Incidental Mutation 'R5133:Gsk3b'
ID 395971
Institutional Source Beutler Lab
Gene Symbol Gsk3b
Ensembl Gene ENSMUSG00000022812
Gene Name glycogen synthase kinase 3 beta
Synonyms 8430431H08Rik, GSK-3, GSK3, 7330414F15Rik, GSK-3beta
MMRRC Submission 042721-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.944) question?
Stock # R5133 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 37909363-38066446 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 38060882 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 418 (R418H)
Ref Sequence ENSEMBL: ENSMUSP00000110398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023507] [ENSMUST00000114750]
AlphaFold Q9WV60
Predicted Effect probably damaging
Transcript: ENSMUST00000023507
AA Change: R405H

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000023507
Gene: ENSMUSG00000022812
AA Change: R405H

S_TKc 56 340 1.72e-86 SMART
low complexity region 386 402 N/A INTRINSIC
low complexity region 409 419 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114750
AA Change: R418H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110398
Gene: ENSMUSG00000022812
AA Change: R418H

S_TKc 56 353 1.13e-86 SMART
low complexity region 399 415 N/A INTRINSIC
low complexity region 422 432 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000231437
AA Change: V24M
Meta Mutation Damage Score 0.1325 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.0%
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 is a serine-threonine kinase, belonging to the glycogen synthase kinase subfamily. It is involved in energy metabolism, neuronal cell development, and body pattern formation. Polymorphisms in this gene have been implicated in modifying risk of Parkinson disease, and studies in mice show that overexpression of this gene may be relevant to the pathogenesis of Alzheimer disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene may die embryonically around mid-gestation or neonatally. When mice die neonatally, cleft palate and sternum are present. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 A T 4: 128,655,934 (GRCm39) T101S probably damaging Het
Abraxas2 C T 7: 132,484,875 (GRCm39) A306V probably benign Het
Acvr1c T A 2: 58,173,518 (GRCm39) N248I probably damaging Het
Adgrv1 C T 13: 81,587,560 (GRCm39) R4537Q probably damaging Het
Adrb3 A C 8: 27,717,798 (GRCm39) M217R probably damaging Het
Afg3l1 T C 8: 124,216,532 (GRCm39) V257A probably benign Het
Agbl1 C A 7: 76,071,904 (GRCm39) Q334K probably benign Het
Aox4 A T 1: 58,275,835 (GRCm39) D389V probably benign Het
Apob A T 12: 8,058,898 (GRCm39) Q2427L probably damaging Het
Asxl3 T C 18: 22,649,765 (GRCm39) C585R probably damaging Het
Baz2a G A 10: 127,951,995 (GRCm39) G571D probably damaging Het
Baz2b A T 2: 59,792,368 (GRCm39) S587T probably benign Het
Bicdl2 T C 17: 23,880,795 (GRCm39) L14P unknown Het
Cachd1 G A 4: 100,851,935 (GRCm39) S1177N probably damaging Het
Cacna2d3 A G 14: 29,015,135 (GRCm39) F86L possibly damaging Het
Ccdc192 C T 18: 57,697,041 (GRCm39) T65I possibly damaging Het
Cd3d A T 9: 44,896,296 (GRCm39) E28D probably damaging Het
Cmya5 T C 13: 93,229,880 (GRCm39) K1736R possibly damaging Het
Col12a1 A G 9: 79,512,456 (GRCm39) V2913A probably damaging Het
Cops8 A G 1: 90,538,724 (GRCm39) D51G probably damaging Het
Csgalnact1 T C 8: 68,913,623 (GRCm39) E194G probably benign Het
Csn1s1 A G 5: 87,828,737 (GRCm39) D267G possibly damaging Het
Cyp2c40 T C 19: 39,795,663 (GRCm39) N172S probably benign Het
Dhtkd1 T A 2: 5,908,813 (GRCm39) K760N probably damaging Het
Dnah17 T C 11: 118,007,939 (GRCm39) K691E probably benign Het
Dppa4 G A 16: 48,113,334 (GRCm39) R189Q probably benign Het
Dsp G A 13: 38,381,678 (GRCm39) D2808N possibly damaging Het
Egr2 A G 10: 67,375,605 (GRCm39) E17G probably damaging Het
Ehmt1 G T 2: 24,767,509 (GRCm39) P135T probably damaging Het
Epas1 A G 17: 87,116,882 (GRCm39) N184S probably damaging Het
Ezh2 C T 6: 47,517,684 (GRCm39) C584Y probably damaging Het
F10 T C 8: 13,105,698 (GRCm39) V421A probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fam186a T G 15: 99,853,374 (GRCm39) D122A unknown Het
Fam227b G A 2: 125,958,043 (GRCm39) P241S probably damaging Het
Fam234b T C 6: 135,186,193 (GRCm39) V67A probably benign Het
Fbn2 T C 18: 58,172,412 (GRCm39) D2131G probably damaging Het
Fgfr4 T C 13: 55,307,828 (GRCm39) Y271H probably damaging Het
Gnmt A T 17: 47,036,860 (GRCm39) S250T probably benign Het
Golgb1 C A 16: 36,711,819 (GRCm39) Q208K possibly damaging Het
Grn C A 11: 102,321,380 (GRCm39) probably benign Het
Grwd1 T C 7: 45,475,298 (GRCm39) T415A probably benign Het
Hap1 T G 11: 100,242,357 (GRCm39) M382L probably benign Het
Hspa12b A G 2: 130,981,428 (GRCm39) E221G possibly damaging Het
Hspa4l T A 3: 40,741,179 (GRCm39) D709E possibly damaging Het
Il17ra A G 6: 120,458,514 (GRCm39) E555G possibly damaging Het
Il27ra T C 8: 84,760,688 (GRCm39) T426A possibly damaging Het
Jup T C 11: 100,273,941 (GRCm39) D200G probably benign Het
Kcnq1 T C 7: 142,748,083 (GRCm39) probably null Het
Kctd9 C T 14: 67,966,805 (GRCm39) T106I probably damaging Het
Kmt5b T A 19: 3,852,240 (GRCm39) H159Q probably damaging Het
Kprp C T 3: 92,731,829 (GRCm39) R407Q unknown Het
Kras T C 6: 145,177,879 (GRCm39) Q131R probably benign Het
Krt16 T A 11: 100,138,457 (GRCm39) R230S probably damaging Het
Lpar6 G A 14: 73,476,147 (GRCm39) C36Y probably damaging Het
Lrp10 T C 14: 54,707,067 (GRCm39) S635P probably benign Het
Mapre2 C A 18: 23,991,190 (GRCm39) H153N possibly damaging Het
Mark3 C A 12: 111,621,762 (GRCm39) R703S probably damaging Het
Mboat2 A G 12: 25,009,065 (GRCm39) D457G probably benign Het
Med13 T C 11: 86,210,675 (GRCm39) D489G probably benign Het
Msh2 C A 17: 88,030,841 (GRCm39) A906E probably benign Het
Mtus1 T C 8: 41,536,229 (GRCm39) T496A probably benign Het
Nckap5 T C 1: 125,961,697 (GRCm39) H204R probably benign Het
Nlrc4 G T 17: 74,753,712 (GRCm39) P224T possibly damaging Het
Oprl1 T A 2: 181,360,403 (GRCm39) I153N probably damaging Het
Or13a27 A T 7: 139,925,236 (GRCm39) I222N probably damaging Het
Or4c116 A T 2: 88,942,140 (GRCm39) probably null Het
Or5an1 T C 19: 12,260,670 (GRCm39) L86P possibly damaging Het
Or5b121 T A 19: 13,507,442 (GRCm39) M135K probably damaging Het
Otud4 G A 8: 80,382,318 (GRCm39) V176I probably damaging Het
Pcdhb5 T C 18: 37,453,943 (GRCm39) F108L probably benign Het
Pde8b T C 13: 95,223,250 (GRCm39) I335V probably benign Het
Pdzd7 T A 19: 45,016,868 (GRCm39) I886L possibly damaging Het
Prune2 C T 19: 16,980,995 (GRCm39) P51S probably damaging Het
Ptpre C T 7: 135,270,861 (GRCm39) H346Y probably benign Het
Pwwp3a T C 10: 80,068,702 (GRCm39) L282P probably benign Het
Rab27b T C 18: 70,122,659 (GRCm39) D100G probably damaging Het
Rpf1 A G 3: 146,212,293 (GRCm39) L349S probably damaging Het
Samd14 T C 11: 94,912,409 (GRCm39) S233P probably damaging Het
Sema6a C A 18: 47,433,195 (GRCm39) V79F probably damaging Het
Setbp1 A G 18: 78,900,697 (GRCm39) I990T probably damaging Het
Setx A G 2: 29,070,093 (GRCm39) R2633G probably benign Het
Siae T G 9: 37,557,816 (GRCm39) I541S possibly damaging Het
Slc13a1 A G 6: 24,103,428 (GRCm39) S372P possibly damaging Het
Smarcc2 T C 10: 128,297,342 (GRCm39) probably null Het
Snrpf T C 10: 93,423,985 (GRCm39) S2G probably benign Het
Speer2 C A 16: 69,655,708 (GRCm39) K39N probably null Het
Spink5 T G 18: 44,119,490 (GRCm39) F267C probably damaging Het
Tgfbrap1 G T 1: 43,114,666 (GRCm39) R145S probably damaging Het
Tmem161b C A 13: 84,442,887 (GRCm39) T269K possibly damaging Het
Tmem64 T C 4: 15,281,119 (GRCm39) I304T probably damaging Het
Tomm7 A G 5: 24,049,004 (GRCm39) I23T probably benign Het
Top6bl T A 19: 4,708,449 (GRCm39) S194C probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ttr C T 18: 20,803,167 (GRCm39) A111V possibly damaging Het
Usp47 T A 7: 111,683,089 (GRCm39) Y561N probably damaging Het
Vmn1r17 A G 6: 57,337,828 (GRCm39) V130A probably benign Het
Wdr45b A G 11: 121,219,621 (GRCm39) I309T probably benign Het
Wnt6 T C 1: 74,823,755 (GRCm39) L364P probably damaging Het
Zc3h13 T C 14: 75,573,449 (GRCm39) L1530P probably damaging Het
Zfp933 A G 4: 147,911,321 (GRCm39) W60R probably benign Het
Other mutations in Gsk3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Gsk3b APN 16 38,049,069 (GRCm39) missense probably benign
IGL01302:Gsk3b APN 16 38,040,380 (GRCm39) missense probably benign 0.01
blue_bunny UTSW 16 38,028,498 (GRCm39) intron probably benign
PIT4402001:Gsk3b UTSW 16 37,909,763 (GRCm39) unclassified probably benign
PIT4585001:Gsk3b UTSW 16 38,004,816 (GRCm39) missense probably damaging 1.00
R0670:Gsk3b UTSW 16 37,964,678 (GRCm39) missense probably damaging 1.00
R1118:Gsk3b UTSW 16 38,028,346 (GRCm39) unclassified probably benign
R1119:Gsk3b UTSW 16 38,028,346 (GRCm39) unclassified probably benign
R1428:Gsk3b UTSW 16 37,910,937 (GRCm39) missense probably benign 0.01
R1897:Gsk3b UTSW 16 38,037,446 (GRCm39) splice site probably null
R2056:Gsk3b UTSW 16 38,008,271 (GRCm39) missense probably benign
R2058:Gsk3b UTSW 16 38,008,271 (GRCm39) missense probably benign
R2059:Gsk3b UTSW 16 38,008,271 (GRCm39) missense probably benign
R4428:Gsk3b UTSW 16 38,014,298 (GRCm39) missense probably damaging 1.00
R4594:Gsk3b UTSW 16 37,991,063 (GRCm39) missense possibly damaging 0.92
R5134:Gsk3b UTSW 16 38,060,882 (GRCm39) missense probably damaging 0.99
R5726:Gsk3b UTSW 16 38,028,498 (GRCm39) intron probably benign
R5957:Gsk3b UTSW 16 38,014,315 (GRCm39) missense probably damaging 1.00
R6273:Gsk3b UTSW 16 38,028,408 (GRCm39) missense probably benign 0.00
R6431:Gsk3b UTSW 16 38,014,311 (GRCm39) missense probably damaging 0.99
R8344:Gsk3b UTSW 16 38,011,987 (GRCm39) missense probably benign 0.07
R8855:Gsk3b UTSW 16 38,004,900 (GRCm39) missense probably damaging 1.00
R8866:Gsk3b UTSW 16 38,004,900 (GRCm39) missense probably damaging 1.00
Z1176:Gsk3b UTSW 16 38,028,432 (GRCm39) nonsense probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-06-21