Incidental Mutation 'R1943:Il1rn'
ID 216345
Institutional Source Beutler Lab
Gene Symbol Il1rn
Ensembl Gene ENSMUSG00000026981
Gene Name interleukin 1 receptor antagonist
Synonyms F630041P17Rik, IL-1ra
MMRRC Submission 039961-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R1943 (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 24238611 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 82 (S82P)
Ref Sequence ENSEMBL: ENSMUSP00000110129 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114482] [ENSMUST00000114485] [ENSMUST00000114487] [ENSMUST00000142093]
AlphaFold P25085
Predicted Effect possibly damaging
Transcript: ENSMUST00000114482
AA Change: S98P

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110126
Gene: ENSMUSG00000026981
AA Change: S98P

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
IL1 34 175 2.88e-70 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000114485
AA Change: S82P

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110129
Gene: ENSMUSG00000026981
AA Change: S82P

DomainStartEndE-ValueType
IL1 18 159 2.88e-70 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000114487
AA Change: S79P

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110131
Gene: ENSMUSG00000026981
AA Change: S79P

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: 94.3%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,645,506 (GRCm39) N1017S possibly damaging Het
Abca8a T C 11: 109,960,689 (GRCm39) I610V probably benign Het
Acp5 C T 9: 22,040,900 (GRCm39) V108M probably damaging Het
Adam23 T C 1: 63,516,916 (GRCm39) probably null Het
Adam34 T A 8: 44,103,864 (GRCm39) T594S possibly damaging Het
Adam34 A T 8: 44,104,852 (GRCm39) N264K probably damaging Het
Arsa G A 15: 89,357,742 (GRCm39) T407I probably damaging Het
Bicc1 A G 10: 70,995,353 (GRCm39) S32P probably damaging Het
Cacna1i T A 15: 80,279,245 (GRCm39) D1995E probably benign Het
Cemip2 G A 19: 21,825,404 (GRCm39) probably null Het
Chst15 A T 7: 131,864,579 (GRCm39) probably null Het
Cntnap4 T A 8: 113,542,128 (GRCm39) F754I probably benign Het
Cpz C T 5: 35,669,772 (GRCm39) E302K probably damaging Het
Daw1 A T 1: 83,186,987 (GRCm39) I371F possibly damaging Het
Dennd1b C A 1: 139,096,690 (GRCm39) probably benign Het
Dhtkd1 T G 2: 5,937,293 (GRCm39) Q73P probably benign Het
Dmgdh T C 13: 93,847,878 (GRCm39) I525T probably benign Het
Dst C A 1: 34,267,450 (GRCm39) T4964K possibly damaging Het
Ercc3 A G 18: 32,379,663 (GRCm39) Y290C probably damaging Het
Fh1 C T 1: 175,437,344 (GRCm39) V252I probably benign Het
Gm13199 C T 2: 5,867,517 (GRCm39) probably benign Het
Lama4 T C 10: 38,973,134 (GRCm39) V1567A possibly damaging Het
Lamtor4 A G 5: 138,254,054 (GRCm39) probably null Het
Llgl1 A G 11: 60,596,842 (GRCm39) N148D probably benign Het
Lmo7 G T 14: 102,139,738 (GRCm39) G774V probably damaging Het
Luzp2 A T 7: 54,914,050 (GRCm39) K293M possibly damaging Het
Mknk1 T C 4: 115,720,223 (GRCm39) V83A probably damaging Het
Mug2 T C 6: 122,056,598 (GRCm39) V1181A probably benign Het
Myo16 G A 8: 10,644,905 (GRCm39) D1746N possibly damaging Het
Or1ad8 A G 11: 50,898,502 (GRCm39) I234M probably benign Het
Or2aj4 A T 16: 19,385,187 (GRCm39) W149R probably benign Het
Osbpl3 A G 6: 50,297,054 (GRCm39) I548T probably benign Het
Parp14 A G 16: 35,656,499 (GRCm39) Y1676H probably damaging Het
Phtf1 A T 3: 103,901,198 (GRCm39) K416* probably null Het
Pmp2 T C 3: 10,247,570 (GRCm39) T40A probably benign Het
Ptpra T C 2: 130,386,024 (GRCm39) M541T probably damaging Het
Rapgef6 A G 11: 54,548,089 (GRCm39) I753V possibly damaging Het
Rdh14 T C 12: 10,441,162 (GRCm39) V108A probably benign Het
Rnf38 A T 4: 44,138,748 (GRCm39) H248Q probably damaging Het
Rsph6a A C 7: 18,808,001 (GRCm39) Y388S probably damaging Het
Ryr2 T C 13: 11,746,609 (GRCm39) D1981G probably benign Het
Sf3a3 A G 4: 124,609,694 (GRCm39) K97E possibly damaging Het
Shisa9 A G 16: 12,085,620 (GRCm39) T394A probably benign Het
Slc43a2 T A 11: 75,436,567 (GRCm39) probably null Het
Slc45a1 A G 4: 150,728,734 (GRCm39) F23S probably benign Het
Slc7a10 T A 7: 34,899,723 (GRCm39) V435E probably benign Het
Snx15 A G 19: 6,178,096 (GRCm39) Y28H probably damaging Het
Spef2 T G 15: 9,663,280 (GRCm39) K834Q possibly damaging Het
Tdpoz2 G T 3: 93,559,230 (GRCm39) Y247* probably null Het
Tedc2 G A 17: 24,436,923 (GRCm39) R271W possibly damaging Het
Tfr2 C A 5: 137,577,183 (GRCm39) H378Q probably benign Het
Tigit T A 16: 43,469,581 (GRCm39) H170L probably benign Het
Tmem62 A T 2: 120,817,107 (GRCm39) Q91L probably benign Het
Tmtc1 G T 6: 148,327,416 (GRCm39) C32* probably null Het
Txndc12 G A 4: 108,713,407 (GRCm39) V90I probably benign Het
Vmn2r93 C A 17: 18,546,063 (GRCm39) T645K probably benign Het
Vmn2r96 C T 17: 18,806,664 (GRCm39) T345I probably benign Het
Vps13d A T 4: 144,882,427 (GRCm39) D1055E probably benign Het
Xirp2 A G 2: 67,342,959 (GRCm39) I1733M probably benign Het
Zfp512b T C 2: 181,230,208 (GRCm39) H516R probably damaging Het
Zfp606 T C 7: 12,227,615 (GRCm39) S521P probably damaging Het
Zfp715 A T 7: 42,949,054 (GRCm39) V302E possibly 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
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
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'- GATAGAGCCTTCTTGACCTTCTTG -3'
(R):5'- AAGACCCATGGTGGTTCAGG -3'

Sequencing Primer
(F):5'- TCTTGACCTTCTTGACCTTCTAG -3'
(R):5'- AGTTGGTCACCACGCTTAAG -3'
Posted On 2014-08-01