Incidental Mutation 'R4287:Il1rn'
ID 322048
Institutional Source Beutler Lab
Gene Symbol Il1rn
Ensembl Gene ENSMUSG00000026981
Gene Name interleukin 1 receptor antagonist
Synonyms F630041P17Rik, IL-1ra
MMRRC Submission 041652-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R4287 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 24226872-24241503 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24239557 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 151 (L151P)
Ref Sequence ENSEMBL: ENSMUSP00000110126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114482] [ENSMUST00000114485] [ENSMUST00000114487] [ENSMUST00000142093]
AlphaFold P25085
Predicted Effect probably damaging
Transcript: ENSMUST00000114482
AA Change: L151P

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000110126
Gene: ENSMUSG00000026981
AA Change: L151P

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
IL1 34 175 2.88e-70 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000114485
AA Change: L135P

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000110129
Gene: ENSMUSG00000026981
AA Change: L135P

DomainStartEndE-ValueType
IL1 18 159 2.88e-70 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000114487
AA Change: L132P

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000110131
Gene: ENSMUSG00000026981
AA Change: L132P

DomainStartEndE-ValueType
IL1 15 156 2.88e-70 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000142093
SMART Domains Protein: ENSMUSP00000141269
Gene: ENSMUSG00000026981

DomainStartEndE-ValueType
PDB:1IRP|A 8 50 1e-21 PDB
Blast:IL1 15 50 9e-20 BLAST
SCOP:d1ilr1_ 16 50 3e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143423
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 98% (40/41)
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 member of the interleukin 1 cytokine family. This protein inhibits the activities of interleukin 1, alpha (IL1A) and interleukin 1, beta (IL1B), and modulates a variety of interleukin 1 related immune and inflammatory responses. This gene and five other closely related cytokine genes form a gene cluster spanning approximately 400 kb on chromosome 2. A polymorphism of this gene is reported to be associated with increased risk of osteoporotic fractures and gastric cancer. Several alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jan 2016]
PHENOTYPE: Nullizygous mutations of this gene may result in decreased body weight, increased inflammatory response to turpentine and LPS, decreased susceptibility to bacterial infection, psoriasis, aortitis, rheumatoid arthritis, and abnormal dendritic and CD4-positive T cell morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc5 A G 5: 122,938,664 (GRCm39) V362A probably benign Het
Ash1l T A 3: 88,973,722 (GRCm39) C2594S probably damaging Het
Ccdc82 C A 9: 13,253,043 (GRCm39) Q303K probably benign Het
Cog1 A G 11: 113,544,853 (GRCm39) Y345C probably damaging Het
Fpgt T C 3: 154,796,997 (GRCm39) probably benign Het
Glrb A T 3: 80,752,539 (GRCm39) V408D possibly damaging Het
Gm7135 A G 1: 97,328,123 (GRCm39) noncoding transcript Het
Itgav G T 2: 83,555,184 (GRCm39) E36* probably null Het
Kidins220 G A 12: 25,106,845 (GRCm39) E1433K possibly damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Klra3 A G 6: 130,311,265 (GRCm39) C39R probably benign Het
Lce1i A G 3: 92,684,742 (GRCm39) S145P unknown Het
Memo1 T C 17: 74,562,293 (GRCm39) probably null Het
Mpp3 G A 11: 101,914,289 (GRCm39) A102V probably damaging Het
Mug2 T A 6: 122,040,632 (GRCm39) D727E probably benign Het
Ndufb8 T C 19: 44,541,130 (GRCm39) I107V probably benign Het
Or5h18 A T 16: 58,847,976 (GRCm39) M98K probably benign Het
Pnn C T 12: 59,118,956 (GRCm39) T513I possibly damaging Het
Ric8a A G 7: 140,441,335 (GRCm39) Y210C probably damaging Het
Ripor2 G A 13: 24,908,992 (GRCm39) V1037M probably damaging Het
Rreb1 A T 13: 38,115,907 (GRCm39) T1089S probably benign Het
Rrs1 C T 1: 9,616,440 (GRCm39) S231L probably damaging Het
Rrs1 C T 1: 9,616,448 (GRCm39) R234C possibly damaging Het
Sec23ip A G 7: 128,379,057 (GRCm39) D838G probably benign Het
Setbp1 T C 18: 78,902,276 (GRCm39) I464V probably benign Het
Slc25a51 C T 4: 45,399,768 (GRCm39) V141M probably benign Het
Slc41a3 A T 6: 90,617,904 (GRCm39) H310L probably benign Het
Smurf1 A G 5: 144,828,268 (GRCm39) S363P probably benign Het
Tln1 C T 4: 43,543,509 (GRCm39) R1269Q probably benign Het
Tmed3 A G 9: 89,586,951 (GRCm39) S10P probably benign Het
Tomm70a T G 16: 56,960,985 (GRCm39) Y313D probably damaging Het
Umodl1 A G 17: 31,207,039 (GRCm39) E810G probably benign Het
Unc5c T C 3: 141,420,435 (GRCm39) I52T probably damaging Het
Unc5d T A 8: 29,209,824 (GRCm39) Y432F probably benign Het
Vmn2r97 A T 17: 19,168,337 (GRCm39) probably benign Het
Zfp629 T C 7: 127,211,110 (GRCm39) Y233C probably damaging Het
Zfp986 T C 4: 145,619,088 (GRCm39) probably null Het
Other mutations in Il1rn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01516:Il1rn APN 2 24,239,551 (GRCm39) missense probably damaging 1.00
IGL02606:Il1rn APN 2 24,235,462 (GRCm39) intron probably benign
R1251:Il1rn UTSW 2 24,235,582 (GRCm39) missense probably damaging 1.00
R1943:Il1rn UTSW 2 24,238,611 (GRCm39) missense possibly damaging 0.94
R4284:Il1rn UTSW 2 24,239,557 (GRCm39) missense probably damaging 0.96
R4285:Il1rn UTSW 2 24,239,557 (GRCm39) missense probably damaging 0.96
R5317:Il1rn UTSW 2 24,239,554 (GRCm39) missense probably benign 0.30
R5322:Il1rn UTSW 2 24,238,641 (GRCm39) critical splice donor site probably null
R6662:Il1rn UTSW 2 24,226,887 (GRCm39) start gained probably null
R7427:Il1rn UTSW 2 24,239,554 (GRCm39) missense probably benign 0.16
R8821:Il1rn UTSW 2 24,239,505 (GRCm39) missense possibly damaging 0.74
R8831:Il1rn UTSW 2 24,239,505 (GRCm39) missense possibly damaging 0.74
Predicted Primers PCR Primer
(F):5'- GCCACAAGCATGAGTTTGTTG -3'
(R):5'- CACCCTGCAAAAGTTGTTCC -3'

Sequencing Primer
(F):5'- CAATGGACAGGAACACCTTTTAG -3'
(R):5'- GCAAAAGTTGTTCCTCAGGC -3'
Posted On 2015-06-20