Incidental Mutation 'R1801:Il1rap'
ID 203176
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 039831-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1801 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 26400454-26548867 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 26517625 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 275 (D275V)
Ref Sequence ENSEMBL: ENSMUSP00000133904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023156] [ENSMUST00000096129] [ENSMUST00000166294] [ENSMUST00000174171] [ENSMUST00000174202]
AlphaFold Q61730
Predicted Effect probably damaging
Transcript: ENSMUST00000023156
AA Change: D275V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000023156
Gene: ENSMUSG00000022514
AA Change: D275V

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: D275V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000093843
Gene: ENSMUSG00000022514
AA Change: D275V

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: D275V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000128100
Gene: ENSMUSG00000022514
AA Change: D275V

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: D275V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133904
Gene: ENSMUSG00000022514
AA Change: D275V

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: D275V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134202
Gene: ENSMUSG00000022514
AA Change: D275V

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: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 91.5%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T C 10: 78,903,230 (GRCm39) E362G probably damaging Het
Abcc5 T C 16: 20,157,637 (GRCm39) M1307V probably benign Het
Adam34l A T 8: 44,078,954 (GRCm39) C423* probably null Het
Adamts9 A G 6: 92,840,357 (GRCm39) V1142A probably benign Het
Ano10 T C 9: 122,082,096 (GRCm39) N525S probably damaging Het
Bpifa2 T C 2: 153,853,424 (GRCm39) probably null Het
C7 C T 15: 5,041,503 (GRCm39) V468I possibly damaging Het
Carf A T 1: 60,180,664 (GRCm39) H362L possibly damaging Het
Ccdc171 A C 4: 83,465,132 (GRCm39) I37L probably benign Het
Ccdc182 T C 11: 88,185,016 (GRCm39) L32P possibly damaging Het
Celsr3 A T 9: 108,711,825 (GRCm39) D1678V possibly damaging Het
Col7a1 A T 9: 108,790,065 (GRCm39) Y920F unknown Het
Cpsf3 T C 12: 21,363,791 (GRCm39) V627A probably benign Het
D7Ertd443e A G 7: 133,871,941 (GRCm39) M640T probably damaging Het
Ddi2 T C 4: 141,411,283 (GRCm39) D543G probably damaging Het
Dnah9 T C 11: 65,846,123 (GRCm39) N2972D probably damaging Het
Dnajc18 T C 18: 35,813,857 (GRCm39) D304G probably damaging Het
Epg5 T C 18: 78,026,705 (GRCm39) V1232A possibly damaging Het
Ezr T C 17: 7,009,771 (GRCm39) T358A possibly damaging Het
Filip1 A G 9: 79,723,128 (GRCm39) S1164P probably damaging Het
Gmip T C 8: 70,267,127 (GRCm39) V341A probably benign Het
Gnb3 A C 6: 124,812,599 (GRCm39) F286V probably benign Het
Gpatch2 T A 1: 186,958,028 (GRCm39) S128T probably benign Het
Gpr87 T C 3: 59,086,813 (GRCm39) R231G possibly damaging Het
Hip1r G A 5: 124,136,871 (GRCm39) R613Q probably benign Het
Hsd3b7 T C 7: 127,402,206 (GRCm39) Y284H possibly damaging Het
Il4 G T 11: 53,509,365 (GRCm39) H23Q possibly damaging Het
Kit A G 5: 75,809,053 (GRCm39) Y749C probably damaging Het
Klb A G 5: 65,506,578 (GRCm39) K275R probably null Het
Klhl12 G T 1: 134,416,808 (GRCm39) R510L probably damaging Het
Lrrc8b A G 5: 105,628,689 (GRCm39) Y345C probably damaging Het
Med15 T C 16: 17,498,599 (GRCm39) T98A possibly damaging Het
Mmp1a T A 9: 7,475,391 (GRCm39) Y387N probably damaging Het
Myrf C A 19: 10,191,555 (GRCm39) V928L probably benign Het
Nr1d1 T C 11: 98,662,325 (GRCm39) K134E probably damaging Het
Nrxn3 A T 12: 90,250,356 (GRCm39) D305V probably damaging Het
Obscn A C 11: 58,889,147 (GRCm39) S7542A unknown Het
Or4a27 T A 2: 88,559,608 (GRCm39) I112F probably damaging Het
Pak4 G A 7: 28,264,615 (GRCm39) R96C probably damaging Het
Pde6b A T 5: 108,575,713 (GRCm39) D691V possibly damaging Het
Pdss2 A G 10: 43,221,601 (GRCm39) E171G probably benign Het
Pdzd2 C T 15: 12,387,740 (GRCm39) V873I possibly damaging Het
Plb1 A T 5: 32,450,587 (GRCm39) D376V probably damaging Het
Plekhg1 T C 10: 3,913,904 (GRCm39) Y1209H probably damaging Het
Prickle2 A G 6: 92,393,885 (GRCm39) C263R probably damaging Het
Psma2 A T 13: 14,798,190 (GRCm39) Y104F probably benign Het
Ptger4 T A 15: 5,272,281 (GRCm39) M113L possibly damaging Het
Rgs10 T G 7: 128,006,201 (GRCm39) D17A possibly damaging Het
Rpap3 A G 15: 97,592,090 (GRCm39) S189P possibly damaging Het
Rsbn1 T C 3: 103,822,188 (GRCm39) L102P probably damaging Het
Ryr2 T C 13: 11,610,167 (GRCm39) S655G probably benign Het
Samd4b A T 7: 28,106,756 (GRCm39) probably null Het
Sema4a C T 3: 88,344,056 (GRCm39) D732N probably benign Het
Sh3bp5l A G 11: 58,237,177 (GRCm39) D378G probably benign Het
Sh3gl3 C T 7: 81,933,327 (GRCm39) T230I possibly damaging Het
Slc28a2b C T 2: 122,352,133 (GRCm39) R324C possibly damaging Het
Slc5a1 A T 5: 33,304,297 (GRCm39) Q299L probably damaging Het
Ssc5d C A 7: 4,939,606 (GRCm39) H681N probably benign Het
Sugp2 T C 8: 70,689,360 (GRCm39) S10P possibly damaging Het
Supt5 A G 7: 28,016,639 (GRCm39) probably null Het
Syna A G 5: 134,588,943 (GRCm39) V2A probably benign Het
Tcp1 T A 17: 13,141,089 (GRCm39) Y299* probably null Het
Tenm3 C A 8: 48,729,291 (GRCm39) V1572L probably benign Het
Tent4b T G 8: 88,977,416 (GRCm39) V406G probably benign Het
Trp53rka A G 2: 165,333,533 (GRCm39) S119P probably damaging Het
Ubr4 T A 4: 139,179,874 (GRCm39) probably null Het
Uchl4 T A 9: 64,142,757 (GRCm39) D79E probably benign Het
Vmn2r17 C A 5: 109,576,344 (GRCm39) T405K probably damaging Het
Xpnpep1 A G 19: 52,998,564 (GRCm39) L228P probably damaging Het
Xrcc4 T G 13: 90,140,698 (GRCm39) E170D probably damaging Het
Zfp945 T C 17: 23,070,736 (GRCm39) T388A probably damaging Het
Zfp947 G A 17: 22,365,443 (GRCm39) A77V probably benign Het
Zkscan5 G A 5: 145,157,015 (GRCm39) G433R 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
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
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'- CCACCCTTGTAATTTCATGGACAC -3'
(R):5'- TTTAATGACCCTGCAGCCCC -3'

Sequencing Primer
(F):5'- TGTAATTTCATGGACACTTGCTC -3'
(R):5'- CAGCCCCTGAAGGTTGAAAAATCTTG -3'
Posted On 2014-06-23