Incidental Mutation 'IGL00569:Eif2ak2'
ID10458
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eif2ak2
Ensembl Gene ENSMUSG00000024079
Gene Nameeukaryotic translation initiation factor 2-alpha kinase 2
SynonymsdsRNA-activated kinase, eIF-2 alpha, eIF-2 alpha, IFN- type I-induced and dsRNA-activated kinase, IFN-induced and double-stranded RNA-activated kinase, Pkr, Prkr, Tik
Accession Numbers

Genbank: NM_011163; MGI: 1353449

Is this an essential gene? Possibly essential (E-score: 0.627) question?
Stock #IGL00569
Quality Score
Status
Chromosome17
Chromosomal Location78852564-78882573 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 78869483 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 218 (S218T)
Ref Sequence ENSEMBL: ENSMUSP00000024884 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024884]
PDB Structure
Solution structure of the second DSRM domain in Interferon-induced, double-stranded RNA-activated protein kinase [SOLUTION NMR]
Solution structure of the first DSRM domain in Interferon-induced, double-stranded RNA-activated protein kinase [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000024884
AA Change: S218T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000024884
Gene: ENSMUSG00000024079
AA Change: S218T

DomainStartEndE-ValueType
DSRM 9 75 2.34e-20 SMART
DSRM 96 161 7.66e-16 SMART
low complexity region 169 196 N/A INTRINSIC
Pfam:Pkinase 242 500 4.6e-56 PFAM
Pfam:Pkinase_Tyr 242 500 8e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171852
Coding Region Coverage
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 protein kinase that is activated by autophosphorylation after binding to dsRNA. The activated form of the encoded protein can phosphorylate translation initiation factor EIF2S1, which in turn inhibits protein synthesis. This protein is also activated by manganese ions and heparin. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene display altered susceptibility to viral infection. [provided by MGI curators]
Allele List at MGI

 All alleles(7) : Targeted, knock-out(2) Gene trapped(5)

Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932431P20Rik A T 7: 29,534,140 noncoding transcript Het
Abca6 T G 11: 110,187,049 N1311H possibly damaging Het
Apol8 C T 15: 77,750,055 R107H probably benign Het
Cacna1a T A 8: 84,462,714 I98N probably damaging Het
Clps T A 17: 28,560,662 probably benign Het
Dcc T A 18: 71,384,225 probably null Het
Dock10 A G 1: 80,585,012 F544L probably damaging Het
Faf1 T C 4: 109,961,880 *650Q probably null Het
Fxn A T 19: 24,267,350 I142N probably damaging Het
Gm10610 A T 7: 83,549,570 noncoding transcript Het
Gm9774 T C 3: 92,428,400 T332A probably benign Het
Hspa1l C T 17: 34,977,465 T160I probably damaging Het
Kcng4 A G 8: 119,626,331 V280A probably benign Het
Khsrp T C 17: 57,023,092 T646A possibly damaging Het
Lilra6 A G 7: 3,914,589 S136P probably damaging Het
Lmo7 T G 14: 101,887,051 N315K probably damaging Het
Map3k5 A G 10: 19,935,044 T147A possibly damaging Het
Mical3 T C 6: 120,961,624 E1134G possibly damaging Het
Nek3 A G 8: 22,158,706 L103P probably damaging Het
Nudt17 G T 3: 96,707,027 P222Q probably damaging Het
Pla2r1 G T 2: 60,420,425 T1386K probably benign Het
Ptpn13 A G 5: 103,591,006 probably benign Het
Rgl1 A C 1: 152,571,617 S134A probably benign Het
Rnls T A 19: 33,168,488 E195V probably benign Het
Sall4 T C 2: 168,755,312 N536S probably benign Het
Serinc3 G T 2: 163,628,001 P309Q probably damaging Het
Smc5 G A 19: 23,235,965 R528C probably damaging Het
Stxbp3-ps A T 19: 9,557,822 noncoding transcript Het
Tmem67 T A 4: 12,061,826 I549L probably damaging Het
Trank1 C A 9: 111,345,511 H269N possibly damaging Het
Other mutations in Eif2ak2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01017:Eif2ak2 APN 17 78863858 missense probably damaging 1.00
IGL01068:Eif2ak2 APN 17 78865371 missense probably damaging 1.00
3-1:Eif2ak2 UTSW 17 78869498 missense probably benign 0.00
R0038:Eif2ak2 UTSW 17 78863955 missense probably benign
R0801:Eif2ak2 UTSW 17 78866349 nonsense probably null
R1702:Eif2ak2 UTSW 17 78856634 missense probably damaging 1.00
R2020:Eif2ak2 UTSW 17 78863963 missense possibly damaging 0.87
R2159:Eif2ak2 UTSW 17 78874018 missense possibly damaging 0.77
R3405:Eif2ak2 UTSW 17 78858639 splice site probably benign
R3406:Eif2ak2 UTSW 17 78858639 splice site probably benign
R4355:Eif2ak2 UTSW 17 78858534 missense probably benign 0.08
R5135:Eif2ak2 UTSW 17 78866345 missense probably damaging 0.96
R5145:Eif2ak2 UTSW 17 78876204 missense possibly damaging 0.60
R5336:Eif2ak2 UTSW 17 78874043 missense probably benign 0.00
R6195:Eif2ak2 UTSW 17 78871233 nonsense probably null
R6233:Eif2ak2 UTSW 17 78871233 nonsense probably null
R6417:Eif2ak2 UTSW 17 78856619 missense probably damaging 1.00
R6737:Eif2ak2 UTSW 17 78863948 missense probably benign 0.00
R7108:Eif2ak2 UTSW 17 78858536 nonsense probably null
R7238:Eif2ak2 UTSW 17 78866331 missense probably benign 0.01
R7830:Eif2ak2 UTSW 17 78866403 missense probably damaging 1.00
R7843:Eif2ak2 UTSW 17 78868774 missense probably benign 0.24
R7845:Eif2ak2 UTSW 17 78863898 missense probably damaging 1.00
R8003:Eif2ak2 UTSW 17 78876223 missense probably damaging 0.99
R8143:Eif2ak2 UTSW 17 78858532 missense probably benign 0.09
Posted On2012-12-06