Incidental Mutation 'R8356:Il18rap'
ID 660310
Institutional Source Beutler Lab
Gene Symbol Il18rap
Ensembl Gene ENSMUSG00000026068
Gene Name interleukin 18 receptor accessory protein
Synonyms AcPL accessory protein-like)
MMRRC Submission 067870-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8356 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 40554522-40590865 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 40564084 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 67 (S67R)
Ref Sequence ENSEMBL: ENSMUSP00000027237 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027237]
AlphaFold Q9Z2B1
Predicted Effect probably benign
Transcript: ENSMUST00000027237
AA Change: S67R

PolyPhen 2 Score 0.283 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000027237
Gene: ENSMUSG00000026068
AA Change: S67R

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (58/58)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700069L16Rik T A 5: 113,861,868 (GRCm39) M1L unknown Het
Abcc9 A T 6: 142,536,096 (GRCm39) M1546K probably benign Het
Acbd3 T C 1: 180,553,881 (GRCm39) M72T probably benign Het
Adam6a T G 12: 113,509,757 (GRCm39) L710R probably benign Het
Aldh4a1 T C 4: 139,365,833 (GRCm39) S275P probably benign Het
Ap3d1 A T 10: 80,568,737 (GRCm39) L47Q probably damaging Het
Arhgap19 G A 19: 41,762,615 (GRCm39) R414C probably damaging Het
Ascc3 T C 10: 50,526,003 (GRCm39) S572P probably benign Het
Cdk10 G A 8: 123,955,096 (GRCm39) R78H probably benign Het
Celsr2 C T 3: 108,320,847 (GRCm39) R655H possibly damaging Het
Cntnap2 T A 6: 47,026,307 (GRCm39) H44Q probably benign Het
Cpped1 A T 16: 11,712,793 (GRCm39) C32* probably null Het
Ddi1 A G 9: 6,266,249 (GRCm39) V40A probably benign Het
Ddx50 T C 10: 62,457,287 (GRCm39) T588A probably benign Het
Degs2 A G 12: 108,658,223 (GRCm39) I252T possibly damaging Het
Dnah1 C T 14: 30,994,972 (GRCm39) V2762I probably benign Het
Dnah5 A G 15: 28,444,313 (GRCm39) D4037G probably benign Het
Dnah5 C T 15: 28,444,469 (GRCm39) A4089V probably null Het
Dthd1 A T 5: 63,007,081 (GRCm39) D594V probably damaging Het
Ehmt1 A T 2: 24,742,781 (GRCm39) M466K probably benign Het
Erich2 A T 2: 70,357,873 (GRCm39) probably null Het
Fam221b T C 4: 43,665,519 (GRCm39) D313G probably benign Het
Fbxl22 T C 9: 66,421,732 (GRCm39) D35G possibly damaging Het
Ggcx A G 6: 72,406,574 (GRCm39) E679G probably benign Het
Gm14295 A G 2: 176,501,307 (GRCm39) T266A probably benign Het
Hnrnpa1 A G 15: 103,150,529 (GRCm39) D160G probably null Het
Hnrnpul1 T C 7: 25,422,247 (GRCm39) probably benign Het
Hydin A G 8: 111,259,756 (GRCm39) E2576G possibly damaging Het
Ifit2 T A 19: 34,550,908 (GRCm39) C149* probably null Het
Kcnk4 T G 19: 6,903,668 (GRCm39) S294R probably benign Het
Kif21b A G 1: 136,100,683 (GRCm39) H1588R probably damaging Het
Klhl35 A T 7: 99,122,129 (GRCm39) S77C probably damaging Het
Lats2 A T 14: 57,934,867 (GRCm39) M228K probably damaging Het
Lrfn4 T C 19: 4,662,256 (GRCm39) D587G probably benign Het
Lrrd1 C A 5: 3,916,509 (GRCm39) T842K probably benign Het
Mafb G A 2: 160,208,125 (GRCm39) H158Y probably benign Het
Mapk8ip3 T A 17: 25,123,925 (GRCm39) E561D probably damaging Het
Mcemp1 A G 8: 3,717,542 (GRCm39) T158A probably damaging Het
Mst1r A T 9: 107,794,463 (GRCm39) E1214V probably damaging Het
Muc16 A G 9: 18,570,074 (GRCm39) I815T unknown Het
Ncoa6 T A 2: 155,248,172 (GRCm39) I1711L possibly damaging Het
Neo1 G A 9: 58,785,402 (GRCm39) T1408M probably damaging Het
Niban1 T A 1: 151,571,901 (GRCm39) V282D probably damaging Het
Nnt A C 13: 119,476,368 (GRCm39) F632C probably damaging Het
Nup210 G A 6: 91,051,330 (GRCm39) T351I probably benign Het
Or4f59 A G 2: 111,872,943 (GRCm39) S145P probably damaging Het
Or52e18 A G 7: 104,609,934 (GRCm39) S2P probably benign Het
P4ha1 C T 10: 59,191,185 (GRCm39) T364I probably damaging Het
Pcdhb11 T A 18: 37,555,252 (GRCm39) L194Q probably damaging Het
Pramel52-ps A G 5: 94,531,703 (GRCm39) K196E probably damaging Het
Rad51ap1 A G 6: 126,901,879 (GRCm39) probably null Het
Rbm11 G A 16: 75,397,694 (GRCm39) R208K probably benign Het
Rps6ka1 T A 4: 133,587,368 (GRCm39) Q535L possibly damaging Het
Slc26a3 A G 12: 31,516,505 (GRCm39) D621G probably benign Het
Sox10 T G 15: 79,040,652 (GRCm39) E296A probably damaging Het
St3gal4 A C 9: 34,964,438 (GRCm39) V188G probably damaging Het
Trim34a A T 7: 103,910,178 (GRCm39) I327F probably damaging Het
Ttc28 G A 5: 111,381,207 (GRCm39) D1240N probably benign Het
Zc2hc1c A G 12: 85,337,471 (GRCm39) E376G probably damaging Het
Zfp423 G A 8: 88,509,910 (GRCm39) P77S probably damaging Het
Zfp560 A T 9: 20,260,231 (GRCm39) S210R probably benign 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
R0358:Il18rap UTSW 1 40,588,202 (GRCm39) missense possibly damaging 0.53
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
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'- GGAATTCCGCCTTCTAATGTG -3'
(R):5'- CTGGGATGATTTGAGGACGTAC -3'

Sequencing Primer
(F):5'- GAATTCCGCCTTCTAATGTGTTTCTC -3'
(R):5'- GGACGTACCTAATTCTGGGTCTAC -3'
Posted On 2021-01-18