Incidental Mutation 'R8070:Gys2'
| ID |
620231 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gys2
|
| Ensembl Gene |
ENSMUSG00000030244 |
| Gene Name |
glycogen synthase 2 |
| Synonyms |
glycogen synthase, liver, LGS |
| MMRRC Submission |
067505-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.299)
|
| Stock # |
R8070 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
142368339-142418835 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 142394230 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032371
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032371]
[ENSMUST00000032371]
|
| AlphaFold |
Q8VCB3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000032371
|
| SMART Domains |
Protein: ENSMUSP00000032371
Gene: ENSMUSG00000030244
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycogen_syn
|
32 |
667 |
N/A |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000032371
|
| SMART Domains |
Protein: ENSMUSP00000032371
Gene: ENSMUSG00000030244
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycogen_syn
|
32 |
667 |
N/A |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
A |
G |
5: 64,055,510 (GRCm39) |
E82G |
probably benign |
Het |
| 9830107B12Rik |
A |
G |
17: 48,452,681 (GRCm39) |
F86S |
probably damaging |
Het |
| Aamdc |
A |
T |
7: 97,224,855 (GRCm39) |
Y2* |
probably null |
Het |
| Acta1 |
T |
A |
8: 124,620,360 (GRCm39) |
D26V |
possibly damaging |
Het |
| Adra1d |
A |
C |
2: 131,403,502 (GRCm39) |
L196R |
probably damaging |
Het |
| Agbl2 |
G |
A |
2: 90,621,909 (GRCm39) |
C132Y |
probably benign |
Het |
| Amd1 |
A |
G |
10: 40,170,226 (GRCm39) |
V92A |
probably benign |
Het |
| Arid4b |
T |
A |
13: 14,310,844 (GRCm39) |
I149K |
probably benign |
Het |
| Atg7 |
A |
G |
6: 114,674,041 (GRCm39) |
M312V |
probably benign |
Het |
| Bap1 |
T |
A |
14: 30,978,643 (GRCm39) |
V381E |
probably damaging |
Het |
| Cbfa2t3 |
C |
T |
8: 123,369,720 (GRCm39) |
V207I |
possibly damaging |
Het |
| Cdh24 |
T |
C |
14: 54,870,030 (GRCm39) |
Q629R |
probably benign |
Het |
| Cdhr2 |
G |
T |
13: 54,867,606 (GRCm39) |
V479L |
probably benign |
Het |
| Chd2 |
A |
G |
7: 73,101,506 (GRCm39) |
S1407P |
probably benign |
Het |
| Clstn2 |
A |
G |
9: 97,681,523 (GRCm39) |
V39A |
possibly damaging |
Het |
| Cwh43 |
T |
A |
5: 73,578,806 (GRCm39) |
M357K |
possibly damaging |
Het |
| Dcdc2a |
T |
A |
13: 25,386,180 (GRCm39) |
D351E |
probably benign |
Het |
| Dennd6b |
T |
C |
15: 89,069,576 (GRCm39) |
I517V |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,915,497 (GRCm39) |
E4374G |
probably damaging |
Het |
| Emsy |
A |
G |
7: 98,275,922 (GRCm39) |
S336P |
possibly damaging |
Het |
| Enoph1 |
A |
T |
5: 100,208,841 (GRCm39) |
E65D |
probably benign |
Het |
| Fam83f |
T |
A |
15: 80,556,281 (GRCm39) |
L55Q |
probably damaging |
Het |
| Fry |
T |
C |
5: 150,401,472 (GRCm39) |
F379L |
|
Het |
| Fscb |
A |
T |
12: 64,521,382 (GRCm39) |
M28K |
probably benign |
Het |
| Gas7 |
G |
A |
11: 67,574,260 (GRCm39) |
V412M |
probably damaging |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Gcn1 |
T |
A |
5: 115,727,057 (GRCm39) |
V638E |
probably benign |
Het |
| Ggt1 |
A |
T |
10: 75,414,733 (GRCm39) |
I184F |
probably damaging |
Het |
| Gigyf2 |
A |
G |
1: 87,368,629 (GRCm39) |
N1103S |
probably benign |
Het |
| Gm5592 |
G |
A |
7: 40,935,887 (GRCm39) |
A130T |
possibly damaging |
Het |
| Hmcn1 |
C |
A |
1: 150,525,743 (GRCm39) |
E3327* |
probably null |
Het |
| Ighv1-36 |
C |
T |
12: 114,843,656 (GRCm39) |
G68E |
probably damaging |
Het |
| Igkv6-32 |
G |
A |
6: 70,051,089 (GRCm39) |
T89M |
probably damaging |
Het |
| Ipo7 |
A |
G |
7: 109,652,014 (GRCm39) |
D931G |
probably benign |
Het |
| Jakmip1 |
A |
G |
5: 37,330,631 (GRCm39) |
E437G |
probably benign |
Het |
| Lingo3 |
C |
T |
10: 80,671,955 (GRCm39) |
|
probably benign |
Het |
| Lnpep |
A |
G |
17: 17,758,900 (GRCm39) |
S815P |
probably damaging |
Het |
| Ly6a |
T |
C |
15: 74,869,449 (GRCm39) |
D2G |
probably damaging |
Het |
| Madd |
C |
A |
2: 90,988,359 (GRCm39) |
E1223* |
probably null |
Het |
| Mapk8ip3 |
A |
T |
17: 25,120,078 (GRCm39) |
|
probably null |
Het |
| Mecom |
T |
C |
3: 30,033,987 (GRCm39) |
E239G |
probably damaging |
Het |
| Mug1 |
T |
C |
6: 121,852,838 (GRCm39) |
V889A |
probably benign |
Het |
| Myo18b |
T |
A |
5: 112,938,986 (GRCm39) |
N1675I |
probably benign |
Het |
| Ndrg4 |
T |
C |
8: 96,426,756 (GRCm39) |
F50L |
possibly damaging |
Het |
| Ndst4 |
A |
G |
3: 125,508,293 (GRCm39) |
Y286C |
probably damaging |
Het |
| Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
| Olfm3 |
A |
G |
3: 114,895,604 (GRCm39) |
D195G |
probably damaging |
Het |
| Or2y14 |
A |
T |
11: 49,404,941 (GRCm39) |
T159S |
probably damaging |
Het |
| Or4p21 |
G |
T |
2: 88,277,003 (GRCm39) |
T93K |
probably benign |
Het |
| Pds5a |
A |
G |
5: 65,809,741 (GRCm39) |
L407P |
possibly damaging |
Het |
| Pgm2 |
A |
G |
5: 64,269,425 (GRCm39) |
N504S |
probably benign |
Het |
| Plce1 |
A |
G |
19: 38,690,283 (GRCm39) |
M656V |
probably damaging |
Het |
| Pou6f2 |
T |
C |
13: 18,414,209 (GRCm39) |
T189A |
unknown |
Het |
| Ppp1r12b |
T |
C |
1: 134,803,807 (GRCm39) |
S451G |
probably benign |
Het |
| Prox1 |
T |
G |
1: 189,893,107 (GRCm39) |
N446T |
probably damaging |
Het |
| Ralgapa2 |
T |
A |
2: 146,195,199 (GRCm39) |
R1195S |
probably damaging |
Het |
| Rere |
A |
G |
4: 150,701,832 (GRCm39) |
D37G |
probably damaging |
Het |
| Tfip11 |
T |
A |
5: 112,482,796 (GRCm39) |
M560K |
possibly damaging |
Het |
| Thop1 |
T |
C |
10: 80,915,320 (GRCm39) |
V260A |
probably damaging |
Het |
| Tle6 |
A |
G |
10: 81,434,476 (GRCm39) |
M41T |
possibly damaging |
Het |
| Trav13d-4 |
T |
C |
14: 53,995,249 (GRCm39) |
S68P |
possibly damaging |
Het |
| Trim24 |
A |
G |
6: 37,934,661 (GRCm39) |
N826S |
probably damaging |
Het |
| Tuba3a |
T |
C |
6: 125,255,433 (GRCm39) |
E414G |
probably damaging |
Het |
| Vmn2r78 |
A |
G |
7: 86,571,695 (GRCm39) |
I502V |
probably benign |
Het |
| Vmn2r79 |
A |
T |
7: 86,651,336 (GRCm39) |
Y245F |
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 |
|
|
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 |
|
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'- ACATGGACATGGGGCTATGTG -3'
(R):5'- GGTCTGCGAAGAAAGTTCTGG -3'
Sequencing Primer
(F):5'- AGGCTTTTACCACAGAGCTG -3'
(R):5'- GGAACTCTTTCTCTTCCTCTGAAAC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation