Incidental Mutation 'R7273:Il1r2'
| ID |
565383 |
| 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 |
045357-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7273 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
40123872-40164390 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 40151167 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 141
(T141A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027243
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027243]
[ENSMUST00000191671]
[ENSMUST00000195770]
|
| AlphaFold |
P27931 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027243
AA Change: T141A
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000027243
Gene: ENSMUSG00000026073
AA Change: T141A
| 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
AA Change: T141A
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000141882
Gene: ENSMUSG00000026073
AA Change: T141A
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
49 |
138 |
1e-10 |
SMART |
|
Blast:IG
|
149 |
183 |
2e-16 |
BLAST |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000195770
AA Change: I54M
|
| Meta Mutation Damage Score |
0.0745 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (49/49) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol10a |
A |
T |
15: 77,373,068 (GRCm39) |
I235F |
probably damaging |
Het |
| Aspn |
A |
T |
13: 49,712,352 (GRCm39) |
E222D |
probably benign |
Het |
| Cfap221 |
A |
T |
1: 119,881,948 (GRCm39) |
V280D |
possibly damaging |
Het |
| Chrd |
G |
A |
16: 20,560,316 (GRCm39) |
R922Q |
probably benign |
Het |
| Cnga4 |
T |
A |
7: 105,056,172 (GRCm39) |
V361E |
probably damaging |
Het |
| Col15a1 |
T |
A |
4: 47,284,467 (GRCm39) |
|
probably null |
Het |
| Col6a4 |
A |
G |
9: 105,877,656 (GRCm39) |
V2107A |
possibly damaging |
Het |
| Eea1 |
G |
T |
10: 95,825,493 (GRCm39) |
V63F |
probably benign |
Het |
| Eml1 |
A |
G |
12: 108,504,432 (GRCm39) |
H797R |
possibly damaging |
Het |
| Il6st |
T |
C |
13: 112,631,832 (GRCm39) |
V457A |
probably benign |
Het |
| Kif19b |
T |
A |
5: 140,461,767 (GRCm39) |
V523E |
probably damaging |
Het |
| Lrrc56 |
T |
C |
7: 140,789,578 (GRCm39) |
C532R |
probably benign |
Het |
| Lrrn4 |
T |
C |
2: 132,721,749 (GRCm39) |
S23G |
unknown |
Het |
| Mapk8ip3 |
A |
T |
17: 25,125,148 (GRCm39) |
D498E |
probably benign |
Het |
| Mcam |
T |
C |
9: 44,052,241 (GRCm39) |
F584S |
possibly damaging |
Het |
| Mdga1 |
A |
T |
17: 30,188,912 (GRCm39) |
D50E |
unknown |
Het |
| Mga |
T |
C |
2: 119,765,695 (GRCm39) |
S1320P |
probably damaging |
Het |
| Muc5b |
G |
A |
7: 141,405,307 (GRCm39) |
G905D |
unknown |
Het |
| Ncor2 |
T |
C |
5: 125,100,687 (GRCm39) |
N1297S |
|
Het |
| Nisch |
A |
G |
14: 30,896,364 (GRCm39) |
V946A |
unknown |
Het |
| Npc1l1 |
A |
G |
11: 6,168,320 (GRCm39) |
F957S |
probably damaging |
Het |
| Nuggc |
A |
G |
14: 65,857,057 (GRCm39) |
N402S |
probably damaging |
Het |
| Nup210l |
A |
G |
3: 90,025,854 (GRCm39) |
T159A |
probably benign |
Het |
| Or10g6 |
A |
T |
9: 39,933,961 (GRCm39) |
I91F |
probably benign |
Het |
| Otud1 |
A |
G |
2: 19,663,873 (GRCm39) |
D334G |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,731,608 (GRCm39) |
V3370A |
unknown |
Het |
| Prdm16 |
A |
G |
4: 154,429,910 (GRCm39) |
L353P |
probably damaging |
Het |
| Prepl |
A |
C |
17: 85,389,420 (GRCm39) |
V128G |
probably benign |
Het |
| Pum1 |
T |
C |
4: 130,478,791 (GRCm39) |
V568A |
probably damaging |
Het |
| Rab10 |
G |
T |
12: 3,306,891 (GRCm39) |
S101R |
probably benign |
Het |
| Rfx3 |
C |
T |
19: 27,779,858 (GRCm39) |
R435Q |
probably damaging |
Het |
| Rnf213 |
A |
T |
11: 119,322,582 (GRCm39) |
|
probably null |
Het |
| Sema5a |
A |
G |
15: 32,417,608 (GRCm39) |
D26G |
probably benign |
Het |
| Slc49a3 |
T |
C |
5: 108,589,857 (GRCm39) |
D515G |
probably benign |
Het |
| Spata31d1b |
G |
A |
13: 59,865,446 (GRCm39) |
V865I |
probably benign |
Het |
| Sycp3 |
A |
T |
10: 88,305,428 (GRCm39) |
Q176H |
probably damaging |
Het |
| Tdpoz8 |
G |
T |
3: 92,981,475 (GRCm39) |
M90I |
probably damaging |
Het |
| Tmprss11d |
A |
T |
5: 86,485,098 (GRCm39) |
V102D |
probably damaging |
Het |
| Top1mt |
A |
G |
15: 75,535,931 (GRCm39) |
V457A |
probably benign |
Het |
| Tubal3 |
T |
A |
13: 3,980,675 (GRCm39) |
I129N |
probably damaging |
Het |
| Ubr3 |
G |
A |
2: 69,809,677 (GRCm39) |
D1217N |
probably damaging |
Het |
| Uggt1 |
A |
G |
1: 36,201,302 (GRCm39) |
I1146T |
probably damaging |
Het |
| Umod |
T |
C |
7: 119,076,250 (GRCm39) |
Q172R |
probably benign |
Het |
| Uqcc5 |
G |
T |
14: 30,846,555 (GRCm39) |
R55S |
probably damaging |
Het |
| Zdbf2 |
C |
T |
1: 63,342,563 (GRCm39) |
A314V |
possibly damaging |
Het |
| Zfp787 |
A |
T |
7: 6,136,039 (GRCm39) |
C71S |
possibly damaging |
Het |
| Zhx2 |
C |
T |
15: 57,686,824 (GRCm39) |
A731V |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAAGCCGCACTCTTCAAGG -3'
(R):5'- GAAATCATTTCACACTCTGCCTGC -3'
Sequencing Primer
(F):5'- TCTTCAAGGCAGGGCAGACTG -3'
(R):5'- ACACTCTGCCTGCATGAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation