Mutagenetix > Incidental Mutation

Incidental Mutation 'R2344:Gys2'

245922

Institutional Source

Beutler Lab

Gene Symbol

Gys2

Ensembl Gene

ENSMUSG00000030244

Gene Name

glycogen synthase 2

Synonyms

glycogen synthase, liver, LGS

Accession Numbers

Essential gene?

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

Stock #

R2344 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

142368339-142418835 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 142391748 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 505 (F505I)

Ref Sequence

ENSEMBL: ENSMUSP00000032371 (fasta)

Gene Model

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

AlphaFold

Q8VCB3

Predicted Effect

probably damaging
Transcript: ENSMUST00000032371
AA Change: F505I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000032371
Gene: ENSMUSG00000030244
AA Change: F505I

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.4%

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid4b	A	G	13: 14,328,075 (GRCm39)	Q247R	probably benign	Het
Bend7	A	T	2: 4,793,345 (GRCm39)	D383V	probably damaging	Het
Calm4	A	G	13: 3,888,298 (GRCm39)	K135E	possibly damaging	Het
Cdh23	T	C	10: 60,152,503 (GRCm39)	D2412G	probably damaging	Het
Col6a5	T	C	9: 105,805,736 (GRCm39)	T1057A	unknown	Het
Dpf3	T	G	12: 83,397,594 (GRCm39)	D90A	probably damaging	Het
Dtl	A	T	1: 191,280,490 (GRCm39)	M348K	probably benign	Het
Elmo3	T	C	8: 106,035,793 (GRCm39)	Y558H	probably damaging	Het
Epha3	C	T	16: 63,472,746 (GRCm39)	V79I	possibly damaging	Het
Ercc5	T	C	1: 44,206,329 (GRCm39)	M414T	probably benign	Het
Fam217a	T	C	13: 35,094,318 (GRCm39)	I389M	probably damaging	Het
Fsip2	T	C	2: 82,820,257 (GRCm39)	F5330S	possibly damaging	Het
Grin2a	T	C	16: 9,481,099 (GRCm39)	I533V	probably benign	Het
Gsdma2	T	C	11: 98,546,417 (GRCm39)	L167P	probably damaging	Het
Il6	A	T	5: 30,219,854 (GRCm39)	M77L	probably benign	Het
Or6c76b	A	T	10: 129,692,410 (GRCm39)	T8S	probably benign	Het
Pgm2l1	A	G	7: 99,909,115 (GRCm39)	I194V	probably damaging	Het
Rbpjl	G	T	2: 164,256,312 (GRCm39)	V433L	probably damaging	Het
Rps10	C	G	17: 27,853,081 (GRCm39)	R96P	possibly damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Supt16	T	C	14: 52,415,575 (GRCm39)	T387A	probably benign	Het
Usf3	C	T	16: 44,036,414 (GRCm39)	T298M	probably benign	Het
Usp49	T	C	17: 47,983,828 (GRCm39)	F278L	probably damaging	Het
Zfp729b	A	G	13: 67,740,352 (GRCm39)	C648R	probably 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
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'- TCTGCAAAGCATTGAATTGACCC -3'
(R):5'- TCCCTGAATGTACAACACAGG -3'

Sequencing Primer
(F):5'- GAATTGACCCAATGAAATGGATCC -3'
(R):5'- ACCCAGAATTCCTGTCCTC -3'

Posted On

2014-10-30