Incidental Mutation 'R6261:Gys2'
| ID |
506697 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gys2
|
| Ensembl Gene |
ENSMUSG00000030244 |
| Gene Name |
glycogen synthase 2 |
| Synonyms |
glycogen synthase, liver, LGS |
| MMRRC Submission |
044404-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.347)
|
| Stock # |
R6261 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
142368339-142418835 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 142405134 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 218
(I218V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032371
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032371]
|
| AlphaFold |
Q8VCB3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032371
AA Change: I218V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000032371
Gene: ENSMUSG00000030244
AA Change: I218V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycogen_syn
|
32 |
667 |
N/A |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.7%
|
| Validation Efficiency |
100% (65/65) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot8 |
T |
C |
2: 164,636,979 (GRCm39) |
D257G |
probably damaging |
Het |
| Adamtsl1 |
T |
C |
4: 86,255,115 (GRCm39) |
V736A |
probably benign |
Het |
| Anln |
A |
G |
9: 22,275,342 (GRCm39) |
L521S |
probably damaging |
Het |
| Arfgap2 |
T |
G |
2: 91,100,627 (GRCm39) |
S311A |
probably benign |
Het |
| Brdt |
A |
T |
5: 107,496,369 (GRCm39) |
E160D |
probably benign |
Het |
| Ccdc187 |
A |
G |
2: 26,166,215 (GRCm39) |
I738T |
probably damaging |
Het |
| Cd59a |
G |
C |
2: 103,934,550 (GRCm39) |
G6A |
probably damaging |
Het |
| Cd5l |
C |
T |
3: 87,275,915 (GRCm39) |
P295L |
probably benign |
Het |
| Cdhr17 |
T |
C |
5: 17,017,183 (GRCm39) |
|
noncoding transcript |
Het |
| Cnot1 |
A |
G |
8: 96,468,549 (GRCm39) |
S1432P |
probably benign |
Het |
| Cnot8 |
T |
A |
11: 58,004,877 (GRCm39) |
I192N |
probably damaging |
Het |
| Col4a1 |
G |
T |
8: 11,257,409 (GRCm39) |
|
probably null |
Het |
| Cuta |
A |
G |
17: 27,158,301 (GRCm39) |
L11P |
possibly damaging |
Het |
| Cyp2c39 |
G |
A |
19: 39,556,463 (GRCm39) |
R433H |
probably damaging |
Het |
| Cyp4a12b |
T |
A |
4: 115,271,740 (GRCm39) |
Y150* |
probably null |
Het |
| Dcaf15 |
G |
A |
8: 84,825,734 (GRCm39) |
A291V |
probably benign |
Het |
| Dcstamp |
A |
T |
15: 39,618,131 (GRCm39) |
H180L |
possibly damaging |
Het |
| Egfr |
A |
G |
11: 16,839,964 (GRCm39) |
I659M |
probably benign |
Het |
| Fzd8 |
A |
G |
18: 9,214,598 (GRCm39) |
E560G |
possibly damaging |
Het |
| Gm5111 |
A |
T |
6: 48,566,526 (GRCm39) |
|
probably benign |
Het |
| Gm7945 |
T |
C |
14: 41,104,780 (GRCm39) |
T214A |
unknown |
Het |
| Gpi1 |
T |
C |
7: 33,920,170 (GRCm39) |
T168A |
possibly damaging |
Het |
| Gzmf |
T |
A |
14: 56,443,949 (GRCm39) |
I74L |
probably benign |
Het |
| Hacl1 |
G |
A |
14: 31,357,728 (GRCm39) |
A70V |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,846,820 (GRCm39) |
L3590* |
probably null |
Het |
| Idh2 |
GGTCCCAG |
GG |
7: 79,748,077 (GRCm39) |
|
probably benign |
Het |
| Igfals |
G |
T |
17: 25,100,339 (GRCm39) |
V477F |
possibly damaging |
Het |
| Igkv8-28 |
A |
T |
6: 70,120,874 (GRCm39) |
V23E |
probably benign |
