Incidental Mutation 'R4285:Il1rn'
ID 322010
Institutional Source Beutler Lab
Gene Symbol Il1rn
Ensembl Gene ENSMUSG00000026981
Gene Name interleukin 1 receptor antagonist
Synonyms F630041P17Rik, IL-1ra
MMRRC Submission 041080-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R4285 (G1)
Quality Score 225
Status Not 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: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 98% (42/43)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl G A 3: 116,545,827 (GRCm39) S1323L possibly damaging Het
Ahnak T A 19: 8,994,203 (GRCm39) C5162* probably null Het
Carmil3 GGACGA GGA 14: 55,736,933 (GRCm39) probably benign Het
Cfap73 T C 5: 120,770,654 (GRCm39) K39E possibly damaging Het
Coq6 C T 12: 84,417,178 (GRCm39) probably benign Het
Dlc1 C T 8: 37,041,282 (GRCm39) E1316K possibly damaging Het
Dscam A G 16: 96,510,309 (GRCm39) probably null Het
Eya2 T A 2: 165,566,700 (GRCm39) N250K probably benign Het
Fat4 A G 3: 38,943,320 (GRCm39) I738V probably benign Het
Gria2 T G 3: 80,614,969 (GRCm39) probably benign Het
Hnrnph3 A T 10: 62,852,247 (GRCm39) D238E probably damaging Het
Kctd19 G A 8: 106,109,581 (GRCm39) probably benign Het
Kdm1a T C 4: 136,309,347 (GRCm39) probably null Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lamc1 C A 1: 153,110,298 (GRCm39) G1126W probably damaging Het
Magi3 C A 3: 103,923,184 (GRCm39) G1178* probably null Het
Man2a2 T C 7: 80,018,367 (GRCm39) D141G probably damaging Het
Map2k1 C A 9: 64,119,925 (GRCm39) V127L probably damaging Het
Memo1 T C 17: 74,562,293 (GRCm39) probably null Het
Mxd3 A G 13: 55,477,167 (GRCm39) S31P probably benign Het
Myo5b G A 18: 74,847,920 (GRCm39) E1053K probably benign Het
Nup50l T C 6: 96,142,733 (GRCm39) T104A probably benign Het
Or2m12 A C 16: 19,104,714 (GRCm39) F260V probably damaging Het
Or51a5 G T 7: 102,771,867 (GRCm39) Y37* probably null Het
Pex5l A G 3: 33,061,336 (GRCm39) I171T probably damaging Het
Plag1 A G 4: 3,905,654 (GRCm39) V12A probably benign Het
Podn C A 4: 107,878,893 (GRCm39) V180L possibly damaging Het
Prox2 T A 12: 85,141,698 (GRCm39) R168S probably benign Het
Prss29 A G 17: 25,541,231 (GRCm39) Y225C probably damaging Het
Rassf2 G A 2: 131,847,314 (GRCm39) T97I probably benign Het
Samm50 T C 15: 84,081,213 (GRCm39) V47A probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slc20a2 G A 8: 23,051,365 (GRCm39) R466Q probably benign Het
Slc25a51 C T 4: 45,399,768 (GRCm39) V141M probably benign Het
St6galnac3 A C 3: 152,912,360 (GRCm39) V161G probably benign Het
Unc5c T C 3: 141,420,435 (GRCm39) I52T probably damaging Het
Vat1l A G 8: 114,932,523 (GRCm39) E23G probably damaging Het
Vmn2r91 A G 17: 18,356,030 (GRCm39) T566A probably benign Het
Wls A T 3: 159,639,902 (GRCm39) H511L probably benign Het
Zfp644 G A 5: 106,782,984 (GRCm39) T1130I probably damaging 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
R4287: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'- TAGAGGACTTTCTCAGCCCTC -3'
(R):5'- CTGAGGCAGAGATCTATCATCAG -3'

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