Incidental Mutation 'R8414:Irak2'
| ID |
652829 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Irak2
|
| Ensembl Gene |
ENSMUSG00000060477 |
| Gene Name |
interleukin-1 receptor-associated kinase 2 |
| Synonyms |
6330415L08Rik, IRAK-2 |
| MMRRC Submission |
067768-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8414 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
113615428-113671987 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 113663903 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 484
(N484S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055073
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059286]
[ENSMUST00000089022]
[ENSMUST00000089023]
|
| AlphaFold |
Q8CFA1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059286
AA Change: N484S
PolyPhen 2
Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000055073
Gene: ENSMUSG00000060477
AA Change: N484S
| 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
AA Change: N436S
PolyPhen 2
Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000086416
Gene: ENSMUSG00000060477
AA Change: N436S
| 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
AA Change: N423S
PolyPhen 2
Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000086417
Gene: ENSMUSG00000060477
AA Change: N423S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA467197 |
T |
C |
2: 122,480,237 (GRCm39) |
Y33H |
probably damaging |
Het |
| Abcc10 |
T |
C |
17: 46,623,273 (GRCm39) |
R880G |
probably benign |
Het |
| Abcg2 |
T |
A |
6: 58,646,221 (GRCm39) |
Y246N |
probably benign |
Het |
| Abhd18 |
A |
G |
3: 40,888,061 (GRCm39) |
M302V |
probably benign |
Het |
| Ablim2 |
A |
G |
5: 36,032,235 (GRCm39) |
D568G |
possibly damaging |
Het |
| Alpk2 |
T |
C |
18: 65,440,542 (GRCm39) |
R284G |
possibly damaging |
Het |
| AU021092 |
T |
C |
16: 5,034,649 (GRCm39) |
Y191C |
probably damaging |
Het |
| Bdp1 |
T |
A |
13: 100,200,985 (GRCm39) |
T751S |
probably benign |
Het |
| Brme1 |
A |
T |
8: 84,893,952 (GRCm39) |
E373V |
probably damaging |
Het |
| Ccdc136 |
A |
G |
6: 29,412,929 (GRCm39) |
E438G |
probably damaging |
Het |
| Cul2 |
C |
A |
18: 3,399,912 (GRCm39) |
N15K |
probably benign |
Het |
| Eml2 |
C |
A |
7: 18,913,220 (GRCm39) |
Q73K |
probably damaging |
Het |
| Epha6 |
C |
A |
16: 59,826,030 (GRCm39) |
R588S |
probably damaging |
Het |
| Eppk1 |
C |
T |
15: 75,994,319 (GRCm39) |
R854Q |
probably benign |
Het |
| Fbxw28 |
C |
T |
9: 109,155,604 (GRCm39) |
W389* |
probably null |
Het |
| Fcgbpl1 |
T |
A |
7: 27,842,158 (GRCm39) |
C698S |
probably damaging |
Het |
| Gbp4 |
A |
T |
5: 105,284,703 (GRCm39) |
V62E |
probably benign |
Het |
| Gtf2h1 |
C |
A |
7: 46,464,768 (GRCm39) |
T401K |
possibly damaging |
Het |
| Hif1a |
G |
T |
12: 73,984,428 (GRCm39) |
M294I |
probably benign |
Het |
| Kcnj16 |
A |
G |
11: 110,916,441 (GRCm39) |
T368A |
probably benign |
Het |
| Kcnq1 |
G |
A |
7: 142,917,403 (GRCm39) |
G588D |
probably damaging |
Het |
| Kcnq5 |
G |
A |
1: 21,549,648 (GRCm39) |
R360C |
probably damaging |
Het |
| Nckap5 |
T |
G |
1: 125,942,357 (GRCm39) |
E1582D |
probably damaging |
Het |
| Nrip3 |
A |
G |
7: 109,362,735 (GRCm39) |
I183T |
possibly damaging |
Het |
| Or10g9 |
T |
A |
9: 39,912,241 (GRCm39) |
H94L |
probably benign |
Het |
| Or4c117 |
A |
G |
2: 88,956,058 (GRCm39) |
F6L |
probably benign |
Het |
| Pcdha2 |
C |
T |
18: 37,074,619 (GRCm39) |
S750L |
probably damaging |
Het |
| Pik3r2 |
T |
C |
8: 71,223,079 (GRCm39) |
Y447C |
probably damaging |
Het |
| Poteg |
T |
C |
8: 27,938,068 (GRCm39) |
Y75H |
probably benign |
Het |
| Proser1 |
G |
C |
3: 53,385,977 (GRCm39) |
G620R |
probably damaging |
Het |
| Prpsap1 |
A |
T |
11: 116,369,439 (GRCm39) |
L164H |
probably damaging |
Het |
| Rfc3 |
A |
T |
5: 151,568,381 (GRCm39) |
V195E |
possibly damaging |
Het |
| Sarm1 |
A |
T |
11: 78,378,794 (GRCm39) |
V417D |
probably damaging |
Het |
| She |
A |
G |
3: 89,739,174 (GRCm39) |
T122A |
probably benign |
Het |
| Spata31e1 |
A |
G |
13: 49,941,273 (GRCm39) |
S56P |
probably damaging |
Het |
| Srpra |
A |
G |
9: 35,126,133 (GRCm39) |
E442G |
probably benign |
Het |
| Sult2a6 |
T |
A |
7: 13,984,357 (GRCm39) |
R124S |
probably damaging |
Het |
| Synm |
T |
C |
7: 67,383,511 (GRCm39) |
T1384A |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 48,746,544 (GRCm39) |
V1087A |
probably damaging |
Het |
| Ticam1 |
T |
A |
17: 56,578,340 (GRCm39) |
I252L |
probably benign |
Het |
| Trbv31 |
C |
A |
6: 41,534,697 (GRCm39) |
D89Y |
possibly damaging |
Het |
| Trpc7 |
G |
A |
13: 56,970,282 (GRCm39) |
T434I |
probably benign |
Het |
| Tubgcp4 |
T |
A |
2: 121,024,634 (GRCm39) |
I603N |
probably benign |
Het |
| Ugt3a1 |
A |
G |
15: 9,310,669 (GRCm39) |
N317S |
possibly damaging |
Het |
| Vdac1 |
C |
T |
11: 52,267,330 (GRCm39) |
T77I |
possibly damaging |
Het |
| Vmn2r113 |
A |
T |
17: 23,177,753 (GRCm39) |
R846* |
probably null |
Het |
| Zc3h12d |
GCCC |
GCC |
10: 7,715,735 (GRCm39) |
|
probably null |
Het |
| Zranb2 |
G |
T |
3: 157,252,312 (GRCm39) |
R310S |
unknown |
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 |
|
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 |
|
|
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'- TTCTCAGTGAGATTCCCAACAGTAC -3'
(R):5'- GCAACCCTGATTTCTAGGTTCC -3'
Sequencing Primer
(F):5'- GAGATTCCCAACAGTACTTCTTCAG -3'
(R):5'- GATTTCTAGGTTCCATCCTGTGC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation