Incidental Mutation 'IGL02997:Gys2'
| ID |
407162 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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)
|
| Stock # |
IGL02997
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
142368339-142418835 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 142395195 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 423
(D423E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032371
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032371]
|
| AlphaFold |
Q8VCB3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032371
AA Change: D423E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032371
Gene: ENSMUSG00000030244
AA Change: D423E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycogen_syn
|
32 |
667 |
N/A |
PFAM |
|
| Coding Region Coverage |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
G |
11: 109,966,359 (GRCm39) |
|
probably benign |
Het |
| Adamts15 |
T |
C |
9: 30,817,353 (GRCm39) |
|
probably benign |
Het |
| Arsa |
T |
C |
15: 89,358,241 (GRCm39) |
D356G |
probably damaging |
Het |
| Cmbl |
A |
G |
15: 31,585,490 (GRCm39) |
K113E |
probably benign |
Het |
| Cmklr1 |
T |
C |
5: 113,752,701 (GRCm39) |
D100G |
probably benign |
Het |
| Col23a1 |
T |
A |
11: 51,467,979 (GRCm39) |
C517S |
probably damaging |
Het |
| Frem1 |
T |
A |
4: 82,853,205 (GRCm39) |
L1699F |
probably damaging |
Het |
| Ganab |
A |
G |
19: 8,892,776 (GRCm39) |
D900G |
probably benign |
Het |
| Glrp1 |
T |
C |
1: 88,437,507 (GRCm39) |
|
probably benign |
Het |
| H2-T9 |
A |
G |
17: 36,438,728 (GRCm39) |
V221A |
possibly damaging |
Het |
| Hp |
C |
A |
8: 110,302,418 (GRCm39) |
V177F |
probably damaging |
Het |
| Isoc1 |
T |
C |
18: 58,804,516 (GRCm39) |
|
probably benign |
Het |
| Kif18b |
A |
G |
11: 102,799,910 (GRCm39) |
L513P |
probably damaging |
Het |
| Kifc2 |
T |
C |
15: 76,548,539 (GRCm39) |
V342A |
possibly damaging |
Het |
| Krt78 |
A |
T |
15: 101,855,598 (GRCm39) |
S738T |
probably benign |
Het |
| Lats1 |
A |
G |
10: 7,578,018 (GRCm39) |
N381D |
possibly damaging |
Het |
| Masp2 |
C |
A |
4: 148,687,632 (GRCm39) |
|
probably benign |
Het |
| Mybpc1 |
G |
T |
10: 88,362,235 (GRCm39) |
N982K |
probably damaging |
Het |
| Ncor2 |
A |
T |
5: 125,196,634 (GRCm39) |
|
probably benign |
Het |
| Nkg7 |
T |
C |
7: 43,087,291 (GRCm39) |
F133L |
probably damaging |
Het |
| Nlrp1a |
A |
T |
11: 71,014,491 (GRCm39) |
I253N |
probably damaging |
Het |
| Nlrp4e |
G |
T |
7: 23,000,799 (GRCm39) |
Q31H |
probably benign |
Het |
| Or4p22 |
A |
C |
2: 88,317,732 (GRCm39) |
I219L |
probably damaging |
Het |
| Orc6 |
T |
A |
8: 86,032,837 (GRCm39) |
|
probably benign |
Het |
| Pbrm1 |
C |
T |
14: 30,783,508 (GRCm39) |
L542F |
probably damaging |
Het |
| Pcdh10 |
T |
C |
3: 45,333,797 (GRCm39) |
I37T |
probably damaging |
Het |
| Pex5l |
C |
A |
3: 33,009,991 (GRCm39) |
|
probably benign |
Het |
| Prl2b1 |
A |
G |
13: 27,569,087 (GRCm39) |
|
probably benign |
Het |
| Rnf168 |
G |
A |
16: 32,104,239 (GRCm39) |
E146K |
probably damaging |
Het |
| Rsph6a |
T |
G |
7: 18,788,764 (GRCm39) |
L32R |
probably benign |
Het |
| Scaper |
C |
T |
9: 55,722,783 (GRCm39) |
R675H |
probably damaging |
Het |
| Sf3a2 |
G |
A |
10: 80,639,454 (GRCm39) |
R148H |
probably damaging |
Het |
| Shank2 |
A |
G |
7: 143,635,610 (GRCm39) |
N328S |
probably benign |
Het |
| Smurf1 |
T |
A |
5: 144,834,815 (GRCm39) |
R153* |
probably null |
Het |
| Sorcs2 |
C |
T |
5: 36,225,492 (GRCm39) |
V126M |
probably damaging |
Het |
| Tamalin |
T |
C |
15: 101,128,899 (GRCm39) |
S216P |
probably damaging |
Het |
| Trav7d-4 |
T |
C |
14: 53,007,713 (GRCm39) |
S69P |
probably damaging |
Het |
| Trh |
G |
T |
6: 92,220,115 (GRCm39) |
|
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,649,896 (GRCm39) |
V438A |
probably benign |
Het |
| Utp25 |
T |
C |
1: 192,802,892 (GRCm39) |
Q275R |
probably benign |
Het |
| Wdfy3 |
T |
C |
5: 102,042,778 (GRCm39) |
E1991G |
probably null |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation