Incidental Mutation 'R3816:Il18r1'
ID 274275
Institutional Source Beutler Lab
Gene Symbol Il18r1
Ensembl Gene ENSMUSG00000026070
Gene Name interleukin 18 receptor 1
Synonyms Il1rrp, Il18ralpha
MMRRC Submission 040881-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3816 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 40504712-40540014 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 40526132 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142070 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087983] [ENSMUST00000108044] [ENSMUST00000167723] [ENSMUST00000193391] [ENSMUST00000193793] [ENSMUST00000195684]
AlphaFold Q61098
Predicted Effect probably benign
Transcript: ENSMUST00000087983
SMART Domains Protein: ENSMUSP00000085298
Gene: ENSMUSG00000026070

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000103679
Gene: ENSMUSG00000026070

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000128277
Gene: ENSMUSG00000026070

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000141695
Gene: ENSMUSG00000026070

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000142070
Gene: ENSMUSG00000026070

DomainStartEndE-ValueType
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 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.2%
Validation Efficiency 100% (62/62)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T C 6: 86,936,024 (GRCm39) probably benign Het
Abca2 A G 2: 25,336,083 (GRCm39) Y2151C probably damaging Het
Adamts3 T A 5: 89,853,123 (GRCm39) H509L probably damaging Het
Agfg2 T C 5: 137,652,036 (GRCm39) D441G probably benign Het
Arl8b T A 6: 108,790,658 (GRCm39) V65D probably damaging Het
As3mt A T 19: 46,696,216 (GRCm39) D8V probably benign Het
Ass1 G T 2: 31,400,117 (GRCm39) probably benign Het
Cdc42bpa A G 1: 179,972,451 (GRCm39) I634V possibly damaging Het
Cflar T C 1: 58,791,582 (GRCm39) V298A probably benign Het
Csmd1 C T 8: 16,052,522 (GRCm39) A2201T probably damaging Het
Cyp4a12b A T 4: 115,289,667 (GRCm39) D178V probably damaging Het
Dlec1 C T 9: 118,953,911 (GRCm39) A610V probably damaging Het
Dock1 C T 7: 134,346,015 (GRCm39) R186* probably null Het
E130018O15Rik T C 5: 35,540,110 (GRCm39) noncoding transcript Het
Gabrg3 G A 7: 57,031,412 (GRCm39) Q43* probably null Het
Gipc2 T C 3: 151,871,481 (GRCm39) K15R probably benign Het
Gjb2 A G 14: 57,337,530 (GRCm39) V226A probably benign Het
Glipr2 G T 4: 43,977,522 (GRCm39) A51S possibly damaging Het
Gsdme A C 6: 50,196,391 (GRCm39) S340A probably benign Het
H2-M10.2 A T 17: 36,597,254 (GRCm39) Y20* probably null Het
Hapstr1 T A 16: 8,648,358 (GRCm39) I12N probably damaging Het
Hlcs A G 16: 93,933,947 (GRCm39) V242A probably benign Het
Ifi44 T C 3: 151,454,894 (GRCm39) I110M possibly damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Khk T C 5: 31,084,060 (GRCm39) S80P probably damaging Het
Ly9 G T 1: 171,416,653 (GRCm39) T537N possibly damaging Het
Muc4 C A 16: 32,754,529 (GRCm38) H1468N probably benign Het
Myo1g A G 11: 6,460,926 (GRCm39) V706A probably benign Het
Npat T C 9: 53,481,216 (GRCm39) S1008P probably damaging Het
Or2ag18 A G 7: 106,405,027 (GRCm39) I214T probably damaging Het
Or5p59 A G 7: 107,702,705 (GRCm39) Y63C possibly damaging Het
Or8b12c C T 9: 37,715,465 (GRCm39) S86L probably benign Het
Or8b40 A T 9: 38,027,922 (GRCm39) T277S possibly damaging Het
Or8b55 A G 9: 38,727,722 (GRCm39) K308E possibly damaging Het
Pcdha2 A G 18: 37,074,748 (GRCm39) Y793C probably benign Het
Pcdhb4 A T 18: 37,441,065 (GRCm39) D125V probably damaging Het
Pdgfrb A G 18: 61,212,017 (GRCm39) D844G probably damaging Het
Phf3 T C 1: 30,844,834 (GRCm39) D1375G probably damaging Het
Pigu A T 2: 155,141,063 (GRCm39) F276I probably damaging Het
Pomgnt1 T A 4: 116,011,139 (GRCm39) probably null Het
Psmd9 C T 5: 123,372,653 (GRCm39) probably benign Het
Rac2 T C 15: 78,450,199 (GRCm39) D47G possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sall1 G T 8: 89,759,303 (GRCm39) A267E probably benign Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Serpina3k A G 12: 104,307,221 (GRCm39) E151G probably benign Het
Skint5 A G 4: 113,486,319 (GRCm39) probably benign Het
Slc51b A G 9: 65,321,300 (GRCm39) probably benign Het
Sorl1 A G 9: 41,975,345 (GRCm39) L487P possibly damaging Het
Sspo A T 6: 48,458,037 (GRCm39) E3269V possibly damaging Het
Star G A 8: 26,299,905 (GRCm39) M82I probably benign Het
Tnfrsf11a C T 1: 105,737,085 (GRCm39) T64I probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Usp32 A G 11: 84,885,210 (GRCm39) probably null Het
Vmn2r18 T C 5: 151,485,148 (GRCm39) N782S probably benign Het
Vwa3a A G 7: 120,399,602 (GRCm39) T1028A probably benign Het
Xrn2 G A 2: 146,870,120 (GRCm39) G270R probably damaging Het
Zbbx G T 3: 74,992,802 (GRCm39) Q231K probably benign Het
Other mutations in Il18r1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CCCTGTGCAGCAATGATTTTC -3'
(R):5'- TTTTACAGCACGCACCAAGG -3'

Sequencing Primer
(F):5'- TGCAGCAATGATTTTCTTATTTTAGG -3'
(R):5'- AAGGCATCTCTCGCATGTCAC -3'
Posted On 2015-04-02