Incidental Mutation 'R7852:Gys2'
ID |
606988 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gys2
|
Ensembl Gene |
ENSMUSG00000030244 |
Gene Name |
glycogen synthase 2 |
Synonyms |
glycogen synthase, liver, LGS |
MMRRC Submission |
045905-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.347)
|
Stock # |
R7852 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
142368339-142418835 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 142376059 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 534
(F534L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032371
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032371]
|
AlphaFold |
Q8VCB3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032371
AA Change: F534L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000032371 Gene: ENSMUSG00000030244 AA Change: F534L
Domain | Start | End | E-Value | Type |
Pfam:Glycogen_syn
|
32 |
667 |
N/A |
PFAM |
|
Meta Mutation Damage Score |
0.8446 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933415A04Rik |
GTGT |
GTGTTTGT |
11: 43,478,253 (GRCm39) |
|
probably null |
Het |
Aco1 |
A |
G |
4: 40,180,263 (GRCm39) |
D388G |
probably benign |
Het |
Adgrl1 |
T |
G |
8: 84,662,187 (GRCm39) |
L1016R |
probably damaging |
Het |
Agmo |
C |
T |
12: 37,292,051 (GRCm39) |
P4L |
possibly damaging |
Het |
Agrn |
A |
T |
4: 156,253,514 (GRCm39) |
H1792Q |
probably benign |
Het |
Arhgef40 |
C |
T |
14: 52,229,254 (GRCm39) |
L615F |
unknown |
Het |
Atp6v1b1 |
A |
T |
6: 83,729,452 (GRCm39) |
M121L |
possibly damaging |
Het |
Cd38 |
C |
A |
5: 44,058,790 (GRCm39) |
L135M |
probably damaging |
Het |
Cep152 |
A |
T |
2: 125,432,033 (GRCm39) |
N622K |
possibly damaging |
Het |
Cfhr1 |
A |
C |
1: 139,484,165 (GRCm39) |
V117G |
probably damaging |
Het |
Dnajb1 |
T |
A |
8: 84,336,834 (GRCm39) |
D201E |
probably benign |
Het |
Dpysl2 |
T |
C |
14: 67,100,092 (GRCm39) |
N48S |
probably benign |
Het |
Dsc2 |
A |
G |
18: 20,179,342 (GRCm39) |
I242T |
possibly damaging |
Het |
Eif1ad10 |
A |
C |
12: 88,216,588 (GRCm39) |
Y95D |
probably damaging |
Het |
Eif1ad3 |
G |
A |
12: 87,843,742 (GRCm39) |
V130M |
unknown |
Het |
Fam193a |
C |
A |
5: 34,568,161 (GRCm39) |
D153E |
probably benign |
Het |
Flnc |
G |
T |
6: 29,440,897 (GRCm39) |
D332Y |
probably damaging |
Het |
Fstl5 |
A |
G |
3: 76,615,275 (GRCm39) |
I779V |
probably benign |
Het |
Gm29394 |
T |
C |
15: 57,912,172 (GRCm39) |
I11V |
unknown |
Het |
Gm36864 |
ATCAGAAGTTTC |
ATC |
7: 43,886,361 (GRCm39) |
|
probably benign |
Het |
Gnpnat1 |
G |
A |
14: 45,622,110 (GRCm39) |
P28S |
probably damaging |
Het |
Grk5 |
T |
C |
19: 61,069,383 (GRCm39) |
|
probably null |
Het |
Igdcc4 |
G |
A |
9: 65,027,540 (GRCm39) |
V201I |
probably benign |
Het |
Khdc4 |
T |
A |
3: 88,604,043 (GRCm39) |
S287T |
probably benign |
Het |
Kif12 |
G |
C |
4: 63,086,226 (GRCm39) |
P374A |
probably benign |
Het |
Krt16 |
A |
T |
11: 100,137,592 (GRCm39) |
I371N |
probably damaging |
Het |
Lrfn2 |
G |
A |
17: 49,376,972 (GRCm39) |
V18I |
possibly damaging |
Het |
Masp2 |
G |
A |
4: 148,687,189 (GRCm39) |
E24K |
probably benign |
Het |
Mdga2 |
T |
C |
12: 66,517,724 (GRCm39) |
N37D |
possibly damaging |
Het |
Med12l |
T |
A |
3: 59,155,332 (GRCm39) |
F1171I |
probably damaging |
Het |
Med22 |
A |
T |
2: 26,800,376 (GRCm39) |
Y18N |
probably damaging |
Het |
Mfsd4b1 |
T |
C |
10: 39,879,411 (GRCm39) |
N162S |
probably benign |
Het |
Micu2 |
A |
T |
14: 58,169,710 (GRCm39) |
N213K |
probably benign |
Het |
Mpc1 |
C |
T |
17: 8,515,740 (GRCm39) |
T86I |
probably damaging |
Het |
Mto1 |
G |
T |
9: 78,356,820 (GRCm39) |
V112L |
possibly damaging |
Het |
Napepld |
C |
T |
5: 21,888,171 (GRCm39) |
V93I |
probably benign |
Het |
Nkx2-2 |
A |
T |
2: 147,026,189 (GRCm39) |
M183K |
probably damaging |
Het |
Nlrp10 |
A |
G |
7: 108,524,281 (GRCm39) |
S400P |
probably damaging |
Het |
Nynrin |
T |
C |
14: 56,108,886 (GRCm39) |
L1331P |
probably damaging |
Het |
Ofcc1 |
T |
A |
13: 40,333,915 (GRCm39) |
D392V |
probably damaging |
Het |
Or10q12 |
A |
G |
19: 13,745,874 (GRCm39) |
H56R |
probably benign |
Het |
Or11a4 |
T |
C |
17: 37,536,163 (GRCm39) |
V49A |
probably benign |
Het |
Or2ag16 |
A |
T |
7: 106,351,845 (GRCm39) |
M250K |
probably damaging |
Het |
Or6c38 |
T |
A |
10: 128,929,385 (GRCm39) |
I153F |
probably benign |
Het |
Patl2 |
C |
T |
2: 122,009,590 (GRCm39) |
|
probably benign |
Het |
Pde8b |
T |
G |
13: 95,244,205 (GRCm39) |
D78A |
probably damaging |
Het |
Pgls |
T |
A |
8: 72,047,847 (GRCm39) |
|
probably null |
Het |
Pik3c2a |
A |
G |
7: 116,016,693 (GRCm39) |
S355P |
probably benign |
Het |
Pole |
G |
A |
5: 110,454,695 (GRCm39) |
R976Q |
probably damaging |
Het |
Ppip5k2 |
A |
G |
1: 97,668,896 (GRCm39) |
L511S |
probably damaging |
Het |
Prcp |
A |
T |
7: 92,577,900 (GRCm39) |
N390Y |
probably benign |
Het |
Rpgrip1 |
T |
A |
14: 52,383,337 (GRCm39) |
N752K |
probably benign |
Het |
Rsl1d1 |
A |
G |
16: 11,021,098 (GRCm39) |
S8P |
probably benign |
Het |
S100a1 |
C |
A |
3: 90,419,392 (GRCm39) |
A18S |
probably benign |
Het |
Slc25a13 |
A |
G |
6: 6,152,461 (GRCm39) |
F92S |
probably damaging |
Het |
Slc35f3 |
T |
C |
8: 127,121,219 (GRCm39) |
I360T |
probably damaging |
Het |
Slc35f6 |
T |
C |
5: 30,814,159 (GRCm39) |
Y202H |
possibly damaging |
Het |
Sox6 |
A |
T |
7: 115,400,839 (GRCm39) |
M1K |
probably null |
Het |
Stx8 |
G |
A |
11: 67,860,611 (GRCm39) |
D11N |
probably damaging |
Het |
Vmn2r130 |
A |
G |
17: 23,282,788 (GRCm39) |
N156S |
probably benign |
Het |
Vmn2r52 |
T |
C |
7: 9,892,895 (GRCm39) |
Y748C |
probably damaging |
Het |
Vmn2r78 |
T |
A |
7: 86,569,378 (GRCm39) |
Y90* |
probably null |
Het |
Zc3h4 |
A |
G |
7: 16,156,392 (GRCm39) |
S303G |
unknown |
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 |
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 |
|
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'- AAAGTTTGCTCAACATCTGCC -3'
(R):5'- CCAGAAAGTAGCCATCTGGG -3'
Sequencing Primer
(F):5'- TTGGGGGCAGAATATTCAATATTAGG -3'
(R):5'- TGTAGATGAAGCCCTACTGCCATG -3'
|
Posted On |
2019-12-20 |