Incidental Mutation 'IGL01729:Il1r1'
ID 105395
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il1r1
Ensembl Gene ENSMUSG00000026072
Gene Name interleukin 1 receptor, type I
Synonyms IL-iR, IL-1R1, Il1r-1, CD121a, IL-1 receptor alpha chain
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # IGL01729
Quality Score
Status
Chromosome 1
Chromosomal Location 40264240-40356417 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 40333986 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 185 (N185K)
Ref Sequence ENSEMBL: ENSMUSP00000110443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027241] [ENSMUST00000114795]
AlphaFold P13504
Predicted Effect probably damaging
Transcript: ENSMUST00000027241
AA Change: N188K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027241
Gene: ENSMUSG00000026072
AA Change: N188K

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IG 38 117 2.94e-1 SMART
IG_like 132 218 5.56e0 SMART
IG 236 333 1.35e0 SMART
Blast:TIR 347 381 1e-7 BLAST
TIR 387 544 1.93e-29 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114795
AA Change: N185K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110443
Gene: ENSMUSG00000026072
AA Change: N185K

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
IG 35 114 2.94e-1 SMART
IG_like 129 215 5.56e0 SMART
IG 233 330 1.35e0 SMART
Blast:TIR 344 378 1e-7 BLAST
TIR 384 541 1.93e-29 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytokine receptor that belongs to the interleukin-1 receptor family. The encoded protein is a receptor for interleukin-1 alpha, interleukin-1 beta, and interleukin-1 receptor antagonist. It is an important mediator involved in many cytokine-induced immune and inflammatory responses. This gene is located in a cluster of related cytokine receptor genes on chromosome 2q12. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to bacterial infection, reduced IL1b responsiveness, delayed tooth eruption, decreased susceptibility to experimental autoimmune uveoritinitis, decreased susceptibility to kidney reperfusion injury, and late onset obesity. [provided by MGI curators]
Allele List at MGI

All alleles(3) : Targeted, knock-out(2) Gene trapped(1)

Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4galt A G 15: 83,112,526 (GRCm39) F86L probably damaging Het
Acer3 A G 7: 97,866,072 (GRCm39) V217A probably benign Het
Adcy10 T C 1: 165,340,737 (GRCm39) probably null Het
Adcy8 C T 15: 64,678,511 (GRCm39) V481I probably damaging Het
Ano3 C T 2: 110,611,739 (GRCm39) probably null Het
Arhgap23 C T 11: 97,344,787 (GRCm39) T583I probably damaging Het
Atp2a1 A G 7: 126,057,106 (GRCm39) L173P probably damaging Het
Clgn T C 8: 84,124,279 (GRCm39) W74R probably damaging Het
Clstn3 T C 6: 124,426,753 (GRCm39) S523G probably benign Het
Dnah10 A C 5: 124,864,529 (GRCm39) K2245Q probably benign Het
Dsg1b G T 18: 20,538,295 (GRCm39) V634L possibly damaging Het
Dzip3 A T 16: 48,748,726 (GRCm39) V864E possibly damaging Het
Ear2 A T 14: 44,340,701 (GRCm39) R120* probably null Het
Fam171b T C 2: 83,685,881 (GRCm39) probably benign Het
Fam186b G A 15: 99,178,132 (GRCm39) S398L probably benign Het
Gabrp T C 11: 33,502,689 (GRCm39) K392E probably damaging Het
Gm10355 G A 3: 101,213,999 (GRCm39) noncoding transcript Het
Gm3424 T C 14: 17,337,188 (GRCm39) Y90C probably damaging Het
Gm8165 A G 14: 43,910,186 (GRCm39) V212A unknown Het
Grm7 G A 6: 111,223,145 (GRCm39) R395Q probably benign Het
Jam3 A G 9: 27,016,821 (GRCm39) F80L probably damaging Het
Map1s T C 8: 71,365,712 (GRCm39) Y206H probably damaging Het
Mroh7 A G 4: 106,561,402 (GRCm39) Y614H possibly damaging Het
Ntmt2 T A 1: 163,552,572 (GRCm39) D18V probably damaging Het
Pate2 T C 9: 35,581,888 (GRCm39) Y61H probably damaging Het
Prox1 T A 1: 189,893,372 (GRCm39) T358S probably benign Het
Prpf6 T A 2: 181,296,710 (GRCm39) D876E probably damaging Het
Rpf1 G A 3: 146,212,904 (GRCm39) R311C probably damaging Het
Rpusd2 T A 2: 118,865,837 (GRCm39) V178D probably damaging Het
Stx2 A G 5: 129,068,042 (GRCm39) F222L probably benign Het
Themis T A 10: 28,637,587 (GRCm39) Y230* probably null Het
Tmem132e T C 11: 82,325,942 (GRCm39) L314P possibly damaging Het
Tmtc3 T C 10: 100,283,017 (GRCm39) E846G probably benign Het
Trem1 T C 17: 48,551,603 (GRCm39) V88A possibly damaging Het
Trim21 G A 7: 102,213,100 (GRCm39) A66V probably damaging Het
Trip4 A C 9: 65,782,174 (GRCm39) V186G probably benign Het
Vps9d1 T C 8: 123,973,739 (GRCm39) E348G probably damaging Het
Xrn2 T C 2: 146,878,717 (GRCm39) probably null Het
Zfp36 A G 7: 28,077,888 (GRCm39) S7P probably damaging Het
Other mutations in Il1r1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01457:Il1r1 APN 1 40,352,330 (GRCm39) missense probably damaging 1.00
IGL01532:Il1r1 APN 1 40,334,088 (GRCm39) critical splice donor site probably null
IGL01610:Il1r1 APN 1 40,341,560 (GRCm39) missense probably benign 0.09
IGL01668:Il1r1 APN 1 40,352,489 (GRCm39) missense probably benign 0.31
IGL02201:Il1r1 APN 1 40,352,428 (GRCm39) missense probably damaging 0.97
IGL02229:Il1r1 APN 1 40,352,518 (GRCm39) missense probably damaging 0.99
IGL02428:Il1r1 APN 1 40,352,392 (GRCm39) missense possibly damaging 0.74
IGL02902:Il1r1 APN 1 40,341,569 (GRCm39) missense probably benign 0.09
G5030:Il1r1 UTSW 1 40,352,323 (GRCm39) missense possibly damaging 0.80
R0604:Il1r1 UTSW 1 40,321,406 (GRCm39) missense probably benign 0.36
R1515:Il1r1 UTSW 1 40,332,509 (GRCm39) nonsense probably null
R1530:Il1r1 UTSW 1 40,351,521 (GRCm39) missense probably benign 0.00
R1727:Il1r1 UTSW 1 40,332,424 (GRCm39) missense probably benign 0.16
R1957:Il1r1 UTSW 1 40,352,300 (GRCm39) nonsense probably null
R2163:Il1r1 UTSW 1 40,334,023 (GRCm39) missense probably benign 0.00
R2313:Il1r1 UTSW 1 40,352,470 (GRCm39) missense probably benign 0.19
R4345:Il1r1 UTSW 1 40,337,084 (GRCm39) missense probably benign 0.00
R4622:Il1r1 UTSW 1 40,351,580 (GRCm39) missense probably damaging 0.96
R4735:Il1r1 UTSW 1 40,332,455 (GRCm39) missense probably benign 0.00
R5033:Il1r1 UTSW 1 40,332,684 (GRCm39) missense probably damaging 1.00
R5586:Il1r1 UTSW 1 40,264,411 (GRCm39) start gained probably benign
R6375:Il1r1 UTSW 1 40,334,050 (GRCm39) missense probably damaging 1.00
R6383:Il1r1 UTSW 1 40,352,495 (GRCm39) missense possibly damaging 0.58
R6618:Il1r1 UTSW 1 40,339,971 (GRCm39) missense probably damaging 0.97
R7169:Il1r1 UTSW 1 40,332,519 (GRCm39) critical splice donor site probably null
R7384:Il1r1 UTSW 1 40,321,421 (GRCm39) missense possibly damaging 0.64
R7798:Il1r1 UTSW 1 40,349,526 (GRCm39) missense probably benign
R8040:Il1r1 UTSW 1 40,352,509 (GRCm39) missense probably benign 0.01
R8129:Il1r1 UTSW 1 40,341,447 (GRCm39) missense probably benign 0.04
R9158:Il1r1 UTSW 1 40,332,391 (GRCm39) nonsense probably null
R9643:Il1r1 UTSW 1 40,341,532 (GRCm39) missense probably damaging 1.00
R9723:Il1r1 UTSW 1 40,332,721 (GRCm39) missense probably benign 0.00
R9748:Il1r1 UTSW 1 40,349,496 (GRCm39) missense probably benign
RF007:Il1r1 UTSW 1 40,352,438 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21