Incidental Mutation 'IGL02928:Il18r1'
ID363994
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il18r1
Ensembl Gene ENSMUSG00000026070
Gene Nameinterleukin 18 receptor 1
SynonymsIl18ralpha, Il1rrp
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02928
Quality Score
Status
Chromosome1
Chromosomal Location40465552-40500854 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 40478551 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142070 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087983] [ENSMUST00000108044] [ENSMUST00000167723] [ENSMUST00000193391] [ENSMUST00000193793] [ENSMUST00000195684]
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: 145,043,517 Y92C probably damaging Het
9430007A20Rik A T 4: 144,529,232 L407F possibly damaging Het
Abcc3 G T 11: 94,361,306 T817K possibly damaging Het
Arhgap10 G A 8: 77,250,910 probably benign Het
Arhgef16 G T 4: 154,282,893 Q352K probably benign Het
Cep104 A G 4: 153,981,259 I68V probably benign Het
Col5a2 G A 1: 45,385,020 A1082V probably benign Het
Col6a1 A T 10: 76,709,666 Y991N possibly damaging Het
Ehmt2 T C 17: 34,910,822 I1021T probably damaging Het
Eif2ak4 G A 2: 118,472,687 probably null Het
Ern1 A G 11: 106,405,879 probably benign Het
Fgf18 A T 11: 33,124,674 I99N possibly damaging Het
Glp1r A G 17: 30,918,937 D114G probably benign Het
Gm10553 A G 1: 85,100,212 K17E possibly damaging Het
Gm5422 T A 10: 31,250,254 noncoding transcript Het
Gm7714 A T 5: 88,277,117 I14L probably benign Het
Gnb1 A C 4: 155,553,406 T196P probably benign Het
Ighv6-5 T A 12: 114,416,792 D35V probably benign Het
Ipo11 A T 13: 106,889,355 probably benign Het
Itih1 T A 14: 30,937,758 Q307L probably damaging Het
Mmp1b T A 9: 7,368,242 *464L probably null Het
Mrps7 C T 11: 115,605,084 Q113* probably null Het
Npat A C 9: 53,566,838 probably benign Het
Nrp2 A G 1: 62,815,446 I852V probably damaging Het
Olfr1338 A G 4: 118,754,500 F15L probably damaging Het
Olfr291 A G 7: 84,857,065 E232G probably benign Het
P2rx6 T A 16: 17,565,037 probably benign Het
Parp6 T A 9: 59,641,063 N466K possibly damaging Het
Prss12 A T 3: 123,487,156 N497Y possibly damaging Het
Psg22 T C 7: 18,719,533 V51A probably damaging Het
Ptgir T C 7: 16,908,998 S175P possibly damaging Het
Rd3l T C 12: 111,979,578 S156G probably benign Het
Reck C T 4: 43,912,078 H196Y possibly damaging Het
Rft1 T A 14: 30,663,115 V165D possibly damaging Het
Rin2 A G 2: 145,860,006 probably benign Het
Rufy4 A G 1: 74,129,082 probably benign Het
Scfd2 G A 5: 74,531,171 T150M probably damaging Het
Sgca A G 11: 94,972,303 W75R probably damaging Het
Sirt7 A T 11: 120,620,216 D318E probably benign Het
Snta1 C T 2: 154,381,039 A255T probably benign Het
Stxbp2 A G 8: 3,641,736 D485G probably damaging Het
Sycp1 T A 3: 102,818,818 probably benign Het
Tenm2 A G 11: 36,027,170 V1922A possibly damaging Het
Ttc7b A T 12: 100,403,415 V365D probably damaging Het
Upk3b A G 5: 136,039,141 E62G probably benign Het
Wdr36 T C 18: 32,847,319 probably null Het
Yars2 T C 16: 16,303,546 F188S probably damaging Het
Other mutations in Il18r1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:Il18r1 APN 1 40498652 missense possibly damaging 0.68
IGL00742:Il18r1 APN 1 40480991 missense probably benign 0.11
IGL01448:Il18r1 APN 1 40474730 missense probably damaging 1.00
IGL01726:Il18r1 APN 1 40498403 missense possibly damaging 0.83
IGL02081:Il18r1 APN 1 40498505 missense probably damaging 1.00
IGL02425:Il18r1 APN 1 40491221 splice site probably benign
IGL02447:Il18r1 APN 1 40498337 critical splice acceptor site probably null
IGL02529:Il18r1 APN 1 40487059 missense possibly damaging 0.77
IGL02863:Il18r1 APN 1 40487007 missense probably damaging 1.00
IGL02941:Il18r1 APN 1 40498551 missense probably damaging 0.99
IGL03156:Il18r1 APN 1 40498368 missense possibly damaging 0.92
R0532:Il18r1 UTSW 1 40474901 missense probably damaging 0.97
R0926:Il18r1 UTSW 1 40487028 missense probably damaging 1.00
R1909:Il18r1 UTSW 1 40474914 missense probably damaging 1.00
R2212:Il18r1 UTSW 1 40491067 missense probably damaging 1.00
R2254:Il18r1 UTSW 1 40491220 missense possibly damaging 0.91
R2860:Il18r1 UTSW 1 40498557 missense possibly damaging 0.49
R2861:Il18r1 UTSW 1 40498557 missense possibly damaging 0.49
R2862:Il18r1 UTSW 1 40498557 missense possibly damaging 0.49
R3412:Il18r1 UTSW 1 40491067 missense probably damaging 1.00
R3432:Il18r1 UTSW 1 40487089 missense probably damaging 0.99
R3718:Il18r1 UTSW 1 40495788 missense probably benign 0.00
R3816:Il18r1 UTSW 1 40486972 splice site probably benign
R3894:Il18r1 UTSW 1 40474874 missense possibly damaging 0.79
R4061:Il18r1 UTSW 1 40474936 missense probably benign 0.33
R4062:Il18r1 UTSW 1 40474936 missense probably benign 0.33
R4381:Il18r1 UTSW 1 40471790 missense probably benign 0.00
R4972:Il18r1 UTSW 1 40491064 missense probably benign 0.39
R5059:Il18r1 UTSW 1 40481067 critical splice donor site probably null
R6229:Il18r1 UTSW 1 40474763 missense probably benign 0.02
R6458:Il18r1 UTSW 1 40491182 nonsense probably null
R6505:Il18r1 UTSW 1 40489707 missense probably benign
R6738:Il18r1 UTSW 1 40498656 missense probably benign 0.06
R7002:Il18r1 UTSW 1 40474853 missense probably benign 0.39
R7317:Il18r1 UTSW 1 40474832 missense possibly damaging 0.80
R7485:Il18r1 UTSW 1 40480980 missense probably benign 0.01
R7510:Il18r1 UTSW 1 40474875 missense probably benign 0.03
R7515:Il18r1 UTSW 1 40498670 missense not run
R7526:Il18r1 UTSW 1 40471772 missense probably damaging 0.99
R7793:Il18r1 UTSW 1 40471764 missense probably benign 0.01
R7870:Il18r1 UTSW 1 40491136 missense probably benign 0.45
R7953:Il18r1 UTSW 1 40491136 missense probably benign 0.45
R8004:Il18r1 UTSW 1 40474757 missense probably damaging 1.00
R8063:Il18r1 UTSW 1 40487038 missense probably benign 0.10
X0023:Il18r1 UTSW 1 40471761 missense probably benign 0.04
X0064:Il18r1 UTSW 1 40495713 intron probably null
Z1088:Il18r1 UTSW 1 40474751 missense probably damaging 1.00
Z1088:Il18r1 UTSW 1 40478486 missense probably damaging 0.99
Posted On2015-12-18