Incidental Mutation 'R8363:Il1r2'
| ID |
646032 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il1r2
|
| Ensembl Gene |
ENSMUSG00000026073 |
| Gene Name |
interleukin 1 receptor, type II |
| Synonyms |
Il1r-2, IL-1 receptor beta chain, CD121b |
| MMRRC Submission |
067654-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8363 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
40123872-40164390 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 40160095 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 272
(V272M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027243
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027243]
[ENSMUST00000195770]
|
| AlphaFold |
P27931 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027243
AA Change: V272M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027243
Gene: ENSMUSG00000026073
AA Change: V272M
| 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: ENSMUST00000195770
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
A |
9: 124,055,800 (GRCm39) |
I375L |
|
Het |
| Adamts18 |
C |
T |
8: 114,493,795 (GRCm39) |
G448D |
probably damaging |
Het |
| Bzw2 |
A |
G |
12: 36,180,122 (GRCm39) |
V35A |
probably benign |
Het |
| C2cd4d |
C |
T |
3: 94,271,157 (GRCm39) |
T141M |
probably benign |
Het |
| Chchd4 |
T |
A |
6: 91,444,737 (GRCm39) |
K17* |
probably null |
Het |
| Cmas |
C |
T |
6: 142,702,554 (GRCm39) |
P19L |
probably benign |
Het |
| Colec10 |
A |
G |
15: 54,274,238 (GRCm39) |
H22R |
probably benign |
Het |
| D630045J12Rik |
T |
C |
6: 38,125,376 (GRCm39) |
D1546G |
probably damaging |
Het |
| Dgki |
A |
T |
6: 36,993,613 (GRCm39) |
C583S |
probably damaging |
Het |
| Dhrs13 |
G |
T |
11: 77,925,343 (GRCm39) |
V205L |
probably damaging |
Het |
| Eif4a3l1 |
T |
G |
6: 136,306,453 (GRCm39) |
S305A |
probably benign |
Het |
| Eppk1 |
C |
T |
15: 75,994,319 (GRCm39) |
R854Q |
probably benign |
Het |
| Erc1 |
T |
C |
6: 119,730,260 (GRCm39) |
D612G |
probably benign |
Het |
| Fam163b |
G |
A |
2: 27,002,650 (GRCm39) |
R116C |
probably benign |
Het |
| Gm5160 |
T |
C |
18: 14,557,929 (GRCm39) |
V2A |
possibly damaging |
Het |
| Gm8247 |
A |
T |
14: 44,823,919 (GRCm39) |
I202F |
|
Het |
| Gnpat |
T |
C |
8: 125,590,038 (GRCm39) |
V21A |
probably benign |
Het |
| Igfn1 |
A |
T |
1: 135,891,625 (GRCm39) |
S2297T |
probably benign |
Het |
| Igkv13-85 |
A |
G |
6: 68,907,269 (GRCm39) |
Y111H |
probably damaging |
Het |
| Il17rd |
A |
G |
14: 26,813,906 (GRCm39) |
N206D |
probably damaging |
Het |
| Ivl |
T |
A |
3: 92,479,525 (GRCm39) |
H180L |
possibly damaging |
Het |
| Kcnq5 |
G |
A |
1: 21,549,648 (GRCm39) |
R360C |
probably damaging |
Het |
| Kirrel2 |
A |
G |
7: 30,152,968 (GRCm39) |
V350A |
probably damaging |
Het |
| Mcpt4 |
A |
G |
14: 56,299,692 (GRCm39) |
S14P |
probably damaging |
Het |
| Mdm2 |
A |
G |
10: 117,526,239 (GRCm39) |
V449A |
probably damaging |
Het |
| Mga |
T |
C |
2: 119,794,407 (GRCm39) |
V2697A |
probably benign |
Het |
| Mlxipl |
T |
C |
5: 135,135,930 (GRCm39) |
F52L |
probably benign |
Het |
| Mtarc2 |
A |
G |
1: 184,566,055 (GRCm39) |
|
probably null |
Het |
| Ndst3 |
T |
C |
3: 123,350,517 (GRCm39) |
S623G |
possibly damaging |
Het |
| Oas1a |
C |
T |
5: 121,043,902 (GRCm39) |
A77T |
probably damaging |
Het |
| Or4d1 |
A |
T |
11: 87,805,069 (GRCm39) |
I221N |
probably damaging |
Het |
| Or9a2 |
T |
C |
6: 41,748,684 (GRCm39) |
Q183R |
probably benign |
Het |
| P3h2 |
A |
G |
16: 25,811,468 (GRCm39) |
F252L |
probably damaging |
Het |
| Psme4 |
A |
G |
11: 30,762,139 (GRCm39) |
D493G |
probably damaging |
Het |
| Rab3ip |
A |
C |
10: 116,754,869 (GRCm39) |
I229S |
probably damaging |
Het |
| Ralgapb |
T |
C |
2: 158,268,119 (GRCm39) |
L74P |
probably damaging |
Het |
| Scn1a |
G |
T |
2: 66,152,601 (GRCm39) |
N804K |
probably damaging |
Het |
| Slc22a6 |
A |
T |
19: 8,596,386 (GRCm39) |
H124L |
probably benign |
Het |
| Slc6a6 |
A |
G |
6: 91,727,277 (GRCm39) |
I492V |
probably benign |
Het |
| Snx2 |
G |
T |
18: 53,330,936 (GRCm39) |
E134* |
probably null |
Het |
| Stt3b |
A |
G |
9: 115,083,988 (GRCm39) |
I396T |
probably damaging |
Het |
| Tcp11 |
A |
G |
17: 28,288,221 (GRCm39) |
S415P |
possibly damaging |
Het |
| Vmn2r67 |
A |
T |
7: 84,804,969 (GRCm39) |
S48T |
probably benign |
Het |
| Vps16 |
T |
A |
2: 130,284,161 (GRCm39) |
F665L |
probably benign |
Het |
| Wdhd1 |
A |
T |
14: 47,513,989 (GRCm39) |
D22E |
probably damaging |
Het |
| Zng1 |
A |
T |
19: 24,920,091 (GRCm39) |
H175Q |
probably benign |
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 |
|
IGL02673:Il1r2
|
APN |
1 |
40,154,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGGCCAATAGGTGCTAAAGC -3'
(R):5'- CTGAATGTGACATCGGCTCC -3'
Sequencing Primer
(F):5'- GGCCAATAGGTGCTAAAGCTTTAC -3'
(R):5'- TGTGACATCGGCTCCAGAAG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation