Incidental Mutation 'IGL01945:Il1r2'
ID181231
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il1r2
Ensembl Gene ENSMUSG00000026073
Gene Nameinterleukin 1 receptor, type II
SynonymsIL-1 receptor beta chain, CD121b, Il1r-2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01945
Quality Score
Status
Chromosome1
Chromosomal Location40074079-40125231 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 40102453 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 9 (T9A)
Ref Sequence ENSEMBL: ENSMUSP00000141804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027243] [ENSMUST00000191671] [ENSMUST00000194913] [ENSMUST00000195770]
Predicted Effect probably benign
Transcript: ENSMUST00000027243
AA Change: T9A

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000027243
Gene: ENSMUSG00000026073
AA Change: T9A

DomainStartEndE-ValueType
IG 49 138 2.48e-8 SMART
IG 149 241 1.6e-2 SMART
IG 255 354 1.32e-3 SMART
transmembrane domain 359 381 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000191671
AA Change: T9A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000141882
Gene: ENSMUSG00000026073
AA Change: T9A

DomainStartEndE-ValueType
IG 49 138 1e-10 SMART
Blast:IG 149 183 2e-16 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000194913
Predicted Effect possibly damaging
Transcript: ENSMUST00000195770
AA Change: T9A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
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 protein binds interleukin alpha (IL1A), interleukin beta (IL1B), and interleukin 1 receptor, type I(IL1R1/IL1RA), and acts as a decoy receptor that inhibits the activity of its ligands. Interleukin 4 (IL4) is reported to antagonize the activity of interleukin 1 by inducing the expression and release of this cytokine. This gene and three other genes form a cytokine receptor gene cluster on chromosome 2q12. Alternative splicing results in multiple transcript variants and protein isoforms. Alternative splicing produces both membrane-bound and soluble proteins. A soluble protein is also produced by proteolytic cleavage. [provided by RefSeq, May 2012]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A C 11: 110,083,304 probably benign Het
Acta2 A G 19: 34,251,854 V45A probably benign Het
Adam11 G A 11: 102,772,910 V305M probably damaging Het
Adcy1 A G 11: 7,161,891 K919E probably damaging Het
Afap1l1 T C 18: 61,756,863 T101A probably benign Het
Apbb2 T A 5: 66,400,251 D289V probably damaging Het
Appl1 A G 14: 26,928,655 V520A possibly damaging Het
Atp5g3 G A 2: 73,910,969 R9C probably benign Het
Atp8a2 A G 14: 60,026,160 L375P probably damaging Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Cavin1 A T 11: 100,970,420 F16Y probably benign Het
Ccdc185 C A 1: 182,748,876 V83L probably benign Het
Ccdc80 T A 16: 45,118,245 S772T probably damaging Het
Cntn4 T A 6: 106,437,904 V132E probably damaging Het
Coa5 A T 1: 37,429,898 C24S probably damaging Het
Col6a5 A T 9: 105,928,290 V1139D unknown Het
Ddx46 C A 13: 55,655,072 S469* probably null Het
Ep300 A G 15: 81,616,109 probably benign Het
Fcna A T 2: 25,627,835 M1K probably null Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gstm3 T C 3: 107,967,657 E93G probably damaging Het
Gtse1 A G 15: 85,871,547 T471A probably benign Het
Hepacam2 T A 6: 3,487,117 Y4F probably benign Het
Hipk1 T C 3: 103,744,004 I1148V possibly damaging Het
Kl A T 5: 150,988,937 D717V probably damaging Het
Krt75 G A 15: 101,570,164 T345M possibly damaging Het
Myo5a T A 9: 75,140,671 H260Q probably damaging Het
Nckap1l G A 15: 103,461,642 G156D probably damaging Het
Nlrp1b T G 11: 71,181,407 T537P probably damaging Het
Nudt17 A G 3: 96,707,039 I201T probably damaging Het
Olfr195 T C 16: 59,149,464 S205P probably benign Het
Olfr767 A T 10: 129,079,303 I220N probably damaging Het
Olfr845 A T 9: 19,339,332 S291C probably damaging Het
Padi6 T C 4: 140,741,924 D35G probably benign Het
Plcb1 A T 2: 135,220,791 Y107F probably benign Het
Plek2 T A 12: 78,892,148 H279L probably damaging Het
Plk2 A G 13: 110,399,054 D470G possibly damaging Het
Ranbp17 T C 11: 33,328,520 T116A possibly damaging Het
Rbck1 G A 2: 152,318,316 P481L probably damaging Het
Reps1 A G 10: 18,093,836 N229S probably benign Het
Rngtt T C 4: 33,339,073 W293R probably damaging Het
Robo1 A T 16: 72,962,226 I376F probably damaging Het
Ryr2 T A 13: 11,790,363 I872F probably damaging Het
Sgip1 T C 4: 102,966,242 Y707H probably damaging Het
Slc17a5 G T 9: 78,587,932 D12E probably benign Het
Slco1a5 T A 6: 142,243,989 probably null Het
Strap A G 6: 137,741,335 I146V probably benign Het
Tcim A T 8: 24,438,876 H7Q probably benign Het
Tgfbr3 A G 5: 107,121,358 probably null Het
Thada G T 17: 84,222,766 T1725N probably benign Het
Trhr T C 15: 44,197,144 V20A probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wnt5a A G 14: 28,518,562 N223S probably damaging Het
Other mutations in Il1r2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02673:Il1r2 APN 1 40115163 missense probably damaging 1.00
R0019:Il1r2 UTSW 1 40125050 missense probably damaging 1.00
R0019:Il1r2 UTSW 1 40125050 missense probably damaging 1.00
R0299:Il1r2 UTSW 1 40123149 nonsense probably null
R0499:Il1r2 UTSW 1 40123149 nonsense probably null
R0607:Il1r2 UTSW 1 40105455 missense probably benign 0.06
R1435:Il1r2 UTSW 1 40105299 missense probably damaging 0.99
R1925:Il1r2 UTSW 1 40115148 missense probably damaging 0.99
R2209:Il1r2 UTSW 1 40115138 missense probably benign 0.02
R2240:Il1r2 UTSW 1 40105470 missense probably damaging 1.00
R4997:Il1r2 UTSW 1 40121046 critical splice donor site probably null
R7273:Il1r2 UTSW 1 40112007 missense probably benign 0.06
R7331:Il1r2 UTSW 1 40123249 missense probably benign 0.11
R7401:Il1r2 UTSW 1 40123210 missense probably damaging 1.00
R7751:Il1r2 UTSW 1 40123211 missense probably damaging 1.00
R7841:Il1r2 UTSW 1 40105468 missense probably damaging 1.00
R7924:Il1r2 UTSW 1 40105468 missense probably damaging 1.00
X0010:Il1r2 UTSW 1 40117981 missense probably benign 0.16
Posted On2014-05-07