Incidental Mutation 'R4428:Gsk3b'
ID 328294
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 041698-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.944) question?
Stock # R4428 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 37909363-38066446 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 38014298 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 252 (L252Q)
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: L252Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023507
Gene: ENSMUSG00000022812
AA Change: L252Q

DomainStartEndE-ValueType
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: L252Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110398
Gene: ENSMUSG00000022812
AA Change: L252Q

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000132057
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134870
Meta Mutation Damage Score 0.7186 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (46/46)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,056,182 (GRCm39) probably benign Het
Abcc1 T A 16: 14,263,164 (GRCm39) V708E probably damaging Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Ccdc18 A G 5: 108,283,943 (GRCm39) Y82C probably benign Het
Cd82 T C 2: 93,250,214 (GRCm39) Y266C probably damaging Het
Chrna4 A G 2: 180,670,413 (GRCm39) S448P probably damaging Het
Cldn8 A C 16: 88,359,619 (GRCm39) M102R probably damaging Het
Cmpk1 T C 4: 114,820,559 (GRCm39) E180G probably benign Het
Dock8 T C 19: 25,177,863 (GRCm39) I2066T probably damaging Het
Dock8 T C 19: 25,042,754 (GRCm39) V112A probably benign Het
Fgf3 T C 7: 144,394,444 (GRCm39) V86A probably damaging Het
Frem2 A G 3: 53,561,759 (GRCm39) I916T probably benign Het
Kif18a A G 2: 109,118,466 (GRCm39) T94A probably damaging Het
Klhdc1 T A 12: 69,315,000 (GRCm39) probably benign Het
Klhl25 T A 7: 75,515,162 (GRCm39) F23I probably damaging Het
Mapk7 T C 11: 61,380,055 (GRCm39) D701G possibly damaging Het
Mbd5 A T 2: 49,169,776 (GRCm39) Q47L possibly damaging Het
Nrcam A G 12: 44,623,558 (GRCm39) D1049G possibly damaging Het
Olfml2a G T 2: 38,831,755 (GRCm39) M111I probably damaging Het
Or3a1c T C 11: 74,046,025 (GRCm39) F15S probably damaging Het
Pld2 A T 11: 70,432,160 (GRCm39) H93L probably damaging Het
Pomgnt2 T C 9: 121,811,320 (GRCm39) E487G possibly damaging Het
Psg17 G T 7: 18,550,717 (GRCm39) N379K probably benign Het
Rfk T A 19: 17,375,959 (GRCm39) H84Q possibly damaging Het
Scn8a A G 15: 100,881,784 (GRCm39) Y617C probably damaging Het
Sema3d T C 5: 12,498,087 (GRCm39) F31S probably benign Het
Shq1 T C 6: 100,647,889 (GRCm39) Y45C probably damaging Het
Siglecg C T 7: 43,067,350 (GRCm39) P639L possibly damaging Het
Skp2 A T 15: 9,117,034 (GRCm39) N325K probably benign Het
Sost G A 11: 101,857,670 (GRCm39) P44S probably damaging Het
Sp8 T A 12: 118,812,938 (GRCm39) S264R possibly damaging Het
Sun1 T C 5: 139,220,230 (GRCm39) probably benign Het
Tardbp A G 4: 148,709,659 (GRCm39) V54A possibly damaging Het
Tert T A 13: 73,775,594 (GRCm39) F115Y probably damaging Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tmem68 A T 4: 3,569,534 (GRCm39) I52K probably benign Het
Trhde A T 10: 114,339,028 (GRCm39) L594Q probably damaging Het
Umps A C 16: 33,781,956 (GRCm39) V322G probably damaging Het
Vmn2r109 T C 17: 20,773,286 (GRCm39) D445G probably benign Het
Vmn2r22 T C 6: 123,614,817 (GRCm39) T258A possibly damaging Het
Vmn2r4 C T 3: 64,322,590 (GRCm39) G43E probably damaging 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
R4594:Gsk3b UTSW 16 37,991,063 (GRCm39) missense possibly damaging 0.92
R5133:Gsk3b UTSW 16 38,060,882 (GRCm39) missense probably damaging 0.99
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
(F):5'- CTCAGGCATACAGAATAGGTTTG -3'
(R):5'- AGCCTCCTTTCCCACTGTAAAG -3'

Sequencing Primer
(F):5'- ACAATGTTTGGAATGAAACCATCAC -3'
(R):5'- CCCACTGTAAAGGTATTGCTTTG -3'
Posted On 2015-07-07