Incidental Mutation 'R2309:Il1rl1'
| ID |
244693 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il1rl1
|
| Ensembl Gene |
ENSMUSG00000026069 |
| Gene Name |
interleukin 1 receptor-like 1 |
| Synonyms |
DER4, Ly84, St2-rs1, St2, T1/ST2, ST2L, ST2, Fit-1, T1, T1 gene |
| MMRRC Submission |
040308-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2309 (G1)
|
| Quality Score |
218 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
40468730-40504575 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 40481817 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 175
(D175G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134351
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053043]
[ENSMUST00000097772]
[ENSMUST00000173514]
[ENSMUST00000173881]
[ENSMUST00000174335]
|
| AlphaFold |
P14719 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053043
AA Change: D175G
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000054914
Gene: ENSMUSG00000026069
AA Change: D175G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
IGc2
|
33 |
100 |
7.35e-11 |
SMART |
|
IGc2
|
130 |
194 |
8.85e-5 |
SMART |
|
IG_like
|
225 |
326 |
2.66e1 |
SMART |
|
transmembrane domain
|
333 |
355 |
N/A |
INTRINSIC |
|
TIR
|
381 |
543 |
4.23e-35 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097772
AA Change: D175G
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000095379
Gene: ENSMUSG00000026069
AA Change: D175G
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
33 |
100 |
7.35e-11 |
SMART |
|
IGc2
|
130 |
194 |
8.85e-5 |
SMART |
|
IG_like
|
225 |
326 |
2.66e1 |
SMART |
|
transmembrane domain
|
333 |
355 |
N/A |
INTRINSIC |
|
TIR
|
381 |
543 |
4.23e-35 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173514
AA Change: D175G
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000133784
Gene: ENSMUSG00000026069
AA Change: D175G
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
33 |
100 |
7.35e-11 |
SMART |
|
IGc2
|
130 |
194 |
8.85e-5 |
SMART |
|
IG_like
|
225 |
326 |
2.66e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173881
|
| SMART Domains |
Protein: ENSMUSP00000134225
Gene: ENSMUSG00000026069
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
PDB:4KC3|B
|
27 |
65 |
4e-16 |
PDB |
|
Blast:IGc2
|
33 |
65 |
2e-17 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174335
AA Change: D175G
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000134351
Gene: ENSMUSG00000026069
AA Change: D175G
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
33 |
100 |
7.35e-11 |
SMART |
|
IGc2
|
130 |
194 |
8.85e-5 |
SMART |
|
IG_like
|
225 |
326 |
2.66e1 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.8%
|
| 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 member of the interleukin 1 receptor family. Studies of the similar gene in mouse suggested that this receptor can be induced by proinflammatory stimuli, and may be involved in the function of helper T cells. This gene, interleukin 1 receptor, type I (IL1R1), interleukin 1 receptor, type II (IL1R2) and interleukin 1 receptor-like 2 (IL1RL2) form a cytokine receptor gene cluster in a region mapped to chromosome 2q12. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display an abnormal Th2 type inflammatory response. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Add2 |
G |
T |
6: 86,073,783 (GRCm39) |
C224F |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,757,818 (GRCm39) |
I837M |
probably damaging |
Het |
| Baat |
T |
C |
4: 49,499,718 (GRCm39) |
Y196C |
probably damaging |
Het |
| Cd19 |
T |
C |
7: 126,013,447 (GRCm39) |
N114S |
probably benign |
Het |
| Cldn24 |
T |
G |
8: 48,275,774 (GRCm39) |
Y199* |
probably null |
Het |
| Kcnh8 |
T |
A |
17: 53,285,067 (GRCm39) |
D1012E |
probably damaging |
Het |
| Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
| Med23 |
T |
G |
10: 24,746,586 (GRCm39) |
D35E |
probably damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,455,638 (GRCm39) |
D2512G |
probably damaging |
Het |
| Nfatc4 |
A |
T |
14: 56,064,461 (GRCm39) |
D246V |
probably damaging |
Het |
| Nlrp9c |
C |
A |
7: 26,077,512 (GRCm39) |
V757F |
probably damaging |
Het |
| Or12e8 |
T |
C |
2: 87,188,298 (GRCm39) |
F170S |
probably damaging |
Het |
| Pcnt |
T |
A |
10: 76,278,460 (GRCm39) |
|
probably benign |
Het |
| Qsox2 |
T |
C |
2: 26,118,445 (GRCm39) |
I109V |
possibly damaging |
Het |
| Rnf17 |
A |
G |
14: 56,743,439 (GRCm39) |
K1335R |
possibly damaging |
Het |
| Serpina6 |
A |
G |
12: 103,620,438 (GRCm39) |
Y104H |
probably benign |
Het |
| Serpini2 |
A |
G |
3: 75,166,997 (GRCm39) |
S87P |
probably damaging |
Het |
| Setx |
G |
A |
2: 29,048,916 (GRCm39) |
V1981M |
probably damaging |
Het |
| Sgpp2 |
T |
C |
1: 78,393,986 (GRCm39) |
F330L |
probably damaging |
Het |
| Slc6a6 |
G |
C |
6: 91,703,177 (GRCm39) |
W183C |
possibly damaging |
Het |
| Ttll9 |
A |
G |
2: 152,826,065 (GRCm39) |
K81E |
probably damaging |
Het |
| Ulbp1 |
G |
A |
10: 7,397,388 (GRCm39) |
T239I |
probably benign |
Het |
| Vmn1r230 |
A |
G |
17: 21,067,492 (GRCm39) |
H227R |
probably damaging |
Het |
| Wdr17 |
A |
T |
8: 55,096,283 (GRCm39) |
F1029I |
probably benign |
Het |
|
| Other mutations in Il1rl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01293:Il1rl1
|
APN |
1 |
40,485,376 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL01413:Il1rl1
|
APN |
1 |
40,485,329 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL01939:Il1rl1
|
APN |
1 |
40,501,168 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02121:Il1rl1
|
APN |
1 |
40,481,463 (GRCm39) |
splice site |
probably benign |
|
|
IGL02160:Il1rl1
|
APN |
1 |
40,500,997 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02695:Il1rl1
|
APN |
1 |
40,485,718 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R0007:Il1rl1
|
UTSW |
1 |
40,485,331 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0105:Il1rl1
|
UTSW |
1 |
40,481,734 (GRCm39) |
splice site |
probably benign |
|
|
R0200:Il1rl1
|
UTSW |
1 |
40,480,463 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0363:Il1rl1
|
UTSW |
1 |
40,481,734 (GRCm39) |
splice site |
probably benign |
|
|
R0508:Il1rl1
|
UTSW |
1 |
40,490,877 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0637:Il1rl1
|
UTSW |
1 |
40,481,734 (GRCm39) |
splice site |
probably benign |
|
|
R0676:Il1rl1
|
UTSW |
1 |
40,481,734 (GRCm39) |
splice site |
probably benign |
|
|
R1371:Il1rl1
|
UTSW |
1 |
40,481,873 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2074:Il1rl1
|
UTSW |
1 |
40,501,204 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2426:Il1rl1
|
UTSW |
1 |
40,485,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3983:Il1rl1
|
UTSW |
1 |
40,485,823 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4601:Il1rl1
|
UTSW |
1 |
40,480,460 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4707:Il1rl1
|
UTSW |
1 |
40,489,348 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4720:Il1rl1
|
UTSW |
1 |
40,485,838 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4784:Il1rl1
|
UTSW |
1 |
40,489,348 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5137:Il1rl1
|
UTSW |
1 |
40,489,285 (GRCm39) |
missense |
probably benign |
|
|
R5765:Il1rl1
|
UTSW |
1 |
40,501,103 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5953:Il1rl1
|
UTSW |
1 |
40,481,833 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6339:Il1rl1
|
UTSW |
1 |
40,501,016 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7176:Il1rl1
|
UTSW |
1 |
40,485,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7677:Il1rl1
|
UTSW |
1 |
40,485,864 (GRCm39) |
makesense |
probably null |
|
|
R8129:Il1rl1
|
UTSW |
1 |
40,490,987 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8670:Il1rl1
|
UTSW |
1 |
40,480,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGTGTCCAACAATTGACCTG -3'
(R):5'- AACCAGAAGTGCACAGGTCTC -3'
Sequencing Primer
(F):5'- GACCTGTATAATTGGACAGCACCTG -3'
(R):5'- AGGTCTCCCTGATTGCATTTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation