Incidental Mutation 'R8821:Il1rn'
ID 673019
Institutional Source Beutler Lab
Gene Symbol Il1rn
Ensembl Gene ENSMUSG00000026981
Gene Name interleukin 1 receptor antagonist
Synonyms F630041P17Rik, IL-1ra
MMRRC Submission 068654-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R8821 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 24226872-24241503 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 24239505 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 134 (T134S)
Ref Sequence ENSEMBL: ENSMUSP00000110126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114482] [ENSMUST00000114485] [ENSMUST00000114487] [ENSMUST00000142093]
AlphaFold P25085
Predicted Effect possibly damaging
Transcript: ENSMUST00000114482
AA Change: T134S

PolyPhen 2 Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000110126
Gene: ENSMUSG00000026981
AA Change: T134S

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
IL1 34 175 2.88e-70 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000114485
AA Change: T118S

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110129
Gene: ENSMUSG00000026981
AA Change: T118S

DomainStartEndE-ValueType
IL1 18 159 2.88e-70 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000114487
AA Change: T115S

PolyPhen 2 Score 0.698 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000110131
Gene: ENSMUSG00000026981
AA Change: T115S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (74/74)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A230072I06Rik A T 8: 12,329,688 (GRCm39) I48L unknown Het
Abca8a A T 11: 109,949,362 (GRCm39) I927K probably damaging Het
Abcc3 A C 11: 94,241,787 (GRCm39) C1415G probably damaging Het
Abcf3 C T 16: 20,369,214 (GRCm39) R205C probably damaging Het
Aldh3a1 A G 11: 61,107,142 (GRCm39) Y282C probably damaging Het
Alyref CCCGCGCGGCGGCCTGCACTGCGCCGCCGCGGCCGCCCTGGGAGCCGGCCCTGCCGCG CCCGCG 11: 120,489,023 (GRCm39) probably null Het
Arfgef3 A G 10: 18,528,491 (GRCm39) S299P possibly damaging Het
Asic2 A T 11: 81,858,726 (GRCm39) N95K probably damaging Het
Atp2c2 A G 8: 120,476,033 (GRCm39) probably null Het
Btbd18 A G 2: 84,497,601 (GRCm39) D413G probably damaging Het
C8b A G 4: 104,647,874 (GRCm39) Y355C probably damaging Het
Carm1 A G 9: 21,491,663 (GRCm39) E244G probably damaging Het
Castor2 T A 5: 134,164,092 (GRCm39) V96E possibly damaging Het
Catsperg1 A T 7: 28,904,361 (GRCm39) probably benign Het
Cish T A 9: 107,177,671 (GRCm39) F116I probably damaging Het
Ckmt1 G A 2: 121,191,302 (GRCm39) probably benign Het
Clasrp C T 7: 19,320,362 (GRCm39) R432H unknown Het
Clstn1 G A 4: 149,730,780 (GRCm39) R837Q probably benign Het
Col27a1 A G 4: 63,143,148 (GRCm39) T279A probably benign Het
Cox10 A G 11: 63,855,306 (GRCm39) F325S probably damaging Het
Cpne5 T C 17: 29,430,668 (GRCm39) I81V probably benign Het
Ctps1 A T 4: 120,424,507 (GRCm39) S36T possibly damaging Het
Dchs2 T C 3: 83,192,670 (GRCm39) L1705P probably benign Het
Dcstamp A G 15: 39,618,185 (GRCm39) H198R probably benign Het
Dhx58 T A 11: 100,594,806 (GRCm39) K30M probably damaging Het
Dnah1 C T 14: 31,018,455 (GRCm39) A1392T probably benign Het
Dnah14 C A 1: 181,619,569 (GRCm39) Y3964* probably null Het
Dnah8 T C 17: 31,013,712 (GRCm39) S3818P probably damaging Het
Dnmt3b T A 2: 153,518,734 (GRCm39) N632K probably benign Het
Drc7 G A 8: 95,788,845 (GRCm39) R301Q probably damaging Het
Dsg1a T C 18: 20,453,365 (GRCm39) V21A probably damaging Het
Dtd1 T C 2: 144,459,261 (GRCm39) L95P probably benign Het
Efhb A T 17: 53,707,772 (GRCm39) probably benign Het
Fam186b T A 15: 99,178,733 (GRCm39) M198L possibly damaging Het
Fam193a A G 5: 34,616,374 (GRCm39) T850A probably benign Het
Fan1 G A 7: 64,004,249 (GRCm39) P739L probably damaging Het
Flii A T 11: 60,616,074 (GRCm39) N28K probably benign Het
Fmo3 T C 1: 162,796,407 (GRCm39) Y55C probably damaging Het
Gfi1 G A 5: 107,868,138 (GRCm39) R377C probably damaging Het
Gm9195 C T 14: 72,717,536 (GRCm39) E266K possibly damaging Het
Hdac1-ps T A 17: 78,799,969 (GRCm39) L320Q probably damaging Het
Helz A T 11: 107,525,919 (GRCm39) M825L probably damaging Het
Hsd3b9 A T 3: 98,354,047 (GRCm39) W151R probably benign Het
Ift80 G A 3: 68,869,583 (GRCm39) A236V probably damaging Het
Imp4 T C 1: 34,483,445 (GRCm39) M257T probably benign Het
Impdh2 T C 9: 108,441,957 (GRCm39) L377S probably damaging Het
Kcnrg T C 14: 61,844,981 (GRCm39) V7A possibly damaging Het
Kdm1b C A 13: 47,217,617 (GRCm39) L359I possibly damaging Het
Lima1 T A 15: 99,704,306 (GRCm39) T288S probably benign Het
Lrrc37 A T 11: 103,510,470 (GRCm39) D499E unknown Het
Lrrc4c A T 2: 97,460,040 (GRCm39) D222V possibly damaging Het
Mybpc3 T A 2: 90,948,524 (GRCm39) V4E probably null Het
Ncor1 A T 11: 62,260,234 (GRCm39) D505E probably benign Het
Nell1 A G 7: 50,476,097 (GRCm39) S579G probably damaging Het
Npc1 T A 18: 12,333,877 (GRCm39) M735L probably benign Het
Or1j13 G A 2: 36,369,794 (GRCm39) T116I possibly damaging Het
Or2at4 A G 7: 99,384,893 (GRCm39) H181R possibly damaging Het
Or4a73 A G 2: 89,420,880 (GRCm39) I193T probably damaging Het
Pcdhb12 A G 18: 37,570,386 (GRCm39) M511V probably benign Het
Peli2 G A 14: 48,490,130 (GRCm39) E201K possibly damaging Het
Phf3 T A 1: 30,860,347 (GRCm39) K828* probably null Het
Pih1d1 A G 7: 44,806,196 (GRCm39) D44G possibly damaging Het
Prag1 A T 8: 36,613,891 (GRCm39) T1148S probably benign Het
Ptpn18 A T 1: 34,511,271 (GRCm39) R338W probably null Het
Slc7a6os A T 8: 106,937,189 (GRCm39) D90E probably benign Het
Sp7 T A 15: 102,267,227 (GRCm39) H211L possibly damaging Het
Ssh3 A G 19: 4,319,053 (GRCm39) V19A possibly damaging Het
Tcp11l2 A G 10: 84,449,522 (GRCm39) I496V probably damaging Het
Tenm3 C T 8: 48,729,417 (GRCm39) A1530T Het
Tmem232 A G 17: 65,743,367 (GRCm39) L308P probably damaging Het
Tulp4 A G 17: 6,189,409 (GRCm39) N77S probably damaging Het
Unc13d AATGCCTCCCATGCC AATGCCTCCCATGCCTCCCATGCC 11: 115,958,998 (GRCm39) probably benign Het
Usp48 A T 4: 137,341,080 (GRCm39) D360V probably damaging Het
Vmn2r84 G A 10: 130,226,968 (GRCm39) A290V probably benign Het
Zfp1007 A T 5: 109,824,174 (GRCm39) S425R probably benign Het
Zfp512b T C 2: 181,228,525 (GRCm39) N738S 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
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
R8831:Il1rn UTSW 2 24,239,505 (GRCm39) missense possibly damaging 0.74
Predicted Primers PCR Primer
(F):5'- TAGCCACAAGCATGAGTTTGTTG -3'
(R):5'- CTGCAAAAGTTGTTCCTCAGGC -3'

Sequencing Primer
(F):5'- GTTGATAACTCTTACCAATGGACAGG -3'
(R):5'- CCCAATGATGGCCAGAGTGATC -3'
Posted On 2021-04-30