Incidental Mutation 'R5338:Gys2'
| ID |
423625 |
| 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)
|
| Stock # |
R5338 (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 142400239 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 324
(L324S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032371
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032371]
|
| AlphaFold |
Q8VCB3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032371
AA Change: L324S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032371
Gene: ENSMUSG00000030244
AA Change: L324S
| 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: 95.8%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
T |
A |
9: 99,502,597 (GRCm39) |
N252K |
probably damaging |
Het |
| Abhd16a |
A |
G |
17: 35,313,278 (GRCm39) |
E132G |
probably damaging |
Het |
| Adgrv1 |
G |
A |
13: 81,677,165 (GRCm39) |
R1889W |
possibly damaging |
Het |
| Aftph |
A |
T |
11: 20,677,203 (GRCm39) |
D135E |
probably benign |
Het |
| Arf1 |
A |
C |
11: 59,104,041 (GRCm39) |
F63V |
probably damaging |
Het |
| Atg14 |
G |
A |
14: 47,805,656 (GRCm39) |
R70C |
probably damaging |
Het |
| B3gnt7 |
T |
A |
1: 86,233,366 (GRCm39) |
F87Y |
probably damaging |
Het |
| Bcat1 |
A |
G |
6: 144,953,353 (GRCm39) |
Y345H |
possibly damaging |
Het |
| Birc2 |
G |
T |
9: 7,857,360 (GRCm39) |
T371K |
probably benign |
Het |
| Ccdc175 |
A |
T |
12: 72,231,745 (GRCm39) |
S5T |
probably damaging |
Het |
| Ccdc186 |
A |
T |
19: 56,801,689 (GRCm39) |
S143T |
possibly damaging |
Het |
| Cct6b |
A |
T |
11: 82,653,015 (GRCm39) |
M28K |
possibly damaging |
Het |
| Cers4 |
C |
A |
8: 4,565,680 (GRCm39) |
A42D |
probably damaging |
Het |
| Crmp1 |
G |
T |
5: 37,437,018 (GRCm39) |
V236L |
probably benign |
Het |
| Ctdspl2 |
T |
A |
2: 121,811,793 (GRCm39) |
N212K |
probably benign |
Het |
| Dclk3 |
T |
C |
9: 111,298,127 (GRCm39) |
V557A |
possibly damaging |
Het |
| Dnmt1 |
A |
T |
9: 20,864,015 (GRCm39) |
H23Q |
probably benign |
Het |
| Dpp8 |
G |
T |
9: 64,971,206 (GRCm39) |
E609* |
probably null |
Het |
| Dtx3 |
C |
A |
10: 127,028,919 (GRCm39) |
M106I |
probably benign |
Het |
| Ero1b |
A |
C |
13: 12,589,732 (GRCm39) |
D45A |
probably damaging |
Het |
| Fcho2 |
T |
A |
13: 98,867,399 (GRCm39) |
D688V |
probably damaging |
Het |
| Fhod3 |
A |
T |
18: 25,161,138 (GRCm39) |
S557C |
probably damaging |
Het |
| Flnc |
T |
C |
6: 29,444,063 (GRCm39) |
S626P |
possibly damaging |
Het |
| Foxi3 |
G |
T |
6: 70,937,602 (GRCm39) |
G278V |
probably damaging |
Het |
| Gbp10 |
A |
G |
5: 105,372,166 (GRCm39) |
L198P |
probably damaging |
Het |
| Gcn1 |
A |
G |
5: 115,721,462 (GRCm39) |
T458A |
probably benign |
Het |
| Gigyf1 |
C |
T |
5: 137,521,422 (GRCm39) |
|
probably benign |
Het |
| Gtpbp2 |
A |
C |
17: 46,478,760 (GRCm39) |
T526P |
probably damaging |
Het |
| Hpn |
C |
A |
7: 30,802,781 (GRCm39) |
V119L |
probably benign |
Het |
| Ino80d |
C |
A |
1: 63,098,098 (GRCm39) |
V599L |
probably benign |
Het |
| Kcnh3 |
G |
T |
15: 99,140,275 (GRCm39) |
G1054* |
probably null |
Het |
| Maml1 |
A |
T |
