Incidental Mutation 'R3721:Il18rap'
ID 258883
Institutional Source Beutler Lab
Gene Symbol Il18rap
Ensembl Gene ENSMUSG00000026068
Gene Name interleukin 18 receptor accessory protein
Synonyms AcPL accessory protein-like)
MMRRC Submission 040712-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3721 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 40554522-40590865 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 40576248 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 253 (L253Q)
Ref Sequence ENSEMBL: ENSMUSP00000027237 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027237]
AlphaFold Q9Z2B1
Predicted Effect probably damaging
Transcript: ENSMUST00000027237
AA Change: L253Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027237
Gene: ENSMUSG00000026068
AA Change: L253Q

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163057
Meta Mutation Damage Score 0.7050 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 100% (59/59)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr2a T C 2: 48,782,150 (GRCm39) S228P probably damaging Het
Adamts2 C T 11: 50,664,038 (GRCm39) probably benign Het
Arhgap9 A G 10: 127,164,840 (GRCm39) E588G possibly damaging Het
Ash2l C G 8: 26,308,653 (GRCm39) G453A probably damaging Het
Catsperg2 A G 7: 29,404,527 (GRCm39) V638A probably benign Het
Ccrl2 T C 9: 110,885,432 (GRCm39) D22G probably benign Het
Cdc73 T C 1: 143,571,191 (GRCm39) I83V possibly damaging Het
Ceacam23 A G 7: 17,636,663 (GRCm39) T247A probably benign Het
Clec2e C A 6: 129,071,373 (GRCm39) E155* probably null Het
Cyp3a59 T A 5: 146,033,407 (GRCm39) M181K probably damaging Het
Dars2 A T 1: 160,890,878 (GRCm39) V111E probably benign Het
Diras2 T A 13: 52,662,059 (GRCm39) I83F probably damaging Het
Dlg2 T A 7: 91,361,008 (GRCm39) probably null Het
Dnai1 G A 4: 41,602,615 (GRCm39) R113H probably damaging Het
Eeig2 C T 3: 108,887,083 (GRCm39) R305Q probably damaging Het
Emilin2 T C 17: 71,580,449 (GRCm39) N759S probably benign Het
F11 A G 8: 45,701,675 (GRCm39) S353P probably damaging Het
Ggnbp1 T C 17: 27,248,587 (GRCm39) V52A probably benign Het
Gpr171 A G 3: 59,005,091 (GRCm39) V228A possibly damaging Het
Gsta3 T C 1: 21,330,313 (GRCm39) M55T probably benign Het
Hectd3 T A 4: 116,856,942 (GRCm39) N496K probably benign Het
Hp1bp3 T G 4: 137,966,919 (GRCm39) F367V probably damaging Het
Irs1 C T 1: 82,267,806 (GRCm39) G137S probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lair1 A C 7: 4,013,782 (GRCm39) L155R probably damaging Het
Larp7 A G 3: 127,340,460 (GRCm39) L126P probably damaging Het
Lhx1 G A 11: 84,412,654 (GRCm39) R89C probably damaging Het
Lypd4 C A 7: 24,564,884 (GRCm39) A85S probably benign Het
Mei1 A G 15: 81,987,405 (GRCm39) H399R possibly damaging Het
Myh10 G T 11: 68,703,878 (GRCm39) R1863L probably damaging Het
Myo9a G A 9: 59,775,463 (GRCm39) V1025I probably benign Het
Naa25 T A 5: 121,569,619 (GRCm39) D659E probably benign Het
Nol9 A G 4: 152,124,163 (GRCm39) S118G probably benign Het
Or4k2 C T 14: 50,424,137 (GRCm39) C179Y probably damaging Het
Or5p72 G T 7: 108,022,326 (GRCm39) D183Y probably damaging Het
Pde10a T A 17: 9,188,421 (GRCm39) I907N probably damaging Het
Pkhd1 T C 1: 20,655,879 (GRCm39) D218G probably benign Het
Poll A G 19: 45,542,016 (GRCm39) I430T probably damaging Het
Pomgnt1 T G 4: 116,010,740 (GRCm39) probably benign Het
Rab6b T C 9: 103,044,373 (GRCm39) probably null Het
Rad1 T C 15: 10,488,112 (GRCm39) S79P probably benign Het
Ranbp17 GCCTGGATACTGACC GCC 11: 33,169,203 (GRCm39) probably benign Het
Rcc1 T C 4: 132,065,125 (GRCm39) K133E possibly damaging Het
Ric8a T C 7: 140,441,874 (GRCm39) probably null Het
Rnf135 G T 11: 80,087,743 (GRCm39) A231S probably benign Het
Rps6ka4 A G 19: 6,816,645 (GRCm39) V146A possibly damaging Het
Sh3bp4 A G 1: 89,073,050 (GRCm39) I633V possibly damaging Het
Slc2a2 T A 3: 28,781,301 (GRCm39) N446K probably damaging Het
Slc44a1 T C 4: 53,491,445 (GRCm39) Y61H probably damaging Het
Slc7a1 G A 5: 148,272,343 (GRCm39) R445* probably null Het
Smc5 T C 19: 23,187,856 (GRCm39) M911V probably benign Het
Sntb1 C A 15: 55,506,214 (GRCm39) R453L probably benign Het
Spink4 T A 4: 40,929,136 (GRCm39) C54S probably damaging Het
Srrm2 CTCCTCTTCTTCCTCTTCTTCCTC CTCCTCTTCTTCCTC 17: 24,041,549 (GRCm39) probably benign Het
Trpm1 T G 7: 63,867,475 (GRCm39) probably benign Het
Tufm T C 7: 126,089,632 (GRCm39) M442T probably benign Het
Ubn1 A G 16: 4,891,242 (GRCm39) N539S possibly 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
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
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'- AAAAGGAGCAGCAGCATCTTC -3'
(R):5'- AACTCATCAGGGCCAAGTG -3'

Sequencing Primer
(F):5'- CCCTGTACTGGGGCATACAAAG -3'
(R):5'- TGAAGGTACACAGCGAATACTCTAGC -3'
Posted On 2015-01-23