Incidental Mutation 'R9185:Gys2'
| ID |
697305 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gys2
|
| Ensembl Gene |
ENSMUSG00000030244 |
| Gene Name |
glycogen synthase 2 |
| Synonyms |
glycogen synthase, liver, LGS |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.299)
|
| Stock # |
R9185 (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 142405112 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 225
(D225G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032371
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032371]
|
| AlphaFold |
Q8VCB3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032371
AA Change: D225G
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000032371
Gene: ENSMUSG00000030244
AA Change: D225G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycogen_syn
|
32 |
667 |
N/A |
PFAM |
|
| Meta Mutation Damage Score |
0.1618 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (71/71) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
A |
G |
7: 119,177,421 (GRCm39) |
H312R |
possibly damaging |
Het |
| Aloxe3 |
T |
C |
11: 69,025,114 (GRCm39) |
F409S |
probably damaging |
Het |
| Arfgef1 |
T |
A |
1: 10,215,004 (GRCm39) |
N1630I |
probably damaging |
Het |
| Catsperd |
G |
A |
17: 56,968,252 (GRCm39) |
D546N |
probably benign |
Het |
| Cbl |
A |
G |
9: 44,064,137 (GRCm39) |
S800P |
probably damaging |
Het |
| Ccne1 |
A |
T |
7: 37,799,255 (GRCm39) |
S220T |
probably benign |
Het |
| Cd177 |
T |
C |
7: 24,443,668 (GRCm39) |
Y810C |
probably benign |
Het |
| Cercam |
T |
C |
2: 29,766,033 (GRCm39) |
V304A |
possibly damaging |
Het |
| Cfap100 |
T |
C |
6: 90,390,416 (GRCm39) |
T75A |
|
Het |
| Clcn4 |
T |
A |
7: 7,287,197 (GRCm39) |
I744F |
possibly damaging |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Col27a1 |
A |
G |
4: 63,246,887 (GRCm39) |
N1670S |
unknown |
Het |
| Cps1 |
G |
A |
1: 67,248,831 (GRCm39) |
R1186Q |
probably benign |
Het |
| Cr1l |
C |
A |
1: 194,797,053 (GRCm39) |
C328F |
probably damaging |
Het |
| Crybg1 |
T |
A |
10: 43,880,091 (GRCm39) |
T366S |
probably benign |
Het |
| Ctbp2 |
A |
T |
7: 132,615,712 (GRCm39) |
S408T |
probably damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,601,937 (GRCm39) |
S1992P |
probably benign |
Het |
| Glyatl3 |
A |
T |
17: 41,225,234 (GRCm39) |
V3E |
probably damaging |
Het |
| Gse1 |
T |
C |
8: 121,294,908 (GRCm39) |
M343T |
possibly damaging |
Het |
| Hecw1 |
T |
C |
13: 14,491,628 (GRCm39) |
S42G |
probably damaging |
Het |
| Helz2 |
A |
G |
2: 180,871,883 (GRCm39) |
C2673R |
probably benign |
Het |
| Hivep1 |
G |
A |
13: 42,337,975 (GRCm39) |
V2685I |
possibly damaging |
Het |
| Icam5 |
A |
G |
9: 20,950,165 (GRCm39) |
E908G |
probably damaging |
Het |
| Kcne1 |
A |
T |
16: 92,145,796 (GRCm39) |
L16Q |
possibly damaging |
Het |
| Kcnk5 |
G |
T |
14: 20,195,135 (GRCm39) |
Y118* |
probably null |
Het |
| Kctd11 |
T |
C |
11: 69,770,676 (GRCm39) |
T121A |
possibly damaging |
Het |
| Mier3 |
T |
C |
13: 111,851,260 (GRCm39) |
V414A |
probably benign |
Het |
| Mindy4 |
T |
C |
6: 55,295,261 (GRCm39) |
S734P |
possibly damaging |
Het |
| Mrps26 |
T |
C |
2: 130,405,769 (GRCm39) |
V24A |
probably benign |
Het |
| Mug2 |
C |
G |
6: 122,054,442 (GRCm39) |
Q1074E |
probably benign |
Het |
| Myo15b |
T |
C |
11: 115,771,255 (GRCm39) |
S1P |
unknown |
Het |
| Ninj1 |
A |
T |
13: 49,344,726 (GRCm39) |
T81S |
probably benign |
Het |
| Nod2 |
A |
T |
8: 89,391,880 (GRCm39) |
H729L |
probably damaging |
Het |
| Nr1i3 |
G |
A |
1: 171,043,955 (GRCm39) |
V49I |
possibly damaging |
Het |
| Olfm5 |
G |
A |
7: 103,810,095 (GRCm39) |
Q89* |
probably null |
Het |
| Or10ag52 |
A |
T |
2: 87,044,174 (GRCm39) |
T313S |
probably benign |
Het |
| Or2n1b |
A |
T |
17: 38,459,754 (GRCm39) |
I92F |
probably damaging |
Het |
| Or2y12 |
T |
C |
11: 49,426,501 (GRCm39) |
V163A |
probably benign |
Het |
| Or4e1 |
A |
G |
14: 52,700,984 (GRCm39) |
S161P |
probably benign |
Het |
| Or51a25 |
C |
T |
7: 102,373,409 (GRCm39) |
R96H |
possibly damaging |
Het |
| Or5aq6 |
A |
C |
2: 86,923,200 (GRCm39) |
D180E |
possibly damaging |
Het |
| Or5b124 |
A |
T |
19: 13,610,765 (GRCm39) |
T97S |
probably benign |
Het |
| Or8g53 |
T |
A |
9: 39,683,404 (GRCm39) |
T231S |
probably benign |
Het |
| Pde4dip |
T |
A |
3: 97,666,132 (GRCm39) |
T371S |
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,453,019 (GRCm39) |
S3981R |
probably benign |
Het |
| Plxnd1 |
G |
T |
6: 115,934,526 (GRCm39) |
F1802L |
probably damaging |
Het |
| Pramel22 |
T |
C |
4: 143,381,898 (GRCm39) |
N266S |
probably benign |
Het |
| Prcp |
A |
G |
7: 92,582,257 (GRCm39) |
H449R |
probably benign |
Het |
| Prrc2c |
A |
G |
1: 162,532,212 (GRCm39) |
W1468R |
unknown |
Het |
| Rcvrn |
A |
G |
11: 67,586,480 (GRCm39) |
T80A |
possibly damaging |
Het |
| Rhou |
T |
C |
8: 124,387,793 (GRCm39) |
L175P |
probably damaging |
Het |
| Sacs |
T |
C |
14: 61,444,115 (GRCm39) |
S2054P |
probably damaging |
Het |
| Slc22a30 |
A |
G |
19: 8,321,917 (GRCm39) |
S414P |
probably benign |
Het |
| Slc2a13 |
T |
A |
15: 91,227,906 (GRCm39) |
S429C |
probably damaging |
Het |
| Slc35b3 |
A |
G |
13: 39,123,958 (GRCm39) |
|
probably benign |
Het |
| Smyd3 |
A |
G |
1: 178,877,854 (GRCm39) |
|
probably null |
Het |
| Strip1 |
T |
A |
3: 107,535,530 (GRCm39) |
E64D |
probably damaging |
Het |
| Sumf2 |
T |
G |
5: 129,875,909 (GRCm39) |
C25G |
possibly damaging |
Het |
| Syngap1 |
A |
C |
17: 27,182,057 (GRCm39) |
D1190A |
possibly damaging |
Het |
| Tas2r139 |
C |
T |
6: 42,118,099 (GRCm39) |
T77I |
probably benign |
Het |
| Tbce |
A |
T |
13: 14,173,027 (GRCm39) |
V468D |
probably damaging |
Het |
| Tmem191 |
G |
A |
16: 17,094,302 (GRCm39) |
R42H |
probably damaging |
Het |
| Tmem200c |
T |
C |
17: 69,147,633 (GRCm39) |
V72A |
probably damaging |
Het |
| Ttc28 |
T |
G |
5: 111,371,342 (GRCm39) |
F628C |
probably benign |
Het |
| Wsb2 |
G |
A |
5: 117,501,736 (GRCm39) |
V34M |
possibly damaging |
Het |
| Zfand6 |
A |
G |
7: 84,283,558 (GRCm39) |
S15P |
probably damaging |
Het |
| Zfp964 |
A |
G |
8: 70,115,873 (GRCm39) |
N158D |
possibly damaging |
Het |
| Zic1 |
G |
T |
9: 91,246,542 (GRCm39) |
Q177K |
probably benign |
Het |
| Zswim4 |
T |
C |
8: 84,963,633 (GRCm39) |
M1V |
probably null |
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 |
|
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 |
|
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'- GGGAGCAGAATTCAGGTCTCTC -3'
(R):5'- ACGCAGACGGTAAACACGTC -3'
Sequencing Primer
(F):5'- TGCACTCTGAGCAAAATTAAGC -3'
(R):5'- GACGGTAAACACGTCATTGC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation