Incidental Mutation 'R1124:Gys2'
ID |
95958 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gys2
|
Ensembl Gene |
ENSMUSG00000030244 |
Gene Name |
glycogen synthase 2 |
Synonyms |
glycogen synthase, liver, LGS |
MMRRC Submission |
039197-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.347)
|
Stock # |
R1124 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
142368339-142418835 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 142391739 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 508
(Y508H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032371
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032371]
|
AlphaFold |
Q8VCB3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032371
AA Change: Y508H
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000032371 Gene: ENSMUSG00000030244 AA Change: Y508H
Domain | Start | End | E-Value | Type |
Pfam:Glycogen_syn
|
32 |
667 |
N/A |
PFAM |
|
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.7%
- 20x: 86.6%
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
C |
T |
14: 32,384,039 (GRCm39) |
R642Q |
possibly damaging |
Het |
Aadacl2fm3 |
A |
G |
3: 59,772,639 (GRCm39) |
T48A |
probably benign |
Het |
Aadacl4fm1 |
A |
G |
4: 144,255,194 (GRCm39) |
T205A |
probably benign |
Het |
Aadacl4fm4 |
T |
C |
4: 144,396,845 (GRCm39) |
S296G |
probably benign |
Het |
Anxa10 |
C |
T |
8: 62,514,038 (GRCm39) |
|
probably null |
Het |
Bcl11a |
A |
T |
11: 24,113,928 (GRCm39) |
M424L |
probably damaging |
Het |
Bhlhe41 |
A |
G |
6: 145,809,456 (GRCm39) |
S119P |
probably damaging |
Het |
C2cd3 |
A |
G |
7: 100,071,888 (GRCm39) |
D1033G |
probably benign |
Het |
Ccdc174 |
T |
C |
6: 91,876,561 (GRCm39) |
V466A |
probably benign |
Het |
Dnaaf11 |
T |
A |
15: 66,310,264 (GRCm39) |
T335S |
possibly damaging |
Het |
Drd2 |
T |
C |
9: 49,306,940 (GRCm39) |
Y9H |
probably damaging |
Het |
Fbxw14 |
T |
A |
9: 109,105,236 (GRCm39) |
I310F |
possibly damaging |
Het |
Grm3 |
C |
T |
5: 9,620,297 (GRCm39) |
V316I |
probably benign |
Het |
Lrp1b |
T |
A |
2: 40,765,063 (GRCm39) |
D2921V |
probably damaging |
Het |
Macrod2 |
A |
G |
2: 140,294,547 (GRCm39) |
K71R |
probably damaging |
Het |
Myh7 |
A |
T |
14: 55,211,327 (GRCm39) |
V1614E |
possibly damaging |
Het |
Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
Or8k23 |
T |
A |
2: 86,186,239 (GRCm39) |
K162N |
probably damaging |
Het |
Pirb |
T |
A |
7: 3,722,731 (GRCm39) |
N87I |
probably benign |
Het |
Pmfbp1 |
A |
G |
8: 110,257,115 (GRCm39) |
|
probably null |
Het |
Rasa4 |
A |
G |
5: 136,134,510 (GRCm39) |
N627S |
probably benign |
Het |
Spata31d1b |
A |
C |
13: 59,864,468 (GRCm39) |
M539L |
probably benign |
Het |
Tbc1d23 |
A |
T |
16: 57,034,525 (GRCm39) |
|
probably null |
Het |
Tnfrsf1b |
A |
T |
4: 144,950,926 (GRCm39) |
L229Q |
probably benign |
Het |
Trip12 |
A |
T |
1: 84,714,758 (GRCm39) |
V443E |
probably damaging |
Het |
Ush2a |
G |
T |
1: 188,485,733 (GRCm39) |
V2948L |
probably damaging |
Het |
Vmn1r204 |
A |
T |
13: 22,741,209 (GRCm39) |
Y280F |
possibly damaging |
Het |
Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
Vmn2r93 |
G |
T |
17: 18,518,710 (GRCm39) |
K56N |
probably benign |
Het |
Xrn1 |
A |
G |
9: 95,885,918 (GRCm39) |
I880V |
probably benign |
Het |
Zfp106 |
C |
T |
2: 120,365,195 (GRCm39) |
G404E |
probably benign |
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 |
|
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 |
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'- CCAGACGCACGCTCTCTTAATACTG -3'
(R):5'- CCTGAATGTACAACACAGGACTCCG -3'
Sequencing Primer
(F):5'- TCTGCAAAGCATTGAATTGACCC -3'
(R):5'- ACACCCAGAATTCCTGTCCT -3'
|
Posted On |
2014-01-05 |