11: 50,157,778 (GRCm39) |
D132E |
probably benign |
Het |
| Mastl |
A |
T |
2: 23,023,503 (GRCm39) |
S407T |
probably benign |
Het |
| Mettl1 |
T |
C |
10: 126,878,954 (GRCm39) |
W3R |
probably damaging |
Het |
| Mprip |
A |
G |
11: 59,651,399 (GRCm39) |
Y1701C |
probably damaging |
Het |
| Mylk3 |
T |
C |
8: 86,069,350 (GRCm39) |
N484D |
probably damaging |
Het |
| Nod2 |
G |
A |
8: 89,399,413 (GRCm39) |
|
probably null |
Het |
| Nrde2 |
A |
T |
12: 100,097,037 (GRCm39) |
F921Y |
probably damaging |
Het |
| Nup88 |
G |
T |
11: 70,835,734 (GRCm39) |
T575N |
probably damaging |
Het |
| Nxpe3 |
T |
C |
16: 55,686,706 (GRCm39) |
T101A |
possibly damaging |
Het |
| Or1o3 |
T |
A |
17: 37,574,532 (GRCm39) |
T8S |
probably benign |
Het |
| Or2r11 |
A |
G |
6: 42,437,908 (GRCm39) |
M15T |
probably benign |
Het |
| Or4c109 |
C |
T |
2: 88,817,809 (GRCm39) |
V246I |
possibly damaging |
Het |
| Or52e15 |
A |
G |
7: 104,645,514 (GRCm39) |
L199S |
possibly damaging |
Het |
| Or8g32 |
A |
T |
9: 39,305,371 (GRCm39) |
I92F |
probably damaging |
Het |
| Pcnx3 |
A |
T |
19: 5,722,624 (GRCm39) |
L1356Q |
probably damaging |
Het |
| Pkd1 |
A |
T |
17: 24,813,510 (GRCm39) |
M4017L |
probably benign |
Het |
| Polg2 |
A |
G |
11: 106,670,064 (GRCm39) |
C69R |
possibly damaging |
Het |
| Prr5l |
T |
G |
2: 101,547,452 (GRCm39) |
S358R |
probably benign |
Het |
| Ptprg |
A |
G |
14: 12,154,111 (GRCm38) |
T611A |
probably benign |
Het |
| Ryk |
G |
T |
9: 102,774,516 (GRCm39) |
E417* |
probably null |
Het |
| Sbp |
T |
C |
17: 24,161,396 (GRCm39) |
|
probably benign |
Het |
| Sema4a |
T |
C |
3: 88,358,804 (GRCm39) |
T155A |
probably benign |
Het |
| Shank3 |
A |
G |
15: 89,415,914 (GRCm39) |
|
probably null |
Het |
| Slc35d2 |
A |
T |
13: 64,245,496 (GRCm39) |
M294K |
possibly damaging |
Het |
| Slc41a3 |
A |
T |
6: 90,589,153 (GRCm39) |
N88I |
possibly damaging |
Het |
| Slit3 |
A |
G |
11: 35,512,975 (GRCm39) |
T534A |
probably benign |
Het |
| Ssx2ip |
A |
G |
3: 146,142,296 (GRCm39) |
|
probably null |
Het |
| Stard13 |
T |
C |
5: 150,983,063 (GRCm39) |
K648R |
probably damaging |
Het |
| Tanc1 |
A |
T |
2: 59,626,178 (GRCm39) |
T512S |
probably damaging |
Het |
| Tbcc |
T |
C |
17: 47,202,082 (GRCm39) |
V156A |
probably benign |
Het |
| Terf1 |
T |
G |
1: 15,901,787 (GRCm39) |
I273R |
possibly damaging |
Het |
| Tesc |
A |
G |
5: 118,197,523 (GRCm39) |
Y179C |
probably damaging |
Het |
| Ttc3 |
T |
G |
16: 94,184,900 (GRCm39) |
V40G |
probably damaging |
Het |
| Tysnd1 |
T |
A |
10: 61,532,028 (GRCm39) |
F227I |
probably damaging |
Het |
| Vps53 |
T |
C |
11: 75,972,034 (GRCm39) |
E271G |
probably damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,812,823 (GRCm39) |
R1650H |
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 |
|
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 |
|
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'- TGGAAGCCAGTTCTTCACG -3'
(R):5'- TCCTTTAATCAGAAATAAAAGCACCA -3'
Sequencing Primer
(F):5'- GTTCTTCACGCCTCACAGCAG -3'
(R):5'- GATGAACTCTTCTGACCTCCAAGGG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation