Incidental Mutation 'R5194:Irak2'
ID 399953
Institutional Source Beutler Lab
Gene Symbol Irak2
Ensembl Gene ENSMUSG00000060477
Gene Name interleukin-1 receptor-associated kinase 2
Synonyms 6330415L08Rik, IRAK-2
MMRRC Submission 042770-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5194 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 113615428-113671987 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 113667751 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 444 (V444A)
Ref Sequence ENSEMBL: ENSMUSP00000086416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059286] [ENSMUST00000089022] [ENSMUST00000089023]
AlphaFold Q8CFA1
Predicted Effect probably benign
Transcript: ENSMUST00000059286
AA Change: V492A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000055073
Gene: ENSMUSG00000060477
AA Change: V492A

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 benign
Transcript: ENSMUST00000089022
AA Change: V444A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000086416
Gene: ENSMUSG00000060477
AA Change: V444A

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 benign
Transcript: ENSMUST00000089023
SMART Domains Protein: ENSMUSP00000086417
Gene: ENSMUSG00000060477

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 98% (59/60)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700122O11Rik T C 17: 48,348,059 (GRCm39) N82D probably benign Het
Aadacl4fm2 A G 4: 144,281,652 (GRCm39) V380A probably benign Het
Acadm C T 3: 153,638,755 (GRCm39) R206H possibly damaging Het
Acly T A 11: 100,414,372 (GRCm39) Y18F probably benign Het
Acnat2 G T 4: 49,380,452 (GRCm39) Q291K probably benign Het
Agtpbp1 T C 13: 59,648,453 (GRCm39) I456V probably benign Het
Ankrd7 A G 6: 18,868,076 (GRCm39) N114S possibly damaging Het
Arfgef1 A T 1: 10,275,132 (GRCm39) L307I probably benign Het
Arhgef2 A T 3: 88,542,956 (GRCm39) I383F probably damaging Het
Cbs C T 17: 31,843,198 (GRCm39) probably null Het
Cep135 T C 5: 76,763,624 (GRCm39) V538A probably benign Het
Dennd5a T C 7: 109,532,936 (GRCm39) E254G probably damaging Het
Drc7 T C 8: 95,788,345 (GRCm39) V236A probably benign Het
Dtna C T 18: 23,723,302 (GRCm39) Q169* probably null Het
Egfem1 G A 3: 29,411,345 (GRCm39) probably null Het
Eif2ak3 T C 6: 70,835,462 (GRCm39) S130P possibly damaging Het
Ewsr1 T C 11: 5,032,355 (GRCm39) N297S unknown Het
F13a1 T G 13: 37,156,037 (GRCm39) D192A probably damaging Het
Fam120a A G 13: 49,034,411 (GRCm39) V1067A probably benign Het
Gm17490 T C 2: 11,631,062 (GRCm39) Y5C unknown Het
Gm57859 T C 11: 113,579,654 (GRCm39) S350P possibly damaging Het
Gm8587 C T 12: 88,056,556 (GRCm39) noncoding transcript Het
H2-Ab1 C T 17: 34,488,352 (GRCm39) probably benign Het
Hoxd12 T C 2: 74,505,447 (GRCm39) L6P probably damaging Het
Ifi204 C T 1: 173,576,910 (GRCm39) D564N possibly damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lrba A C 3: 86,235,526 (GRCm39) N877H probably damaging Het
Mylk3 T C 8: 86,079,495 (GRCm39) I388V probably benign Het
Myo9b C T 8: 71,801,733 (GRCm39) A1286V probably benign Het
Myt1l A C 12: 29,861,647 (GRCm39) D143A unknown Het
Ngfr T C 11: 95,471,808 (GRCm39) N63S probably benign Het
Or2ag16 A T 7: 106,352,426 (GRCm39) H56Q probably benign Het
Or4c3 T A 2: 89,851,870 (GRCm39) Y180F probably damaging Het
Or51a7 A G 7: 102,615,071 (GRCm39) I255V probably benign Het
Or6c70 C T 10: 129,709,967 (GRCm39) V220I probably benign Het
Or6z6 A G 7: 6,491,519 (GRCm39) L118P probably damaging Het
P2rx7 T C 5: 122,811,858 (GRCm39) S390P probably benign Het
Pcdhga4 A C 18: 37,820,794 (GRCm39) Q781P probably benign Het
Phip G A 9: 82,790,915 (GRCm39) S677F probably benign Het
Ptpdc1 C A 13: 48,740,265 (GRCm39) V389F possibly damaging Het
Rab2a T A 4: 8,604,381 (GRCm39) I161N probably benign Het
Rnf113a2 T A 12: 84,464,111 (GRCm39) M1K probably null Het
Schip1 T C 3: 68,402,205 (GRCm39) V122A probably benign Het
Sdr16c5 C A 4: 4,006,663 (GRCm39) A210S probably benign Het
Sh3bp1 A G 15: 78,787,301 (GRCm39) K83E probably damaging Het
Sipa1l2 T C 8: 126,166,012 (GRCm39) S1541G possibly damaging Het
Slc22a21 T C 11: 53,870,673 (GRCm39) Y4C probably damaging Het
Smco1 C T 16: 32,092,592 (GRCm39) H88Y probably damaging Het
Tll2 T C 19: 41,084,336 (GRCm39) D697G probably damaging Het
Trim34a A G 7: 103,910,200 (GRCm39) N334S possibly damaging Het
Ubqln1 A G 13: 58,346,847 (GRCm39) I64T probably benign Het
Vstm2b T A 7: 40,551,912 (GRCm39) probably null Het
Wdr17 A G 8: 55,140,639 (GRCm39) F238L probably damaging Het
Wiz T C 17: 32,596,822 (GRCm39) probably benign Het
Zfp407 T C 18: 84,579,434 (GRCm39) S560G probably benign Het
Other mutations in Irak2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Irak2 APN 6 113,655,636 (GRCm39) missense probably benign 0.41
IGL03026:Irak2 APN 6 113,653,612 (GRCm39) missense probably damaging 1.00
R0047:Irak2 UTSW 6 113,655,699 (GRCm39) missense probably benign 0.43
R0047:Irak2 UTSW 6 113,649,914 (GRCm39) splice site probably benign
R0658:Irak2 UTSW 6 113,615,525 (GRCm39) missense probably damaging 1.00
R1120:Irak2 UTSW 6 113,652,720 (GRCm39) unclassified probably benign
R2143:Irak2 UTSW 6 113,649,788 (GRCm39) missense probably benign 0.03
R2190:Irak2 UTSW 6 113,663,904 (GRCm39) missense probably damaging 1.00
R2342:Irak2 UTSW 6 113,670,632 (GRCm39) missense probably benign 0.08
R2507:Irak2 UTSW 6 113,624,639 (GRCm39) missense probably damaging 1.00
R3160:Irak2 UTSW 6 113,649,721 (GRCm39) missense probably benign 0.18
R3162:Irak2 UTSW 6 113,649,721 (GRCm39) missense probably benign 0.18
R4231:Irak2 UTSW 6 113,667,817 (GRCm39) missense probably damaging 0.98
R4604:Irak2 UTSW 6 113,649,848 (GRCm39) missense probably damaging 1.00
R4772:Irak2 UTSW 6 113,670,683 (GRCm39) missense probably damaging 1.00
R4940:Irak2 UTSW 6 113,670,691 (GRCm39) missense probably benign 0.41
R5082:Irak2 UTSW 6 113,649,805 (GRCm39) missense probably damaging 1.00
R5118:Irak2 UTSW 6 113,642,772 (GRCm39) missense probably benign 0.00
R5604:Irak2 UTSW 6 113,667,792 (GRCm39) missense possibly damaging 0.91
R5928:Irak2 UTSW 6 113,653,587 (GRCm39) missense probably damaging 1.00
R6479:Irak2 UTSW 6 113,663,902 (GRCm39) missense probably damaging 0.99
R7102:Irak2 UTSW 6 113,663,810 (GRCm39) missense probably damaging 1.00
R7153:Irak2 UTSW 6 113,655,670 (GRCm39) missense probably benign 0.34
R7199:Irak2 UTSW 6 113,650,045 (GRCm39) missense probably damaging 0.99
R7509:Irak2 UTSW 6 113,667,859 (GRCm39) frame shift probably null
R7694:Irak2 UTSW 6 113,667,859 (GRCm39) missense probably damaging 1.00
R7716:Irak2 UTSW 6 113,667,859 (GRCm39) frame shift probably null
R8414:Irak2 UTSW 6 113,663,903 (GRCm39) missense probably benign 0.08
R8750:Irak2 UTSW 6 113,663,783 (GRCm39) missense probably benign 0.01
R8870:Irak2 UTSW 6 113,663,902 (GRCm39) missense probably damaging 0.99
R8959:Irak2 UTSW 6 113,624,702 (GRCm39) missense probably damaging 0.98
R9324:Irak2 UTSW 6 113,615,604 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TTGAAAGGACCGGCATGGAC -3'
(R):5'- ATGTCCCGTGAAGAGTGGAG -3'

Sequencing Primer
(F):5'- ATCCTGACTGAGCATATTAGCC -3'
(R):5'- TGGAGAGGAGGCAGCCC -3'
Posted On 2016-07-06