Incidental Mutation 'IGL02081:Il18r1'
ID192583
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 #IGL02081
Quality Score
Status
Chromosome1
Chromosomal Location40465552-40500854 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 40498505 bp
ZygosityHeterozygous
Amino Acid Change Serine to Cysteine at position 477 (S477C)
Ref Sequence ENSEMBL: ENSMUSP00000142070 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087983] [ENSMUST00000108044] [ENSMUST00000195684]
Predicted Effect probably damaging
Transcript: ENSMUST00000087983
AA Change: S477C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000085298
Gene: ENSMUSG00000026070
AA Change: S477C

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: S477C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103679
Gene: ENSMUSG00000026070
AA Change: S477C

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: ENSMUST00000195684
AA Change: S477C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142070
Gene: ENSMUSG00000026070
AA Change: S477C

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a G T 8: 43,570,196 L86I probably damaging Het
Adamts17 C T 7: 67,062,110 R726C probably damaging Het
Aff1 A G 5: 103,834,305 K778R probably damaging Het
Agr2 G A 12: 35,995,656 probably null Het
Alms1 T A 6: 85,620,303 C1173S possibly damaging Het
Apol7b A G 15: 77,423,536 L253P possibly damaging Het
Atp10a A T 7: 58,827,856 T1268S possibly damaging Het
Atr A T 9: 95,883,205 K1149N probably damaging Het
Bri3bp G A 5: 125,441,897 probably null Het
Ccser1 T A 6: 61,311,168 L105* probably null Het
Cyp4a10 G A 4: 115,521,172 A152T possibly damaging Het
Dock2 C T 11: 34,254,355 D1396N probably benign Het
Ext1 A T 15: 53,073,446 Y634* probably null Het
Fbxo18 T C 2: 11,764,127 D285G probably benign Het
Gcn1l1 A G 5: 115,585,871 K529E probably damaging Het
H2-Q2 A G 17: 35,342,708 D58G probably damaging Het
Hid1 T C 11: 115,348,506 D776G possibly damaging Het
Jmjd1c T G 10: 67,219,526 F242V probably benign Het
Krtap4-1 G A 11: 99,628,184 probably benign Het
Mms19 A G 19: 41,949,979 probably null Het
Mpdz T C 4: 81,335,869 T1009A probably damaging Het
Mrpl22 T C 11: 58,171,821 I19T probably benign Het
Mrvi1 T C 7: 110,924,074 probably null Het
Nup88 A G 11: 70,954,654 probably benign Het
Olfr1442 A T 19: 12,674,816 I204F probably benign Het
Pnpo T C 11: 96,939,324 Y183C probably damaging Het
Poln C T 5: 34,129,139 M228I probably benign Het
Scara5 T C 14: 65,730,655 W126R possibly damaging Het
Scmh1 T G 4: 120,515,078 C359W probably damaging Het
Snrpn T C 7: 59,987,446 I41V possibly damaging Het
St8sia1 T C 6: 142,829,227 M209V probably benign Het
Stard9 T A 2: 120,664,910 S89T probably damaging Het
Tet1 T C 10: 62,813,818 T1667A probably damaging Het
Tmem217 C T 17: 29,526,373 G128S probably damaging Het
Ttpal A G 2: 163,615,388 N260S probably benign Het
Vwa2 A G 19: 56,902,236 D233G probably benign Het
Wdr83 A G 8: 85,075,843 F258L probably benign Het
Zfp277 A T 12: 40,328,796 L354* probably null Het
Zfp516 A G 18: 82,955,733 R19G probably benign 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
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
IGL02928:Il18r1 APN 1 40478551 critical splice donor site probably null
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
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 On2014-05-14