Incidental Mutation 'R7751:Il1r2'
ID 597189
Institutional Source Beutler Lab
Gene Symbol Il1r2
Ensembl Gene ENSMUSG00000026073
Gene Name interleukin 1 receptor, type II
Synonyms Il1r-2, IL-1 receptor beta chain, CD121b
MMRRC Submission 045807-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7751 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 40123872-40164390 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 40162371 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 338 (C338Y)
Ref Sequence ENSEMBL: ENSMUSP00000027243 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027243] [ENSMUST00000195770]
AlphaFold P27931
Predicted Effect probably damaging
Transcript: ENSMUST00000027243
AA Change: C338Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027243
Gene: ENSMUSG00000026073
AA Change: C338Y

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: ENSMUST00000195770
Meta Mutation Damage Score 0.9594 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (82/84)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A T 7: 119,965,044 (GRCm39) I769F possibly damaging Het
Ackr1 A C 1: 173,159,779 (GRCm39) W247G probably damaging Het
Adgrl4 G A 3: 151,197,946 (GRCm39) G69S probably damaging Het
Agrn C T 4: 156,260,886 (GRCm39) S710N probably damaging Het
Aox3 A G 1: 58,218,494 (GRCm39) M1103V probably benign Het
Asb18 G A 1: 89,896,206 (GRCm39) A278V probably benign Het
B3gat2 A G 1: 23,801,945 (GRCm39) E77G probably benign Het
Camta1 T C 4: 151,232,863 (GRCm39) probably null Het
Cbll1 A T 12: 31,537,579 (GRCm39) I392N probably damaging Het
Ccdc113 A G 8: 96,264,829 (GRCm39) D113G possibly damaging Het
Cd79a T C 7: 24,599,092 (GRCm39) F148L probably benign Het
Chad T A 11: 94,455,999 (GRCm39) C26S probably damaging Het
Cog4 T C 8: 111,607,600 (GRCm39) F696L probably damaging Het
Csf2rb T G 15: 78,225,839 (GRCm39) S303R probably damaging Het
Cstpp1 A T 2: 91,214,118 (GRCm39) L79H probably damaging Het
Cubn C T 2: 13,365,176 (GRCm39) G1621R probably damaging Het
Dennd4c T A 4: 86,747,179 (GRCm39) N1454K probably benign Het
Dennd5b T C 6: 148,918,604 (GRCm39) I853V probably benign Het
Dnaaf11 T C 15: 66,321,412 (GRCm39) E243G probably benign Het
Dop1a A T 9: 86,389,783 (GRCm39) D561V probably benign Het
Dpysl4 A G 7: 138,669,456 (GRCm39) I45V probably benign Het
Ect2l A C 10: 18,045,153 (GRCm39) S301A possibly damaging Het
Elf2 A G 3: 51,165,035 (GRCm39) V323A probably damaging Het
Epcam C T 17: 87,947,904 (GRCm39) R125* probably null Het
Ephb4 T C 5: 137,363,937 (GRCm39) V612A probably damaging Het
Erich3 C T 3: 154,469,426 (GRCm39) R1293C unknown Het
F830045P16Rik C A 2: 129,302,367 (GRCm39) L408F probably damaging Het
Gask1a G A 9: 121,793,887 (GRCm39) V14I probably benign Het
Gm13102 T C 4: 143,835,787 (GRCm39) I485T probably benign Het
Gm16494 A T 17: 47,327,800 (GRCm39) L28* probably null Het
Grin2c A G 11: 115,144,696 (GRCm39) V610A probably damaging Het
Hacd2 T A 16: 34,922,434 (GRCm39) Y208N probably damaging Het
Hlf A T 11: 90,278,821 (GRCm39) F81Y probably damaging Het
Igfbp7 G A 5: 77,499,134 (GRCm39) A257V probably damaging Het
Il12a A T 3: 68,605,235 (GRCm39) N167I probably damaging Het
Irf2bpl G T 12: 86,930,489 (GRCm39) H61Q probably damaging Het
Kansl1 A G 11: 104,314,890 (GRCm39) F383L probably benign Het
Kcnh8 A G 17: 53,268,871 (GRCm39) T863A probably damaging Het
Klhl36 C A 8: 120,596,397 (GRCm39) Q33K probably benign Het
Lrig2 A T 3: 104,401,985 (GRCm39) Y113* probably null Het
Lrrc36 T A 8: 106,178,667 (GRCm39) S287R possibly damaging Het
Mr1 A T 1: 155,005,054 (GRCm39) Y329N probably damaging Het
Muc5ac G C 7: 141,363,040 (GRCm39) G2117A unknown Het
Nectin4 G A 1: 171,211,326 (GRCm39) probably null Het
Nsrp1 A G 11: 76,940,097 (GRCm39) probably null Het
Or1e21 A T 11: 73,344,372 (GRCm39) I222N possibly damaging Het
Or9g3 A G 2: 85,583,836 (GRCm39) T44A probably benign Het
Pcdh8 A T 14: 80,008,143 (GRCm39) I140N probably damaging Het
Pdzd8 A G 19: 59,333,208 (GRCm39) V271A probably damaging Het
Pex3 T A 10: 13,403,550 (GRCm39) I324L possibly damaging Het
Pira12 T A 7: 3,898,603 (GRCm39) I282F probably damaging Het
Pitpnm1 T A 19: 4,153,470 (GRCm39) F209I probably benign Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Pkhd1 T A 1: 20,271,149 (GRCm39) T3135S probably damaging Het
Pramel32 T C 4: 88,547,356 (GRCm39) D192G probably benign Het
Prdm16 T C 4: 154,412,756 (GRCm39) N1082S probably damaging Het
Psmd12 A T 11: 107,370,439 (GRCm39) I13F possibly damaging Het
Ptgs2 A T 1: 149,980,258 (GRCm39) I399F probably benign Het
Rasa3 A T 8: 13,618,708 (GRCm39) S830T probably benign Het
Rasgef1c A T 11: 49,861,120 (GRCm39) R362W probably damaging Het
Resf1 A G 6: 149,226,936 (GRCm39) probably benign Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rnf217 C A 10: 31,393,415 (GRCm39) G389W probably damaging Het
Sec16b A T 1: 157,385,630 (GRCm39) D675V probably damaging Het
Serpinb12 A G 1: 106,877,401 (GRCm39) Y137C probably damaging Het
Slc2a5 T A 4: 150,227,591 (GRCm39) I470N probably damaging Het
Slc5a1 T C 5: 33,290,761 (GRCm39) I115T possibly damaging Het
Slco1a4 A T 6: 141,780,413 (GRCm39) S126T possibly damaging Het
St6galnac2 T C 11: 116,568,410 (GRCm39) D351G probably damaging Het
Stat4 G A 1: 52,121,711 (GRCm39) V357M possibly damaging Het
Taf4 G A 2: 179,573,822 (GRCm39) T682M probably damaging Het
Tdrd9 T A 12: 111,958,982 (GRCm39) C139S probably benign Het
Tmed9 G A 13: 55,741,054 (GRCm39) R23Q not run Het
Tmem150a A C 6: 72,336,028 (GRCm39) H205P probably damaging Het
Tns2 C A 15: 102,018,163 (GRCm39) L350I probably benign Het
Tpr A G 1: 150,295,646 (GRCm39) T964A probably benign Het
Traf3ip1 G T 1: 91,422,479 (GRCm39) probably benign Het
Trem2 G T 17: 48,653,567 (GRCm39) probably benign Het
Ttc14 G A 3: 33,863,590 (GRCm39) G666D unknown Het
Ulk1 T C 5: 110,957,078 (GRCm39) D40G probably damaging Het
Vmn1r30 A G 6: 58,412,397 (GRCm39) V145A probably benign Het
Vmn1r79 C T 7: 11,910,762 (GRCm39) Q215* probably null Het
Wnk2 G A 13: 49,231,493 (GRCm39) T16I unknown Het
Yme1l1 T C 2: 23,077,856 (GRCm39) probably null Het
Zbtb16 T A 9: 48,654,769 (GRCm39) H454L probably damaging Het
Zkscan5 A C 5: 145,157,676 (GRCm39) H726P probably damaging Het
Zrsr2-ps1 A G 11: 22,923,595 (GRCm39) Q123R possibly damaging Het
Other mutations in Il1r2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01945:Il1r2 APN 1 40,141,613 (GRCm39) missense possibly damaging 0.66
IGL02673:Il1r2 APN 1 40,154,323 (GRCm39) missense probably damaging 1.00
R0019:Il1r2 UTSW 1 40,164,210 (GRCm39) missense probably damaging 1.00
R0019:Il1r2 UTSW 1 40,164,210 (GRCm39) missense probably damaging 1.00
R0299:Il1r2 UTSW 1 40,162,309 (GRCm39) nonsense probably null
R0499:Il1r2 UTSW 1 40,162,309 (GRCm39) nonsense probably null
R0607:Il1r2 UTSW 1 40,144,615 (GRCm39) missense probably benign 0.06
R1435:Il1r2 UTSW 1 40,144,459 (GRCm39) missense probably damaging 0.99
R1925:Il1r2 UTSW 1 40,154,308 (GRCm39) missense probably damaging 0.99
R2209:Il1r2 UTSW 1 40,154,298 (GRCm39) missense probably benign 0.02
R2240:Il1r2 UTSW 1 40,144,630 (GRCm39) missense probably damaging 1.00
R4997:Il1r2 UTSW 1 40,160,206 (GRCm39) critical splice donor site probably null
R7273:Il1r2 UTSW 1 40,151,167 (GRCm39) missense probably benign 0.06
R7331:Il1r2 UTSW 1 40,162,409 (GRCm39) missense probably benign 0.11
R7401:Il1r2 UTSW 1 40,162,370 (GRCm39) missense probably damaging 1.00
R7841:Il1r2 UTSW 1 40,144,628 (GRCm39) missense probably damaging 1.00
R8363:Il1r2 UTSW 1 40,160,095 (GRCm39) missense probably damaging 1.00
R8470:Il1r2 UTSW 1 40,162,416 (GRCm39) missense probably damaging 1.00
R8520:Il1r2 UTSW 1 40,144,499 (GRCm39) missense probably damaging 1.00
R8871:Il1r2 UTSW 1 40,144,424 (GRCm39) missense probably benign 0.11
R9148:Il1r2 UTSW 1 40,151,258 (GRCm39) missense probably damaging 0.99
R9176:Il1r2 UTSW 1 40,144,478 (GRCm39) missense probably damaging 1.00
R9558:Il1r2 UTSW 1 40,162,422 (GRCm39) missense probably damaging 1.00
R9646:Il1r2 UTSW 1 40,162,362 (GRCm39) missense probably damaging 1.00
X0010:Il1r2 UTSW 1 40,157,141 (GRCm39) missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- GCTCTACACACATCATGCTCTG -3'
(R):5'- GATGTTTGCTTTCAGTGCCC -3'

Sequencing Primer
(F):5'- GCTCTGCATACATACATCATGC -3'
(R):5'- TGCTTTCAGTGCCCTACAAGAAG -3'
Posted On 2019-11-26