Incidental Mutation 'R7870:Il18r1'
| ID |
608024 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il18r1
|
| Ensembl Gene |
ENSMUSG00000026070 |
| Gene Name |
interleukin 18 receptor 1 |
| Synonyms |
Il1rrp, Il18ralpha |
| MMRRC Submission |
045922-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7870 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
40504712-40540014 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 40530296 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 341
(I341K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128277
(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: I341K
PolyPhen 2
Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000085298
Gene: ENSMUSG00000026070
AA Change: I341K
| 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: I341K
PolyPhen 2
Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000103679
Gene: ENSMUSG00000026070
AA Change: I341K
| 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: I341K
PolyPhen 2
Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000128277
Gene: ENSMUSG00000026070
AA Change: I341K
| 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: I341K
PolyPhen 2
Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000141695
Gene: ENSMUSG00000026070
AA Change: I341K
| 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
|
| SMART Domains |
Protein: ENSMUSP00000141464
Gene: ENSMUSG00000026070
| 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: I341K
PolyPhen 2
Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000142070
Gene: ENSMUSG00000026070
AA Change: I341K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
T |
A |
10: 100,441,505 (GRCm39) |
F171L |
probably benign |
Het |
| 2410137M14Rik |
A |
T |
17: 37,288,909 (GRCm39) |
C152S |
unknown |
Het |
| Alb |
T |
C |
5: 90,620,488 (GRCm39) |
F533L |
possibly damaging |
Het |
| Alox12b |
T |
C |
11: 69,060,135 (GRCm39) |
M616T |
possibly damaging |
Het |
| Atxn2l |
A |
G |
7: 126,091,924 (GRCm39) |
F968L |
probably benign |
Het |
| Cadps2 |
G |
T |
6: 23,263,641 (GRCm39) |
H1227Q |
probably benign |
Het |
| Cdh18 |
A |
T |
15: 23,474,413 (GRCm39) |
D761V |
possibly damaging |
Het |
| Cdkl3 |
T |
C |
11: 51,909,284 (GRCm39) |
|
probably null |
Het |
| Chrdl2 |
T |
C |
7: 99,659,249 (GRCm39) |
L9P |
unknown |
Het |
| Ctr9 |
A |
G |
7: 110,651,618 (GRCm39) |
E946G |
unknown |
Het |
| Cygb |
T |
A |
11: 116,540,116 (GRCm39) |
T178S |
probably benign |
Het |
| Cyp2c67 |
A |
C |
19: 39,597,669 (GRCm39) |
M443R |
probably damaging |
Het |
| Dnah12 |
A |
G |
14: 26,578,486 (GRCm39) |
T3082A |
probably benign |
Het |
| Flnc |
C |
T |
6: 29,454,306 (GRCm39) |
T1906I |
probably damaging |
Het |
| Gm14496 |
A |
G |
2: 181,637,906 (GRCm39) |
I327V |
probably benign |
Het |
| Gm29106 |
T |
A |
1: 118,126,885 (GRCm39) |
N192K |
possibly damaging |
Het |
| H3f3a |
A |
T |
1: 180,639,490 (GRCm39) |
M1K |
probably null |
Het |
| Htt |
T |
A |
5: 35,055,891 (GRCm39) |
W2601R |
possibly damaging |
Het |
| Kcnj1 |
G |
A |
9: 32,307,881 (GRCm39) |
V102I |
probably benign |
Het |
| Lrp3 |
C |
A |
7: 34,910,922 (GRCm39) |
G41V |
probably damaging |
Het |
| Lrrc9 |
G |
T |
12: 72,532,964 (GRCm39) |
K944N |
probably damaging |
Het |
| Mettl21e |
T |
A |
1: 44,249,371 (GRCm39) |
E95V |
probably damaging |
Het |
| Mib1 |
G |
A |
18: 10,798,446 (GRCm39) |
R769Q |
possibly damaging |
Het |
| Myh7 |
C |
G |
14: 55,226,258 (GRCm39) |
D461H |
probably damaging |
Het |
| Mymk |
A |
G |
2: 26,952,298 (GRCm39) |
S190P |
probably damaging |
Het |
| Neb |
G |
A |
2: 52,215,761 (GRCm39) |
P182L |
probably damaging |
Het |
| Nfil3 |
A |
G |
13: 53,122,449 (GRCm39) |
Y152H |
probably damaging |
Het |
| Nisch |
A |
G |
14: 30,894,052 (GRCm39) |
Y1174H |
probably damaging |
Het |
| Nyap1 |
G |
C |
5: 137,733,658 (GRCm39) |
Y458* |
probably null |
Het |
| Or4d5 |
A |
C |
9: 40,011,973 (GRCm39) |
V271G |
possibly damaging |
Het |
| Or52z13 |
T |
A |
7: 103,247,473 (GRCm39) |
C317S |
probably damaging |
Het |
| Or5h17 |
G |
A |
16: 58,820,086 (GRCm39) |
V13I |
probably benign |
Het |
| Pars2 |
T |
A |
4: 106,511,276 (GRCm39) |
Y353N |
probably damaging |
Het |
| Patj |
G |
T |
4: 98,312,553 (GRCm39) |
G297V |
probably damaging |
Het |
| Pcdh9 |
A |
T |
14: 94,124,693 (GRCm39) |
S492R |
probably damaging |
Het |
| Pcyox1 |
G |
A |
6: 86,369,323 (GRCm39) |
R168C |
probably damaging |
Het |
| Plbd1 |
A |
T |
6: 136,594,326 (GRCm39) |
Y308N |
possibly damaging |
Het |
| Rax |
A |
G |
18: 66,071,284 (GRCm39) |
V117A |
probably benign |
Het |
| Rdh9 |
C |
A |
10: 127,612,566 (GRCm39) |
N71K |
probably benign |
Het |
| Sap130 |
A |
G |
18: 31,853,714 (GRCm39) |
N968S |
probably benign |
Het |
| Sema5a |
A |
T |
15: 32,609,485 (GRCm39) |
I464F |
probably benign |
Het |
| Sez6l |
T |
G |
5: 112,586,447 (GRCm39) |
D683A |
probably damaging |
Het |
| Slit2 |
C |
A |
5: 48,459,649 (GRCm39) |
P1310T |
probably damaging |
Het |
| Snap47 |
T |
C |
11: 59,328,904 (GRCm39) |
M133V |
probably benign |
Het |
| Son |
TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC |
TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC |
16: 91,453,486 (GRCm39) |
|
probably benign |
Het |
| Srcap |
G |
A |
7: 127,159,730 (GRCm39) |
S3202N |
unknown |
Het |
| Ssh2 |
T |
C |
11: 77,344,441 (GRCm39) |
W809R |
probably benign |
Het |
| Stau1 |
G |
T |
2: 166,792,870 (GRCm39) |
A365D |
possibly damaging |
Het |
| Tfpi2 |
A |
G |
6: 3,968,281 (GRCm39) |
L15P |
probably damaging |
Het |
| Thbs1 |
A |
T |
2: 117,945,508 (GRCm39) |
N329I |
possibly damaging |
Het |
| Tmem65 |
A |
T |
15: 58,659,010 (GRCm39) |
D184E |
probably damaging |
Het |
| Trpm6 |
G |
T |
19: 18,792,605 (GRCm39) |
E676D |
probably benign |
Het |
| Vdr |
T |
G |
15: 97,782,771 (GRCm39) |
D17A |
possibly damaging |
Het |
| Vmn1r123 |
C |
T |
7: 20,896,192 (GRCm39) |
T28I |
probably damaging |
Het |
| Wdr90 |
A |
G |
17: 26,079,513 (GRCm39) |
L207P |
probably damaging |
Het |
| Zfp354c |
TGTCACACTCG |
TG |
11: 50,706,065 (GRCm39) |
|
probably benign |
Het |
| Zfp598 |
A |
G |
17: 24,898,304 (GRCm39) |
E402G |
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 |
|
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 |
|
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'- TGTCTGTCAAGGGCAAGAAC -3'
(R):5'- AGGCTCAGAGATCATTAGTGGG -3'
Sequencing Primer
(F):5'- TGCCAGAACTCTAAAATGCCAG -3'
(R):5'- CTCAGAGATCATTAGTGGGATCATTC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation