Incidental Mutation 'R5082:Irak2'
| ID |
387185 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Irak2
|
| Ensembl Gene |
ENSMUSG00000060477 |
| Gene Name |
interleukin-1 receptor-associated kinase 2 |
| Synonyms |
6330415L08Rik, IRAK-2 |
| MMRRC Submission |
042671-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5082 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
113615428-113671987 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 113649805 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 147
(F147L)
|
| 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: F208L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000055073
Gene: ENSMUSG00000060477
AA Change: F208L
| 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: F160L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000086416
Gene: ENSMUSG00000060477
AA Change: F160L
| 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: F147L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000086417
Gene: ENSMUSG00000060477
AA Change: F147L
| 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: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.3%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
A |
11: 110,022,694 (GRCm39) |
M1015L |
probably benign |
Het |
| Aftph |
T |
C |
11: 20,677,100 (GRCm39) |
S170G |
probably damaging |
Het |
| Aox4 |
C |
T |
1: 58,270,642 (GRCm39) |
P274S |
possibly damaging |
Het |
| Ash1l |
G |
A |
3: 88,873,541 (GRCm39) |
R108Q |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,406,414 (GRCm39) |
L1767* |
probably null |
Het |
| Baz2b |
T |
A |
2: 59,731,835 (GRCm39) |
K2068* |
probably null |
Het |
| Bcl9 |
A |
T |
3: 97,117,218 (GRCm39) |
V492D |
probably damaging |
Het |
| Bicc1 |
G |
T |
10: 70,776,352 (GRCm39) |
H782Q |
probably benign |
Het |
| Cabin1 |
T |
A |
10: 75,574,164 (GRCm39) |
I640F |
probably damaging |
Het |
| Ccng1 |
A |
G |
11: 40,643,015 (GRCm39) |
V144A |
possibly damaging |
Het |
| Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
| Ddx1 |
G |
T |
12: 13,270,436 (GRCm39) |
C668* |
probably null |
Het |
| Dhx58 |
G |
A |
11: 100,587,802 (GRCm39) |
S585L |
probably benign |
Het |
| Dnttip2 |
A |
T |
3: 122,069,590 (GRCm39) |
K268N |
probably damaging |
Het |
| Ecd |
C |
T |
14: 20,374,436 (GRCm39) |
|
probably null |
Het |
| Entpd1 |
A |
G |
19: 40,713,473 (GRCm39) |
|
probably null |
Het |
| Erlin2 |
T |
C |
8: 27,523,435 (GRCm39) |
V224A |
probably damaging |
Het |
| Exoc3l4 |
A |
G |
12: 111,394,424 (GRCm39) |
S515G |
probably benign |
Het |
| Fcho1 |
T |
C |
8: 72,169,829 (GRCm39) |
D98G |
possibly damaging |
Het |
| Fhod1 |
T |
A |
8: 106,057,145 (GRCm39) |
D943V |
probably damaging |
Het |
| Gm10322 |
A |
T |
10: 59,452,090 (GRCm39) |
E69V |
possibly damaging |
Het |
| Gm14295 |
T |
A |
2: 176,499,210 (GRCm39) |
L19* |
probably null |
Het |
| Gm7347 |
T |
A |
5: 26,262,372 (GRCm39) |
R50* |
probably null |
Het |
| Hesx1 |
T |
C |
14: 26,722,731 (GRCm39) |
C19R |
probably benign |
Het |
| Hgh1 |
T |
A |
15: 76,253,752 (GRCm39) |
F199L |
probably benign |
Het |
| Kif22 |
G |
A |
7: 126,632,549 (GRCm39) |
R254C |
possibly damaging |
Het |
| Klhl9 |
A |
T |
4: 88,639,622 (GRCm39) |
S206R |
probably damaging |
Het |
| Maip1 |
T |
C |
1: 57,451,010 (GRCm39) |
|
probably null |
Het |
| Mcm9 |
T |
A |
10: 53,414,156 (GRCm39) |
E308V |
possibly damaging |
Het |
| Mfsd13b |
A |
T |
7: 120,598,201 (GRCm39) |
N369I |
possibly damaging |
Het |
| Mga |
T |
A |
2: 119,733,825 (GRCm39) |
H224Q |
probably damaging |
Het |
| Mtss1 |
A |
T |
15: 58,842,868 (GRCm39) |
W115R |
probably damaging |
Het |
| Myo3b |
T |
C |
2: 70,088,374 (GRCm39) |
V851A |
probably benign |
Het |
| Nectin2 |
A |
T |
7: 19,472,049 (GRCm39) |
D113E |
probably damaging |
Het |
| Notch2 |
G |
A |
3: 98,007,690 (GRCm39) |
C480Y |
probably damaging |
Het |
| Or6b6 |
G |
A |
7: 106,570,871 (GRCm39) |
R227C |
probably benign |
Het |
| Or8b55 |
T |
C |
9: 38,727,441 (GRCm39) |
I214T |
possibly damaging |
Het |
| Pfdn1 |
G |
T |
18: 36,537,466 (GRCm39) |
N111K |
probably damaging |
Het |
| Pfkl |
A |
T |
10: 77,832,242 (GRCm39) |
V283E |
probably damaging |
Het |
| Plbd2 |
G |
T |
5: 120,629,249 (GRCm39) |
S305* |
probably null |
Het |
| Prom1 |
T |
C |
5: 44,158,174 (GRCm39) |
|
probably null |
Het |
| Ptbp2 |
T |
A |
3: 119,546,613 (GRCm39) |
M90L |
probably benign |
Het |
| Rai1 |
G |
A |
11: 60,076,745 (GRCm39) |
E270K |
possibly damaging |
Het |
| Rbbp6 |
G |
A |
7: 122,599,925 (GRCm39) |
|
probably benign |
Het |
| Reln |
T |
C |
5: 22,101,075 (GRCm39) |
M3399V |
probably benign |
Het |
| Ros1 |
T |
A |
10: 52,040,037 (GRCm39) |
Y318F |
possibly damaging |
Het |
| Sh2d2a |
A |
G |
3: 87,759,091 (GRCm39) |
D231G |
probably benign |
Het |
| Smn1 |
T |
C |
13: 100,273,890 (GRCm39) |
|
probably benign |
Het |
| Snrnp200 |
C |
T |
2: 127,068,290 (GRCm39) |
Q877* |
probably null |
Het |
| Taf2 |
G |
T |
15: 54,923,441 (GRCm39) |
H279N |
probably benign |
Het |
| Tnfaip3 |
T |
C |
10: 18,881,032 (GRCm39) |
Y345C |
probably damaging |
Het |
| Vmn2r68 |
C |
T |
7: 84,883,076 (GRCm39) |
M225I |
probably benign |
Het |
| Vps13a |
A |
T |
19: 16,722,257 (GRCm39) |
W352R |
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 |
|
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 |
|
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'- CTGGCAGGAACAGACTCATC -3'
(R):5'- GTGGGAAAATACACAGCCCCTG -3'
Sequencing Primer
(F):5'- GGAACAGACTCATCTTTAATTGCCTG -3'
(R):5'- GGAAAATACACAGCCCCTGAAGAC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation