Incidental Mutation 'R0024:Eif2ak3'
ID18693
Institutional Source Beutler Lab
Gene Symbol Eif2ak3
Ensembl Gene ENSMUSG00000031668
Gene Nameeukaryotic translation initiation factor 2 alpha kinase 3
SynonymsPERK
MMRRC Submission 038319-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.725) question?
Stock #R0024 (G1)
Quality Score
Status Validated
Chromosome6
Chromosomal Location70844515-70905245 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 70892356 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 676 (T676A)
Ref Sequence ENSEMBL: ENSMUSP00000034093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034093]
Predicted Effect probably benign
Transcript: ENSMUST00000034093
AA Change: T676A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000034093
Gene: ENSMUSG00000031668
AA Change: T676A

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
low complexity region 48 82 N/A INTRINSIC
low complexity region 125 139 N/A INTRINSIC
low complexity region 221 230 N/A INTRINSIC
low complexity region 470 481 N/A INTRINSIC
Pfam:Pkinase_Tyr 589 662 1.6e-6 PFAM
Pfam:Pkinase 589 673 3.2e-12 PFAM
Pfam:Pkinase 839 1075 1.9e-38 PFAM
Pfam:Pkinase_Tyr 859 1073 5.8e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159401
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161316
Meta Mutation Damage Score 0.042 question?
Coding Region Coverage
  • 1x: 79.2%
  • 3x: 69.7%
  • 10x: 44.0%
  • 20x: 23.5%
Validation Efficiency 95% (75/79)
MGI Phenotype FUNCTION: The protein encoded by this gene phosphorylates the alpha subunit of eukaryotic translation-initiation factor 2, leading to its inactivation, and thus to a rapid reduction of translational initiation and repression of global protein synthesis. This protein is thought to modulate mitochondrial function. It is a type I membrane protein located in the endoplasmic reticulum (ER), where it is induced by ER stress caused by malfolded proteins. Mutations in a similar gene in human are associated with Wolcott-Rallison syndrome. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous mutant mice develop exocrine pancreatic insufficiency and progressive diabetes mellitus. They are growth retarded, hyperglycemic, exhibit increased cell death in the pancreas, have decreased numbers of pancreatic beta cells and about half diebefore weaning. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre5 T C 8: 83,728,284 T260A probably damaging Het
Ahctf1 G A 1: 179,752,436 T2067M probably damaging Het
Akip1 T C 7: 109,704,138 S63P probably benign Het
Ankrd34c G A 9: 89,729,527 P254S possibly damaging Het
Aqp8 T C 7: 123,467,440 I256T probably benign Het
Arnt2 A G 7: 84,284,126 V308A probably benign Het
Astn1 G A 1: 158,684,215 S1209N probably damaging Het
Atf7ip T C 6: 136,599,820 probably benign Het
Bbx T A 16: 50,224,918 M427L probably benign Het
Cadm4 T C 7: 24,502,744 L336P probably benign Het
Camk2d A G 3: 126,797,723 M281V probably benign Het
Dll3 A G 7: 28,300,161 probably benign Het
Dscam G A 16: 96,593,385 R1906* probably null Het
Dst C T 1: 34,189,119 P1606L probably damaging Het
Entpd5 T C 12: 84,373,733 M428T probably benign Het
Fry T G 5: 150,380,803 S553A probably benign Het
Gls2 G A 10: 128,199,256 R86H probably damaging Het
Gm14340 T A 2: 180,824,250 noncoding transcript Het
Gm9457 A C 8: 4,813,131 noncoding transcript Het
Hfm1 T C 5: 106,856,924 K1179E probably benign Het
Iqgap1 T C 7: 80,751,939 T473A probably benign Het
Krt34 A T 11: 100,041,037 C119S probably benign Het
Krt6a A G 15: 101,690,715 probably benign Het
Lysmd4 A G 7: 67,226,080 T164A probably benign Het
Mroh2b T A 15: 4,925,627 Y701N probably damaging Het
Pi4ka T C 16: 17,315,535 probably benign Het
Plcb1 A G 2: 135,362,425 S900G probably benign Het
Plxna2 T A 1: 194,643,995 I79N possibly damaging Het
Prpf31 C A 7: 3,636,659 probably null Het
Ptpro T A 6: 137,443,594 V1007D probably damaging Het
Rsc1a1 T C 4: 141,685,272 K110E probably benign Het
Sin3a T A 9: 57,118,253 probably benign Het
Slc24a2 T C 4: 87,028,240 probably benign Het
Slc6a3 A T 13: 73,540,837 probably benign Het
St5 T C 7: 109,524,659 H1131R probably damaging Het
Sugct G A 13: 16,857,869 H433Y probably benign Het
Sycp2l A G 13: 41,141,788 I310M probably damaging Het
Tpm3 C A 3: 90,087,449 probably null Het
Ttc27 T C 17: 74,770,264 F385L possibly damaging Het
Utrn A G 10: 12,406,011 V3301A probably benign Het
Other mutations in Eif2ak3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01386:Eif2ak3 APN 6 70892726 missense probably damaging 1.00
IGL02069:Eif2ak3 APN 6 70896965 missense probably damaging 1.00
IGL02197:Eif2ak3 APN 6 70901457 missense probably benign 0.37
IGL03150:Eif2ak3 APN 6 70892436 missense possibly damaging 0.68
R0130:Eif2ak3 UTSW 6 70881732 splice site probably benign
R0394:Eif2ak3 UTSW 6 70885218 missense probably benign 0.03
R0699:Eif2ak3 UTSW 6 70892530 missense probably benign 0.16
R1648:Eif2ak3 UTSW 6 70883631 missense possibly damaging 0.52
R1708:Eif2ak3 UTSW 6 70887806 missense probably damaging 0.99
R1953:Eif2ak3 UTSW 6 70892554 missense probably benign 0.03
R2062:Eif2ak3 UTSW 6 70904197 missense probably benign 0.02
R2875:Eif2ak3 UTSW 6 70883639 missense probably damaging 1.00
R4260:Eif2ak3 UTSW 6 70889513 missense probably damaging 0.98
R4357:Eif2ak3 UTSW 6 70884875 missense probably damaging 0.98
R4786:Eif2ak3 UTSW 6 70892618 missense possibly damaging 0.95
R4801:Eif2ak3 UTSW 6 70887893 missense probably benign 0.01
R4802:Eif2ak3 UTSW 6 70887893 missense probably benign 0.01
R5194:Eif2ak3 UTSW 6 70858478 missense possibly damaging 0.83
R5260:Eif2ak3 UTSW 6 70893129 missense probably damaging 1.00
R5710:Eif2ak3 UTSW 6 70883733 missense probably damaging 1.00
R5724:Eif2ak3 UTSW 6 70876840 missense probably benign 0.19
R6089:Eif2ak3 UTSW 6 70896934 missense possibly damaging 0.87
R6656:Eif2ak3 UTSW 6 70883715 missense probably damaging 1.00
R6940:Eif2ak3 UTSW 6 70892402 missense possibly damaging 0.82
R6949:Eif2ak3 UTSW 6 70878845 missense probably damaging 0.99
R6958:Eif2ak3 UTSW 6 70892683 missense probably benign 0.01
R7168:Eif2ak3 UTSW 6 70881626 missense probably benign
Posted On2013-03-25