Incidental Mutation 'R4940:Irak2'
ID 382996
Institutional Source Beutler Lab
Gene Symbol Irak2
Ensembl Gene ENSMUSG00000060477
Gene Name interleukin-1 receptor-associated kinase 2
Synonyms 6330415L08Rik, IRAK-2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4940 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 113615428-113671987 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 113670691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 536 (V536I)
Ref Sequence ENSEMBL: ENSMUSP00000086417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059286] [ENSMUST00000089018] [ENSMUST00000089022] [ENSMUST00000089023] [ENSMUST00000113022] [ENSMUST00000204753]
AlphaFold Q8CFA1
Predicted Effect probably benign
Transcript: ENSMUST00000059286
AA Change: V607I

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000055073
Gene: ENSMUSG00000060477
AA Change: V607I

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: ENSMUST00000089018
SMART Domains Protein: ENSMUSP00000086412
Gene: ENSMUSG00000056952

DomainStartEndE-ValueType
low complexity region 63 95 N/A INTRINSIC
low complexity region 237 255 N/A INTRINSIC
low complexity region 382 392 N/A INTRINSIC
Pfam:TatD_DNase 457 721 3.3e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000089022
AA Change: V559I

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000086416
Gene: ENSMUSG00000060477
AA Change: V559I

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
AA Change: V536I

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000086417
Gene: ENSMUSG00000060477
AA Change: V536I

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 probably benign
Transcript: ENSMUST00000113022
SMART Domains Protein: ENSMUSP00000108645
Gene: ENSMUSG00000056952

DomainStartEndE-ValueType
low complexity region 63 95 N/A INTRINSIC
low complexity region 237 255 N/A INTRINSIC
low complexity region 443 453 N/A INTRINSIC
Pfam:TatD_DNase 518 782 3.7e-61 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
Predicted Effect probably benign
Transcript: ENSMUST00000204753
SMART Domains Protein: ENSMUSP00000145308
Gene: ENSMUSG00000056952

DomainStartEndE-ValueType
low complexity region 63 95 N/A INTRINSIC
low complexity region 237 255 N/A INTRINSIC
low complexity region 443 453 N/A INTRINSIC
Pfam:TatD_DNase 518 782 3.7e-61 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik T C 14: 54,828,782 (GRCm39) T240A probably benign Het
Abca15 T C 7: 119,931,917 (GRCm39) Y57H probably benign Het
Adgrf4 A G 17: 42,977,420 (GRCm39) I641T possibly damaging Het
Ankrd11 A G 8: 123,616,560 (GRCm39) Y2410H probably damaging Het
Apbb2 C A 5: 66,609,604 (GRCm39) L14F probably null Het
Arhgdia T C 11: 120,470,061 (GRCm39) D204G probably damaging Het
Armh4 A T 14: 50,010,939 (GRCm39) M256K probably benign Het
Catsperd A T 17: 56,969,736 (GRCm39) Y610F possibly damaging Het
Cblb T A 16: 51,853,466 (GRCm39) D27E probably damaging Het
Ccdc180 A T 4: 45,917,453 (GRCm39) I893F probably damaging Het
Ccdc180 A G 4: 45,917,508 (GRCm39) H911R probably damaging Het
Cdh23 T A 10: 60,143,714 (GRCm39) I2966F probably damaging Het
Cfap299 A G 5: 98,885,495 (GRCm39) H134R possibly damaging Het
Chat G A 14: 32,141,062 (GRCm39) P445L probably damaging Het
Chdh G T 14: 29,754,809 (GRCm39) R273L possibly damaging Het
Clic3 T C 2: 25,347,929 (GRCm39) V72A probably benign Het
Cyp2d12 T A 15: 82,442,251 (GRCm39) D244E probably benign Het
Ddr1 T A 17: 36,001,022 (GRCm39) D241V probably damaging Het
Dock7 T A 4: 98,908,314 (GRCm39) K605N probably damaging Het
Dsg2 T A 18: 20,712,487 (GRCm39) F164I probably damaging Het
Dstyk T A 1: 132,380,844 (GRCm39) N446K probably damaging Het
Epb42 A T 2: 120,864,932 (GRCm39) L53Q probably damaging Het
Extl2 G C 3: 115,820,841 (GRCm39) K229N probably benign Het
Frmd4b T A 6: 97,275,051 (GRCm39) S617C probably damaging Het
Fscb C T 12: 64,520,588 (GRCm39) V293I probably benign Het
Glp2r G T 11: 67,648,419 (GRCm39) Y94* probably null Het
Gm4978 A C 9: 69,358,154 (GRCm39) probably benign Het
Gm6729 A G 10: 86,376,252 (GRCm39) noncoding transcript Het
Gnat2 A C 3: 108,007,932 (GRCm39) N293T probably benign Het
Herpud1 T C 8: 95,117,470 (GRCm39) I142T probably benign Het
Kcnu1 A T 8: 26,387,890 (GRCm39) probably null Het
Kdm4a A G 4: 118,018,951 (GRCm39) S422P probably benign Het
Lair1 T A 7: 4,031,948 (GRCm39) D53V probably benign Het
Lhx1 G T 11: 84,410,735 (GRCm39) Y196* probably null Het
Lrrc37a G A 11: 103,388,438 (GRCm39) T2329I unknown Het
Mag T C 7: 30,608,625 (GRCm39) D163G probably damaging Het
Magi3 A G 3: 103,958,708 (GRCm39) V459A probably damaging Het
Med13 A G 11: 86,178,944 (GRCm39) Y1451H probably damaging Het
Megf8 T A 7: 25,060,131 (GRCm39) C2341S probably damaging Het
Mppe1 A G 18: 67,361,095 (GRCm39) C221R probably damaging Het
Mtus1 T A 8: 41,494,515 (GRCm39) H39L possibly damaging Het
Nkpd1 C T 7: 19,257,498 (GRCm39) Q276* probably null Het
Nkx3-1 G A 14: 69,428,367 (GRCm39) G72S probably benign Het
Nutm2 T C 13: 50,628,909 (GRCm39) C658R possibly damaging Het
Olfm1 T C 2: 28,112,602 (GRCm39) V239A possibly damaging Het
Pcnx1 C T 12: 81,964,567 (GRCm39) H245Y possibly damaging Het
Pgm3 A G 9: 86,441,529 (GRCm39) L356S probably damaging Het
Pik3r4 C G 9: 105,546,193 (GRCm39) H207D probably benign Het
Pkd1l1 T C 11: 8,794,585 (GRCm39) T1859A probably benign Het
Pon3 A T 6: 5,221,625 (GRCm39) V335E possibly damaging Het
Ppp4r3b A G 11: 29,161,740 (GRCm39) T705A probably benign Het
Prmt7 T C 8: 106,963,910 (GRCm39) V268A probably benign Het
Psd C T 19: 46,310,856 (GRCm39) G398R probably damaging Het
Pygl A G 12: 70,253,155 (GRCm39) V188A probably damaging Het
Rnf13 T A 3: 57,703,627 (GRCm39) N110K probably damaging Het
Rnf170 C T 8: 26,615,939 (GRCm39) Q77* probably null Het
Rrp8 A T 7: 105,383,284 (GRCm39) Y327* probably null Het
Ruvbl2 T C 7: 45,074,150 (GRCm39) D228G probably damaging Het
Scgn T A 13: 24,173,807 (GRCm39) T35S probably benign Het
Scyl3 C T 1: 163,762,316 (GRCm39) P74S probably damaging Het
Sec61b T G 4: 47,483,074 (GRCm39) S123A probably benign Het
Sertad2 T C 11: 20,597,899 (GRCm39) S32P possibly damaging Het
Slc23a3 T C 1: 75,110,447 (GRCm39) probably null Het
Sult2a2 T G 7: 13,472,223 (GRCm39) V140G probably benign Het
Tbc1d4 A T 14: 101,744,667 (GRCm39) S320T probably benign Het
Trabd2b T C 4: 114,266,141 (GRCm39) Y52H probably damaging Het
Traf2 T C 2: 25,420,300 (GRCm39) E183G probably null Het
Trip10 G T 17: 57,570,017 (GRCm39) V561F possibly damaging Het
Ttc7 G T 17: 87,614,386 (GRCm39) V184F probably benign Het
Ubc A G 5: 125,463,293 (GRCm39) V678A probably benign Het
Unk A G 11: 115,944,491 (GRCm39) E414G possibly damaging Het
Usp42 T C 5: 143,705,517 (GRCm39) N365D probably damaging Het
Zbtb26 A T 2: 37,326,781 (GRCm39) I85K probably damaging Het
Zfhx2 A T 14: 55,303,891 (GRCm39) H1364Q possibly damaging 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
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
R5194:Irak2 UTSW 6 113,667,751 (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'- AACGGCATAAGCTATGACATGC -3'
(R):5'- ACTCTGATGAAGCCATGTTTCC -3'

Sequencing Primer
(F):5'- CGGCATAAGCTATGACATGCTACTTG -3'
(R):5'- GATGAAGCCATGTTTCCTTCTG -3'
Posted On 2016-04-27