Incidental Mutation 'R4940:Irak2'
ID382996
Institutional Source Beutler Lab
Gene Symbol Irak2
Ensembl Gene ENSMUSG00000060477
Gene Nameinterleukin-1 receptor-associated kinase 2
Synonyms6330415L08Rik, IRAK-2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R4940 (G1)
Quality Score225
Status Not validated
Chromosome6
Chromosomal Location113638467-113695026 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 113693730 bp
ZygosityHeterozygous
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]
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
1700007G11Rik A G 5: 98,737,636 H134R possibly damaging Het
3632451O06Rik A T 14: 49,773,482 M256K probably benign Het
4931414P19Rik T C 14: 54,591,325 T240A probably benign Het
Abca15 T C 7: 120,332,694 Y57H probably benign Het
Adgrf4 A G 17: 42,666,529 I641T possibly damaging Het
Ankrd11 A G 8: 122,889,821 Y2410H probably damaging Het
Apbb2 C A 5: 66,452,261 L14F probably null Het
Arhgdia T C 11: 120,579,235 D204G probably damaging Het
Catsperd A T 17: 56,662,736 Y610F possibly damaging Het
Cblb T A 16: 52,033,103 D27E probably damaging Het
Ccdc180 A T 4: 45,917,453 I893F probably damaging Het
Ccdc180 A G 4: 45,917,508 H911R probably damaging Het
Cdh23 T A 10: 60,307,935 I2966F probably damaging Het
Chat G A 14: 32,419,105 P445L probably damaging Het
Chdh G T 14: 30,032,852 R273L possibly damaging Het
Clic3 T C 2: 25,457,917 V72A probably benign Het
Cyp2d12 T A 15: 82,558,050 D244E probably benign Het
Ddr1 T A 17: 35,690,130 D241V probably damaging Het
Dock7 T A 4: 99,020,077 K605N probably damaging Het
Dsg2 T A 18: 20,579,430 F164I probably damaging Het
Dstyk T A 1: 132,453,106 N446K probably damaging Het
Epb42 A T 2: 121,034,451 L53Q probably damaging Het
Extl2 G C 3: 116,027,192 K229N probably benign Het
Frmd4b T A 6: 97,298,090 S617C probably damaging Het
Fscb C T 12: 64,473,814 V293I probably benign Het
Glp2r G T 11: 67,757,593 Y94* probably null Het
Gm4978 A C 9: 69,450,872 probably benign Het
Gm6729 A G 10: 86,540,388 noncoding transcript Het
Gnat2 A C 3: 108,100,616 N293T probably benign Het
Herpud1 T C 8: 94,390,842 I142T probably benign Het
Kcnu1 A T 8: 25,897,862 probably null Het
Kdm4a A G 4: 118,161,754 S422P probably benign Het
Lair1 T A 7: 4,028,949 D53V probably benign Het
Lhx1 G T 11: 84,519,909 Y196* probably null Het
Lrrc37a G A 11: 103,497,612 T2329I unknown Het
Mag T C 7: 30,909,200 D163G probably damaging Het
Magi3 A G 3: 104,051,392 V459A probably damaging Het
Med13 A G 11: 86,288,118 Y1451H probably damaging Het
Megf8 T A 7: 25,360,706 C2341S probably damaging Het
Mppe1 A G 18: 67,228,024 C221R probably damaging Het
Mtus1 T A 8: 41,041,478 H39L possibly damaging Het
Nkpd1 C T 7: 19,523,573 Q276* probably null Het
Nkx3-1 G A 14: 69,190,918 G72S probably benign Het
Nutm2 T C 13: 50,474,873 C658R possibly damaging Het
Olfm1 T C 2: 28,222,590 V239A possibly damaging Het
Pcnx C T 12: 81,917,793 H245Y possibly damaging Het
Pgm3 A G 9: 86,559,476 L356S probably damaging Het
Pik3r4 C G 9: 105,668,994 H207D probably benign Het
Pkd1l1 T C 11: 8,844,585 T1859A probably benign Het
Pon3 A T 6: 5,221,625 V335E possibly damaging Het
Ppp4r3b A G 11: 29,211,740 T705A probably benign Het
Prmt7 T C 8: 106,237,278 V268A probably benign Het
Psd C T 19: 46,322,417 G398R probably damaging Het
Pygl A G 12: 70,206,381 V188A probably damaging Het
Rnf13 T A 3: 57,796,206 N110K probably damaging Het
Rnf170 C T 8: 26,125,911 Q77* probably null Het
Rrp8 A T 7: 105,734,077 Y327* probably null Het
Ruvbl2 T C 7: 45,424,726 D228G probably damaging Het
Scgn T A 13: 23,989,824 T35S probably benign Het
Scyl3 C T 1: 163,934,747 P74S probably damaging Het
Sec61b T G 4: 47,483,074 S123A probably benign Het
Sertad2 T C 11: 20,647,899 S32P possibly damaging Het
Slc23a3 T C 1: 75,133,803 probably null Het
Sult2a2 T G 7: 13,738,298 V140G probably benign Het
Tbc1d4 A T 14: 101,507,231 S320T probably benign Het
Trabd2b T C 4: 114,408,944 Y52H probably damaging Het
Traf2 T C 2: 25,530,288 E183G probably null Het
Trip10 G T 17: 57,263,017 V561F possibly damaging Het
Ttc7 G T 17: 87,306,958 V184F probably benign Het
Ubc A G 5: 125,386,229 V678A probably benign Het
Unk A G 11: 116,053,665 E414G possibly damaging Het
Usp42 T C 5: 143,719,762 N365D probably damaging Het
Zbtb26 A T 2: 37,436,769 I85K probably damaging Het
Zfhx2 A T 14: 55,066,434 H1364Q possibly damaging 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
R4231:Irak2 UTSW 6 113690856 missense probably damaging 0.98
R4604:Irak2 UTSW 6 113672887 missense probably damaging 1.00
R4772:Irak2 UTSW 6 113693722 missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- AACGGCATAAGCTATGACATGC -3'
(R):5'- ACTCTGATGAAGCCATGTTTCC -3'

Sequencing Primer
(F):5'- CGGCATAAGCTATGACATGCTACTTG -3'
(R):5'- GATGAAGCCATGTTTCCTTCTG -3'
Posted On2016-04-27