Het |
| Isg20l2 |
T |
A |
3: 87,839,395 (GRCm39) |
V202E |
probably damaging |
Het |
| Jakmip2 |
A |
G |
18: 43,708,599 (GRCm39) |
I288T |
probably benign |
Het |
| Kansl3 |
A |
G |
1: 36,404,686 (GRCm39) |
V88A |
probably benign |
Het |
| Kcna3 |
A |
G |
3: 106,945,266 (GRCm39) |
T510A |
possibly damaging |
Het |
| Map2k5 |
G |
T |
9: 63,245,380 (GRCm39) |
L140I |
probably benign |
Het |
| Map3k19 |
A |
G |
1: 127,750,336 (GRCm39) |
I1005T |
possibly damaging |
Het |
| Mmp25 |
G |
A |
17: 23,849,768 (GRCm39) |
A541V |
possibly damaging |
Het |
| Ms4a14 |
T |
A |
19: 11,281,384 (GRCm39) |
E391D |
probably benign |
Het |
| Mtrf1l |
A |
G |
10: 5,765,550 (GRCm39) |
|
probably null |
Het |
| Myom1 |
A |
G |
17: 71,433,132 (GRCm39) |
N1591S |
probably damaging |
Het |
| Nos1 |
G |
A |
5: 118,074,635 (GRCm39) |
V1060M |
probably benign |
Het |
| Nsun5 |
C |
T |
5: 135,400,385 (GRCm39) |
T142M |
probably damaging |
Het |
| Odc1 |
A |
G |
12: 17,600,655 (GRCm39) |
E430G |
probably benign |
Het |
| Or8g36 |
C |
A |
9: 39,422,105 (GRCm39) |
V304F |
probably benign |
Het |
| P2ry12 |
T |
C |
3: 59,125,328 (GRCm39) |
I116V |
probably null |
Het |
| Patl1 |
T |
A |
19: 11,897,695 (GRCm39) |
V94E |
probably damaging |
Het |
| Plin3 |
A |
T |
17: 56,588,488 (GRCm39) |
Y255* |
probably null |
Het |
| Pou6f1 |
T |
C |
15: 100,477,827 (GRCm39) |
T439A |
probably damaging |
Het |
| Prdm13 |
T |
C |
4: 21,678,366 (GRCm39) |
K708R |
probably damaging |
Het |
| Prr14l |
A |
G |
5: 32,986,748 (GRCm39) |
S916P |
possibly damaging |
Het |
| Rab34 |
T |
A |
11: 78,082,028 (GRCm39) |
|
probably null |
Het |
| Rps7 |
A |
G |
12: 28,685,593 (GRCm39) |
S21P |
possibly damaging |
Het |
| Scn9a |
A |
T |
2: 66,314,240 (GRCm39) |
L1815Q |
probably damaging |
Het |
| Sesn3 |
A |
G |
9: 14,232,459 (GRCm39) |
Y244C |
probably benign |
Het |
| Slc15a2 |
A |
G |
16: 36,581,973 (GRCm39) |
F284L |
probably benign |
Het |
| Slc25a44 |
C |
T |
3: 88,328,218 (GRCm39) |
G72D |
probably damaging |
Het |
| Slco6d1 |
A |
G |
1: 98,427,588 (GRCm39) |
T640A |
probably benign |
Het |
| Sspo |
A |
T |
6: 48,439,125 (GRCm39) |
E1591V |
possibly damaging |
Het |
| Tbata |
C |
A |
10: 61,011,644 (GRCm39) |
T60K |
possibly damaging |
Het |
| Tbc1d2 |
T |
A |
4: 46,637,692 (GRCm39) |
T185S |
possibly damaging |
Het |
| Tlcd4 |
T |
A |
3: 121,028,708 (GRCm39) |
I60F |
possibly damaging |
Het |
| Tmem87a |
A |
G |
2: 120,234,502 (GRCm39) |
S14P |
possibly damaging |
Het |
| Tnnt2 |
C |
A |
1: 135,778,292 (GRCm39) |
|
probably null |
Het |
| Trex1 |
A |
G |
9: 108,887,709 (GRCm39) |
V94A |
probably benign |
Het |
| Ubtfl1 |
A |
C |
9: 18,320,592 (GRCm39) |
D40A |
possibly damaging |
Het |
| Zc3hav1 |
A |
T |
6: 38,309,935 (GRCm39) |
Y296N |
probably benign |
Het |
| Zfp521 |
T |
A |
18: 13,977,684 (GRCm39) |
N910Y |
probably damaging |
Het |
| Zfp53 |
A |
G |
17: 21,728,975 (GRCm39) |
E336G |
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 |
|
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'- GAGCAGAATTCAGGTCTCTCAAC -3'
(R):5'- TTCTGATGCAGGTGACAGACC -3'
Sequencing Primer
(F):5'- TGCACTCTGAGCAAAATTAAGC -3'
(R):5'- GGTGACAGACCACGCAGAC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation