Incidental Mutation 'R7108:Eif2ak2'
ID 551365
Institutional Source Beutler Lab
Gene Symbol Eif2ak2
Ensembl Gene ENSMUSG00000024079
Gene Name eukaryotic translation initiation factor 2-alpha kinase 2
Synonyms dsRNA-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
MMRRC Submission 045200-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7108 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 78852564-78882573 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 78858536 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 411 (R411*)
Ref Sequence ENSEMBL: ENSMUSP00000024884 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024884]
AlphaFold Q03963
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 null
Transcript: ENSMUST00000024884
AA Change: R411*
SMART Domains Protein: ENSMUSP00000024884
Gene: ENSMUSG00000024079
AA Change: R411*

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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 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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik T C 11: 58,880,924 (GRCm38) S411P probably damaging Het
4930503L19Rik A T 18: 70,468,476 (GRCm38) Y112N probably benign Het
Abcd2 A T 15: 91,191,274 (GRCm38) V112E probably benign Het
Acadm A T 3: 153,925,800 (GRCm38) Y353* probably null Het
Adra2c A G 5: 35,279,998 (GRCm38) D38G probably benign Het
Ankrd10 C T 8: 11,612,624 (GRCm38) G370R probably damaging Het
Arfgef2 T A 2: 166,873,608 (GRCm38) N1324K possibly damaging Het
Atp6v1b2 A G 8: 69,102,501 (GRCm38) T172A probably damaging Het
Bloc1s1 T A 10: 128,922,723 (GRCm38) K22M possibly damaging Het
Brpf3 A G 17: 28,817,125 (GRCm38) T599A probably benign Het
Cacna1e TTCCAGTCTC TTC 1: 154,468,995 (GRCm38) probably null Het
Ccdc186 T C 19: 56,798,760 (GRCm38) D592G probably damaging Het
Cfap161 A T 7: 83,793,310 (GRCm38) D98E possibly damaging Het
Cfi G A 3: 129,875,016 (GRCm38) V564M probably damaging Het
Cilp2 T A 8: 69,881,129 (GRCm38) Q1073L probably damaging Het
Cox6b1 A G 7: 30,623,504 (GRCm38) C40R possibly damaging Het
Cyp3a59 A T 5: 146,096,333 (GRCm38) M172L probably benign Het
Cyth1 T C 11: 118,182,913 (GRCm38) D198G probably damaging Het
Daam2 T C 17: 49,460,674 (GRCm38) D963G probably damaging Het
Ddi2 A T 4: 141,705,937 (GRCm38) D209E probably benign Het
Dnah12 G A 14: 26,778,912 (GRCm38) probably null Het
Dnai7 G A 6: 145,185,865 (GRCm38) Q351* probably null Het
Dpagt1 G T 9: 44,327,021 (GRCm38) probably benign Het
Drc3 T A 11: 60,370,554 (GRCm38) F177Y probably benign Het
Dsg2 T C 18: 20,601,863 (GRCm38) V966A probably damaging Het
E4f1 A G 17: 24,444,578 (GRCm38) V633A probably damaging Het
Frem2 T C 3: 53,653,513 (GRCm38) E1191G probably damaging Het
Fry T A 5: 150,491,090 (GRCm38) C467S Het
Fry T C 5: 150,395,786 (GRCm38) V972A probably damaging Het
Fscn1 T C 5: 142,960,515 (GRCm38) Y23H probably damaging Het
Gm16506 T A 14: 43,724,302 (GRCm38) I163F Het
Gm21103 T C 14: 6,303,774 (GRCm38) Y92C probably damaging Het
Golgb1 A G 16: 36,913,721 (GRCm38) H1151R probably benign Het
Gprc5c T C 11: 114,864,282 (GRCm38) Y262H probably damaging Het
Hc G T 2: 35,039,694 (GRCm38) N245K probably benign Het
Hps6 T A 19: 46,005,490 (GRCm38) L622Q probably damaging Het
Hsd17b1 T C 11: 101,079,209 (GRCm38) Y156H probably damaging Het
Ireb2 T A 9: 54,906,641 (GRCm38) F799L probably damaging Het
Irf1 A G 11: 53,774,412 (GRCm38) D205G probably damaging Het
Kif12 A T 4: 63,171,205 (GRCm38) F103L probably benign Het
Krt12 C T 11: 99,416,052 (GRCm38) V475M unknown Het
Lca5 T A 9: 83,423,169 (GRCm38) T195S probably benign Het
Lrrc17 T C 5: 21,575,339 (GRCm38) V437A possibly damaging Het
Malt1 G T 18: 65,464,051 (GRCm38) D468Y probably damaging Het
Man2b2 C T 5: 36,815,485 (GRCm38) A562T probably benign Het
Mrc1 C T 2: 14,304,146 (GRCm38) Q794* probably null Het
Muc16 T A 9: 18,655,233 (GRCm38) I1997L unknown Het
Muc6 AGGCGCAGAAACCCTGGC AGGC 7: 141,634,450 (GRCm38) probably null Het
Mycbp2 A T 14: 103,122,603 (GRCm38) F4518Y probably damaging Het
Myo5a T A 9: 75,129,992 (GRCm38) I159N probably damaging Het
Nat1 T C 8: 67,491,020 (GRCm38) V19A probably benign Het
Ndst4 A G 3: 125,561,471 (GRCm38) T343A probably damaging Het
Nlrp9b A T 7: 20,045,930 (GRCm38) L839F probably damaging Het
Nxnl1 A G 8: 71,566,554 (GRCm38) I9T probably benign Het
Odr4 T C 1: 150,382,290 (GRCm38) Y198C probably benign Het
Olfr364-ps1 C T 2: 37,146,260 (GRCm38) T16I probably benign Het
Olfr548-ps1 A T 7: 102,541,992 (GRCm38) I19F probably damaging Het
Or2ag12 G A 7: 106,678,048 (GRCm38) A146V probably benign Het
Or2t49 T A 11: 58,502,554 (GRCm38) M7L probably benign Het
Or7a35 C A 10: 79,017,649 (GRCm38) S109* probably null Het
Pou5f2 T C 13: 78,025,265 (GRCm38) S109P possibly damaging Het
Prkcz G A 4: 155,286,793 (GRCm38) Q321* probably null Het
Prr18 G T 17: 8,341,531 (GRCm38) R173L probably damaging Het
Ralgapb A T 2: 158,494,662 (GRCm38) I1407F probably damaging Het
Ralgapb T C 2: 158,492,460 (GRCm38) Y1364H probably damaging Het
Sacs T A 14: 61,211,009 (GRCm38) Y3501* probably null Het
Sall3 G A 18: 80,973,754 (GRCm38) P320S probably benign Het
Scn8a A T 15: 101,039,778 (GRCm38) H1676L probably benign Het
Shmt1 T C 11: 60,798,644 (GRCm38) D178G probably damaging Het
Slmap T C 14: 26,422,521 (GRCm38) K737R probably benign Het
Ssh2 G A 11: 77,454,794 (GRCm38) V1202I probably benign Het
Stard7 A G 2: 127,295,494 (GRCm38) D288G possibly damaging Het
Tek A T 4: 94,853,487 (GRCm38) D827V probably damaging Het
Tfap2e A G 4: 126,720,563 (GRCm38) L276P probably damaging Het
Tns3 T C 11: 8,437,251 (GRCm38) N1312S probably benign Het
Tubd1 T A 11: 86,557,805 (GRCm38) S315T probably damaging Het
Ube2f T A 1: 91,265,219 (GRCm38) C50* probably null Het
Vmn2r109 T C 17: 20,564,744 (GRCm38) I5V probably benign Het
Vmn2r39 T C 7: 9,023,668 (GRCm38) T445A probably damaging Het
Zfp764l1 A G 7: 127,391,523 (GRCm38) S431P probably benign Het
Other mutations in Eif2ak2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00569:Eif2ak2 APN 17 78,869,483 (GRCm38) missense probably benign 0.00
IGL01017:Eif2ak2 APN 17 78,863,858 (GRCm38) missense probably damaging 1.00
IGL01068:Eif2ak2 APN 17 78,865,371 (GRCm38) missense probably damaging 1.00
3-1:Eif2ak2 UTSW 17 78,869,498 (GRCm38) missense probably benign 0.00
R0038:Eif2ak2 UTSW 17 78,863,955 (GRCm38) missense probably benign
R0801:Eif2ak2 UTSW 17 78,866,349 (GRCm38) nonsense probably null
R1702:Eif2ak2 UTSW 17 78,856,634 (GRCm38) missense probably damaging 1.00
R2020:Eif2ak2 UTSW 17 78,863,963 (GRCm38) missense possibly damaging 0.87
R2159:Eif2ak2 UTSW 17 78,874,018 (GRCm38) missense possibly damaging 0.77
R3405:Eif2ak2 UTSW 17 78,858,639 (GRCm38) splice site probably benign
R3406:Eif2ak2 UTSW 17 78,858,639 (GRCm38) splice site probably benign
R4355:Eif2ak2 UTSW 17 78,858,534 (GRCm38) missense probably benign 0.08
R5135:Eif2ak2 UTSW 17 78,866,345 (GRCm38) missense probably damaging 0.96
R5145:Eif2ak2 UTSW 17 78,876,204 (GRCm38) missense possibly damaging 0.60
R5336:Eif2ak2 UTSW 17 78,874,043 (GRCm38) missense probably benign 0.00
R6195:Eif2ak2 UTSW 17 78,871,233 (GRCm38) nonsense probably null
R6233:Eif2ak2 UTSW 17 78,871,233 (GRCm38) nonsense probably null
R6417:Eif2ak2 UTSW 17 78,856,619 (GRCm38) missense probably damaging 1.00
R6737:Eif2ak2 UTSW 17 78,863,948 (GRCm38) missense probably benign 0.00
R7238:Eif2ak2 UTSW 17 78,866,331 (GRCm38) missense probably benign 0.01
R7830:Eif2ak2 UTSW 17 78,866,403 (GRCm38) missense probably damaging 1.00
R7843:Eif2ak2 UTSW 17 78,868,774 (GRCm38) missense probably benign 0.24
R7845:Eif2ak2 UTSW 17 78,863,898 (GRCm38) missense probably damaging 1.00
R8003:Eif2ak2 UTSW 17 78,876,223 (GRCm38) missense probably damaging 0.99
R8143:Eif2ak2 UTSW 17 78,858,532 (GRCm38) missense probably benign 0.09
R9658:Eif2ak2 UTSW 17 78,876,203 (GRCm38) missense probably benign 0.00
R9719:Eif2ak2 UTSW 17 78,855,354 (GRCm38) missense probably damaging 0.96
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-05-15