Mutagenetix > Incidental Mutation

Incidental Mutation 'R4772:Irak2'

367603

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 #

R4772 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113615428-113671987 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 113670683 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 533 (E533V)

Ref Sequence

ENSEMBL: ENSMUSP00000086417 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059286] [ENSMUST00000089018] [ENSMUST00000089022] [ENSMUST00000089023] [ENSMUST00000113022] [ENSMUST00000204753]

AlphaFold

Q8CFA1

Predicted Effect

probably damaging
Transcript: ENSMUST00000059286
AA Change: E604V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000055073
Gene: ENSMUSG00000060477
AA Change: E604V

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000089022
AA Change: E556V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000086416
Gene: ENSMUSG00000060477
AA Change: E556V

Domain	Start	End	E-Value	Type
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: E533V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000086417
Gene: ENSMUSG00000060477
AA Change: E533V

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

probably benign
Transcript: ENSMUST00000204753

SMART Domains

Protein: ENSMUSP00000145308
Gene: ENSMUSG00000056952

Domain	Start	End	E-Value	Type
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: ENSMUST00000203381

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204352

Meta Mutation Damage Score

0.2028

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

95% (74/78)

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,265,339 (GRCm39)		probably null	Het
Adamts19	A	G	18: 58,970,848 (GRCm39)	Q144R	possibly damaging	Het
Adgrb3	C	A	1: 25,570,956 (GRCm39)	C507F	probably damaging	Het
Atg9b	T	C	5: 24,590,237 (GRCm39)	*923W	probably null	Het
Atp13a4	T	C	16: 29,239,653 (GRCm39)		probably benign	Het
Baz2b	G	T	2: 59,788,795 (GRCm39)	R697S	probably damaging	Het
Bicdl1	A	G	5: 115,799,537 (GRCm39)	I184T	probably benign	Het
Bpifb4	C	T	2: 153,784,903 (GRCm39)	L204F	possibly damaging	Het
Cep120	C	T	18: 53,851,561 (GRCm39)	R577Q	probably damaging	Het
Cplx4	T	C	18: 66,103,048 (GRCm39)	E24G	possibly damaging	Het
Dcxr	T	C	11: 120,616,923 (GRCm39)	T147A	probably benign	Het
Dnajc10	C	A	2: 80,170,870 (GRCm39)	H454N	probably damaging	Het
Dsp	G	T	13: 38,351,504 (GRCm39)	G108*	probably null	Het
Entpd6	T	A	2: 150,609,014 (GRCm39)	I366K	probably damaging	Het
Fam111a	A	G	19: 12,565,057 (GRCm39)	K269E	probably benign	Het
Grid2ip	T	G	5: 143,361,455 (GRCm39)	V222G	possibly damaging	Het
Hmcn2	T	G	2: 31,335,326 (GRCm39)	V4421G	probably benign	Het
Ifi207	T	C	1: 173,555,253 (GRCm39)	T817A	probably damaging	Het
Katnip	A	G	7: 125,464,523 (GRCm39)	S1297G	probably damaging	Het
Kbtbd6	T	C	14: 79,689,596 (GRCm39)	F97S	probably damaging	Het
Kctd14	A	T	7: 97,106,883 (GRCm39)	E99V	probably damaging	Het
Klhl10	A	T	11: 100,338,557 (GRCm39)	Y432F	probably benign	Het
Lrrc49	T	C	9: 60,592,335 (GRCm39)	N53S	possibly damaging	Het
Mief2	T	A	11: 60,621,288 (GRCm39)		probably benign	Het
Mog	A	T	17: 37,334,049 (GRCm39)	S15T	unknown	Het
Mpi	T	C	9: 57,452,181 (GRCm39)	D365G	probably damaging	Het
Mpp7	A	G	18: 7,379,983 (GRCm39)		probably null	Het
Nes	A	G	3: 87,883,486 (GRCm39)	T582A	probably benign	Het
Nlrp14	A	G	7: 106,780,393 (GRCm39)	D5G	probably benign	Het
Nr1i3	C	T	1: 171,044,719 (GRCm39)	T218I	probably damaging	Het
Nup43	C	T	10: 7,554,433 (GRCm39)	R339*	probably null	Het
Nup58	T	A	14: 60,457,471 (GRCm39)	R577S	probably benign	Het
Olfr908	C	T	9: 38,427,897 (GRCm39)		probably benign	Het
Or4l15	AAATTTGAA	AAA	14: 50,198,452 (GRCm39)		probably benign	Het
Or52n4b	T	A	7: 108,144,092 (GRCm39)	M120K	probably damaging	Het
Or5d35	T	A	2: 87,855,207 (GRCm39)	I47K	probably damaging	Het
Or6c38	A	T	10: 128,929,537 (GRCm39)	V102D	possibly damaging	Het
Or9g20	G	A	2: 85,630,338 (GRCm39)	S92F	probably damaging	Het
Orc1	T	C	4: 108,436,765 (GRCm39)		probably benign	Het
Pax6	C	A	2: 105,526,847 (GRCm39)	P251Q	probably benign	Het
Phactr3	C	T	2: 177,925,729 (GRCm39)	R330W	probably damaging	Het
Phldb1	G	A	9: 44,622,324 (GRCm39)	R81W	probably damaging	Het
Pip5k1c	C	T	10: 81,151,774 (GRCm39)	P656L	probably benign	Het
Pkn3	T	G	2: 29,974,692 (GRCm39)		probably null	Het
Plcb2	T	A	2: 118,543,615 (GRCm39)	H752L	probably benign	Het
Plch1	G	A	3: 63,660,746 (GRCm39)	T291M	probably damaging	Het
Plekhg1	A	T	10: 3,823,127 (GRCm39)	M32L	probably benign	Het
Plekhg1	A	T	10: 3,823,130 (GRCm39)	T33S	probably damaging	Het
Plk4	A	G	3: 40,759,625 (GRCm39)	T174A	probably damaging	Het
Ppip5k2	C	A	1: 97,648,792 (GRCm39)		probably benign	Het
Prl2a1	G	A	13: 27,988,961 (GRCm39)	V29M	probably benign	Het
R3hcc1l	T	C	19: 42,571,996 (GRCm39)		probably benign	Het
Rasa3	C	T	8: 13,648,289 (GRCm39)	G125D	probably damaging	Het
Sema3f	A	T	9: 107,566,919 (GRCm39)	Y136*	probably null	Het
Slc13a5	T	A	11: 72,141,672 (GRCm39)		probably null	Het
Slc16a1	T	C	3: 104,560,880 (GRCm39)	V395A	possibly damaging	Het
Sparcl1	C	T	5: 104,236,356 (GRCm39)	A466T	probably benign	Het
Srrm1	G	A	4: 135,069,690 (GRCm39)		probably benign	Het
Styxl1	G	A	5: 135,797,755 (GRCm39)	R50*	probably null	Het
Tex264	T	A	9: 106,550,901 (GRCm39)	I99F	possibly damaging	Het
Tgtp2	T	C	11: 48,949,811 (GRCm39)	T254A	probably damaging	Het
Tmem245	A	C	4: 56,937,989 (GRCm39)		probably null	Het
Tnik	A	T	3: 28,661,359 (GRCm39)	T587S	probably benign	Het
Tpr	T	G	1: 150,288,864 (GRCm39)	S648A	possibly damaging	Het
Ttn	T	C	2: 76,596,313 (GRCm39)	E18454G	probably damaging	Het
Utp20	A	C	10: 88,645,797 (GRCm39)	H527Q	probably benign	Het
Vmn1r1	A	T	1: 181,985,111 (GRCm39)	S185T	probably benign	Het
Vps54	C	T	11: 21,262,952 (GRCm39)	H680Y	probably damaging	Het
Vwa5b2	A	G	16: 20,419,553 (GRCm39)		probably null	Het
Wscd1	T	C	11: 71,662,802 (GRCm39)		probably null	Het
Zbtb41	C	T	1: 139,375,152 (GRCm39)	P871S	probably damaging	Het
Zcchc4	T	C	5: 52,953,549 (GRCm39)	L186P	possibly damaging	Het
Zdhhc13	A	G	7: 48,449,621 (GRCm39)	Y73C	probably benign	Het
Zfp12	A	G	5: 143,225,755 (GRCm39)	E21G	probably damaging	Het

Other mutations in Irak2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- CGGCATAAGCTATGACATGCTAC -3'
(R):5'- TCGACTCTGATGAAGCCATG -3'

Sequencing Primer
(F):5'- ACATGCTACTTGTATTTGGGCC -3'
(R):5'- GACTCTGATGAAGCCATGTTTCC -3'

Posted On

2015-12-29