Incidental Mutation 'IGL01448:Il18r1'
ID 84513
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 # IGL01448
Quality Score
Status
Chromosome 1
Chromosomal Location 40504712-40540014 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 40513890 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 32 (E32G)
Ref Sequence ENSEMBL: ENSMUSP00000141464 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087983] [ENSMUST00000108044] [ENSMUST00000167723] [ENSMUST00000193391] [ENSMUST00000193793] [ENSMUST00000195684]
AlphaFold Q61098
Predicted Effect probably damaging
Transcript: ENSMUST00000087983
AA Change: E32G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000085298
Gene: ENSMUSG00000026070
AA Change: E32G

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: ENSMUST00000108044
AA Change: E32G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103679
Gene: ENSMUSG00000026070
AA Change: E32G

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: E32G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128277
Gene: ENSMUSG00000026070
AA Change: E32G

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: E32G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141695
Gene: ENSMUSG00000026070
AA Change: E32G

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: ENSMUST00000193793
AA Change: E32G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141464
Gene: ENSMUSG00000026070
AA Change: E32G

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 damaging
Transcript: ENSMUST00000195684
AA Change: E32G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142070
Gene: ENSMUSG00000026070
AA Change: E32G

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020A23Rik A T 2: 130,247,767 (GRCm39) E75D possibly damaging Het
1700084J12Rik A G 15: 33,405,779 (GRCm39) probably benign Het
2610303G11Rik T A 9: 98,068,762 (GRCm39) noncoding transcript Het
4931414P19Rik T C 14: 54,823,417 (GRCm39) D320G possibly damaging Het
Adamts6 G A 13: 104,433,672 (GRCm39) E34K probably damaging Het
Alms1 T A 6: 85,654,881 (GRCm39) N3142K possibly damaging Het
Anapc7 G A 5: 122,566,276 (GRCm39) A62T probably damaging Het
Atp8b3 G A 10: 80,356,256 (GRCm39) P1152L probably benign Het
Cc2d2a C T 5: 43,841,527 (GRCm39) T181I possibly damaging Het
Celsr2 A G 3: 108,300,555 (GRCm39) L2835P probably damaging Het
Ctns A T 11: 73,079,548 (GRCm39) V99D possibly damaging Het
Dchs1 T C 7: 105,421,134 (GRCm39) R429G probably damaging Het
Ddx11 T C 17: 66,441,132 (GRCm39) V218A probably damaging Het
Eftud2 G A 11: 102,756,389 (GRCm39) probably benign Het
Erich1 G T 8: 14,128,853 (GRCm39) T29N possibly damaging Het
Exosc8 T C 3: 54,636,686 (GRCm39) E215G probably damaging Het
Fam184a G T 10: 53,575,045 (GRCm39) A188E probably benign Het
Fign A G 2: 63,810,032 (GRCm39) S413P probably damaging Het
Fkbp6 A G 5: 135,378,550 (GRCm39) S33P probably damaging Het
Glb1 A G 9: 114,279,745 (GRCm39) probably benign Het
H2-Q1 T C 17: 35,542,437 (GRCm39) probably benign Het
Helz2 T C 2: 180,875,770 (GRCm39) T1575A probably damaging Het
Ints5 C T 19: 8,872,851 (GRCm39) P270L possibly damaging Het
Itga7 G T 10: 128,785,337 (GRCm39) E847* probably null Het
Kcns3 A C 12: 11,141,644 (GRCm39) S352A possibly damaging Het
Kiz A G 2: 146,705,721 (GRCm39) K94E probably benign Het
Lin7b C T 7: 45,018,624 (GRCm39) V12M probably damaging Het
Myo18b A T 5: 112,959,570 (GRCm39) I1409N probably damaging Het
Myo5b A G 18: 74,777,161 (GRCm39) H407R probably damaging Het
Nelfa T C 5: 34,056,146 (GRCm39) T506A probably damaging Het
Or10p21 A G 10: 128,847,729 (GRCm39) T192A probably damaging Het
Or4d5 A T 9: 40,012,378 (GRCm39) M136K probably damaging Het
Or5p72 T A 7: 108,022,235 (GRCm39) Y152* probably null Het
Or6c69 A G 10: 129,748,114 (GRCm39) I11T possibly damaging Het
Pclo A C 5: 14,726,408 (GRCm39) probably benign Het
Pes1 G A 11: 3,927,979 (GRCm39) E544K possibly damaging Het
Rabgap1l A G 1: 160,568,315 (GRCm39) probably benign Het
Rapgef2 T C 3: 78,976,244 (GRCm39) M1521V probably benign Het
Rapgef2 C T 3: 79,011,269 (GRCm39) probably null Het
Reln A G 5: 22,245,403 (GRCm39) V735A probably benign Het
Slc2a4 A G 11: 69,835,902 (GRCm39) S316P possibly damaging Het
Smarce1 C T 11: 99,101,013 (GRCm39) G373E possibly damaging Het
Spata31d1a T A 13: 59,849,373 (GRCm39) R918S probably benign Het
St3gal4 T C 9: 34,963,627 (GRCm39) K227R probably benign Het
Stra6l T A 4: 45,864,864 (GRCm39) probably null Het
Stxbp5l T C 16: 37,036,341 (GRCm39) I425V probably damaging Het
Tcaf2 T C 6: 42,607,262 (GRCm39) T231A probably benign Het
Tiparp G T 3: 65,460,030 (GRCm39) G442* probably null Het
Tnks A G 8: 35,307,136 (GRCm39) Y1138H probably damaging Het
Vezt T A 10: 93,832,719 (GRCm39) I231F probably damaging Het
Vmn2r4 A T 3: 64,313,816 (GRCm39) N388K probably damaging Het
Zbed3 A G 13: 95,473,142 (GRCm39) K189E possibly damaging Het
Zfp512b T C 2: 181,229,578 (GRCm39) T625A possibly damaging Het
Zfp827 A T 8: 79,787,362 (GRCm39) Q176L possibly 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
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
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 2013-11-11