Incidental Mutation 'R3902:Gys2'
| ID |
309232 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gys2
|
| Ensembl Gene |
ENSMUSG00000030244 |
| Gene Name |
glycogen synthase 2 |
| Synonyms |
glycogen synthase, liver, LGS |
| MMRRC Submission |
040811-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.347)
|
| Stock # |
R3902 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
142368339-142418835 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to G
at 142418526 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 1
(M1T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032371
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032371]
|
| AlphaFold |
Q8VCB3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000032371
AA Change: M1T
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000032371
Gene: ENSMUSG00000030244
AA Change: M1T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycogen_syn
|
32 |
667 |
N/A |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atmin |
A |
G |
8: 117,683,036 (GRCm39) |
N232S |
probably benign |
Het |
| Brat1 |
A |
C |
5: 140,703,751 (GRCm39) |
D668A |
possibly damaging |
Het |
| Eif2b3 |
C |
T |
4: 116,879,404 (GRCm39) |
R15W |
probably damaging |
Het |
| Eprs1 |
G |
A |
1: 185,111,939 (GRCm39) |
|
probably null |
Het |
| F5 |
A |
G |
1: 164,003,798 (GRCm39) |
T198A |
probably benign |
Het |
| Fbxl20 |
T |
A |
11: 97,987,861 (GRCm39) |
T61S |
probably benign |
Het |
| Fry |
A |
G |
5: 150,269,392 (GRCm39) |
E211G |
probably damaging |
Het |
| Gatd1 |
A |
G |
7: 140,989,014 (GRCm39) |
L215P |
probably damaging |
Het |
| Hacd4 |
A |
C |
4: 88,355,738 (GRCm39) |
I49R |
probably damaging |
Het |
| Jph3 |
G |
T |
8: 122,480,158 (GRCm39) |
D279Y |
possibly damaging |
Het |
| Klhl26 |
T |
C |
8: 70,905,016 (GRCm39) |
D217G |
probably damaging |
Het |
| Kmt2e |
A |
G |
5: 23,706,640 (GRCm39) |
N1401S |
probably benign |
Het |
| Mettl21a |
C |
T |
1: 64,647,240 (GRCm39) |
V106I |
probably benign |
Het |
| Mpdz |
A |
G |
4: 81,225,353 (GRCm39) |
V1427A |
probably damaging |
Het |
| Mug2 |
A |
T |
6: 122,052,526 (GRCm39) |
D1024V |
probably damaging |
Het |
| Myl7 |
T |
A |
11: 5,848,430 (GRCm39) |
K38M |
probably damaging |
Het |
| Myl7 |
T |
G |
11: 5,848,431 (GRCm39) |
K38Q |
probably damaging |
Het |
| Myom2 |
T |
C |
8: 15,154,165 (GRCm39) |
V701A |
probably benign |
Het |
| Nipbl |
A |
G |
15: 8,379,730 (GRCm39) |
S1021P |
possibly damaging |
Het |
| Optc |
A |
G |
1: 133,825,701 (GRCm39) |
M275T |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,762,536 (GRCm39) |
T385S |
probably benign |
Het |
| Pdgfra |
T |
A |
5: 75,353,169 (GRCm39) |
N986K |
probably benign |
Het |
| Pira1 |
G |
A |
7: 3,740,276 (GRCm39) |
T315I |
probably damaging |
Het |
| Plekhn1 |
T |
A |
4: 156,310,126 (GRCm39) |
I63F |
possibly damaging |
Het |
| Pogk |
C |
T |
1: 166,231,193 (GRCm39) |
V45I |
probably damaging |
Het |
| Rassf1 |
A |
G |
9: 107,432,039 (GRCm39) |
Y21C |
probably damaging |
Het |
| Slc12a1 |
A |
T |
2: 125,030,113 (GRCm39) |
I562F |
probably damaging |
Het |
| Slc16a6 |
A |
G |
11: 109,349,387 (GRCm39) |
S141P |
probably damaging |
Het |
| Sntn |
T |
C |
14: 13,679,084 (GRCm38) |
L86P |
probably damaging |
Het |
| Styx-ps |
A |
G |
X: 67,865,253 (GRCm39) |
M101V |
probably benign |
Het |
| Taar4 |
T |
A |
10: 23,836,913 (GRCm39) |
N174K |
probably damaging |
Het |
| Trav12-3 |
G |
T |
14: 53,859,486 (GRCm39) |
C44F |
probably damaging |
Het |
| Triml2 |
A |
G |
8: 43,643,397 (GRCm39) |
R240G |
probably benign |
Het |
| Vmn1r3 |
A |
G |
4: 3,185,241 (GRCm39) |
M22T |
probably benign |
Het |
| Vmn2r7 |
C |
A |
3: 64,626,937 (GRCm39) |
Q26H |
possibly damaging |
Het |
| Vmn2r72 |
T |
C |
7: 85,398,943 (GRCm39) |
D470G |
possibly damaging |
Het |
| Xpo6 |
A |
G |
7: 125,719,581 (GRCm39) |
Y602H |
probably damaging |
Het |
| Zfp287 |
T |
C |
11: 62,603,028 (GRCm39) |
T241A |
probably benign |
Het |
| Zfp386 |
A |
G |
12: 116,023,775 (GRCm39) |
K498E |
probably damaging |
Het |
| Zzef1 |
T |
C |
11: 72,799,326 (GRCm39) |
L2392P |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAAAGAGTTTTATGACCTACAGAC -3'
(R):5'- TCTCCTGAAAGGCAGCAAGG -3'
Sequencing Primer
(F):5'- TTTATGACCTACAGACACCTTCAGAG -3'
(R):5'- GAGCTGGGCACGCTTCATC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation