Incidental Mutation 'IGL03026:Irak2'
ID408188
Institutional Source Australian Phenomics Network (link to record)
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 #IGL03026
Quality Score
Status
Chromosome6
Chromosomal Location113638467-113695026 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 113676651 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 260 (V260E)
Ref Sequence ENSEMBL: ENSMUSP00000086417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059286] [ENSMUST00000089022] [ENSMUST00000089023] [ENSMUST00000204744]
Predicted Effect probably damaging
Transcript: ENSMUST00000059286
AA Change: V321E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000055073
Gene: ENSMUSG00000060477
AA Change: V321E

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: V273E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000086416
Gene: ENSMUSG00000060477
AA Change: V273E

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: V260E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000086417
Gene: ENSMUSG00000060477
AA Change: V260E

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: ENSMUST00000155554
SMART Domains Protein: ENSMUSP00000117755
Gene: ENSMUSG00000060477

DomainStartEndE-ValueType
SCOP:d1b6cb_ 53 96 8e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203466
Predicted Effect probably benign
Transcript: ENSMUST00000204744
SMART Domains Protein: ENSMUSP00000144848
Gene: ENSMUSG00000060477

DomainStartEndE-ValueType
PDB:3MOP|N 2 55 3e-30 PDB
SCOP:d1d2za_ 4 55 9e-13 SMART
Coding Region Coverage
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly A G 11: 100,519,690 V154A possibly damaging Het
Adcy4 T C 14: 55,778,010 Y481C probably damaging Het
Adcy5 T C 16: 35,157,042 V315A probably benign Het
Atf7ip G A 6: 136,605,382 S1130N possibly damaging Het
Ctss A G 3: 95,538,830 D87G probably benign Het
Cwf19l2 A T 9: 3,428,777 K254N probably benign Het
Dnajc10 A G 2: 80,349,303 D727G probably damaging Het
Dsg3 G A 18: 20,536,972 probably null Het
Ehmt1 T C 2: 24,852,734 M478V probably benign Het
Enam A T 5: 88,503,299 N889I probably benign Het
Exo1 G T 1: 175,908,437 *148L probably null Het
Fam133b G T 5: 3,559,646 probably benign Het
Foxj2 G A 6: 122,838,180 A392T probably benign Het
Gbp4 G T 5: 105,120,000 A460E possibly damaging Het
Has3 A T 8: 106,878,610 I483F probably benign Het
Hist1h1b G A 13: 21,779,947 probably benign Het
Kcnj8 T C 6: 142,566,473 probably null Het
Lama5 A G 2: 180,195,967 V936A probably benign Het
Lmo7 C T 14: 101,929,333 probably benign Het
Morc3 T A 16: 93,862,724 probably benign Het
Muc6 T C 7: 141,640,147 probably benign Het
Nkx2-2 T C 2: 147,185,822 Y66C probably damaging Het
Oaz1 G A 10: 80,828,800 probably benign Het
Olfr1392 A T 11: 49,293,458 I46F probably damaging Het
Olfr768 G A 10: 129,093,188 A262V possibly damaging Het
Olfr808 A T 10: 129,768,041 M182L probably benign Het
Pkd2 A T 5: 104,494,887 probably benign Het
Plcb4 A G 2: 135,950,429 probably benign Het
Ralgapa2 C A 2: 146,460,775 probably benign Het
Rfx7 T C 9: 72,619,685 S1386P probably damaging Het
Ric1 T G 19: 29,599,833 W1046G probably benign Het
Rrp12 C A 19: 41,872,997 R957L probably damaging Het
Scn7a T C 2: 66,676,098 I1482M probably damaging Het
Sema3b T C 9: 107,602,063 N236S probably damaging Het
Skint6 T A 4: 112,991,244 probably null Het
Slfn5 T C 11: 82,956,561 Y91H probably benign Het
Sptbn2 T A 19: 4,724,233 probably null Het
Szt2 A G 4: 118,391,849 L546P probably benign Het
Tas1r3 A G 4: 155,861,843 probably benign Het
Trim75 A G 8: 64,983,786 V4A probably benign Het
Usp19 T C 9: 108,493,145 L56P probably damaging Het
Vmn1r181 T G 7: 23,984,575 I155S possibly damaging Het
Vmn2r43 G T 7: 8,255,097 D372E probably benign Het
Vstm2b C A 7: 40,902,521 S99* probably null Het
Wdr11 A G 7: 129,624,336 D735G probably damaging Het
Wee2 T A 6: 40,461,981 M346K probably benign Het
Zap70 A G 1: 36,779,717 K371R possibly damaging Het
Zfp990 A T 4: 145,537,110 H226L possibly damaging Het
Other mutations in Irak2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Irak2 APN 6 113678675 missense probably benign 0.41
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
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
Posted On2016-08-02