Incidental Mutation 'R0358:Il18rap'
ID 29918
Institutional Source Beutler Lab
Gene Symbol Il18rap
Ensembl Gene ENSMUSG00000026068
Gene Name interleukin 18 receptor accessory protein
Synonyms AcPL accessory protein-like)
MMRRC Submission 038564-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0358 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 40554522-40590865 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 40588202 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 600 (H600L)
Ref Sequence ENSEMBL: ENSMUSP00000027237 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027237]
AlphaFold Q9Z2B1
Predicted Effect possibly damaging
Transcript: ENSMUST00000027237
AA Change: H600L

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000027237
Gene: ENSMUSG00000026068
AA Change: H600L

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Blast:IG_like 31 144 2e-36 BLAST
IG 159 240 2.94e0 SMART
IG 257 354 1.35e0 SMART
transmembrane domain 363 385 N/A INTRINSIC
TIR 406 561 3.68e-35 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160468
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.9%
  • 10x: 95.2%
  • 20x: 88.5%
Validation Efficiency 100% (64/64)
MGI Phenotype FUNCTION: Interleukin-18 (or interferon-gamma inducing factor) is a proinflammatory cytokine that induces cell-mediated immunity following microbial infection. This gene encodes a member of the interleukin-1 receptor family. The encoded protein is an accessory subunit of the receptor for interleukin-18 and mediates signaling through this cytokine. Mice lacking this gene exhibit a defective cell-mediated immune response. [provided by RefSeq, Jan 2014]
PHENOTYPE: Homozygous null mice exhibit defective IL-18-mediated immune responses such as the inability of splenocytes, T helper 1 cells and neutrophils to produce cytokines in response to IL-18. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513D11Rik G A 17: 79,935,585 (GRCm39) probably benign Het
Abca16 A T 7: 120,143,939 (GRCm39) K1651N probably benign Het
Abcb1b T C 5: 8,871,423 (GRCm39) S326P probably benign Het
Ache A G 5: 137,288,635 (GRCm39) T114A probably benign Het
Akap3 T A 6: 126,843,775 (GRCm39) V798D probably damaging Het
Ankle1 A G 8: 71,860,189 (GRCm39) T256A probably damaging Het
Aqp4 T C 18: 15,531,302 (GRCm39) N153S probably benign Het
Arhgap23 G A 11: 97,354,414 (GRCm39) V265M probably damaging Het
Arhgef25 A T 10: 127,020,322 (GRCm39) M326K probably damaging Het
Atp6v1c2 T C 12: 17,334,961 (GRCm39) probably benign Het
Cars1 A T 7: 143,142,219 (GRCm39) probably benign Het
Cep83 A T 10: 94,555,593 (GRCm39) M96L probably benign Het
Cfap46 A G 7: 139,231,449 (GRCm39) probably benign Het
Cnnm3 T A 1: 36,560,303 (GRCm39) S608T probably damaging Het
Cul7 G A 17: 46,974,670 (GRCm39) probably null Het
Dhrs2 G A 14: 55,473,574 (GRCm39) V78M probably damaging Het
Dhx38 A T 8: 110,279,094 (GRCm39) D1051E probably benign Het
Eftud2 A G 11: 102,755,627 (GRCm39) probably benign Het
Egln3 T C 12: 54,250,082 (GRCm39) E89G possibly damaging Het
Eif2ak4 A G 2: 118,294,410 (GRCm39) probably null Het
Fbxl17 G A 17: 63,663,846 (GRCm39) R67C probably damaging Het
Fsip2 A T 2: 82,813,677 (GRCm39) N3332I possibly damaging Het
Gbp2b A T 3: 142,312,550 (GRCm39) E311V probably damaging Het
Gcnt2 G T 13: 41,014,329 (GRCm39) A167S probably damaging Het
Gm9797 A T 10: 11,485,088 (GRCm39) noncoding transcript Het
Gpatch3 A G 4: 133,305,215 (GRCm39) probably null Het
Gpr22 T C 12: 31,759,981 (GRCm39) N47S probably benign Het
Larp7 A G 3: 127,340,737 (GRCm39) probably null Het
Mep1a A G 17: 43,789,841 (GRCm39) Y490H possibly damaging Het
Mrgprh T A 17: 13,096,237 (GRCm39) V159D probably damaging Het
Mylk G C 16: 34,699,845 (GRCm39) E403Q possibly damaging Het
Nrbp1 T A 5: 31,402,231 (GRCm39) I64N probably damaging Het
Nup214 G A 2: 31,894,312 (GRCm39) probably null Het
Or10d1b A G 9: 39,613,297 (GRCm39) I256T possibly damaging Het
Or13a21 G T 7: 139,998,856 (GRCm39) L277M probably damaging Het
Or2o1 T A 11: 49,051,071 (GRCm39) C77S probably benign Het
Or4k15b A T 14: 50,272,743 (GRCm39) L39Q probably damaging Het
Pef1 A G 4: 130,021,180 (GRCm39) T245A probably damaging Het
Phrf1 A G 7: 140,838,217 (GRCm39) probably benign Het
Ppig A G 2: 69,573,942 (GRCm39) probably benign Het
Ppp1r8 G T 4: 132,562,039 (GRCm39) F60L probably damaging Het
Psmd11 G A 11: 80,353,510 (GRCm39) probably benign Het
Ptk6 G T 2: 180,840,315 (GRCm39) H230Q probably benign Het
Ptprd T C 4: 75,863,226 (GRCm39) Y1496C probably damaging Het
Rhbdl3 G T 11: 80,244,457 (GRCm39) W388L probably damaging Het
Rnf130 T A 11: 49,962,109 (GRCm39) M185K probably benign Het
S100a13 A T 3: 90,423,299 (GRCm39) I97F probably damaging Het
Slc22a16 T G 10: 40,463,488 (GRCm39) probably null Het
Tcte1 A T 17: 45,846,211 (GRCm39) T272S probably benign Het
Terf1 T C 1: 15,876,062 (GRCm39) V54A possibly damaging Het
Tmem63a T A 1: 180,783,988 (GRCm39) N189K probably benign Het
Trim32 G A 4: 65,531,491 (GRCm39) R16Q probably damaging Het
Trim66 G A 7: 109,059,383 (GRCm39) Q954* probably null Het
Trpv4 A G 5: 114,768,493 (GRCm39) F525S probably damaging Het
Ttll7 A G 3: 146,649,871 (GRCm39) T634A probably benign Het
Tut7 T C 13: 59,929,918 (GRCm39) D47G probably damaging Het
Ush2a T G 1: 188,269,977 (GRCm39) N1741K possibly damaging Het
Wdr87-ps A T 7: 29,231,636 (GRCm39) noncoding transcript Het
Zfp451 T A 1: 33,816,810 (GRCm39) H163L probably damaging Het
Other mutations in Il18rap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00662:Il18rap APN 1 40,581,081 (GRCm39) missense probably benign 0.03
IGL01467:Il18rap APN 1 40,587,799 (GRCm39) missense probably damaging 1.00
IGL01505:Il18rap APN 1 40,576,244 (GRCm39) missense probably damaging 0.97
IGL02215:Il18rap APN 1 40,587,082 (GRCm39) missense probably damaging 1.00
IGL03307:Il18rap APN 1 40,582,227 (GRCm39) missense probably benign 0.01
BB006:Il18rap UTSW 1 40,570,740 (GRCm39) missense probably damaging 1.00
BB007:Il18rap UTSW 1 40,587,803 (GRCm39) missense probably damaging 0.99
BB016:Il18rap UTSW 1 40,570,740 (GRCm39) missense probably damaging 1.00
BB017:Il18rap UTSW 1 40,587,803 (GRCm39) missense probably damaging 0.99
R0136:Il18rap UTSW 1 40,564,218 (GRCm39) missense probably benign 0.04
R0299:Il18rap UTSW 1 40,564,218 (GRCm39) missense probably benign 0.04
R0499:Il18rap UTSW 1 40,564,218 (GRCm39) missense probably benign 0.04
R0830:Il18rap UTSW 1 40,582,150 (GRCm39) missense probably damaging 1.00
R1386:Il18rap UTSW 1 40,570,682 (GRCm39) missense probably benign 0.00
R1817:Il18rap UTSW 1 40,570,687 (GRCm39) missense probably benign 0.04
