Incidental Mutation 'IGL02673:Il1r2'
| ID |
303014 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Il1r2
|
| Ensembl Gene |
ENSMUSG00000026073 |
| Gene Name |
interleukin 1 receptor, type II |
| Synonyms |
Il1r-2, IL-1 receptor beta chain, CD121b |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02673
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
40123872-40164390 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 40154323 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 230
(Y230C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027243
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027243]
[ENSMUST00000191671]
[ENSMUST00000195770]
|
| AlphaFold |
P27931 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027243
AA Change: Y230C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027243
Gene: ENSMUSG00000026073
AA Change: Y230C
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
49 |
138 |
2.48e-8 |
SMART |
|
IG
|
149 |
241 |
1.6e-2 |
SMART |
|
IG
|
255 |
354 |
1.32e-3 |
SMART |
|
transmembrane domain
|
359 |
381 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191671
|
| SMART Domains |
Protein: ENSMUSP00000141882
Gene: ENSMUSG00000026073
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
49 |
138 |
1e-10 |
SMART |
|
Blast:IG
|
149 |
183 |
2e-16 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195770
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cytokine receptor that belongs to the interleukin 1 receptor family. This protein binds interleukin alpha (IL1A), interleukin beta (IL1B), and interleukin 1 receptor, type I(IL1R1/IL1RA), and acts as a decoy receptor that inhibits the activity of its ligands. Interleukin 4 (IL4) is reported to antagonize the activity of interleukin 1 by inducing the expression and release of this cytokine. This gene and three other genes form a cytokine receptor gene cluster on chromosome 2q12. Alternative splicing results in multiple transcript variants and protein isoforms. Alternative splicing produces both membrane-bound and soluble proteins. A soluble protein is also produced by proteolytic cleavage. [provided by RefSeq, May 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930012K11Rik |
T |
A |
14: 70,395,056 (GRCm39) |
T33S |
probably benign |
Het |
| Abca4 |
T |
C |
3: 121,897,150 (GRCm39) |
Y610H |
probably damaging |
Het |
| Agl |
A |
T |
3: 116,575,248 (GRCm39) |
C630S |
probably benign |
Het |
| Alkbh6 |
G |
T |
7: 30,013,536 (GRCm39) |
G202C |
probably damaging |
Het |
| Ascc3 |
A |
T |
10: 50,536,769 (GRCm39) |
M701L |
probably benign |
Het |
| Bpgm |
T |
A |
6: 34,464,769 (GRCm39) |
L162Q |
probably damaging |
Het |
| Ccdc150 |
A |
G |
1: 54,368,149 (GRCm39) |
T592A |
probably benign |
Het |
| Chpf2 |
G |
A |
5: 24,796,302 (GRCm39) |
R416Q |
probably benign |
Het |
| Col14a1 |
G |
A |
15: 55,282,178 (GRCm39) |
G813E |
unknown |
Het |
| Col18a1 |
C |
T |
10: 76,894,997 (GRCm39) |
G983D |
probably damaging |
Het |
| Col5a1 |
C |
T |
2: 27,864,727 (GRCm39) |
A737V |
unknown |
Het |
| Cyp2a22 |
T |
G |
7: 26,637,525 (GRCm39) |
K157Q |
probably benign |
Het |
| Dhx57 |
A |
G |
17: 80,574,974 (GRCm39) |
V668A |
probably damaging |
Het |
| Eps8l1 |
T |
A |
7: 4,481,731 (GRCm39) |
V743E |
probably damaging |
Het |
| Fnbp4 |
C |
T |
2: 90,593,816 (GRCm39) |
T557M |
probably benign |
Het |
| Fzd5 |
C |
T |
1: 64,774,265 (GRCm39) |
E499K |
possibly damaging |
Het |
| Gm57858 |
A |
C |
3: 36,100,848 (GRCm39) |
|
probably benign |
Het |
| Insrr |
A |
C |
3: 87,720,368 (GRCm39) |
E1002A |
possibly damaging |
Het |
| Kdm4a |
C |
T |
4: 118,025,769 (GRCm39) |
D146N |
probably benign |
Het |
| Kidins220 |
G |
A |
12: 25,044,991 (GRCm39) |
V262M |
probably damaging |
Het |
| Kif26b |
C |
T |
1: 178,649,170 (GRCm39) |
P430L |
probably damaging |
Het |
| Mamdc4 |
T |
C |
2: 25,460,066 (GRCm39) |
S62G |
probably benign |
Het |
| Mcu |
C |
A |
10: 59,303,466 (GRCm39) |
V124F |
probably damaging |
Het |
| Mlf1 |
A |
G |
3: 67,301,280 (GRCm39) |
M98V |
probably benign |
Het |
| Mogs |
T |
C |
6: 83,095,199 (GRCm39) |
V672A |
probably damaging |
Het |
| Ntrk3 |
T |
C |
7: 77,900,512 (GRCm39) |
D609G |
probably damaging |
Het |
| Or1n1 |
C |
T |
2: 36,750,188 (GRCm39) |
M57I |
probably benign |
Het |
| Pdlim5 |
T |
A |
3: 142,058,548 (GRCm39) |
E65D |
probably damaging |
Het |
| Peg3 |
T |
C |
7: 6,713,413 (GRCm39) |
N603S |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,790,257 (GRCm39) |
Y980C |
probably benign |
Het |
| Rack1 |
A |
G |
11: 48,691,357 (GRCm39) |
T23A |
probably benign |
Het |
| Rad50 |
A |
T |
11: 53,579,067 (GRCm39) |
I497K |
probably benign |
Het |
| Sin3a |
C |
A |
9: 57,014,725 (GRCm39) |
Q649K |
probably damaging |
Het |
| Sirt6 |
A |
G |
10: 81,461,671 (GRCm39) |
F46L |
probably damaging |
Het |
| Slc40a1 |
A |
T |
1: 45,957,576 (GRCm39) |
I136N |
possibly damaging |
Het |
| Sspo |
G |
A |
6: 48,452,794 (GRCm39) |
R2834H |
probably damaging |
Het |
| Sspo |
G |
T |
6: 48,475,709 (GRCm39) |
|
probably null |
Het |
| Sycp2 |
T |
A |
2: 178,036,004 (GRCm39) |
T228S |
possibly damaging |
Het |
| Uhrf2 |
T |
A |
19: 30,070,207 (GRCm39) |
N785K |
probably damaging |
Het |
| Vmn2r58 |
T |
A |
7: 41,514,082 (GRCm39) |
Y187F |
possibly damaging |
Het |
| Vmn2r80 |
A |
G |
10: 79,005,318 (GRCm39) |
I318M |
probably benign |
Het |
| Vps13c |
T |
C |
9: 67,785,380 (GRCm39) |
L249P |
probably damaging |
Het |
| Zw10 |
T |
A |
9: 48,988,893 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Il1r2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01945:Il1r2
|
APN |
1 |
40,141,613 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0019:Il1r2
|
UTSW |
1 |
40,164,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0019:Il1r2
|
UTSW |
1 |
40,164,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0299:Il1r2
|
UTSW |
1 |
40,162,309 (GRCm39) |
nonsense |
probably null |
|
|
R0499:Il1r2
|
UTSW |
1 |
40,162,309 (GRCm39) |
nonsense |
probably null |
|
|
R0607:Il1r2
|
UTSW |
1 |
40,144,615 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1435:Il1r2
|
UTSW |
1 |
40,144,459 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1925:Il1r2
|
UTSW |
1 |
40,154,308 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2209:Il1r2
|
UTSW |
1 |
40,154,298 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2240:Il1r2
|
UTSW |
1 |
40,144,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4997:Il1r2
|
UTSW |
1 |
40,160,206 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7273:Il1r2
|
UTSW |
1 |
40,151,167 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7331:Il1r2
|
UTSW |
1 |
40,162,409 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7401:Il1r2
|
UTSW |
1 |
40,162,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7751:Il1r2
|
UTSW |
1 |
40,162,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7841:Il1r2
|
UTSW |
1 |
40,144,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8363:Il1r2
|
UTSW |
1 |
40,160,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8470:Il1r2
|
UTSW |
1 |
40,162,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8520:Il1r2
|
UTSW |
1 |
40,144,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8871:Il1r2
|
UTSW |
1 |
40,144,424 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9148:Il1r2
|
UTSW |
1 |
40,151,258 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9176:Il1r2
|
UTSW |
1 |
40,144,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9558:Il1r2
|
UTSW |
1 |
40,162,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9646:Il1r2
|
UTSW |
1 |
40,162,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0010:Il1r2
|
UTSW |
1 |
40,157,141 (GRCm39) |
missense |
probably benign |
0.16 |
|
| Posted On |
2015-04-16 |
Incidental Mutation