Incidental Mutation 'R3160:Irak2'
| ID |
258103 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Irak2
|
| Ensembl Gene |
ENSMUSG00000060477 |
| Gene Name |
interleukin-1 receptor-associated kinase 2 |
| Synonyms |
6330415L08Rik, IRAK-2 |
| MMRRC Submission |
040611-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3160 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
113615428-113671987 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 113649721 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 119
(A119S)
|
| 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: A180S
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000055073
Gene: ENSMUSG00000060477
AA Change: A180S
| 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: A132S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000086416
Gene: ENSMUSG00000060477
AA Change: A132S
| 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: A119S
PolyPhen 2
Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000086417
Gene: ENSMUSG00000060477
AA Change: A119S
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy9 |
A |
G |
16: 4,129,452 (GRCm39) |
L715P |
probably damaging |
Het |
| Amer2 |
A |
G |
14: 60,616,000 (GRCm39) |
D65G |
probably damaging |
Het |
| Btnl2 |
T |
C |
17: 34,577,039 (GRCm39) |
W65R |
probably damaging |
Het |
| Camk1g |
T |
C |
1: 193,042,115 (GRCm39) |
T45A |
possibly damaging |
Het |
| Ccdc181 |
T |
A |
1: 164,107,865 (GRCm39) |
S183T |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,738,910 (GRCm39) |
H2311R |
probably benign |
Het |
| Copa |
T |
A |
1: 171,918,800 (GRCm39) |
C127S |
probably damaging |
Het |
| Crbn |
T |
C |
6: 106,767,827 (GRCm39) |
Q221R |
probably benign |
Het |
| Dapk2 |
T |
G |
9: 66,161,893 (GRCm39) |
V267G |
probably damaging |
Het |
| Decr1 |
T |
A |
4: 15,930,972 (GRCm39) |
D120V |
probably damaging |
Het |
| Dennd1c |
C |
T |
17: 57,373,562 (GRCm39) |
G637D |
possibly damaging |
Het |
| Disp1 |
T |
C |
1: 182,868,806 (GRCm39) |
K1205E |
probably benign |
Het |
| Dnajc13 |
G |
T |
9: 104,097,097 (GRCm39) |
N510K |
possibly damaging |
Het |
| Hnrnpu |
T |
C |
1: 178,158,690 (GRCm39) |
|
probably benign |
Het |
| Iqgap1 |
G |
A |
7: 80,402,086 (GRCm39) |
A393V |
probably benign |
Het |
| Itgb2l |
A |
G |
16: 96,238,589 (GRCm39) |
L70P |
probably damaging |
Het |
| Itsn1 |
C |
A |
16: 91,649,932 (GRCm39) |
S202* |
probably null |
Het |
| Mill2 |
A |
C |
7: 18,590,099 (GRCm39) |
E127A |
probably benign |
Het |
| Msh6 |
T |
C |
17: 88,292,909 (GRCm39) |
Y555H |
probably damaging |
Het |
| Myo18b |
A |
C |
5: 112,840,594 (GRCm39) |
S2400A |
probably damaging |
Het |
| Naa25 |
A |
G |
5: 121,573,135 (GRCm39) |
|
probably null |
Het |
| Nop2 |
A |
G |
6: 125,111,555 (GRCm39) |
N96S |
probably benign |
Het |
| Or11g24 |
T |
A |
14: 50,662,488 (GRCm39) |
C171S |
probably damaging |
Het |
| Or13c7b |
T |
A |
4: 43,820,544 (GRCm39) |
K272N |
probably benign |
Het |
| Or2z2 |
T |
C |
11: 58,346,053 (GRCm39) |
T241A |
probably damaging |
Het |
| Or4c52 |
T |
G |
2: 89,845,365 (GRCm39) |
Y30* |
probably null |
Het |
| Pde5a |
T |
A |
3: 122,575,277 (GRCm39) |
L356* |
probably null |
Het |
| Prss59 |
A |
G |
6: 40,903,003 (GRCm39) |
M123T |
probably benign |
Het |
| Ralgapa1 |
A |
T |
12: 55,756,371 (GRCm39) |
N1075K |
probably damaging |
Het |
| Rps2 |
G |
T |
17: 24,939,952 (GRCm39) |
A129S |
probably benign |
Het |
| Serinc2 |
A |
G |
4: 130,154,528 (GRCm39) |
S175P |
probably benign |
Het |
| Socs5 |
A |
T |
17: 87,442,146 (GRCm39) |
Q362L |
probably damaging |
Het |
| Srbd1 |
A |
T |
17: 86,437,643 (GRCm39) |
D233E |
probably benign |
Het |
| Srgap3 |
A |
G |
6: 112,706,619 (GRCm39) |
V826A |
probably benign |
Het |
| Tns2 |
A |
G |
15: 102,021,771 (GRCm39) |
E1118G |
possibly damaging |
Het |
| Topaz1 |
T |
C |
9: 122,578,446 (GRCm39) |
I452T |
probably benign |
Het |
| Tuba8 |
A |
G |
6: 121,199,697 (GRCm39) |
D127G |
possibly damaging |
Het |
| Tulp4 |
A |
G |
17: 6,248,983 (GRCm39) |
M1V |
probably null |
Het |
| Urb1 |
A |
G |
16: 90,594,791 (GRCm39) |
L247P |
probably damaging |
Het |
| Usp32 |
A |
G |
11: 84,916,362 (GRCm39) |
W861R |
probably damaging |
Het |
| Vmn1r48 |
G |
A |
6: 90,013,360 (GRCm39) |
T155I |
probably benign |
Het |
| Vmn2r117 |
A |
G |
17: 23,679,352 (GRCm39) |
L624P |
probably damaging |
Het |
| Vstm5 |
T |
G |
9: 15,168,594 (GRCm39) |
S53A |
probably benign |
Het |
| Yeats2 |
T |
C |
16: 20,012,395 (GRCm39) |
V531A |
probably 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 |
|
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 |
|
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'- AGGAACAGACTCATCTTTAATTGCC -3'
(R):5'- TGGGAAAATACACAGCCCCTG -3'
Sequencing Primer
(F):5'- ATTGCCTGTTTTTGCCTAGAATAG -3'
(R):5'- ACCTCCCTGAGCTTCTTGAAGG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation