Incidental Mutation 'IGL03026:Irak2'
| ID |
408188 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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)
|
| Stock # |
IGL03026
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
113615428-113671987 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 113653612 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 260
(V260E)
|
| 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: V321E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000055073
Gene: ENSMUSG00000060477
AA Change: V321E
| 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: V273E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000086416
Gene: ENSMUSG00000060477
AA Change: V273E
| 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: V260E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000086417
Gene: ENSMUSG00000060477
AA Change: V260E
| 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 |
|
| 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 |
|---|
| Acly |
A |
G |
11: 100,410,516 (GRCm39) |
V154A |
possibly damaging |
Het |
| Adcy4 |
T |
C |
14: 56,015,467 (GRCm39) |
Y481C |
probably damaging |
Het |
| Adcy5 |
T |
C |
16: 34,977,412 (GRCm39) |
V315A |
probably benign |
Het |
| Atf7ip |
G |
A |
6: 136,582,380 (GRCm39) |
S1130N |
possibly damaging |
Het |
| Ctss |
A |
G |
3: 95,446,141 (GRCm39) |
D87G |
probably benign |
Het |
| Cwf19l2 |
A |
T |
9: 3,428,777 (GRCm39) |
K254N |
probably benign |
Het |
| Dnajc10 |
A |
G |
2: 80,179,647 (GRCm39) |
D727G |
probably damaging |
Het |
| Dsg3 |
G |
A |
18: 20,670,029 (GRCm39) |
|
probably null |
Het |
| Ehmt1 |
T |
C |
2: 24,742,746 (GRCm39) |
M478V |
probably benign |
Het |
| Enam |
A |
T |
5: 88,651,158 (GRCm39) |
N889I |
probably benign |
Het |
| Exo1 |
G |
T |
1: 175,736,003 (GRCm39) |
*148L |
probably null |
Het |
| Fam133b |
G |
T |
5: 3,609,646 (GRCm39) |
|
probably benign |
Het |
| Foxj2 |
G |
A |
6: 122,815,139 (GRCm39) |
A392T |
probably benign |
Het |
| Gbp4 |
G |
T |
5: 105,267,866 (GRCm39) |
A460E |
possibly damaging |
Het |
| H1f5 |
G |
A |
13: 21,964,117 (GRCm39) |
|
probably benign |
Het |
| Has3 |
A |
T |
8: 107,605,242 (GRCm39) |
I483F |
probably benign |
Het |
| Kcnj8 |
T |
C |
6: 142,512,199 (GRCm39) |
|
probably null |
Het |
| Lama5 |
A |
G |
2: 179,837,760 (GRCm39) |
V936A |
probably benign |
Het |
| Lmo7 |
C |
T |
14: 102,166,769 (GRCm39) |
|
probably benign |
Het |
| Morc3 |
T |
A |
16: 93,659,612 (GRCm39) |
|
probably benign |
Het |
| Muc6 |
T |
C |
7: 141,226,414 (GRCm39) |
|
probably benign |
Het |
| Nkx2-2 |
T |
C |
2: 147,027,742 (GRCm39) |
Y66C |
probably damaging |
Het |
| Oaz1 |
G |
A |
10: 80,664,634 (GRCm39) |
|
probably benign |
Het |
| Or2y1f |
A |
T |
11: 49,184,285 (GRCm39) |
I46F |
probably damaging |
Het |
| Or6c38 |
G |
A |
10: 128,929,057 (GRCm39) |
A262V |
possibly damaging |
Het |
| Or6c65 |
A |
T |
10: 129,603,910 (GRCm39) |
M182L |
probably benign |
Het |
| Pkd2 |
A |
T |
5: 104,642,753 (GRCm39) |
|
probably benign |
Het |
| Plcb4 |
A |
G |
2: 135,792,349 (GRCm39) |
|
probably benign |
Het |
| Ralgapa2 |
C |
A |
2: 146,302,695 (GRCm39) |
|
probably benign |
Het |
| Rfx7 |
T |
C |
9: 72,526,967 (GRCm39) |
S1386P |
probably damaging |
Het |
| Ric1 |
T |
G |
19: 29,577,233 (GRCm39) |
W1046G |
probably benign |
Het |
| Rrp12 |
C |
A |
19: 41,861,436 (GRCm39) |
R957L |
probably damaging |
Het |
| Scn7a |
T |
C |
2: 66,506,442 (GRCm39) |
I1482M |
probably damaging |
Het |
| Sema3b |
T |
C |
9: 107,479,262 (GRCm39) |
N236S |
probably damaging |
Het |
| Skint6 |
T |
A |
4: 112,848,441 (GRCm39) |
|
probably null |
Het |
| Slfn5 |
T |
C |
11: 82,847,387 (GRCm39) |
Y91H |
probably benign |
Het |
| Sptbn2 |
T |
A |
19: 4,774,261 (GRCm39) |
|
probably null |
Het |
| Szt2 |
A |
G |
4: 118,249,046 (GRCm39) |
L546P |
probably benign |
Het |
| Tas1r3 |
A |
G |
4: 155,946,300 (GRCm39) |
|
probably benign |
Het |
| Trim75 |
A |
G |
8: 65,436,438 (GRCm39) |
V4A |
probably benign |
Het |
| Usp19 |
T |
C |
9: 108,370,344 (GRCm39) |
L56P |
probably damaging |
Het |
| Vmn1r181 |
T |
G |
7: 23,684,000 (GRCm39) |
I155S |
possibly damaging |
Het |
| Vmn2r43 |
G |
T |
7: 8,258,096 (GRCm39) |
D372E |
probably benign |
Het |
| Vstm2b |
C |
A |
7: 40,551,945 (GRCm39) |
S99* |
probably null |
Het |
| Wdr11 |
A |
G |
7: 129,226,060 (GRCm39) |
D735G |
probably damaging |
Het |
| Wee2 |
T |
A |
6: 40,438,915 (GRCm39) |
M346K |
probably benign |
Het |
| Zap70 |
A |
G |
1: 36,818,798 (GRCm39) |
K371R |
possibly damaging |
Het |
| Zfp990 |
A |
T |
4: 145,263,680 (GRCm39) |
H226L |
possibly 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 |
|
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 |
|
|
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 |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation