Incidental Mutation 'R5118:Irak2'
| ID |
392735 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Irak2
|
| Ensembl Gene |
ENSMUSG00000060477 |
| Gene Name |
interleukin-1 receptor-associated kinase 2 |
| Synonyms |
6330415L08Rik, IRAK-2 |
| MMRRC Submission |
042706-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5118 (G1)
|
| Quality Score |
188 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
113615428-113671987 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 113642772 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 68
(V68D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086417
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059286]
[ENSMUST00000089022]
[ENSMUST00000089023]
[ENSMUST00000204744]
|
| AlphaFold |
Q8CFA1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059286
AA Change: V129D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000055073
Gene: ENSMUSG00000060477
AA Change: V129D
| 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
AA Change: V68D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000086417
Gene: ENSMUSG00000060477
AA Change: V68D
| 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: ENSMUST00000204091
|
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.7%
|
| Validation Efficiency |
96% (52/54) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Adamts2 |
A |
G |
11: 50,672,696 (GRCm39) |
E648G |
probably damaging |
Het |
| Ankrd55 |
A |
G |
13: 112,492,473 (GRCm39) |
S187G |
probably benign |
Het |
| Cd44 |
C |
A |
2: 102,695,715 (GRCm39) |
E52D |
probably damaging |
Het |
| Col6a5 |
T |
A |
9: 105,814,204 (GRCm39) |
I603F |
unknown |
Het |
| Dmxl2 |
C |
A |
9: 54,368,271 (GRCm39) |
R233L |
probably damaging |
Het |
| Dop1a |
T |
C |
9: 86,388,312 (GRCm39) |
F429L |
probably damaging |
Het |
| Epsti1 |
T |
G |
14: 78,224,122 (GRCm39) |
|
probably null |
Het |
| Erfe |
G |
T |
1: 91,298,438 (GRCm39) |
|
probably null |
Het |
| Galnt5 |
A |
G |
2: 57,905,015 (GRCm39) |
D526G |
probably damaging |
Het |
| Gatd1 |
A |
T |
7: 140,986,719 (GRCm39) |
|
probably benign |
Het |
| Gm1330 |
T |
C |
2: 148,844,906 (GRCm39) |
|
probably benign |
Het |
| Gm6181 |
G |
A |
7: 52,405,364 (GRCm39) |
|
noncoding transcript |
Het |
| Kdm1a |
A |
G |
4: 136,284,669 (GRCm39) |
|
probably benign |
Het |
| Kidins220 |
C |
A |
12: 25,042,296 (GRCm39) |
Q198K |
probably damaging |
Het |
| Lgr5 |
A |
G |
10: 115,288,244 (GRCm39) |
V728A |
possibly damaging |
Het |
| Micall2 |
G |
A |
5: 139,702,202 (GRCm39) |
T347M |
probably damaging |
Het |
| Mrap2 |
T |
C |
9: 87,064,756 (GRCm39) |
F166L |
possibly damaging |
Het |
| Msh3 |
A |
T |
13: 92,445,942 (GRCm39) |
|
probably benign |
Het |
| Mul1 |
T |
A |
4: 138,166,660 (GRCm39) |
L238Q |
probably damaging |
Het |
| Nuak1 |
G |
T |
10: 84,210,848 (GRCm39) |
H413Q |
probably benign |
Het |
| Or10j27 |
T |
C |
1: 172,958,484 (GRCm39) |
Q100R |
possibly damaging |
Het |
| Pcnt |
C |
T |
10: 76,248,002 (GRCm39) |
A931T |
probably damaging |
Het |
| Pramel20 |
T |
C |
4: 143,297,697 (GRCm39) |
L39P |
probably damaging |
Het |
| Pramel34 |
T |
A |
5: 93,785,656 (GRCm39) |
D208V |
probably benign |
Het |
| Psmb4 |
T |
C |
3: 94,792,253 (GRCm39) |
Y223C |
probably damaging |
Het |
| Rbm15b |
G |
T |
9: 106,763,301 (GRCm39) |
A289E |
possibly damaging |
Het |
| Reg3b |
T |
A |
6: 78,349,111 (GRCm39) |
V79E |
probably damaging |
Het |
| Rsl1 |
A |
G |
13: 67,330,045 (GRCm39) |
I164M |
probably damaging |
Het |
| Rtp1 |
T |
C |
16: 23,250,285 (GRCm39) |
F217L |
probably benign |
Het |
| Sfmbt1 |
T |
C |
14: 30,512,727 (GRCm39) |
L360P |
probably damaging |
Het |
| Sorbs2 |
T |
C |
8: 46,248,822 (GRCm39) |
V611A |
probably damaging |
Het |
| Tenm4 |
T |
A |
7: 96,542,293 (GRCm39) |
D1935E |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 51,093,044 (GRCm39) |
|
probably null |
Het |
| Tmppe |
T |
G |
9: 114,234,549 (GRCm39) |
S283A |
probably benign |
Het |
| Tmtc1 |
A |
G |
6: 148,171,485 (GRCm39) |
|
probably benign |
Het |
| Trp63 |
T |
C |
16: 25,707,760 (GRCm39) |
I552T |
unknown |
Het |
| Tspan2 |
C |
A |
3: 102,657,151 (GRCm39) |
D45E |
probably benign |
Het |
| Tut4 |
T |
A |
4: 108,377,489 (GRCm39) |
D966E |
possibly damaging |
Het |
| Ubr1 |
T |
C |
2: 120,712,745 (GRCm39) |
E1396G |
probably benign |
Het |
| Usp17lc |
A |
T |
7: 103,067,868 (GRCm39) |
T388S |
probably benign |
Het |
| Wdr46 |
T |
C |
17: 34,167,811 (GRCm39) |
V508A |
possibly damaging |
Het |
| Zfp462 |
T |
A |
4: 55,010,667 (GRCm39) |
Y878N |
probably damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
| Zfp954 |
T |
A |
7: 7,118,714 (GRCm39) |
T277S |
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 |
|
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 |
|
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'- GGTTGGACCTCAAGTCTCTGAC -3'
(R):5'- TGATCCTAGCACCCACATAGTG -3'
Sequencing Primer
(F):5'- GTTCCTGAGAGCACATCT -3'
(R):5'- TAGTGATCCTAGCACCCACATAGTG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation