Incidental Mutation 'R3432:Il18r1'
ID |
266220 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Il18r1
|
Ensembl Gene |
ENSMUSG00000026070 |
Gene Name |
interleukin 18 receptor 1 |
Synonyms |
Il1rrp, Il18ralpha |
MMRRC Submission |
040650-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3432 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
40504712-40540014 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 40526249 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 265
(T265M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141464
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087983]
[ENSMUST00000108044]
[ENSMUST00000167723]
[ENSMUST00000193391]
[ENSMUST00000193793]
[ENSMUST00000195684]
|
AlphaFold |
Q61098 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000087983
AA Change: T265M
PolyPhen 2
Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000085298 Gene: ENSMUSG00000026070 AA Change: T265M
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
IG
|
25 |
113 |
8.93e-1 |
SMART |
IG_like
|
126 |
204 |
7.06e0 |
SMART |
IG
|
219 |
315 |
3.63e0 |
SMART |
transmembrane domain
|
326 |
348 |
N/A |
INTRINSIC |
TIR
|
371 |
519 |
3.8e-37 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108044
AA Change: T265M
PolyPhen 2
Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000103679 Gene: ENSMUSG00000026070 AA Change: T265M
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
IG
|
25 |
113 |
8.93e-1 |
SMART |
IG_like
|
126 |
204 |
7.06e0 |
SMART |
IG
|
219 |
315 |
3.63e0 |
SMART |
transmembrane domain
|
326 |
348 |
N/A |
INTRINSIC |
TIR
|
371 |
519 |
3.8e-37 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167723
AA Change: T265M
PolyPhen 2
Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000128277 Gene: ENSMUSG00000026070 AA Change: T265M
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
IG
|
25 |
113 |
8.93e-1 |
SMART |
IG_like
|
126 |
204 |
7.06e0 |
SMART |
IG
|
219 |
315 |
3.63e0 |
SMART |
transmembrane domain
|
326 |
348 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193391
AA Change: T265M
PolyPhen 2
Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000141695 Gene: ENSMUSG00000026070 AA Change: T265M
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
IG
|
25 |
113 |
8.93e-1 |
SMART |
IG_like
|
126 |
204 |
7.06e0 |
SMART |
IG
|
219 |
315 |
3.63e0 |
SMART |
transmembrane domain
|
326 |
348 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000193793
AA Change: T265M
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000141464 Gene: ENSMUSG00000026070 AA Change: T265M
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
IG
|
25 |
113 |
3.7e-3 |
SMART |
IG_like
|
132 |
189 |
9.7e-3 |
SMART |
Pfam:Ig_2
|
214 |
263 |
5.2e-1 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000195684
AA Change: T265M
PolyPhen 2
Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000142070 Gene: ENSMUSG00000026070 AA Change: T265M
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
IG
|
25 |
113 |
8.93e-1 |
SMART |
IG_like
|
126 |
204 |
7.06e0 |
SMART |
IG
|
219 |
315 |
3.63e0 |
SMART |
transmembrane domain
|
326 |
348 |
N/A |
INTRINSIC |
TIR
|
371 |
519 |
3.8e-37 |
SMART |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.7%
|
Validation Efficiency |
98% (44/45) |
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 receptor specifically binds interleukin 18 (IL18), and is essential for IL18 mediated signal transduction. IFN-alpha and IL12 are reported to induce the expression of this receptor in NK and T cells. This gene along with four other members of the interleukin 1 receptor family, including IL1R2, IL1R1, ILRL2 (IL-1Rrp2), and IL1RL1 (T1/ST2), form a gene cluster on chromosome 2q. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013] PHENOTYPE: Mice homozygous for disruptions in this gene exhibit impaire Th1 cell development and defective NK cell physiology. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr3 |
G |
A |
1: 125,321,776 (GRCm39) |
P405S |
probably damaging |
Het |
Adamts3 |
A |
G |
5: 89,855,312 (GRCm39) |
|
probably benign |
Het |
Angptl2 |
T |
C |
2: 33,118,814 (GRCm39) |
V196A |
probably benign |
Het |
Aoc1 |
A |
T |
6: 48,882,778 (GRCm39) |
H240L |
probably damaging |
Het |
Arsj |
A |
T |
3: 126,158,624 (GRCm39) |
T68S |
probably benign |
Het |
Atp8b3 |
T |
C |
10: 80,362,014 (GRCm39) |
K708E |
probably benign |
Het |
Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
Ceacam5 |
T |
A |
7: 17,448,901 (GRCm39) |
V89E |
probably benign |
Het |
Cpt1b |
T |
C |
15: 89,307,944 (GRCm39) |
E205G |
possibly damaging |
Het |
Dhrs7c |
C |
T |
11: 67,700,699 (GRCm39) |
T82I |
probably benign |
Het |
Efs |
C |
T |
14: 55,157,681 (GRCm39) |
R117Q |
probably damaging |
Het |
Evl |
T |
C |
12: 108,614,567 (GRCm39) |
|
probably benign |
Het |
Fam89b |
A |
T |
19: 5,781,761 (GRCm39) |
|
probably null |
Het |
Fbxo16 |
T |
C |
14: 65,531,233 (GRCm39) |
F46L |
probably damaging |
Het |
Glp1r |
T |
A |
17: 31,143,531 (GRCm39) |
L189H |
probably damaging |
Het |
Gstp1 |
G |
A |
19: 4,086,695 (GRCm39) |
T110I |
possibly damaging |
Het |
Hbq1a |
T |
G |
11: 32,250,715 (GRCm39) |
S133A |
probably benign |
Het |
Hhipl1 |
A |
G |
12: 108,277,948 (GRCm39) |
E92G |
probably damaging |
Het |
Lpp |
T |
C |
16: 24,708,636 (GRCm39) |
V447A |
probably benign |
Het |
Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
Mfsd13a |
C |
T |
19: 46,360,431 (GRCm39) |
R328C |
probably damaging |
Het |
Mmel1 |
C |
T |
4: 154,969,955 (GRCm39) |
|
probably benign |
Het |
Myo5c |
A |
G |
9: 75,170,283 (GRCm39) |
E471G |
probably damaging |
Het |
Obscn |
A |
G |
11: 58,922,003 (GRCm39) |
L317P |
probably damaging |
Het |
Or8b57 |
A |
T |
9: 40,003,845 (GRCm39) |
M139K |
probably damaging |
Het |
Psg18 |
A |
G |
7: 18,083,096 (GRCm39) |
V232A |
possibly damaging |
Het |
Ptprt |
T |
C |
2: 161,769,449 (GRCm39) |
E472G |
probably damaging |
Het |
Rap2a |
G |
T |
14: 120,741,170 (GRCm39) |
A158S |
possibly damaging |
Het |
Rbm15 |
A |
T |
3: 107,237,993 (GRCm39) |
S802T |
probably benign |
Het |
Sec14l5 |
A |
G |
16: 4,996,463 (GRCm39) |
I470V |
possibly damaging |
Het |
Serpinb1a |
T |
C |
13: 33,026,842 (GRCm39) |
T367A |
possibly damaging |
Het |
Sirpb1a |
A |
G |
3: 15,491,447 (GRCm39) |
W7R |
probably damaging |
Het |
Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
Taf5 |
A |
C |
19: 47,064,272 (GRCm39) |
K405T |
probably damaging |
Het |
Tbc1d19 |
T |
C |
5: 54,005,548 (GRCm39) |
|
probably benign |
Het |
Trim58 |
T |
C |
11: 58,537,787 (GRCm39) |
|
probably benign |
Het |
Tssk4 |
A |
G |
14: 55,889,152 (GRCm39) |
N226S |
probably damaging |
Het |
Uggt1 |
C |
A |
1: 36,249,140 (GRCm39) |
E267* |
probably null |
Het |
Zdhhc23 |
T |
A |
16: 43,794,533 (GRCm39) |
|
probably benign |
Het |
Zfp407 |
G |
A |
18: 84,226,871 (GRCm39) |
A2246V |
probably damaging |
Het |
Zfp872 |
C |
T |
9: 22,111,750 (GRCm39) |
R410* |
probably null |
Het |
|
Other mutations in Il18r1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00429:Il18r1
|
APN |
1 |
40,537,812 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL00742:Il18r1
|
APN |
1 |
40,520,151 (GRCm39) |
missense |
probably benign |
0.11 |
IGL01448:Il18r1
|
APN |
1 |
40,513,890 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01726:Il18r1
|
APN |
1 |
40,537,563 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL02081:Il18r1
|
APN |
1 |
40,537,665 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02425:Il18r1
|
APN |
1 |
40,530,381 (GRCm39) |
splice site |
probably benign |
|
IGL02447:Il18r1
|
APN |
1 |
40,537,497 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02529:Il18r1
|
APN |
1 |
40,526,219 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL02863:Il18r1
|
APN |
1 |
40,526,167 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02928:Il18r1
|
APN |
1 |
40,517,711 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02941:Il18r1
|
APN |
1 |
40,537,711 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03156:Il18r1
|
APN |
1 |
40,537,528 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0532:Il18r1
|
UTSW |
1 |
40,514,061 (GRCm39) |
missense |
probably damaging |
0.97 |
R0926:Il18r1
|
UTSW |
1 |
40,526,188 (GRCm39) |
missense |
probably damaging |
1.00 |
R1909:Il18r1
|
UTSW |
1 |
40,514,074 (GRCm39) |
missense |
probably damaging |
1.00 |
R2212:Il18r1
|
UTSW |
1 |
40,530,227 (GRCm39) |
missense |
probably damaging |
1.00 |
R2254:Il18r1
|
UTSW |
1 |
40,530,380 (GRCm39) |
missense |
possibly damaging |
0.91 |
R2860:Il18r1
|
UTSW |
1 |
40,537,717 (GRCm39) |
missense |
possibly damaging |
0.49 |
R2861:Il18r1
|
UTSW |
1 |
40,537,717 (GRCm39) |
missense |
possibly damaging |
0.49 |
R2862:Il18r1
|
UTSW |
1 |
40,537,717 (GRCm39) |
missense |
possibly damaging |
0.49 |
R3412:Il18r1
|
UTSW |
1 |
40,530,227 (GRCm39) |
missense |
probably damaging |
1.00 |
R3718:Il18r1
|
UTSW |
1 |
40,534,948 (GRCm39) |
missense |
probably benign |
0.00 |
R3816:Il18r1
|
UTSW |
1 |
40,526,132 (GRCm39) |
splice site |
probably benign |
|
R3894:Il18r1
|
UTSW |
1 |
40,514,034 (GRCm39) |
missense |
possibly damaging |
0.79 |
R4061:Il18r1
|
UTSW |
1 |
40,514,096 (GRCm39) |
missense |
probably benign |
0.33 |
R4062:Il18r1
|
UTSW |
1 |
40,514,096 (GRCm39) |
missense |
probably benign |
0.33 |
R4381:Il18r1
|
UTSW |
1 |
40,510,950 (GRCm39) |
missense |
probably benign |
0.00 |
R4972:Il18r1
|
UTSW |
1 |
40,530,224 (GRCm39) |
missense |
probably benign |
0.39 |
R5059:Il18r1
|
UTSW |
1 |
40,520,227 (GRCm39) |
critical splice donor site |
probably null |
|
R6229:Il18r1
|
UTSW |
1 |
40,513,923 (GRCm39) |
missense |
probably benign |
0.02 |
R6458:Il18r1
|
UTSW |
1 |
40,530,342 (GRCm39) |
nonsense |
probably null |
|
R6505:Il18r1
|
UTSW |
1 |
40,528,867 (GRCm39) |
missense |
probably benign |
|
R6738:Il18r1
|
UTSW |
1 |
40,537,816 (GRCm39) |
missense |
probably benign |
0.06 |
R7002:Il18r1
|
UTSW |
1 |
40,514,013 (GRCm39) |
missense |
probably benign |
0.39 |
R7317:Il18r1
|
UTSW |
1 |
40,513,992 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7485:Il18r1
|
UTSW |
1 |
40,520,140 (GRCm39) |
missense |
probably benign |
0.01 |
R7510:Il18r1
|
UTSW |
1 |
40,514,035 (GRCm39) |
missense |
probably benign |
0.03 |
R7515:Il18r1
|
UTSW |
1 |
40,537,830 (GRCm39) |
missense |
not run |
|
R7526:Il18r1
|
UTSW |
1 |
40,510,932 (GRCm39) |
missense |
probably damaging |
0.99 |
R7793:Il18r1
|
UTSW |
1 |
40,510,924 (GRCm39) |
missense |
probably benign |
0.01 |
R7870:Il18r1
|
UTSW |
1 |
40,530,296 (GRCm39) |
missense |
probably benign |
0.45 |
R8004:Il18r1
|
UTSW |
1 |
40,513,917 (GRCm39) |
missense |
probably damaging |
1.00 |
R8063:Il18r1
|
UTSW |
1 |
40,526,198 (GRCm39) |
missense |
probably benign |
0.10 |
R8836:Il18r1
|
UTSW |
1 |
40,535,016 (GRCm39) |
missense |
probably benign |
0.15 |
R9304:Il18r1
|
UTSW |
1 |
40,510,893 (GRCm39) |
start gained |
probably benign |
|
R9502:Il18r1
|
UTSW |
1 |
40,528,852 (GRCm39) |
missense |
probably benign |
0.01 |
R9507:Il18r1
|
UTSW |
1 |
40,513,884 (GRCm39) |
missense |
probably damaging |
0.99 |
R9559:Il18r1
|
UTSW |
1 |
40,528,793 (GRCm39) |
missense |
probably benign |
0.01 |
X0023:Il18r1
|
UTSW |
1 |
40,510,921 (GRCm39) |
missense |
probably benign |
0.04 |
X0064:Il18r1
|
UTSW |
1 |
40,534,873 (GRCm39) |
splice site |
probably null |
|
Z1088:Il18r1
|
UTSW |
1 |
40,517,646 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1088:Il18r1
|
UTSW |
1 |
40,513,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCTTGGTTTAAAATGAAGCAC -3'
(R):5'- CAGCAAATGTCCTCATGATTGATTGG -3'
Sequencing Primer
(F):5'- GCACACACTGATTGTATTTTGAAAC -3'
(R):5'- TGATGATGGTAAGCAAATTG -3'
|
Posted On |
2015-02-18 |