Incidental Mutation 'R4834:Il1rap'
ID 373106
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 041977-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4834 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 26400454-26548867 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 26495685 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 97 (D97E)
Ref Sequence ENSEMBL: ENSMUSP00000133904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023156] [ENSMUST00000096129] [ENSMUST00000166294] [ENSMUST00000174171] [ENSMUST00000174202]
AlphaFold Q61730
Predicted Effect probably benign
Transcript: ENSMUST00000023156
AA Change: D97E

PolyPhen 2 Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000023156
Gene: ENSMUSG00000022514
AA Change: D97E

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 benign
Transcript: ENSMUST00000096129
AA Change: D97E

PolyPhen 2 Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000093843
Gene: ENSMUSG00000022514
AA Change: D97E

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 possibly damaging
Transcript: ENSMUST00000166294
AA Change: D97E

PolyPhen 2 Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000128100
Gene: ENSMUSG00000022514
AA Change: D97E

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: D97E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133904
Gene: ENSMUSG00000022514
AA Change: D97E

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 benign
Transcript: ENSMUST00000174202
AA Change: D97E

PolyPhen 2 Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000134202
Gene: ENSMUSG00000022514
AA Change: D97E

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: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik A C 9: 53,343,787 (GRCm39) D146A possibly damaging Het
Acsl5 C A 19: 55,268,991 (GRCm39) D217E probably benign Het
Acss3 A G 10: 106,920,666 (GRCm39) probably null Het
Adam24 G A 8: 41,132,738 (GRCm39) G69R probably damaging Het
Adgrg7 A T 16: 56,553,232 (GRCm39) W622R probably damaging Het
Ajm1 T C 2: 25,469,530 (GRCm39) E127G possibly damaging Het
Ankrd26 T C 6: 118,500,679 (GRCm39) M931V probably benign Het
Ano8 C T 8: 71,936,939 (GRCm39) V187M probably damaging Het
Ap3d1 A T 10: 80,555,560 (GRCm39) C348S probably damaging Het
Apob T C 12: 8,064,101 (GRCm39) V376A possibly damaging Het
Arhgap21 A T 2: 20,870,130 (GRCm39) D925E probably damaging Het
Bmp6 T A 13: 38,669,817 (GRCm39) V367E probably damaging Het
Bmp8b A T 4: 123,016,843 (GRCm39) Q348L probably damaging Het
Ccr1l1 T C 9: 123,777,742 (GRCm39) K235R probably damaging Het
Cd59a G A 2: 103,944,431 (GRCm39) C93Y probably damaging Het
Clstn3 C T 6: 124,408,912 (GRCm39) probably null Het
Col4a2 C A 8: 11,456,836 (GRCm39) Y236* probably null Het
Csn1s2a T C 5: 87,929,637 (GRCm39) F79L probably benign Het
Cyp4a10 A C 4: 115,383,005 (GRCm39) Y360S probably damaging Het
Cyp4a29 A T 4: 115,106,867 (GRCm39) I175F probably benign Het
Dck T A 5: 88,920,595 (GRCm39) I105N probably damaging Het
Dicer1 A G 12: 104,662,850 (GRCm39) L1577P probably benign Het
Disp2 G A 2: 118,622,985 (GRCm39) S1239N probably benign Het
Dop1b T C 16: 93,536,892 (GRCm39) M1T probably null Het
E130308A19Rik T A 4: 59,690,317 (GRCm39) C50* probably null Het
Elf2 A T 3: 51,184,642 (GRCm39) D14E probably damaging Het
Epm2aip1 C T 9: 111,102,262 (GRCm39) R412C probably benign Het
Foxm1 T C 6: 128,346,410 (GRCm39) F114L probably damaging Het
Glcci1 C T 6: 8,582,601 (GRCm39) R134* probably null Het
Gm57859 C A 11: 113,579,805 (GRCm39) T400K probably benign Het
Gspt1 T C 16: 11,040,581 (GRCm39) K576E probably damaging Het
H2-M10.3 T C 17: 36,678,286 (GRCm39) K180E probably benign Het
Hecw2 A T 1: 53,869,911 (GRCm39) V1439E probably damaging Het
Hr T C 14: 70,797,362 (GRCm39) S561P probably damaging Het
Hunk T C 16: 90,293,086 (GRCm39) V456A probably benign Het
Inpp5d T G 1: 87,625,245 (GRCm39) V474G possibly damaging Het
Itsn1 T A 16: 91,703,677 (GRCm39) L87* probably null Het
Izumo3 T C 4: 92,035,208 (GRCm39) D3G possibly damaging Het
Kifc2 T A 15: 76,545,511 (GRCm39) M1K probably null Het
Krt8 T A 15: 101,907,256 (GRCm39) I276F probably damaging Het
Ksr2 C A 5: 117,806,392 (GRCm39) Q402K probably benign Het
Lama2 A G 10: 26,882,745 (GRCm39) V2606A probably benign Het
Met A G 6: 17,491,412 (GRCm39) H58R probably damaging Het
Mier3 C T 13: 111,851,643 (GRCm39) Q542* probably null Het
Msh2 C A 17: 88,030,841 (GRCm39) A906E probably benign Het
Msl3l2 C T 10: 55,991,655 (GRCm39) R127C probably damaging Het
Naglu T C 11: 100,967,814 (GRCm39) L588P probably benign Het
Nf1 T C 11: 79,437,123 (GRCm39) L2013P probably damaging Het
Nid1 A G 13: 13,683,408 (GRCm39) Y1162C probably damaging Het
Nlrc5 G T 8: 95,232,113 (GRCm39) R1313L probably benign Het
Nrg1 A G 8: 32,407,747 (GRCm39) V162A probably benign Het
Nup188 T C 2: 30,229,596 (GRCm39) L1310P probably damaging Het
Ofcc1 G A 13: 40,168,864 (GRCm39) T841I probably damaging Het
Or14a259 G A 7: 86,012,952 (GRCm39) L198F probably benign Het
Or4f6 A G 2: 111,839,276 (GRCm39) L85P probably damaging Het
Or5ae1 T G 7: 84,565,491 (GRCm39) F168C probably damaging Het
Pbk T A 14: 66,052,733 (GRCm39) L192* probably null Het
Pcdhga4 T C 18: 37,818,490 (GRCm39) I13T probably benign Het
Peg10 A T 6: 4,754,294 (GRCm39) probably benign Het
Polq T A 16: 36,848,176 (GRCm39) V261D probably damaging Het
Ppp2r5b T A 19: 6,280,540 (GRCm39) T313S possibly damaging Het
Ptk2 A T 15: 73,087,945 (GRCm39) probably null Het
Ptpn7 T A 1: 135,065,618 (GRCm39) probably null Het
Rab11fip1 A G 8: 27,643,111 (GRCm39) S563P probably damaging Het
Scn1a A T 2: 66,158,866 (GRCm39) C351* probably null Het
Slc10a5 A T 3: 10,399,859 (GRCm39) V267D probably damaging Het
Slc37a2 T A 9: 37,146,404 (GRCm39) M368L probably damaging Het
Slc49a4 T A 16: 35,555,945 (GRCm39) T172S probably benign Het
Slc6a20b T A 9: 123,425,113 (GRCm39) T585S probably benign Het
Srcap T C 7: 127,156,782 (GRCm39) probably null Het
Tbx18 T C 9: 87,609,502 (GRCm39) M178V possibly damaging Het
Tmprss11b C A 5: 86,811,418 (GRCm39) C172F probably damaging Het
Traf5 T C 1: 191,751,198 (GRCm39) Q91R probably benign Het
Trappc8 A T 18: 20,958,122 (GRCm39) Y1248N probably damaging Het
Trpa1 A G 1: 14,966,747 (GRCm39) L539S possibly damaging Het
Tyrp1 T A 4: 80,764,833 (GRCm39) Y3* probably null Het
Ubr7 A T 12: 102,727,761 (GRCm39) K94N probably damaging Het
Ugt2a1 C A 5: 87,633,894 (GRCm39) probably null Het
Unc50 T A 1: 37,471,710 (GRCm39) I120K probably damaging Het
Usp28 T C 9: 48,912,836 (GRCm39) V29A probably damaging Het
Usp9y A G Y: 1,317,002 (GRCm39) I1849T probably benign Het
Vmn2r102 T A 17: 19,898,203 (GRCm39) V406E probably damaging Het
Vmn2r4 G A 3: 64,317,484 (GRCm39) R85W probably benign Het
Xirp2 A G 2: 67,346,750 (GRCm39) D2997G probably benign Het
Zc2hc1c A T 12: 85,336,982 (GRCm39) E213V probably damaging Het
Zfp420 C T 7: 29,573,759 (GRCm39) probably benign Het
Zfp641 C T 15: 98,191,585 (GRCm39) E34K probably damaging 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
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
R7863:Il1rap UTSW 16 26,495,461 (GRCm39) missense probably damaging 1.00
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'- GGGACTAGATACCATGCGAC -3'
(R):5'- TTCAGCTAGGTCATTGAGGC -3'

Sequencing Primer
(F):5'- CCATGCGACAAATCCAAGTGTTTG -3'
(R):5'- GTCATTGAGGCAAAGTATAACCC -3'
Posted On 2016-03-01