Incidental Mutation 'R5317:Il1rn'
ID 405860
Institutional Source Beutler Lab
Gene Symbol Il1rn
Ensembl Gene ENSMUSG00000026981
Gene Name interleukin 1 receptor antagonist
Synonyms F630041P17Rik, IL-1ra
MMRRC Submission 042900-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R5317 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 24226872-24241503 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 24239554 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 150 (T150I)
Ref Sequence ENSEMBL: ENSMUSP00000110126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114482] [ENSMUST00000114485] [ENSMUST00000114487] [ENSMUST00000142093]
AlphaFold P25085
Predicted Effect probably benign
Transcript: ENSMUST00000114482
AA Change: T150I

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000110126
Gene: ENSMUSG00000026981
AA Change: T150I

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
IL1 34 175 2.88e-70 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114485
AA Change: T134I

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000110129
Gene: ENSMUSG00000026981
AA Change: T134I

DomainStartEndE-ValueType
IL1 18 159 2.88e-70 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114487
AA Change: T131I

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000110131
Gene: ENSMUSG00000026981
AA Change: T131I

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.6%
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 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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arih1 A C 9: 59,300,619 (GRCm39) H542Q probably benign Het
Ccn4 T G 15: 66,789,131 (GRCm39) S206A probably benign Het
Cnot8 T C 11: 58,004,029 (GRCm39) S155P probably damaging Het
Dcc C T 18: 71,517,226 (GRCm39) E810K possibly damaging Het
Dmrt2 T C 19: 25,650,844 (GRCm39) V10A probably benign Het
Dnah17 G A 11: 118,018,109 (GRCm39) R129W possibly damaging Het
Eif4a3 G T 11: 119,185,490 (GRCm39) H117N probably damaging Het
Fhip2a T A 19: 57,370,141 (GRCm39) probably null Het
Gpr179 T A 11: 97,228,671 (GRCm39) Q1161H probably damaging Het
Grm1 T G 10: 10,622,443 (GRCm39) M427L possibly damaging Het
Grxcr2 T A 18: 42,131,916 (GRCm39) H51L probably damaging Het
Kcnc4 C T 3: 107,366,055 (GRCm39) R51H probably damaging Het
Kcnh3 T C 15: 99,125,822 (GRCm39) S160P probably benign Het
Lrrc37 T C 11: 103,504,971 (GRCm39) I2332M possibly damaging Het
Mcm9 G A 10: 53,414,330 (GRCm39) P250L probably damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mtmr2 T C 9: 13,704,475 (GRCm39) F201L probably benign Het
Or8s5 G A 15: 98,238,246 (GRCm39) A208V probably benign Het
Pan3 T C 5: 147,480,020 (GRCm39) probably null Het
Pcdhgb7 T A 18: 37,885,887 (GRCm39) D352E probably benign Het
Pdgfa A G 5: 138,974,102 (GRCm39) probably null Het
Pkhd1 T C 1: 20,520,528 (GRCm39) D1938G probably damaging Het
Plac8 C T 5: 100,704,345 (GRCm39) probably null Het
Rab11fip3 T C 17: 26,287,052 (GRCm39) E367G possibly damaging Het
Sgo2a C T 1: 58,054,683 (GRCm39) P289L probably benign Het
Slc22a18 T C 7: 143,052,896 (GRCm39) Y374H probably damaging Het
Slco2a1 T C 9: 102,956,778 (GRCm39) V530A probably benign Het
Spty2d1 A T 7: 46,648,049 (GRCm39) S293R possibly damaging Het
Stt3b G T 9: 115,081,578 (GRCm39) Y569* probably null Het
Tas2r140 A G 6: 133,032,543 (GRCm39) Y72H probably benign Het
Usp35 C T 7: 96,960,846 (GRCm39) R860H probably damaging Het
Vmn2r130 T A 17: 23,282,557 (GRCm39) M79K probably benign Het
Vsig10l T C 7: 43,114,247 (GRCm39) S190P probably damaging Het
Wwc2 C T 8: 48,300,590 (GRCm39) D958N unknown Het
Zfp318 AAGAAGG A 17: 46,723,463 (GRCm39) probably benign 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
R4287:Il1rn UTSW 2 24,239,557 (GRCm39) missense probably damaging 0.96
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'- AGAGGACTTTCTCAGCCCTC -3'
(R):5'- CTGAGGCAGAGATCTATCATCAG -3'

Sequencing Primer
(F):5'- CGGCAATTACCTGACCATTTCTTGAC -3'
(R):5'- GAGGCAGAGATCTATCATCAGAACTC -3'
Posted On 2016-07-22