	UTSW	6	142,402,113 (GRCm39)	missense	probably damaging	1.00
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'- AGGTAAAGTTTGCTCAACATCTGCCC -3'
(R):5'- AGCAGAGAGCAGCAGGTCCC -3'

Sequencing Primer
(F):5'- AACATCTGCCCTTGTGTAATTC -3'
(R):5'- agaagctcttggactggatg -3'

Posted On

2014-01-29