Mutagenetix > Incidental Mutation

Incidental Mutation 'R0658:Irak2'

218803

Institutional Source

Beutler Lab

Gene Symbol

Irak2

Ensembl Gene

ENSMUSG00000060477

Gene Name

interleukin-1 receptor-associated kinase 2

Synonyms

6330415L08Rik, IRAK-2

MMRRC Submission

038843-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0658 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

113615428-113671987 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113615525 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 6 (Y6C)

Ref Sequence

ENSEMBL: ENSMUSP00000086417 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059286] [ENSMUST00000089022] [ENSMUST00000089023] [ENSMUST00000204744]

AlphaFold

Q8CFA1

Predicted Effect

probably damaging
Transcript: ENSMUST00000059286
AA Change: Y6C

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

SMART Domains

Protein: ENSMUSP00000055073
Gene: ENSMUSG00000060477
AA Change: Y6C

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 damaging
Transcript: ENSMUST00000089022
AA Change: Y6C

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

SMART Domains

Protein: ENSMUSP00000086416
Gene: ENSMUSG00000060477
AA Change: Y6C

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: Y6C

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

SMART Domains

Protein: ENSMUSP00000086417
Gene: ENSMUSG00000060477
AA Change: Y6C

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

noncoding transcript
Transcript: ENSMUST00000203570

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204091

Predicted Effect

probably damaging
Transcript: ENSMUST00000204744
AA Change: Y6C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000144848
Gene: ENSMUSG00000060477
AA Change: Y6C

Domain	Start	End	E-Value	Type
PDB:3MOP\|N	2	55	3e-30	PDB
SCOP:d1d2za_	4	55	9e-13	SMART

Meta Mutation Damage Score

0.3270

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.6%

Validation Efficiency

99% (78/79)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas1	C	T	5: 100,965,827 (GRCm39)		probably null	Het
Acsl3	A	G	1: 78,679,004 (GRCm39)	D520G	probably damaging	Het
Adgrl3	T	C	5: 81,796,560 (GRCm39)	V623A	probably benign	Het
Ak9	G	T	10: 41,223,218 (GRCm39)	V454L	probably damaging	Het
Alpk2	C	A	18: 65,482,558 (GRCm39)	K483N	probably damaging	Het
Arhgef12	T	C	9: 42,893,281 (GRCm39)	Y974C	probably damaging	Het
Armc8	C	T	9: 99,418,211 (GRCm39)		probably benign	Het
Atp2a2	C	T	5: 122,595,696 (GRCm39)		probably benign	Het
Atrn	T	C	2: 130,812,147 (GRCm39)		probably null	Het
Caps2	T	A	10: 112,039,943 (GRCm39)		probably benign	Het
Cep76	A	G	18: 67,756,374 (GRCm39)	S486P	probably damaging	Het
Cep97	C	T	16: 55,735,265 (GRCm39)	R583H	probably benign	Het
Cog7	A	G	7: 121,555,363 (GRCm39)		probably benign	Het
Commd5	T	A	15: 76,784,768 (GRCm39)	V55E	probably damaging	Het
Csmd3	A	T	15: 47,874,543 (GRCm39)	D684E	possibly damaging	Het
Ctxn2	T	C	2: 124,989,376 (GRCm39)	M1T	probably null	Het
Exph5	A	G	9: 53,288,775 (GRCm39)	D1952G	unknown	Het
Fmo2	A	T	1: 162,704,343 (GRCm39)	L521Q	possibly damaging	Het
Fryl	T	A	5: 73,222,702 (GRCm39)	T1960S	probably damaging	Het
G6pd2	T	C	5: 61,967,017 (GRCm39)	L264P	probably damaging	Het
Gne	A	T	4: 44,039,033 (GRCm39)	V647E	possibly damaging	Het
Grb14	G	A	2: 64,745,071 (GRCm39)	Q96*	probably null	Het
Gtf3c1	A	G	7: 125,298,134 (GRCm39)	F146L	probably damaging	Het
Gvin3	C	A	7: 106,202,093 (GRCm39)	V384L	possibly damaging	Het
Kel	T	A	6: 41,679,965 (GRCm39)	N75I	probably damaging	Het
Lgr4	T	A	2: 109,842,132 (GRCm39)	F706I	possibly damaging	Het
Lox	A	T	18: 52,661,955 (GRCm39)	S149R	probably benign	Het
Lrrc66	T	G	5: 73,768,287 (GRCm39)	D218A	probably benign	Het
Luc7l	C	T	17: 26,485,296 (GRCm39)	R99W	probably damaging	Het
Megf10	T	C	18: 57,385,968 (GRCm39)	V327A	probably benign	Het
Mthfd1l	G	T	10: 3,997,976 (GRCm39)		probably null	Het
Myh11	C	A	16: 14,041,883 (GRCm39)	Q720H	probably damaging	Het
Myh8	G	T	11: 67,175,358 (GRCm39)		probably null	Het
Or5b109	A	T	19: 13,212,424 (GRCm39)	D270V	possibly damaging	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Pgf	C	T	12: 85,216,159 (GRCm39)	R153K	probably benign	Het
Pramel12	A	T	4: 143,144,170 (GRCm39)	Q172L	probably damaging	Het
Prdm2	A	G	4: 142,861,835 (GRCm39)	V485A	probably damaging	Het
Rag1	T	C	2: 101,473,028 (GRCm39)	T705A	probably damaging	Het
Rflna	A	C	5: 125,080,774 (GRCm39)	D48A	possibly damaging	Het
Rnf148	A	T	6: 23,654,456 (GRCm39)	I180N	probably damaging	Het
Rtn4	T	A	11: 29,656,475 (GRCm39)	S94T	probably damaging	Het
Scn11a	G	A	9: 119,640,226 (GRCm39)	T223I	probably benign	Het
Scube2	T	A	7: 109,436,327 (GRCm39)		probably benign	Het
Septin14	T	C	5: 129,774,972 (GRCm39)	I68V	probably benign	Het
Sil1	A	T	18: 35,399,910 (GRCm39)	L365Q	possibly damaging	Het
Sirt1	A	G	10: 63,157,515 (GRCm39)		probably benign	Het
Slc9a1	T	C	4: 133,147,810 (GRCm39)		probably benign	Het
Smpdl3a	A	G	10: 57,687,336 (GRCm39)	T355A	probably damaging	Het
Syne2	T	C	12: 76,141,110 (GRCm39)	I6074T	probably damaging	Het
Thbs2	T	A	17: 14,900,587 (GRCm39)	H540L	probably benign	Het
Tsc22d4	T	C	5: 137,766,283 (GRCm39)	S450P	probably benign	Het
Tshr	C	A	12: 91,505,000 (GRCm39)	S54*	probably null	Het
Ubxn4	G	A	1: 128,190,641 (GRCm39)	E256K	probably benign	Het
Uncx	G	T	5: 139,529,942 (GRCm39)	C65F	probably damaging	Het
Vmn1r87	A	T	7: 12,865,756 (GRCm39)	M177K	probably damaging	Het
Vmn2r56	A	T	7: 12,444,235 (GRCm39)	C466S	probably benign	Het
Wnk1	G	A	6: 119,925,466 (GRCm39)	P1831S	probably damaging	Het
Zfp820	T	C	17: 22,037,901 (GRCm39)	S476G	probably benign	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
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
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'- TGTGCTACTGAATGCCACTGGGAG -3'
(R):5'- GCAGCAGCGTTCTACACAGGAATC -3'

Sequencing Primer
(F):5'- AGCTTGCTCGCTTACCCA -3'
(R):5'- TCCCCGGCCTCAGGTAAC -3'

Posted On

2014-08-21