Incidental Mutation 'R4062:Il18r1'
ID |
315886 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Il18r1
|
Ensembl Gene |
ENSMUSG00000026070 |
Gene Name |
interleukin 18 receptor 1 |
Synonyms |
Il1rrp, Il18ralpha |
MMRRC Submission |
040971-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4062 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
40504712-40540014 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 40514096 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 101
(V101I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141695
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087983]
[ENSMUST00000108044]
[ENSMUST00000167723]
[ENSMUST00000193391]
[ENSMUST00000193793]
[ENSMUST00000195684]
|
AlphaFold |
Q61098 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000087983
AA Change: V101I
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000085298 Gene: ENSMUSG00000026070 AA Change: V101I
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: ENSMUST00000108044
AA Change: V101I
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000103679 Gene: ENSMUSG00000026070 AA Change: V101I
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: V101I
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000128277 Gene: ENSMUSG00000026070 AA Change: V101I
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: V101I
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000141695 Gene: ENSMUSG00000026070 AA Change: V101I
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: ENSMUST00000193793
AA Change: V101I
PolyPhen 2
Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000141464 Gene: ENSMUSG00000026070 AA Change: V101I
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 |
probably benign
Transcript: ENSMUST00000195684
AA Change: V101I
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000142070 Gene: ENSMUSG00000026070 AA Change: V101I
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.8%
|
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 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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700019A02Rik |
A |
T |
1: 53,197,928 (GRCm39) |
L140Q |
probably damaging |
Het |
Adam17 |
T |
C |
12: 21,375,458 (GRCm39) |
D787G |
probably damaging |
Het |
Adamtsl4 |
T |
C |
3: 95,584,864 (GRCm39) |
K935E |
probably benign |
Het |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Bnip3l |
T |
C |
14: 67,246,187 (GRCm39) |
N16S |
possibly damaging |
Het |
Cd320 |
T |
A |
17: 34,066,491 (GRCm39) |
N90K |
probably benign |
Het |
Cdc40 |
A |
T |
10: 40,725,848 (GRCm39) |
|
probably null |
Het |
Clec4b1 |
C |
A |
6: 123,045,443 (GRCm39) |
H55N |
probably benign |
Het |
Cyp4a10 |
A |
T |
4: 115,376,898 (GRCm39) |
R87S |
probably benign |
Het |
Duoxa2 |
G |
T |
2: 122,131,058 (GRCm39) |
S73I |
probably damaging |
Het |
Dytn |
A |
G |
1: 63,686,606 (GRCm39) |
C355R |
probably benign |
Het |
Emilin3 |
T |
C |
2: 160,749,716 (GRCm39) |
T631A |
probably benign |
Het |
Ep400 |
A |
T |
5: 110,889,847 (GRCm39) |
M472K |
probably benign |
Het |
Erap1 |
G |
T |
13: 74,811,655 (GRCm39) |
M338I |
probably benign |
Het |
Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
Fanca |
T |
C |
8: 124,001,911 (GRCm39) |
T1061A |
probably benign |
Het |
Fat1 |
A |
T |
8: 45,478,518 (GRCm39) |
E2521D |
probably benign |
Het |
Gcdh |
T |
C |
8: 85,619,082 (GRCm39) |
I152V |
probably damaging |
Het |
Gls |
T |
C |
1: 52,235,907 (GRCm39) |
K403E |
probably damaging |
Het |
Gorasp2 |
T |
C |
2: 70,509,857 (GRCm39) |
C173R |
probably damaging |
Het |
Greb1l |
G |
A |
18: 10,522,150 (GRCm39) |
V749I |
probably damaging |
Het |
Hnrnpll |
T |
C |
17: 80,340,201 (GRCm39) |
H526R |
probably benign |
Het |
Incenp |
A |
T |
19: 9,861,142 (GRCm39) |
M480K |
unknown |
Het |
Isl1 |
T |
A |
13: 116,439,626 (GRCm39) |
I241F |
probably benign |
Het |
Kdm6a |
A |
G |
X: 18,117,114 (GRCm39) |
T266A |
probably benign |
Het |
Lcp1 |
T |
C |
14: 75,452,620 (GRCm39) |
V442A |
probably damaging |
Het |
Mast3 |
A |
G |
8: 71,233,838 (GRCm39) |
V969A |
probably damaging |
Het |
Mbnl1 |
T |
C |
3: 60,511,176 (GRCm39) |
L136P |
probably damaging |
Het |
Mrps24 |
G |
A |
11: 5,654,676 (GRCm39) |
R93* |
probably null |
Het |
Nkd2 |
C |
T |
13: 73,970,809 (GRCm39) |
G258R |
probably null |
Het |
Obscn |
T |
C |
11: 58,973,536 (GRCm39) |
T1932A |
probably damaging |
Het |
Otop2 |
G |
A |
11: 115,220,201 (GRCm39) |
G347D |
probably damaging |
Het |
Plagl1 |
TGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCC |
TGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCC |
10: 13,004,515 (GRCm39) |
|
probably benign |
Het |
Ptpn18 |
A |
T |
1: 34,512,011 (GRCm39) |
H45L |
possibly damaging |
Het |
Rab3il1 |
T |
C |
19: 10,003,988 (GRCm39) |
S36P |
probably benign |
Het |
Rims1 |
G |
T |
1: 22,572,664 (GRCm39) |
N512K |
probably benign |
Het |
Rinl |
T |
C |
7: 28,490,140 (GRCm39) |
Y60H |
probably benign |
Het |
Scamp2 |
G |
T |
9: 57,484,545 (GRCm39) |
|
probably null |
Het |
Septin9 |
T |
C |
11: 117,243,091 (GRCm39) |
S324P |
probably damaging |
Het |
Sh3pxd2b |
G |
T |
11: 32,372,263 (GRCm39) |
A477S |
probably benign |
Het |
Soat2 |
A |
G |
15: 102,069,526 (GRCm39) |
T396A |
possibly damaging |
Het |
Tenm2 |
C |
T |
11: 35,899,482 (GRCm39) |
G2559S |
probably damaging |
Het |
Tpcn1 |
G |
A |
5: 120,695,962 (GRCm39) |
A97V |
possibly damaging |
Het |
Trdn |
A |
G |
10: 33,133,083 (GRCm39) |
E311G |
probably benign |
Het |
Usp13 |
T |
C |
3: 32,935,572 (GRCm39) |
Y333H |
probably damaging |
Het |
Usp18 |
A |
G |
6: 121,238,326 (GRCm39) |
T158A |
probably benign |
Het |
Vmn1r118 |
G |
T |
7: 20,645,933 (GRCm39) |
Q114K |
probably damaging |
Het |
Wwp1 |
A |
T |
4: 19,638,644 (GRCm39) |
N566K |
possibly damaging |
Het |
Zfp292 |
A |
G |
4: 34,810,863 (GRCm39) |
V727A |
probably damaging |
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 |
R3432:Il18r1
|
UTSW |
1 |
40,526,249 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
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'- TTCATGTGGTAGAGGGAGAACC -3'
(R):5'- AGTCCCTGCAAAGGAAATCTC -3'
Sequencing Primer
(F):5'- GGGAGAACCTTTTTATCTGAAGCC -3'
(R):5'- TCCCTGCAAAGGAAATCTCATTAATC -3'
|
Posted On |
2015-05-15 |