Incidental Mutation 'R1120:Irak2'
ID |
95493 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Irak2
|
Ensembl Gene |
ENSMUSG00000060477 |
Gene Name |
interleukin-1 receptor-associated kinase 2 |
Synonyms |
6330415L08Rik, IRAK-2 |
MMRRC Submission |
039193-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1120 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
113615428-113671987 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to A
at 113652720 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144848
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059286]
[ENSMUST00000089022]
[ENSMUST00000089023]
[ENSMUST00000204744]
|
AlphaFold |
Q8CFA1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000059286
|
SMART Domains |
Protein: ENSMUSP00000055073 Gene: ENSMUSG00000060477
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: ENSMUST00000089022
|
SMART Domains |
Protein: ENSMUSP00000086416 Gene: ENSMUSG00000060477
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 benign
Transcript: ENSMUST00000089023
|
SMART Domains |
Protein: ENSMUSP00000086417 Gene: ENSMUSG00000060477
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: 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: ENSMUST00000155554
|
SMART Domains |
Protein: ENSMUSP00000117755 Gene: ENSMUSG00000060477
Domain | Start | End | E-Value | Type |
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
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: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
Validation Efficiency |
100% (40/40) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb8 |
T |
G |
5: 24,613,818 (GRCm39) |
|
probably null |
Het |
Akp3 |
A |
T |
1: 87,053,159 (GRCm39) |
Q77L |
probably damaging |
Het |
Blm |
A |
G |
7: 80,131,214 (GRCm39) |
L878S |
probably damaging |
Het |
Cabin1 |
A |
G |
10: 75,561,550 (GRCm39) |
Y984H |
probably damaging |
Het |
Cadps2 |
T |
C |
6: 23,838,793 (GRCm39) |
Q86R |
probably damaging |
Het |
Cd2 |
C |
T |
3: 101,194,804 (GRCm39) |
D95N |
probably damaging |
Het |
Cd36 |
A |
G |
5: 17,990,826 (GRCm39) |
I438T |
possibly damaging |
Het |
Crhbp |
G |
T |
13: 95,578,593 (GRCm39) |
T176K |
probably benign |
Het |
D630045J12Rik |
G |
T |
6: 38,171,705 (GRCm39) |
T821K |
probably damaging |
Het |
Disp1 |
T |
C |
1: 182,880,139 (GRCm39) |
D288G |
probably benign |
Het |
Dsc3 |
A |
G |
18: 20,120,034 (GRCm39) |
V208A |
probably benign |
Het |
Eef1e1 |
A |
T |
13: 38,842,910 (GRCm39) |
N20K |
probably damaging |
Het |
Ercc5 |
A |
G |
1: 44,201,001 (GRCm39) |
D187G |
probably damaging |
Het |
Etl4 |
T |
A |
2: 20,811,514 (GRCm39) |
M1199K |
probably benign |
Het |
Fnbp1 |
A |
T |
2: 30,926,606 (GRCm39) |
Y433N |
probably damaging |
Het |
Fxyd3 |
A |
G |
7: 30,770,803 (GRCm39) |
|
probably benign |
Het |
Hfm1 |
A |
T |
5: 107,052,084 (GRCm39) |
|
probably benign |
Het |
Jpt2 |
T |
C |
17: 25,179,585 (GRCm39) |
M1V |
probably null |
Het |
Knl1 |
A |
G |
2: 118,892,856 (GRCm39) |
R51G |
probably damaging |
Het |
Krtap8-1 |
A |
G |
16: 89,284,753 (GRCm39) |
Y15H |
probably benign |
Het |
Lrba |
A |
T |
3: 86,202,499 (GRCm39) |
D250V |
probably damaging |
Het |
Mgat4a |
A |
G |
1: 37,491,662 (GRCm39) |
S357P |
probably damaging |
Het |
Nup98 |
T |
A |
7: 101,809,923 (GRCm39) |
T536S |
probably damaging |
Het |
Or4a27 |
A |
G |
2: 88,559,281 (GRCm39) |
Y221H |
probably damaging |
Het |
Or4c109 |
A |
G |
2: 88,818,423 (GRCm39) |
M41T |
possibly damaging |
Het |
Or9k2 |
A |
G |
10: 129,998,406 (GRCm39) |
L263P |
probably damaging |
Het |
Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
Pnpla8 |
A |
G |
12: 44,351,730 (GRCm39) |
T568A |
possibly damaging |
Het |
Ptprn |
A |
G |
1: 75,234,825 (GRCm39) |
I254T |
probably benign |
Het |
Rab5b |
A |
C |
10: 128,515,483 (GRCm39) |
N188K |
probably benign |
Het |
Samd5 |
A |
G |
10: 9,504,792 (GRCm39) |
V154A |
possibly damaging |
Het |
Smarcb1 |
A |
G |
10: 75,757,157 (GRCm39) |
F25L |
probably benign |
Het |
Smchd1 |
A |
T |
17: 71,665,141 (GRCm39) |
Y1847* |
probably null |
Het |
Smpd4 |
T |
C |
16: 17,456,350 (GRCm39) |
|
probably benign |
Het |
Tex14 |
T |
A |
11: 87,429,502 (GRCm39) |
|
probably benign |
Het |
Tnfrsf26 |
G |
A |
7: 143,171,651 (GRCm39) |
R101C |
probably damaging |
Het |
Trmu |
A |
G |
15: 85,774,486 (GRCm39) |
K37E |
possibly damaging |
Het |
Tsen54 |
C |
T |
11: 115,705,839 (GRCm39) |
A52V |
probably damaging |
Het |
Ubb |
T |
C |
11: 62,443,009 (GRCm39) |
I13T |
possibly damaging |
Het |
Vmn2r101 |
A |
T |
17: 19,797,723 (GRCm39) |
|
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 |
|
R0658:Irak2
|
UTSW |
6 |
113,615,525 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- CCAGGAAGTGGGGTCTGCCT -3'
(R):5'- GCTCAGCCAGTGTGATGTACTACC -3'
Sequencing Primer
(F):5'- GCCTGTGGCTCTTGCTC -3'
(R):5'- gaagtaaagacaggaggaccag -3'
|
Posted On |
2014-01-05 |