Incidental Mutation 'IGL02928:Il18r1'
ID 363994
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il18r1
Ensembl Gene ENSMUSG00000026070
Gene Name interleukin 18 receptor 1
Synonyms Il1rrp, Il18ralpha
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02928
Quality Score
Status
Chromosome 1
Chromosomal Location 40504712-40540014 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 40517711 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 null
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 null
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 null
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 null
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 null
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 null
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
Coding Region Coverage
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik A G 5: 144,980,327 (GRCm39) Y92C probably damaging Het
Aadacl4fm1 A T 4: 144,255,802 (GRCm39) L407F possibly damaging Het
Abcc3 G T 11: 94,252,132 (GRCm39) T817K possibly damaging Het
Arhgap10 G A 8: 77,977,539 (GRCm39) probably benign Het
Arhgef16 G T 4: 154,367,350 (GRCm39) Q352K probably benign Het
Cep104 A G 4: 154,065,716 (GRCm39) I68V probably benign Het
Col5a2 G A 1: 45,424,180 (GRCm39) A1082V probably benign Het
Col6a1 A T 10: 76,545,500 (GRCm39) Y991N possibly damaging Het
Ehmt2 T C 17: 35,129,798 (GRCm39) I1021T probably damaging Het
Eif2ak4 G A 2: 118,303,168 (GRCm39) probably null Het
Ern1 A G 11: 106,296,705 (GRCm39) probably benign Het
Fgf18 A T 11: 33,074,674 (GRCm39) I99N possibly damaging Het
Glp1r A G 17: 31,137,911 (GRCm39) D114G probably benign Het
Gm10553 A G 1: 85,077,933 (GRCm39) K17E possibly damaging Het
Gm5422 T A 10: 31,126,250 (GRCm39) noncoding transcript Het
Gnb1 A C 4: 155,637,863 (GRCm39) T196P probably benign Het
Ighv6-5 T A 12: 114,380,412 (GRCm39) D35V probably benign Het
Ipo11 A T 13: 107,025,863 (GRCm39) probably benign Het
Itih1 T A 14: 30,659,715 (GRCm39) Q307L probably damaging Het
Mmp1b T A 9: 7,368,242 (GRCm39) *464L probably null Het
Mrps7 C T 11: 115,495,910 (GRCm39) Q113* probably null Het
Npat A C 9: 53,478,138 (GRCm39) probably benign Het
Nrp2 A G 1: 62,854,605 (GRCm39) I852V probably damaging Het
Or10ak14 A G 4: 118,611,697 (GRCm39) F15L probably damaging Het
Or5ae2 A G 7: 84,506,273 (GRCm39) E232G probably benign Het
P2rx6 T A 16: 17,382,901 (GRCm39) probably benign Het
Parp6 T A 9: 59,548,346 (GRCm39) N466K possibly damaging Het
Prss12 A T 3: 123,280,805 (GRCm39) N497Y possibly damaging Het
Psg22 T C 7: 18,453,458 (GRCm39) V51A probably damaging Het
Ptgir T C 7: 16,642,923 (GRCm39) S175P possibly damaging Het
Rd3l T C 12: 111,946,012 (GRCm39) S156G probably benign Het
Reck C T 4: 43,912,078 (GRCm39) H196Y possibly damaging Het
Rft1 T A 14: 30,385,072 (GRCm39) V165D possibly damaging Het
Rin2 A G 2: 145,701,926 (GRCm39) probably benign Het
Rufy4 A G 1: 74,168,241 (GRCm39) probably benign Het
Scfd2 G A 5: 74,691,832 (GRCm39) T150M probably damaging Het
Sgca A G 11: 94,863,129 (GRCm39) W75R probably damaging Het
Sirt7 A T 11: 120,511,042 (GRCm39) D318E probably benign Het
Smr2l A T 5: 88,424,976 (GRCm39) I14L probably benign Het
Snta1 C T 2: 154,222,959 (GRCm39) A255T probably benign Het
Stxbp2 A G 8: 3,691,736 (GRCm39) D485G probably damaging Het
Sycp1 T A 3: 102,726,134 (GRCm39) probably benign Het
Tenm2 A G 11: 35,917,997 (GRCm39) V1922A possibly damaging Het
Ttc7b A T 12: 100,369,674 (GRCm39) V365D probably damaging Het
Upk3b A G 5: 136,067,995 (GRCm39) E62G probably benign Het
Wdr36 T C 18: 32,980,372 (GRCm39) probably null Het
Yars2 T C 16: 16,121,410 (GRCm39) F188S probably damaging 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
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
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
Posted On 2015-12-18