R1818:Il18rap UTSW 1 40,570,687 (GRCm39) missense probably benign 0.04
R1819:Il18rap UTSW 1 40,570,687 (GRCm39) missense probably benign 0.04
R3721:Il18rap UTSW 1 40,576,248 (GRCm39) missense probably damaging 1.00
R5634:Il18rap UTSW 1 40,578,536 (GRCm39) intron probably benign
R5663:Il18rap UTSW 1 40,570,717 (GRCm39) missense probably damaging 1.00
R5690:Il18rap UTSW 1 40,576,272 (GRCm39) missense possibly damaging 0.73
R5825:Il18rap UTSW 1 40,570,726 (GRCm39) missense probably benign 0.38
R6140:Il18rap UTSW 1 40,564,212 (GRCm39) missense probably benign 0.04
R6291:Il18rap UTSW 1 40,564,049 (GRCm39) missense probably benign 0.00
R6859:Il18rap UTSW 1 40,564,255 (GRCm39) nonsense probably null
R6992:Il18rap UTSW 1 40,581,195 (GRCm39) missense probably benign 0.00
R7317:Il18rap UTSW 1 40,564,536 (GRCm39) missense probably damaging 0.98
R7402:Il18rap UTSW 1 40,564,111 (GRCm39) missense probably benign 0.01
R7465:Il18rap UTSW 1 40,582,249 (GRCm39) missense probably damaging 1.00
R7561:Il18rap UTSW 1 40,563,537 (GRCm39) missense probably benign 0.00
R7929:Il18rap UTSW 1 40,570,740 (GRCm39) missense probably damaging 1.00
R7930:Il18rap UTSW 1 40,587,803 (GRCm39) missense probably damaging 0.99
R8151:Il18rap UTSW 1 40,564,428 (GRCm39) missense probably benign 0.00
R8201:Il18rap UTSW 1 40,578,429 (GRCm39) missense possibly damaging 0.75
R8356:Il18rap UTSW 1 40,564,084 (GRCm39) missense probably benign 0.28
R8701:Il18rap UTSW 1 40,578,501 (GRCm39) missense probably benign 0.01
R8870:Il18rap UTSW 1 40,564,280 (GRCm39) splice site probably benign
R8874:Il18rap UTSW 1 40,564,506 (GRCm39) missense probably damaging 1.00
R8911:Il18rap UTSW 1 40,582,177 (GRCm39) missense probably benign 0.43
R8912:Il18rap UTSW 1 40,582,177 (GRCm39) missense probably benign 0.43
R8913:Il18rap UTSW 1 40,582,177 (GRCm39) missense probably benign 0.43
R8914:Il18rap UTSW 1 40,582,177 (GRCm39) missense probably benign 0.43
R8958:Il18rap UTSW 1 40,582,177 (GRCm39) missense probably benign 0.43
R8959:Il18rap UTSW 1 40,582,177 (GRCm39) missense probably benign 0.43
R9024:Il18rap UTSW 1 40,582,177 (GRCm39) missense probably benign 0.43
R9135:Il18rap UTSW 1 40,582,177 (GRCm39) missense probably benign 0.43
R9136:Il18rap UTSW 1 40,582,177 (GRCm39) missense probably benign 0.43
R9137:Il18rap UTSW 1 40,582,177 (GRCm39) missense probably benign 0.43
R9138:Il18rap UTSW 1 40,582,177 (GRCm39) missense probably benign 0.43
R9194:Il18rap UTSW 1 40,582,177 (GRCm39) missense probably benign 0.43
R9197:Il18rap UTSW 1 40,582,177 (GRCm39) missense probably benign 0.43
R9198:Il18rap UTSW 1 40,582,177 (GRCm39) missense probably benign 0.43
R9200:Il18rap UTSW 1 40,582,177 (GRCm39) missense probably benign 0.43
R9201:Il18rap UTSW 1 40,582,177 (GRCm39) missense probably benign 0.43
R9218:Il18rap UTSW 1 40,582,177 (GRCm39) missense probably benign 0.43
R9353:Il18rap UTSW 1 40,587,088 (GRCm39) missense probably benign 0.02
R9465:Il18rap UTSW 1 40,582,177 (GRCm39) missense probably benign 0.43
R9466:Il18rap UTSW 1 40,582,177 (GRCm39) missense probably benign 0.43
R9535:Il18rap UTSW 1 40,586,990 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCTACAAGCAGCAGTGAATCTTGCC -3'
(R):5'- ACCACAGATGCCGCTTCATTCC -3'

Sequencing Primer
(F):5'- CTTGTCAAAAAGGCTCTGCG -3'
(R):5'- ATTCCACTGCCTGTCAAGC -3'
Posted On 2013-04-24