Incidental Mutation 'R7526:Il18r1'
ID 582954
Institutional Source Beutler Lab
Gene Symbol Il18r1
Ensembl Gene ENSMUSG00000026070
Gene Name interleukin 18 receptor 1
Synonyms Il1rrp, Il18ralpha
MMRRC Submission 045598-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7526 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 40504712-40540014 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 40510932 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Isoleucine at position 6 (L6I)
Ref Sequence ENSEMBL: ENSMUSP00000128277 (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: L6I

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000085298
Gene: ENSMUSG00000026070
AA Change: L6I

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 possibly damaging
Transcript: ENSMUST00000108044
AA Change: L6I

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000103679
Gene: ENSMUSG00000026070
AA Change: L6I

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 damaging
Transcript: ENSMUST00000167723
AA Change: L6I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000128277
Gene: ENSMUSG00000026070
AA Change: L6I

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 damaging
Transcript: ENSMUST00000193391
AA Change: L6I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141695
Gene: ENSMUSG00000026070
AA Change: L6I

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 possibly damaging
Transcript: ENSMUST00000193793
AA Change: L6I

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000141464
Gene: ENSMUSG00000026070
AA Change: L6I

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 possibly damaging
Transcript: ENSMUST00000195684
AA Change: L6I

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000142070
Gene: ENSMUSG00000026070
AA Change: L6I

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (74/74)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700086D15Rik A T 11: 65,043,807 (GRCm39) F85I unknown Het
Ankrd22 A T 19: 34,126,765 (GRCm39) W22R possibly damaging Het
Aqr A T 2: 113,938,590 (GRCm39) H1287Q probably damaging Het
Armh1 C A 4: 117,070,938 (GRCm39) A396S probably benign Het
Atp8b5 A G 4: 43,366,609 (GRCm39) E791G probably damaging Het
Bicd1 T G 6: 149,415,224 (GRCm39) S646A possibly damaging Het
Bmpr1b A T 3: 141,562,360 (GRCm39) Y276N probably damaging Het
Cadps2 T C 6: 23,496,850 (GRCm39) H465R probably damaging Het
Card11 A T 5: 140,899,184 (GRCm39) probably null Het
Ccdc9 A G 7: 16,016,325 (GRCm39) L139P probably damaging Het
Cdk5rap3 A T 11: 96,800,771 (GRCm39) M355K probably benign Het
Cnot2 A T 10: 116,342,985 (GRCm39) V116E probably benign Het
Defb48 A G 14: 63,215,280 (GRCm39) V32A possibly damaging Het
Dmkn A G 7: 30,477,076 (GRCm39) D460G possibly damaging Het
Dmxl2 A G 9: 54,308,241 (GRCm39) V2170A possibly damaging Het
Dnah1 A T 14: 31,009,833 (GRCm39) F1912I possibly damaging Het
Dok3 C T 13: 55,675,306 (GRCm39) V71I probably benign Het
Dzip3 A T 16: 48,795,837 (GRCm39) F178Y probably damaging Het
Enpp1 T C 10: 24,550,308 (GRCm39) probably null Het
Eogt A G 6: 97,090,913 (GRCm39) F409L probably damaging Het
Erich6 A T 3: 58,538,110 (GRCm39) L218H probably damaging Het
Fam186a G C 15: 99,839,796 (GRCm39) I2149M possibly damaging Het
Fat1 G A 8: 45,476,464 (GRCm39) V1837I probably damaging Het
Flrt3 T A 2: 140,502,126 (GRCm39) T501S probably damaging Het
Fmn1 A C 2: 113,518,479 (GRCm39) E1365D probably damaging Het
Fzd5 G T 1: 64,775,251 (GRCm39) P170Q probably benign Het
Gm14326 G A 2: 177,588,298 (GRCm39) H233Y probably damaging Het
Gm19410 G A 8: 36,257,766 (GRCm39) V735M probably damaging Het
Gm21886 ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG 18: 80,133,040 (GRCm39) probably benign Het
Gm2832 A T 14: 41,002,919 (GRCm39) I143L Het
Greb1 G A 12: 16,766,766 (GRCm39) T344I probably benign Het
Grik2 A T 10: 49,399,918 (GRCm39) Y271N possibly damaging Het
Grin3b A G 10: 79,808,885 (GRCm39) N212D probably benign Het
Hgsnat A G 8: 26,461,077 (GRCm39) L187P probably damaging Het
Hmcn1 A G 1: 150,532,324 (GRCm39) I3152T probably damaging Het
Hsp90aa1 A T 12: 110,661,728 (GRCm39) I96N unknown Het
Ing3 G A 6: 21,953,798 (GRCm39) V80I probably damaging Het
Kif18b T C 11: 102,805,493 (GRCm39) I255V probably damaging Het
Kif2c A T 4: 117,039,629 (GRCm39) N20K possibly damaging Het
Mfsd6l T C 11: 68,448,864 (GRCm39) W572R probably damaging Het
Mybphl A G 3: 108,281,496 (GRCm39) T71A probably benign Het
Myo7a G T 7: 97,734,655 (GRCm39) T613K possibly damaging Het
Nfatc3 T C 8: 106,805,715 (GRCm39) S195P probably damaging Het
Nrg1 T C 8: 32,308,351 (GRCm39) N603S probably benign Het
Or52ae9 T C 7: 103,389,607 (GRCm39) Y280C probably damaging Het
Or8k22 A T 2: 86,163,697 (GRCm39) M1K probably null Het
Or8k37 A G 2: 86,470,013 (GRCm39) I13T possibly damaging Het
Parp8 T C 13: 117,031,341 (GRCm39) E457G probably damaging Het
Pclo T C 5: 14,571,076 (GRCm39) F154L probably benign Het
Pear1 A G 3: 87,659,875 (GRCm39) S704P probably damaging Het
Pkib A G 10: 57,612,394 (GRCm39) T92A probably benign Het
Pnpla7 A G 2: 24,888,678 (GRCm39) R376G possibly damaging Het
Pramel28 A T 4: 143,692,387 (GRCm39) C205S probably benign Het
Ptprd T A 4: 75,984,564 (GRCm39) E527D probably benign Het
Pum1 T C 4: 130,474,337 (GRCm39) V469A probably damaging Het
Rnf148 G A 6: 23,654,283 (GRCm39) Q238* probably null Het
Scn9a A C 2: 66,313,990 (GRCm39) N1909K probably benign Het
Sema3c A T 5: 17,932,594 (GRCm39) H699L possibly damaging Het
Sema3f A T 9: 107,566,927 (GRCm39) C201S probably damaging Het
Serinc2 T A 4: 130,152,583 (GRCm39) D206V probably benign Het
Serping1 A T 2: 84,597,637 (GRCm39) S415T probably benign Het
Sirpb1b A T 3: 15,613,932 (GRCm39) L50Q probably damaging Het
Slc25a22 T C 7: 141,011,296 (GRCm39) E262G probably benign Het
Slc5a8 A G 10: 88,738,353 (GRCm39) I205M probably damaging Het
Sod2 G T 17: 13,226,918 (GRCm39) probably benign Het
Tec T C 5: 72,943,362 (GRCm39) I118V probably benign Het
Tenm3 A T 8: 48,740,847 (GRCm39) V1212E probably damaging Het
Tex44 G A 1: 86,354,237 (GRCm39) V49I probably benign Het
Tmem132d A T 5: 127,861,205 (GRCm39) L972* probably null Het
Tpte G A 8: 22,815,563 (GRCm39) probably null Het
Trim6 T A 7: 103,882,039 (GRCm39) I456N probably damaging Het
Ubr4 G C 4: 139,149,728 (GRCm39) V520L probably benign Het
Ubxn8 A T 8: 34,123,635 (GRCm39) N101K probably benign Het
Vmn2r60 AG A 7: 41,845,158 (GRCm39) probably null Het
Vmn2r83 A G 10: 79,327,392 (GRCm39) T667A probably damaging Het
Zpld2 T C 4: 133,927,384 (GRCm39) probably null 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
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
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'- GTGACTAAAAGTTTGGTACACTGG -3'
(R):5'- GCCCCAGGAAGAGCAAGTATTTC -3'

Sequencing Primer
(F):5'- AAGTTTGGTACACTGGACTATTTTAG -3'
(R):5'- GTAACTGTGTCAGCTATCAG -3'
Posted On 2019-10-17