Incidental Mutation 'R2862:Il18r1'
| ID |
252881 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il18r1
|
| Ensembl Gene |
ENSMUSG00000026070 |
| Gene Name |
interleukin 18 receptor 1 |
| Synonyms |
Il1rrp, Il18ralpha |
| MMRRC Submission |
040452-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2862 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
40504712-40540014 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 40537717 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 494
(V494A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142070
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087983]
[ENSMUST00000108044]
[ENSMUST00000195684]
|
| AlphaFold |
Q61098 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000087983
AA Change: V494A
PolyPhen 2
Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000085298
Gene: ENSMUSG00000026070
AA Change: V494A
| 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: V494A
PolyPhen 2
Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000103679
Gene: ENSMUSG00000026070
AA Change: V494A
| 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: ENSMUST00000195684
AA Change: V494A
PolyPhen 2
Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000142070
Gene: ENSMUSG00000026070
AA Change: V494A
| 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 |
0.1523 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,259,057 (GRCm39) |
S2928G |
probably damaging |
Het |
| Abcd1 |
T |
A |
X: 72,781,064 (GRCm39) |
L713H |
probably damaging |
Het |
| Actg1 |
T |
C |
11: 120,237,627 (GRCm39) |
I52V |
probably benign |
Het |
| Ahi1 |
T |
A |
10: 20,857,307 (GRCm39) |
V634E |
probably damaging |
Het |
| Ang |
G |
T |
14: 51,339,275 (GRCm39) |
D139Y |
probably damaging |
Het |
| Apoe |
T |
C |
7: 19,431,479 (GRCm39) |
Y46C |
probably damaging |
Het |
| Aqr |
A |
T |
2: 113,967,398 (GRCm39) |
V539D |
probably damaging |
Het |
| Btg3 |
A |
G |
16: 78,161,868 (GRCm39) |
V114A |
probably damaging |
Het |
| Cap1 |
A |
T |
4: 122,758,518 (GRCm39) |
S221T |
probably benign |
Het |
| Ccdc121 |
G |
A |
5: 31,643,255 (GRCm39) |
|
probably benign |
Het |
| Cdca2 |
T |
C |
14: 67,935,539 (GRCm39) |
E392G |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Col22a1 |
A |
G |
15: 71,687,792 (GRCm39) |
|
probably null |
Het |
| Cyp2c38 |
G |
A |
19: 39,449,138 (GRCm39) |
R72W |
probably benign |
Het |
| Dnah1 |
C |
T |
14: 31,006,719 (GRCm39) |
G2199S |
probably benign |
Het |
| Dnhd1 |
A |
G |
7: 105,361,766 (GRCm39) |
E3608G |
probably benign |
Het |
| Ears2 |
A |
T |
7: 121,662,163 (GRCm39) |
L95Q |
probably damaging |
Het |
| F5 |
A |
T |
1: 164,012,533 (GRCm39) |
K482N |
probably damaging |
Het |
| Gata5 |
C |
T |
2: 179,976,129 (GRCm39) |
G12S |
possibly damaging |
Het |
| Gm11938 |
C |
A |
11: 99,493,972 (GRCm39) |
R41L |
probably damaging |
Het |
| Grap2 |
A |
T |
15: 80,532,165 (GRCm39) |
Q260L |
probably damaging |
Het |
| Greb1 |
A |
G |
12: 16,761,746 (GRCm39) |
S545P |
probably benign |
Het |
| Iglc1 |
T |
C |
16: 18,880,660 (GRCm39) |
|
probably benign |
Het |
| Kdf1 |
G |
A |
4: 133,255,852 (GRCm39) |
E190K |
probably damaging |
Het |
| Lama2 |
G |
A |
10: 27,298,608 (GRCm39) |
Q163* |
probably null |
Het |
| Lama3 |
G |
T |
18: 12,586,807 (GRCm39) |
L723F |
probably damaging |
Het |
| Lamp5 |
A |
T |
2: 135,900,866 (GRCm39) |
H22L |
probably benign |
Het |
| Maged1 |
G |
A |
X: 93,582,530 (GRCm39) |
P366S |
probably damaging |
Het |
| Med14 |
A |
G |
X: 12,585,936 (GRCm39) |
I521T |
probably benign |
Het |
| Mia2 |
A |
G |
12: 59,201,196 (GRCm39) |
K841E |
probably damaging |
Het |
| Mrgbp |
G |
A |
2: 180,225,203 (GRCm39) |
R53Q |
possibly damaging |
Het |
| Mrps18b |
G |
A |
17: 36,221,746 (GRCm39) |
S101L |
probably benign |
Het |
| Nmnat2 |
G |
A |
1: 152,988,171 (GRCm39) |
V267I |
probably benign |
Het |
| Noc2l |
A |
G |
4: 156,321,907 (GRCm39) |
D102G |
probably benign |
Het |
| Ntn1 |
T |
C |
11: 68,276,690 (GRCm39) |
E86G |
probably benign |
Het |
| Opn4 |
A |
G |
14: 34,315,785 (GRCm39) |
|
probably null |
Het |
| Or2d2b |
T |
A |
7: 106,705,675 (GRCm39) |
H131L |
probably benign |
Het |
| Or4c109 |
A |
T |
2: 88,817,664 (GRCm39) |
I294K |
probably benign |
Het |
| Or52n1 |
A |
G |
7: 104,383,425 (GRCm39) |
F49L |
probably benign |
Het |
| Or6k6 |
A |
G |
1: 173,945,298 (GRCm39) |
Y95H |
probably damaging |
Het |
| Pate3 |
T |
A |
9: 35,559,415 (GRCm39) |
M1L |
possibly damaging |
Het |
| Pex2 |
A |
G |
3: 5,626,240 (GRCm39) |
Y190H |
probably damaging |
Het |
| Pkhd1l1 |
A |
C |
15: 44,404,267 (GRCm39) |
T2299P |
probably damaging |
Het |
| Ppp6r3 |
A |
C |
19: 3,571,782 (GRCm39) |
S122R |
possibly damaging |
Het |
| Pwwp3b |
G |
A |
X: 138,137,429 (GRCm39) |
G656S |
possibly damaging |
Het |
| Rnf113a1 |
A |
G |
X: 36,455,736 (GRCm39) |
E231G |
probably damaging |
Het |
| Rnf41 |
T |
C |
10: 128,274,023 (GRCm39) |
L225P |
possibly damaging |
Het |
| Rreb1 |
G |
C |
13: 38,116,429 (GRCm39) |
A1263P |
probably benign |
Het |
| Rxfp1 |
A |
G |
3: 79,589,778 (GRCm39) |
V121A |
possibly damaging |
Het |
| Slc35e4 |
A |
T |
11: 3,862,796 (GRCm39) |
V131D |
probably damaging |
Het |
| Smyd4 |
T |
A |
11: 75,280,962 (GRCm39) |
M145K |
probably benign |
Het |
| Snx13 |
T |
A |
12: 35,188,116 (GRCm39) |
I798N |
probably benign |
Het |
| Srgap3 |
A |
T |
6: 112,699,933 (GRCm39) |
F1015Y |
probably damaging |
Het |
| Synj1 |
T |
C |
16: 90,766,217 (GRCm39) |
Y567C |
probably damaging |
Het |
| Tbc1d8 |
G |
A |
1: 39,441,777 (GRCm39) |
Q272* |
probably null |
Het |
| Tinf2 |
T |
C |
14: 55,918,088 (GRCm39) |
D127G |
probably damaging |
Het |
| Ube2v1 |
G |
A |
2: 167,459,885 (GRCm39) |
P39L |
probably damaging |
Het |
| Vegfd |
A |
G |
X: 163,168,879 (GRCm39) |
E57G |
probably damaging |
Het |
| Vmn2r72 |
A |
T |
7: 85,400,044 (GRCm39) |
I335N |
probably damaging |
Het |
| Zc3h6 |
A |
G |
2: 128,857,380 (GRCm39) |
H633R |
probably benign |
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 |
|
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 |
|
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'- AGGCTAATCATCGTTCTCAGC -3'
(R):5'- CTTTTGAACCACAGCTACCGC -3'
Sequencing Primer
(F):5'- GCTAATCATCGTTCTCAGCCAGAG -3'
(R):5'- TACCGCTGTGAATAGGCAC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation