Incidental Mutation 'R8201:Il18rap'
ID 635654
Institutional Source Beutler Lab
Gene Symbol Il18rap
Ensembl Gene ENSMUSG00000026068
Gene Name interleukin 18 receptor accessory protein
Synonyms AcPL accessory protein-like)
MMRRC Submission 067624-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8201 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 40554522-40590865 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 40578429 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Isoleucine at position 280 (R280I)
Ref Sequence ENSEMBL: ENSMUSP00000027237 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027237]
AlphaFold Q9Z2B1
Predicted Effect possibly damaging
Transcript: ENSMUST00000027237
AA Change: R280I

PolyPhen 2 Score 0.751 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000027237
Gene: ENSMUSG00000026068
AA Change: R280I

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
Meta Mutation Damage Score 0.1712 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T C 3: 124,195,046 (GRCm39) E543G probably benign Het
2210408I21Rik T A 13: 77,341,278 (GRCm39) N302K possibly damaging Het
Apbb2 T C 5: 66,466,458 (GRCm39) N609S probably benign Het
Atp10a G T 7: 58,469,424 (GRCm39) G1092* probably null Het
Ccdc150 A G 1: 54,368,646 (GRCm39) N618S probably benign Het
Cct4 T A 11: 22,949,115 (GRCm39) V287E probably damaging Het
Cyp2j7 A T 4: 96,083,564 (GRCm39) I462N probably damaging Het
Dnajc6 C T 4: 101,475,960 (GRCm39) A611V probably benign Het
Dusp10 C A 1: 183,769,202 (GRCm39) A56E possibly damaging Het
Entrep3 T C 3: 89,093,115 (GRCm39) V291A probably damaging Het
Fat3 A C 9: 15,908,773 (GRCm39) C2410G possibly damaging Het
Fcgrt T A 7: 44,744,634 (GRCm39) Q274L possibly damaging Het
Fdxacb1 G T 9: 50,681,455 (GRCm39) probably benign Het
Fubp1 T A 3: 151,927,823 (GRCm39) I424N probably damaging Het
Gm5114 T A 7: 39,060,373 (GRCm39) T159S probably damaging Het
Gm7168 T C 17: 14,170,042 (GRCm39) C470R probably benign Het
Hebp1 A G 6: 135,114,906 (GRCm39) V185A possibly damaging Het
Mamdc4 T C 2: 25,456,093 (GRCm39) N771S probably damaging Het
Ndufaf4 A G 4: 24,898,197 (GRCm39) N11D possibly damaging Het
Nkiras1 T C 14: 18,276,908 (GRCm38) probably benign Het
Noct T C 3: 51,155,444 (GRCm39) S135P probably benign Het
Or1e23 T A 11: 73,407,899 (GRCm39) N42I probably damaging Het
Or2t48 A T 11: 58,419,865 (GRCm39) *316R noncoding transcript Het
Or2w3b A C 11: 58,623,940 (GRCm39) F17C probably damaging Het
Or7e177 G T 9: 20,212,317 (GRCm39) G271C probably damaging Het
Or7e178 T C 9: 20,225,908 (GRCm39) M103V probably benign Het
Pcdhac1 A T 18: 37,223,892 (GRCm39) H235L probably benign Het
Pcdhb22 G T 18: 37,651,518 (GRCm39) probably benign Het
Pdlim1 A T 19: 40,218,958 (GRCm39) D224E probably benign Het
Plpp3 G T 4: 105,076,555 (GRCm39) G223W probably damaging Het
Rcan3 A G 4: 135,147,684 (GRCm39) F81S probably damaging Het
Sel1l2 A C 2: 140,108,312 (GRCm39) Y191D probably damaging Het
Supt16 A G 14: 52,408,447 (GRCm39) F833L probably damaging Het
Tchh T C 3: 93,350,781 (GRCm39) F74L probably damaging Het
Tgfbr3 T C 5: 107,278,431 (GRCm39) D725G probably benign Het
Tmem14c C T 13: 41,171,186 (GRCm39) P10S probably benign Het
Ubb G A 11: 62,443,053 (GRCm39) A28T probably benign Het
Vars2 A T 17: 35,969,202 (GRCm39) V833E probably benign Het
Zfyve9 T C 4: 108,507,474 (GRCm39) D528G 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
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
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'- TGGCTATTCCTGGTACCCAC -3'
(R):5'- TGAGAAATGGAGTGCCTCTG -3'

Sequencing Primer
(F):5'- TGGTACCCACTTGACGGACAC -3'
(R):5'- TAGACAGACAGACAGATAGTGTTTAC -3'
Posted On 2020-07-13