Incidental Mutation 'R7863:Il1rap'
ID 607682
Institutional Source Beutler Lab
Gene Symbol Il1rap
Ensembl Gene ENSMUSG00000022514
Gene Name interleukin 1 receptor accessory protein
Synonyms IL-1RAcP, 6430709H04Rik, IL-1R AcP
MMRRC Submission 045916-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7863 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 26400454-26548867 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 26495461 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 23 (R23C)
Ref Sequence ENSEMBL: ENSMUSP00000093843 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023156] [ENSMUST00000096129] [ENSMUST00000166294] [ENSMUST00000174171] [ENSMUST00000174202]
AlphaFold Q61730
Predicted Effect probably damaging
Transcript: ENSMUST00000023156
AA Change: R23C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023156
Gene: ENSMUSG00000022514
AA Change: R23C

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IG 32 132 1.21e-2 SMART
IG 145 232 4.04e0 SMART
IG 251 350 1.46e-5 SMART
low complexity region 368 381 N/A INTRINSIC
TIR 404 549 5.29e-36 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000096129
AA Change: R23C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093843
Gene: ENSMUSG00000022514
AA Change: R23C

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IG 32 132 1.21e-2 SMART
IG 145 232 4.04e0 SMART
IG 251 350 1.46e-5 SMART
low complexity region 368 381 N/A INTRINSIC
TIR 404 547 1.38e-25 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000166294
AA Change: R23C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128100
Gene: ENSMUSG00000022514
AA Change: R23C

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IG 32 132 1.21e-2 SMART
IG 145 232 4.04e0 SMART
IG 251 350 1.46e-5 SMART
low complexity region 368 381 N/A INTRINSIC
TIR 404 547 1.38e-25 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000174171
AA Change: R23C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133904
Gene: ENSMUSG00000022514
AA Change: R23C

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IG 32 132 1.21e-2 SMART
IG 145 232 4.04e0 SMART
Blast:IG 251 312 1e-28 BLAST
low complexity region 316 332 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000174202
AA Change: R23C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134202
Gene: ENSMUSG00000022514
AA Change: R23C

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IG 32 132 1.21e-2 SMART
IG 145 232 4.04e0 SMART
IG 251 350 1.46e-5 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Interleukin 1 induces synthesis of acute phase and proinflammatory proteins during infection, tissue damage, or stress, by forming a complex at the cell membrane with an interleukin 1 receptor and an accessory protein. This gene encodes the interleukin 1 receptor accessory protein. The protein is a necessary part of the interleukin 1 receptor complex which initiates signalling events that result in the activation of interleukin 1-responsive genes. Alternative splicing of this gene results in two transcript variants encoding two different isoforms, one membrane-bound and one soluble. The ratio of soluble to membrane-bound forms increases during acute-phase induction or stress. [provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and grossly normal but show no biological response to IL-1. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 A G 11: 48,838,101 (GRCm39) S829P probably benign Het
Abca1 A T 4: 53,107,179 (GRCm39) F183I probably benign Het
Abca12 A T 1: 71,332,656 (GRCm39) M1235K probably damaging Het
Abca7 A G 10: 79,844,655 (GRCm39) D1488G probably damaging Het
Adgrl3 A G 5: 81,660,596 (GRCm39) Y387C probably damaging Het
Adnp T C 2: 168,031,270 (GRCm39) K14E possibly damaging Het
Ago3 T C 4: 126,243,990 (GRCm39) R721G possibly damaging Het
Aldh3b3 T A 19: 4,015,322 (GRCm39) Y196* probably null Het
Alox12b T C 11: 69,057,753 (GRCm39) W506R probably damaging Het
Arid4b A G 13: 14,338,734 (GRCm39) I402V probably benign Het
Cep55 C T 19: 38,046,247 (GRCm39) probably benign Het
Chl1 A G 6: 103,683,475 (GRCm39) N767S possibly damaging Het
Cldn6 A G 17: 23,900,096 (GRCm39) N20S probably benign Het
Col23a1 A T 11: 51,463,597 (GRCm39) I420F probably damaging Het
Cxcr6 G A 9: 123,639,914 (GRCm39) R312Q probably damaging Het
Cyp4a10 T C 4: 115,375,622 (GRCm39) V35A probably benign Het
Def6 A G 17: 28,446,841 (GRCm39) N548D possibly damaging Het
Dock6 A G 9: 21,757,954 (GRCm39) V50A possibly damaging Het
Epha8 T A 4: 136,660,966 (GRCm39) I639F probably damaging Het
Ephx2 T A 14: 66,344,692 (GRCm39) R211* probably null Het
Espn C T 4: 152,236,616 (GRCm39) V17M probably damaging Het
Ezr A G 17: 7,008,863 (GRCm39) L403P probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Golm1 T C 13: 59,797,383 (GRCm39) Y154C probably damaging Het
Gpam A G 19: 55,059,388 (GRCm39) Y820H probably damaging Het
Gpr12 T C 5: 146,520,370 (GRCm39) D184G possibly damaging Het
Gpr87 C T 3: 59,087,317 (GRCm39) A63T probably damaging Het
Hmx2 G T 7: 131,156,082 (GRCm39) G16V probably benign Het
Hspg2 T C 4: 137,292,135 (GRCm39) V4009A probably benign Het
Iglc3 T C 16: 18,884,248 (GRCm39) D61G not run Het
Ikzf2 G T 1: 69,609,796 (GRCm39) Q144K possibly damaging Het
Kctd9 T A 14: 67,967,166 (GRCm39) D161E possibly damaging Het
Klhl8 T C 5: 104,019,968 (GRCm39) N351S probably benign Het
Krt28 G A 11: 99,255,999 (GRCm39) T420I possibly damaging Het
Marchf7 T A 2: 60,071,366 (GRCm39) H623Q probably benign Het
Max A G 12: 76,986,848 (GRCm39) I63T probably damaging Het
Mrpl28 T A 17: 26,343,615 (GRCm39) V125E possibly damaging Het
Mtmr10 T A 7: 63,969,205 (GRCm39) D322E probably benign Het
Mtrex T C 13: 113,045,435 (GRCm39) T366A probably benign Het
Nlrp4f A T 13: 65,342,059 (GRCm39) Y529N possibly damaging Het
Nlrx1 A G 9: 44,176,509 (GRCm39) I31T probably benign Het
Oaz2 G A 9: 65,596,449 (GRCm39) R171Q possibly damaging Het
Or4c121 T G 2: 89,024,295 (GRCm39) I28L probably benign Het
Or5a1 T G 19: 12,097,974 (GRCm39) D34A possibly damaging Het
Or5t16 T G 2: 86,819,424 (GRCm39) Y32S probably damaging Het
Pcdhgc4 T A 18: 37,951,027 (GRCm39) Y814* probably null Het
Pcm1 T A 8: 41,714,163 (GRCm39) I243K probably damaging Het
Pdcd11 A T 19: 47,085,403 (GRCm39) N171I probably damaging Het
Phf20l1 T A 15: 66,487,084 (GRCm39) V400E possibly damaging Het
Pira13 C T 7: 3,827,801 (GRCm39) probably null Het
Psg28 T A 7: 18,162,042 (GRCm39) T154S possibly damaging Het
Ptgs2 T A 1: 149,977,090 (GRCm39) M99K probably damaging Het
Ptprh T A 7: 4,606,097 (GRCm39) M1L probably benign Het
Rbp4 T C 19: 38,112,546 (GRCm39) T140A possibly damaging Het
Rhbdd3 G A 11: 5,053,236 (GRCm39) R12Q probably benign Het
Saal1 T C 7: 46,342,327 (GRCm39) N372S probably benign Het
Satb1 T C 17: 52,112,350 (GRCm39) E88G possibly damaging Het
Shfl G A 9: 20,782,672 (GRCm39) A79T possibly damaging Het
Slc49a3 A T 5: 108,593,400 (GRCm39) L146Q probably damaging Het
Slc6a9 G T 4: 117,721,207 (GRCm39) C319F probably damaging Het
Smc6 T G 12: 11,339,130 (GRCm39) V322G probably benign Het
Snrnp200 T A 2: 127,073,609 (GRCm39) F1336I probably damaging Het
Spg7 T A 8: 123,815,788 (GRCm39) probably null Het
Stab2 G A 10: 86,808,745 (GRCm39) T188I probably benign Het
Tbata A G 10: 61,011,521 (GRCm39) E19G probably benign Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Ticrr T C 7: 79,331,760 (GRCm39) V757A possibly damaging Het
Tle1 T C 4: 72,059,529 (GRCm39) S261G probably null Het
Tlr3 T A 8: 45,850,774 (GRCm39) I708L probably benign Het
Tph2 A C 10: 114,915,906 (GRCm39) S422R probably damaging Het
Trim26 A G 17: 37,161,664 (GRCm39) T28A probably damaging Het
Trmt10c A G 16: 55,855,554 (GRCm39) L27S probably benign Het
Tubb6 T C 18: 67,534,790 (GRCm39) S230P probably damaging Het
Usf1 C T 1: 171,245,385 (GRCm39) Q266* probably null Het
Vegfa A G 17: 46,336,461 (GRCm39) F220L probably damaging Het
Vmn2r105 C T 17: 20,428,937 (GRCm39) C713Y probably benign Het
Vmn2r17 T A 5: 109,568,035 (GRCm39) S53T probably benign Het
Xirp2 A T 2: 67,343,074 (GRCm39) T1772S probably benign Het
Zfp462 T C 4: 55,007,747 (GRCm39) I62T probably benign Het
Zfp516 T A 18: 83,019,453 (GRCm39) I1157N probably benign Het
Zfp819 C A 7: 43,267,316 (GRCm39) Q600K probably benign Het
Other mutations in Il1rap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:Il1rap APN 16 26,541,151 (GRCm39) missense possibly damaging 0.77
IGL00976:Il1rap APN 16 26,517,589 (GRCm39) missense probably benign 0.09
IGL01075:Il1rap APN 16 26,498,987 (GRCm39) missense possibly damaging 0.94
IGL01665:Il1rap APN 16 26,541,463 (GRCm39) missense probably damaging 1.00
IGL01962:Il1rap APN 16 26,529,318 (GRCm39) nonsense probably null
IGL02101:Il1rap APN 16 26,442,932 (GRCm39) missense possibly damaging 0.61
IGL02411:Il1rap APN 16 26,529,366 (GRCm39) missense probably damaging 1.00
IGL03132:Il1rap APN 16 26,498,869 (GRCm39) missense probably damaging 1.00
bacchus UTSW 16 26,529,382 (GRCm39) critical splice donor site probably null
I1329:Il1rap UTSW 16 26,511,600 (GRCm39) missense probably benign 0.07
LCD18:Il1rap UTSW 16 26,450,343 (GRCm39) intron probably benign
PIT1430001:Il1rap UTSW 16 26,529,343 (GRCm39) missense possibly damaging 0.53
R0302:Il1rap UTSW 16 26,511,544 (GRCm39) missense probably benign 0.02
R0454:Il1rap UTSW 16 26,517,625 (GRCm39) missense probably damaging 1.00
R0481:Il1rap UTSW 16 26,511,585 (GRCm39) missense probably damaging 1.00
R0612:Il1rap UTSW 16 26,519,855 (GRCm39) missense possibly damaging 0.48
R0765:Il1rap UTSW 16 26,529,382 (GRCm39) critical splice donor site probably null
R1552:Il1rap UTSW 16 26,541,184 (GRCm39) missense possibly damaging 0.79
R1801:Il1rap UTSW 16 26,517,625 (GRCm39) missense probably damaging 1.00
R1867:Il1rap UTSW 16 26,541,676 (GRCm39) missense probably damaging 1.00
R1942:Il1rap UTSW 16 26,541,205 (GRCm39) missense probably damaging 1.00
R1996:Il1rap UTSW 16 26,541,243 (GRCm39) missense probably benign 0.06
R2118:Il1rap UTSW 16 26,529,315 (GRCm39) missense probably damaging 1.00
R2122:Il1rap UTSW 16 26,529,315 (GRCm39) missense probably damaging 1.00
R2124:Il1rap UTSW 16 26,529,315 (GRCm39) missense probably damaging 1.00
R3104:Il1rap UTSW 16 26,541,502 (GRCm39) missense probably benign 0.01
R3105:Il1rap UTSW 16 26,541,502 (GRCm39) missense probably benign 0.01
R3106:Il1rap UTSW 16 26,541,502 (GRCm39) missense probably benign 0.01
R3891:Il1rap UTSW 16 26,495,606 (GRCm39) missense probably damaging 1.00
R4133:Il1rap UTSW 16 26,541,636 (GRCm39) missense probably benign 0.34
R4409:Il1rap UTSW 16 26,531,015 (GRCm39) splice site probably null
R4610:Il1rap UTSW 16 26,533,526 (GRCm39) missense probably benign 0.11
R4755:Il1rap UTSW 16 26,541,532 (GRCm39) missense probably benign 0.20
R4776:Il1rap UTSW 16 26,511,549 (GRCm39) missense possibly damaging 0.57
R4793:Il1rap UTSW 16 26,513,984 (GRCm39) missense probably benign 0.09
R4811:Il1rap UTSW 16 26,519,988 (GRCm39) critical splice donor site probably null
R4834:Il1rap UTSW 16 26,495,685 (GRCm39) missense probably damaging 1.00
R5119:Il1rap UTSW 16 26,442,949 (GRCm39) missense probably benign 0.01
R5744:Il1rap UTSW 16 26,498,974 (GRCm39) missense probably benign 0.01
R6108:Il1rap UTSW 16 26,541,457 (GRCm39) missense probably damaging 1.00
R6149:Il1rap UTSW 16 26,530,969 (GRCm39) missense probably damaging 1.00
R6233:Il1rap UTSW 16 26,529,256 (GRCm39) missense probably benign 0.24
R6246:Il1rap UTSW 16 26,533,631 (GRCm39) missense probably benign
R6249:Il1rap UTSW 16 26,511,598 (GRCm39) missense possibly damaging 0.88
R6254:Il1rap UTSW 16 26,514,020 (GRCm39) missense probably benign
R6748:Il1rap UTSW 16 26,541,106 (GRCm39) missense probably benign 0.02
R7151:Il1rap UTSW 16 26,530,878 (GRCm39) missense probably damaging 1.00
R7794:Il1rap UTSW 16 26,541,658 (GRCm39) missense probably benign
R7818:Il1rap UTSW 16 26,517,597 (GRCm39) missense probably damaging 1.00
R7819:Il1rap UTSW 16 26,541,151 (GRCm39) missense possibly damaging 0.77
R8240:Il1rap UTSW 16 26,520,001 (GRCm39) missense probably benign
R8559:Il1rap UTSW 16 26,530,884 (GRCm39) missense probably benign 0.29
R8934:Il1rap UTSW 16 26,495,734 (GRCm39) missense probably damaging 1.00
R8986:Il1rap UTSW 16 26,533,696 (GRCm39) missense probably damaging 1.00
R9261:Il1rap UTSW 16 26,541,724 (GRCm39) missense possibly damaging 0.83
R9286:Il1rap UTSW 16 26,517,604 (GRCm39) missense possibly damaging 0.89
R9326:Il1rap UTSW 16 26,495,641 (GRCm39) missense probably damaging 1.00
R9408:Il1rap UTSW 16 26,533,675 (GRCm39) missense possibly damaging 0.91
R9493:Il1rap UTSW 16 26,541,702 (GRCm39) missense probably benign 0.00
R9723:Il1rap UTSW 16 26,442,907 (GRCm39) start codon destroyed probably null 0.97
X0027:Il1rap UTSW 16 26,519,897 (GRCm39) missense probably benign 0.20
X0028:Il1rap UTSW 16 26,495,714 (GRCm39) missense probably damaging 1.00
Z1176:Il1rap UTSW 16 26,541,149 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCCTGAGAGATTTCACAGTACC -3'
(R):5'- AGTTAATGGGCTCCTCCAGGTC -3'

Sequencing Primer
(F):5'- TGAGAGATTTCACAGTACCAAAAC -3'
(R):5'- TCCAGGTCCCGGTCTTG -3'
Posted On 2019-12-20