Mutagenetix > Incidental Mutation

Incidental Mutation 'R7199:Irak2'

560160

Institutional Source

Beutler Lab

Gene Symbol

Irak2

Ensembl Gene

ENSMUSG00000060477

Gene Name

interleukin-1 receptor-associated kinase 2

Synonyms

6330415L08Rik, IRAK-2

MMRRC Submission

045277-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7199 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113615428-113671987 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113650045 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 260 (L260P)

Ref Sequence

ENSEMBL: ENSMUSP00000055073 (fasta)

Gene Model

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

AlphaFold

Q8CFA1

Predicted Effect

probably damaging
Transcript: ENSMUST00000059286
AA Change: L260P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000055073
Gene: ENSMUSG00000060477
AA Change: L260P

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: L212P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000086416
Gene: ENSMUSG00000060477
AA Change: L212P

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: L199P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000086417
Gene: ENSMUSG00000060477
AA Change: L199P

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: ENSMUST00000204744

SMART Domains

Protein: ENSMUSP00000144848
Gene: ENSMUSG00000060477

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	A	G	16: 88,555,902 (GRCm39)	T39A	probably damaging	Het
Abca3	G	A	17: 24,596,681 (GRCm39)	G378D	probably damaging	Het
Abtb2	T	C	2: 103,397,565 (GRCm39)	V165A	possibly damaging	Het
Ache	A	G	5: 137,288,504 (GRCm39)	E70G	probably damaging	Het
Adamtsl4	T	C	3: 95,588,119 (GRCm39)	T623A	probably benign	Het
Ahdc1	G	A	4: 132,791,935 (GRCm39)	V1059I	probably benign	Het
Ajuba	G	A	14: 54,810,915 (GRCm39)	Q357*	probably null	Het
Ano7	A	T	1: 93,330,700 (GRCm39)	D54V		Het
Apob	A	T	12: 8,055,072 (GRCm39)	D1357V	probably damaging	Het
Atad2b	T	A	12: 5,067,992 (GRCm39)	Y997N	probably damaging	Het
Bhlhe22	C	A	3: 18,110,006 (GRCm39)	T352K	probably damaging	Het
Bsn	T	C	9: 107,992,533 (GRCm39)	E1073G	probably damaging	Het
Bzw2	G	A	12: 36,180,054 (GRCm39)	R58*	probably null	Het
C7	G	T	15: 5,023,725 (GRCm39)	S694R	probably benign	Het
Cbr2	T	A	11: 120,621,087 (GRCm39)	H170L	probably benign	Het
Cdcp3	G	A	7: 130,837,641 (GRCm39)	W512*	probably null	Het
Cgas	C	A	9: 78,340,315 (GRCm39)	K472N	probably benign	Het
Ckap2l	T	C	2: 129,126,975 (GRCm39)	N401S	probably benign	Het
Cldn1	A	G	16: 26,190,346 (GRCm39)	F11L	probably benign	Het
Cmtr1	A	G	17: 29,895,174 (GRCm39)	T118A	probably benign	Het
Cog6	T	C	3: 52,890,610 (GRCm39)	E610G	probably benign	Het
Col3a1	G	T	1: 45,371,301 (GRCm39)	A451S	probably null	Het
Cr1l	T	A	1: 194,799,878 (GRCm39)	R265S	probably benign	Het
Dapk1	T	C	13: 60,902,024 (GRCm39)	I951T	probably benign	Het
Dnah9	T	C	11: 66,009,770 (GRCm39)	N706D	probably benign	Het
Dpysl5	A	T	5: 30,940,539 (GRCm39)	T239S	probably benign	Het
Ect2l	T	A	10: 18,004,894 (GRCm39)	Y913F	probably benign	Het
Elf5	C	A	2: 103,269,641 (GRCm39)	A74D	possibly damaging	Het
Erap1	T	C	13: 74,814,258 (GRCm39)	V399A	probably benign	Het
Ercc4	A	G	16: 12,965,657 (GRCm39)	D763G	probably damaging	Het
Fam222b	T	A	11: 78,045,683 (GRCm39)	C415S	possibly damaging	Het
Fat4	A	C	3: 39,031,511 (GRCm39)	N2432T	probably damaging	Het
Fbn2	G	T	18: 58,186,833 (GRCm39)	C1689*	probably null	Het
Frrs1l	T	A	4: 56,972,282 (GRCm39)	T140S	probably damaging	Het
Gm5141	A	T	13: 62,924,877 (GRCm39)	H10Q	possibly damaging	Het
Inafm1	A	T	7: 16,007,079 (GRCm39)	L46Q	probably damaging	Het
Kat2b	T	C	17: 53,977,706 (GRCm39)	L751P	probably damaging	Het
Kcnh1	T	A	1: 192,019,913 (GRCm39)	I413N	probably benign	Het
Kirrel1	T	C	3: 86,990,695 (GRCm39)	D709G	probably benign	Het
Lama4	T	C	10: 38,956,536 (GRCm39)	V1153A	possibly damaging	Het
Lipg	A	T	18: 75,088,655 (GRCm39)	F98L	probably benign	Het
Lman1	T	C	18: 66,127,936 (GRCm39)	E236G	probably damaging	Het
Lrp1	T	A	10: 127,409,325 (GRCm39)	D1598V	probably damaging	Het
Lrrc71	T	A	3: 87,650,384 (GRCm39)	N230Y	probably damaging	Het
Maneal	T	C	4: 124,750,983 (GRCm39)	S258G	possibly damaging	Het
Marchf10	T	A	11: 105,281,532 (GRCm39)	E251V	probably damaging	Het
Mpdz	A	G	4: 81,215,570 (GRCm39)	I1484T	probably damaging	Het
Mtcl1	T	A	17: 66,647,534 (GRCm39)	N1882I	probably benign	Het
Neb	G	A	2: 52,110,212 (GRCm39)	A212V	probably benign	Het
Obscn	G	A	11: 58,903,672 (GRCm39)	S7434L	probably benign	Het
Or14j8	A	C	17: 38,263,048 (GRCm39)	I289S	probably damaging	Het
Or1ad8	T	A	11: 50,898,223 (GRCm39)	C141*	probably null	Het
Or1j12	A	T	2: 36,342,872 (GRCm39)	I92F	probably damaging	Het
Or4k47	T	C	2: 111,451,538 (GRCm39)	M294V	probably benign	Het
Or8g2b	A	G	9: 39,750,753 (GRCm39)	M8V	probably benign	Het
Orc6	T	C	8: 86,029,590 (GRCm39)		probably null	Het
Otogl	T	G	10: 107,710,394 (GRCm39)	E565A	possibly damaging	Het
Papss1	A	G	3: 131,290,899 (GRCm39)	Q214R	probably benign	Het
Pck2	G	A	14: 55,786,169 (GRCm39)	V653M	probably benign	Het
Plxna4	G	A	6: 32,192,113 (GRCm39)	Q826*	probably null	Het
Pms1	T	A	1: 53,295,889 (GRCm39)	T161S	probably benign	Het
Prkar2a	C	A	9: 108,617,669 (GRCm39)	N242K	probably damaging	Het
Prss1	T	A	6: 41,439,690 (GRCm39)	I141N	probably damaging	Het
Puf60	A	G	15: 75,943,717 (GRCm39)	V235A	probably damaging	Het
Rapgef6	T	A	11: 54,437,252 (GRCm39)	F65Y	probably benign	Het
Rasgef1b	T	C	5: 99,447,898 (GRCm39)	E104G	unknown	Het
Rcn3	T	C	7: 44,734,333 (GRCm39)	Y225C	probably damaging	Het
Rhot1	G	C	11: 80,137,560 (GRCm39)	W354S	probably damaging	Het
Rp1	T	C	1: 4,417,513 (GRCm39)	S1200G	possibly damaging	Het
Scaper	T	A	9: 55,745,460 (GRCm39)	K603*	probably null	Het
Selenbp1	G	A	3: 94,851,745 (GRCm39)	V429I	possibly damaging	Het
Setd5	T	G	6: 113,098,099 (GRCm39)	S713A	probably benign	Het
Shank1	T	C	7: 44,002,564 (GRCm39)	Y1428H	possibly damaging	Het
Slc11a1	G	T	1: 74,422,830 (GRCm39)	W361L	possibly damaging	Het
Spta1	A	T	1: 174,050,837 (GRCm39)	D1772V	possibly damaging	Het
St8sia6	T	C	2: 13,661,721 (GRCm39)	H370R	probably damaging	Het
Stkld1	A	T	2: 26,842,726 (GRCm39)	D566V	probably damaging	Het
Tango6	T	C	8: 107,415,791 (GRCm39)	V204A	probably benign	Het
Tdrd5	G	A	1: 156,129,293 (GRCm39)	A139V	probably damaging	Het
Tenm2	A	T	11: 36,062,263 (GRCm39)	V534E	probably damaging	Het
Tfip11	A	T	5: 112,479,044 (GRCm39)	Q204L	probably benign	Het
Tlr4	A	T	4: 66,759,430 (GRCm39)	Q741L	probably damaging	Het
Tmem18	A	G	12: 30,638,654 (GRCm39)	M111V	probably benign	Het
Togaram1	A	G	12: 65,042,292 (GRCm39)	N1167S	probably benign	Het
Trappc3	C	T	4: 126,168,945 (GRCm39)	A145V	possibly damaging	Het
Trbj2-3	T	C	6: 41,520,176 (GRCm39)	F7S	probably damaging	Het
Vinac1	A	G	2: 128,880,238 (GRCm39)	S563P		Het
Vmn1r212	T	A	13: 23,067,731 (GRCm39)	M201L	probably benign	Het
Xaf1	C	A	11: 72,194,201 (GRCm39)	C27*	probably null	Het
Zeb1	T	C	18: 5,767,703 (GRCm39)	V738A	probably benign	Het
Zfp524	A	T	7: 5,020,883 (GRCm39)	H137L	probably damaging	Het
Zfyve19	A	T	2: 119,047,118 (GRCm39)	H367L	probably damaging	Het
Zim1	G	A	7: 6,680,872 (GRCm39)	Q264*	probably null	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
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
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'- TGCCGATATCTACCAGGGTC -3'
(R):5'- CTCAATGGATGCCCTCTGAG -3'

Sequencing Primer
(F):5'- CCGATATCTACCAGGGTCAAAGG -3'
(R):5'- ATGCCCTCTGAGCTCCCAG -3'

Posted On

2019-06-26