Incidental Mutation 'BB016:Il18rap'
ID 642871
Institutional Source Beutler Lab
Gene Symbol Il18rap
Ensembl Gene ENSMUSG00000026068
Gene Name interleukin 18 receptor accessory protein
Synonyms AcPL accessory protein-like)
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # BB016
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 40554522-40590865 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 40570740 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 227 (N227K)
Ref Sequence ENSEMBL: ENSMUSP00000027237 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027237]
AlphaFold Q9Z2B1
Predicted Effect probably damaging
Transcript: ENSMUST00000027237
AA Change: N227K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027237
Gene: ENSMUSG00000026068
AA Change: N227K

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410137M14Rik T A 17: 37,289,412 (GRCm39) I105F possibly damaging Het
Adprhl1 C T 8: 13,298,682 (GRCm39) V83I probably damaging Het
Adra1d G T 2: 131,403,600 (GRCm39) C163* probably null Het
Ak9 A G 10: 41,259,944 (GRCm39) D874G Het
Akap8 A T 17: 32,528,419 (GRCm39) S498T probably damaging Het
Alyref2 C G 1: 171,331,407 (GRCm39) F61L probably benign Het
Ank1 A T 8: 23,606,123 (GRCm39) I1172F probably damaging Het
Ankrd50 A T 3: 38,511,258 (GRCm39) F370I probably damaging Het
Apip A C 2: 102,913,366 (GRCm39) T41P probably benign Het
Atg4d G A 9: 21,178,260 (GRCm39) R126Q probably null Het
Ccdc86 A G 19: 10,926,183 (GRCm39) S139P unknown Het
Ceacam16 A G 7: 19,587,556 (GRCm39) L404P probably damaging Het
Dennd3 G T 15: 73,436,423 (GRCm39) V1010L probably damaging Het
Disp1 A G 1: 182,917,103 (GRCm39) S108P probably benign Het
Ecpas A G 4: 58,869,554 (GRCm39) C238R probably damaging Het
Ephb2 A G 4: 136,388,195 (GRCm39) V635A probably damaging Het
G530012D18Rik C G 1: 85,504,935 (GRCm39) D113E unknown Het
Gars1 A G 6: 55,040,102 (GRCm39) H343R probably damaging Het
Gli2 A T 1: 118,769,772 (GRCm39) N593K possibly damaging Het
Il4ra T C 7: 125,174,348 (GRCm39) S297P probably benign Het
Itprid1 G A 6: 55,874,946 (GRCm39) V299M probably damaging Het
Jak1 A T 4: 101,011,842 (GRCm39) F1087I probably damaging Het
Klf16 A G 10: 80,412,698 (GRCm39) S113P probably benign Het
Klhl30 A T 1: 91,283,238 (GRCm39) E280V possibly damaging Het
Kti12 A C 4: 108,705,443 (GRCm39) E119A probably benign Het
Kti12 G T 4: 108,705,444 (GRCm39) E119D probably benign Het
Lama4 A G 10: 38,954,843 (GRCm39) H1132R probably damaging Het
Lmtk3 A G 7: 45,444,572 (GRCm39) D1085G unknown Het
Lrrc9 C A 12: 72,533,071 (GRCm39) T980K possibly damaging Het
Nceh1 A G 3: 27,333,396 (GRCm39) D164G probably benign Het
Nlrp2 A G 7: 5,330,498 (GRCm39) S633P probably damaging Het
Nxn A G 11: 76,164,863 (GRCm39) V216A possibly damaging Het
Odf4 A T 11: 68,813,759 (GRCm39) V143D possibly damaging Het
Or4d6 G A 19: 12,086,118 (GRCm39) T38I unknown Het
Pex12 A G 11: 83,188,809 (GRCm39) I62T probably damaging Het
Plekhg1 G A 10: 3,869,170 (GRCm39) D237N probably damaging Het
Rxrb T A 17: 34,255,645 (GRCm39) D377E probably benign Het
Ryr2 T A 13: 11,609,680 (GRCm39) D4382V probably damaging Het
Ryr2 T A 13: 11,705,181 (GRCm39) K2862* probably null Het
Ryr3 A G 2: 112,664,533 (GRCm39) L1606P probably benign Het
Samd3 A G 10: 26,127,813 (GRCm39) K270R probably damaging Het
Slc2a5 C A 4: 150,223,942 (GRCm39) F211L probably benign Het
Spata31 T A 13: 65,069,532 (GRCm39) V560D probably benign Het
Tbk1 A G 10: 121,393,138 (GRCm39) C471R probably benign Het
Tbx20 A T 9: 24,637,059 (GRCm39) S343T possibly damaging Het
Tesk2 A G 4: 116,659,452 (GRCm39) E304G probably benign Het
Tle1 A G 4: 72,118,239 (GRCm39) F2L possibly damaging Het
Tle4 G T 19: 14,495,244 (GRCm39) P162T probably benign Het
Ttn G A 2: 76,673,816 (GRCm39) P11172S unknown Het
Tulp1 T C 17: 28,572,746 (GRCm39) N470S possibly damaging Het
Unc13b A G 4: 43,174,399 (GRCm39) I1742M unknown Het
Vmn2r107 T G 17: 20,565,706 (GRCm39) I7S probably null Het
Vmn2r91 T G 17: 18,327,906 (GRCm39) I500R probably damaging Het
Xpnpep3 A G 15: 81,311,626 (GRCm39) I111V probably damaging Het
Zp3r T A 1: 130,519,217 (GRCm39) E308V 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
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
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'- AGACCAGATCAGTCCATGAGG -3'
(R):5'- GCAACACTTTAATGGTTGCCGG -3'

Sequencing Primer
(F):5'- CTGAAGCTTTGCTATGTGTGAAAAG -3'
(R):5'- CCGGTGTGTGGCTATCTC -3'
Posted On 2020-08-01