Incidental Mutation 'R4231:Irak2'
ID 320843
Institutional Source Beutler Lab
Gene Symbol Irak2
Ensembl Gene ENSMUSG00000060477
Gene Name interleukin-1 receptor-associated kinase 2
Synonyms 6330415L08Rik, IRAK-2
MMRRC Submission 041050-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4231 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 113638467-113695026 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 113690856 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 466 (E466G)
Ref Sequence ENSEMBL: ENSMUSP00000086416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059286] [ENSMUST00000089022] [ENSMUST00000089023]
AlphaFold Q8CFA1
Predicted Effect possibly damaging
Transcript: ENSMUST00000059286
AA Change: E514G

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000055073
Gene: ENSMUSG00000060477
AA Change: E514G

DomainStartEndE-ValueType
Pfam:Death 14 94 4.8e-16 PFAM
Pfam:Pkinase 208 473 4.8e-28 PFAM
Pfam:Pkinase_Tyr 208 482 1.6e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000089022
AA Change: E466G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000086416
Gene: ENSMUSG00000060477
AA Change: E466G

DomainStartEndE-ValueType
Pfam:Death 14 93 3.9e-16 PFAM
Pfam:Pkinase 160 425 1.3e-30 PFAM
Pfam:Pkinase_Tyr 160 436 1e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000089023
AA Change: E443G

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000086417
Gene: ENSMUSG00000060477
AA Change: E443G

DomainStartEndE-ValueType
PDB:3MOP|N 2 35 3e-13 PDB
Pfam:Pkinase 147 412 1.2e-30 PFAM
Pfam:Pkinase_Tyr 147 419 9.8e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000113024
SMART Domains Protein: ENSMUSP00000108647
Gene: ENSMUSG00000060477

DomainStartEndE-ValueType
Pfam:Pkinase 65 330 1.4e-30 PFAM
Pfam:Pkinase_Tyr 65 342 1.1e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143948
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203381
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204352
Meta Mutation Damage Score 0.1155 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 99% (75/76)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] IRAK2 encodes the interleukin-1 receptor-associated kinase 2, one of two putative serine/threonine kinases that become associated with the interleukin-1 receptor (IL1R) upon stimulation. IRAK2 is reported to participate in the IL1-induced upregulation of NF-kappaB. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased susceptibility to endotoxin shock. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik C T X: 70,394,529 A53T probably benign Het
4932438A13Rik C T 3: 36,920,236 T663I probably benign Het
Ajuba T C 14: 54,569,526 R490G probably damaging Het
Akap6 A T 12: 53,141,038 D1745V probably damaging Het
Aldh5a1 C T 13: 24,911,653 G494R probably damaging Het
Ankar T C 1: 72,658,542 D1034G probably benign Het
Aox3 T A 1: 58,114,885 N23K probably benign Het
Arhgef18 T C 8: 3,450,317 I541T possibly damaging Het
Atg14 T C 14: 47,551,345 K184E probably benign Het
Cacnb2 A G 2: 14,981,440 K343E probably damaging Het
Casp8 T C 1: 58,844,770 V432A probably damaging Het
Cd93 A T 2: 148,442,960 H155Q probably benign Het
Cox6b2 T C 7: 4,752,835 M1V probably null Het
Crat T C 2: 30,413,011 E88G possibly damaging Het
Ddx1 C T 12: 13,223,857 V590I possibly damaging Het
Dip2a G A 10: 76,319,470 P94S probably damaging Het
Dtx3 A G 10: 127,193,189 I60T possibly damaging Het
Fam196b A T 11: 34,403,143 E395V probably benign Het
Filip1l T C 16: 57,506,768 S54P probably benign Het
Gm12887 A T 4: 121,622,102 M1K probably null Het
Gm26678 T C 3: 54,633,083 noncoding transcript Het
Impg1 A G 9: 80,345,329 L523P probably damaging Het
Ip6k2 G A 9: 108,805,648 R319Q probably benign Het
Irgm2 C T 11: 58,219,478 probably benign Het
Jak3 T A 8: 71,685,545 V880D probably damaging Het
Jmy G T 13: 93,498,925 P128T probably benign Het
Kif20a A G 18: 34,632,038 N775S probably benign Het
Kremen1 G A 11: 5,243,881 Q50* probably null Het
Lrrc71 A G 3: 87,740,991 I438T probably benign Het
Map3k1 T C 13: 111,768,494 T374A probably benign Het
Med12l T G 3: 59,257,223 probably null Het
Mrps30 T C 13: 118,386,840 D132G probably damaging Het
Mta1 T C 12: 113,135,827 M603T possibly damaging Het
Myo5a A G 9: 75,189,997 N1319S possibly damaging Het
Nalcn T A 14: 123,599,913 Q13L probably benign Het
Nbas A G 12: 13,393,343 N1133S probably damaging Het
Nsun2 A G 13: 69,619,541 N205D probably damaging Het
Nxpe4 A T 9: 48,398,837 T467S probably damaging Het
Olfr1293-ps C T 2: 111,528,201 R314C probably damaging Het
Olfr53 T C 7: 140,652,740 Y254H probably damaging Het
Olfr849 T A 9: 19,441,590 L226I probably damaging Het
Pam A G 1: 97,884,124 probably null Het
Pcdh7 G A 5: 57,719,289 G62D possibly damaging Het
Plxna2 C T 1: 194,644,454 T232I probably damaging Het
Prkar1b A G 5: 139,108,621 S71P probably benign Het
Ptprq A T 10: 107,686,283 Y602* probably null Het
Rfx4 A T 10: 84,814,694 M84L probably benign Het
Rfx7 A T 9: 72,619,390 E1287D possibly damaging Het
Rin2 C T 2: 145,860,446 T354I probably benign Het
Rnf216 A T 5: 143,093,090 S35T probably damaging Het
Rps6kc1 A G 1: 190,808,900 V402A probably damaging Het
Rufy4 T C 1: 74,147,663 C537R probably damaging Het
Sart3 A G 5: 113,771,418 M73T probably benign Het
Scn10a G T 9: 119,631,544 T1088K probably damaging Het
Senp2 T C 16: 22,011,554 probably null Het
Setd7 T C 3: 51,542,730 N92D probably benign Het
Sipa1 A T 19: 5,654,089 L735Q probably damaging Het
Skint11 C A 4: 114,244,659 Q99K probably benign Het
Slitrk6 A T 14: 110,751,388 S296T probably benign Het
Spc24 T C 9: 21,756,202 probably null Het
Tex15 T C 8: 33,572,137 S806P probably damaging Het
Tgm3 A T 2: 130,044,589 K577* probably null Het
Wscd2 A G 5: 113,560,984 D200G probably benign Het
Xpo6 T C 7: 126,174,182 T24A possibly damaging Het
Zfhx2 A G 14: 55,073,534 C568R possibly damaging Het
Zfp599 T A 9: 22,249,745 K375* probably null Het
Other mutations in Irak2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Irak2 APN 6 113678675 missense probably benign 0.41
IGL03026:Irak2 APN 6 113676651 missense probably damaging 1.00
R0047:Irak2 UTSW 6 113672953 splice site probably benign
R0047:Irak2 UTSW 6 113678738 missense probably benign 0.43
R0658:Irak2 UTSW 6 113638564 missense probably damaging 1.00
R1120:Irak2 UTSW 6 113675759 unclassified probably benign
R2143:Irak2 UTSW 6 113672827 missense probably benign 0.03
R2190:Irak2 UTSW 6 113686943 missense probably damaging 1.00
R2342:Irak2 UTSW 6 113693671 missense probably benign 0.08
R2507:Irak2 UTSW 6 113647678 missense probably damaging 1.00
R3160:Irak2 UTSW 6 113672760 missense probably benign 0.18
R3162:Irak2 UTSW 6 113672760 missense probably benign 0.18
R4604:Irak2 UTSW 6 113672887 missense probably damaging 1.00
R4772:Irak2 UTSW 6 113693722 missense probably damaging 1.00
R4940:Irak2 UTSW 6 113693730 missense probably benign 0.41
R5082:Irak2 UTSW 6 113672844 missense probably damaging 1.00
R5118:Irak2 UTSW 6 113665811 missense probably benign 0.00
R5194:Irak2 UTSW 6 113690790 missense probably benign 0.00
R5604:Irak2 UTSW 6 113690831 missense possibly damaging 0.91
R5928:Irak2 UTSW 6 113676626 missense probably damaging 1.00
R6479:Irak2 UTSW 6 113686941 missense probably damaging 0.99
R7102:Irak2 UTSW 6 113686849 missense probably damaging 1.00
R7153:Irak2 UTSW 6 113678709 missense probably benign 0.34
R7199:Irak2 UTSW 6 113673084 missense probably damaging 0.99
R7509:Irak2 UTSW 6 113690898 frame shift probably null
R7694:Irak2 UTSW 6 113690898 missense probably damaging 1.00
R7716:Irak2 UTSW 6 113690898 frame shift probably null
R8414:Irak2 UTSW 6 113686942 missense probably benign 0.08
R8750:Irak2 UTSW 6 113686822 missense probably benign 0.01
R8870:Irak2 UTSW 6 113686941 missense probably damaging 0.99
R8959:Irak2 UTSW 6 113647741 missense probably damaging 0.98
R9324:Irak2 UTSW 6 113638643 critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TTGAAAGGACCGGCATGGAC -3'
(R):5'- GAGTCAGCCTCCTGTCTCC -3'

Sequencing Primer
(F):5'- GTCAAAACCTGTCTGCAGTG -3'
(R):5'- TCCTGTCTCCCACTGGTG -3'
Posted On 2015-06-12