Incidental Mutation 'R9723:Il1rap'
ID 730954
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9723 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 26400454-26548867 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to A at 26442907 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000093843 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023156] [ENSMUST00000096129] [ENSMUST00000166294] [ENSMUST00000174171] [ENSMUST00000174202]
AlphaFold Q61730
Predicted Effect probably null
Transcript: ENSMUST00000023156
AA Change: M1K

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000023156
Gene: ENSMUSG00000022514
AA Change: M1K

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 null
Transcript: ENSMUST00000096129
AA Change: M1K

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000093843
Gene: ENSMUSG00000022514
AA Change: M1K

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 null
Transcript: ENSMUST00000166294
AA Change: M1K

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000128100
Gene: ENSMUSG00000022514
AA Change: M1K

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 null
Transcript: ENSMUST00000174171
AA Change: M1K

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000133904
Gene: ENSMUSG00000022514
AA Change: M1K

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 null
Transcript: ENSMUST00000174202
AA Change: M1K

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000134202
Gene: ENSMUSG00000022514
AA Change: M1K

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: 99.7%
  • 20x: 99.1%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb6 G A 1: 75,156,366 (GRCm39) R133W probably benign Het
Abcc3 T A 11: 94,250,725 (GRCm39) T877S probably benign Het
Alb A T 5: 90,611,962 (GRCm39) K130N probably damaging Het
Alkbh8 G A 9: 3,385,283 (GRCm39) S560N probably benign Het
Angel2 T G 1: 190,671,342 (GRCm39) L234R probably damaging Het
Catip C T 1: 74,403,745 (GRCm39) T154I probably benign Het
Ccdc163 C T 4: 116,569,595 (GRCm39) Q102* probably null Het
Cep250 A G 2: 155,823,337 (GRCm39) E997G probably benign Het
Ces2f T C 8: 105,677,463 (GRCm39) I183T possibly damaging Het
Commd8 A G 5: 72,318,309 (GRCm39) V158A possibly damaging Het
Cyp2b9 C T 7: 25,909,596 (GRCm39) Q455* probably null Het
D5Ertd579e G T 5: 36,772,284 (GRCm39) H704N probably damaging Het
Dnah1 T C 14: 30,987,946 (GRCm39) T3491A probably damaging Het
Dnai1 T G 4: 41,603,302 (GRCm39) F195C possibly damaging Het
Dock7 A G 4: 98,908,270 (GRCm39) V620A Het
Dock7 A T 4: 98,960,660 (GRCm39) D289E Het
Dpys T A 15: 39,691,509 (GRCm39) E271V probably damaging Het
Elovl3 T C 19: 46,123,155 (GRCm39) Y244H probably damaging Het
Enam G A 5: 88,652,241 (GRCm39) G1250E probably damaging Het
Espl1 C T 15: 102,229,170 (GRCm39) T1774M probably benign Het
Fasl T C 1: 161,615,535 (GRCm39) K107R probably benign Het
Fbn1 A T 2: 125,202,119 (GRCm39) C1251* probably null Het
Fn1 G T 1: 71,663,369 (GRCm39) Q1040K possibly damaging Het
Frem3 C T 8: 81,341,352 (GRCm39) S1215L probably benign Het
G3bp2 A T 5: 92,214,388 (GRCm39) D135E possibly damaging Het
Gabpb1 C T 2: 126,488,648 (GRCm39) V240I probably benign Het
Galnt12 C G 4: 47,119,541 (GRCm39) Y452* probably null Het
Ggta1 G T 2: 35,303,418 (GRCm39) D91E probably benign Het
Gm12258 C T 11: 58,750,448 (GRCm39) P541L unknown Het
Gm12789 T A 4: 101,846,083 (GRCm39) W115R possibly damaging Het
Gm8126 T C 14: 43,119,141 (GRCm39) probably null Het
Gpr179 A T 11: 97,225,546 (GRCm39) L2203H possibly damaging Het
H1f6 A G 13: 23,879,906 (GRCm39) K20E probably damaging Het
Hapln3 A T 7: 78,771,736 (GRCm39) V51E possibly damaging Het
Ifit1 A G 19: 34,626,257 (GRCm39) *464W probably null Het
Il1r1 A C 1: 40,332,721 (GRCm39) I137L probably benign Het
Lgi2 A G 5: 52,695,843 (GRCm39) L372P probably damaging Het
Lrrc46 A G 11: 96,925,773 (GRCm39) S230P possibly damaging Het
Ltbr G A 6: 125,284,348 (GRCm39) R365W probably damaging Het
Mapk8ip3 C A 17: 25,132,585 (GRCm39) W339L possibly damaging Het
Msln A T 17: 25,969,008 (GRCm39) M459K possibly damaging Het
Msr1 A G 8: 40,042,357 (GRCm39) V406A possibly damaging Het
Ndst2 G T 14: 20,775,512 (GRCm39) D659E probably benign Het
Npat T A 9: 53,473,746 (GRCm39) S513T probably benign Het
Npat T G 9: 53,481,861 (GRCm39) L1190V probably damaging Het
Npc1 A G 18: 12,343,649 (GRCm39) I448T probably benign Het
Omd T C 13: 49,743,838 (GRCm39) F296S probably damaging Het
Oprm1 A G 10: 6,788,514 (GRCm39) N423S possibly damaging Het
Oxtr G A 6: 112,466,304 (GRCm39) T152I probably benign Het
Pak2 A T 16: 31,852,650 (GRCm39) V297E probably damaging Het
Pcnx4 T C 12: 72,603,039 (GRCm39) Y434H probably damaging Het
Pet100 G A 8: 3,672,374 (GRCm39) M20I probably damaging Het
Pfpl G C 19: 12,406,297 (GRCm39) E183Q probably damaging Het
Plekhn1 A G 4: 156,306,875 (GRCm39) S505P probably benign Het
Plin5 G A 17: 56,423,290 (GRCm39) A90V probably damaging Het
Poc5 A G 13: 96,551,026 (GRCm39) T526A probably benign Het
Potefam1 T C 2: 111,058,700 (GRCm39) H84R probably damaging Het
Pramel7 C T 2: 87,320,019 (GRCm39) V425I possibly damaging Het
Rad51d A T 11: 82,781,162 (GRCm39) probably null Het
Rbp3 T C 14: 33,677,474 (GRCm39) M474T possibly damaging Het
Rcan3 A G 4: 135,152,680 (GRCm39) S14P probably benign Het
Rps6ka4 A T 19: 6,816,663 (GRCm39) V140E probably damaging Het
Rsbn1l G A 5: 21,101,464 (GRCm39) S692L possibly damaging Het
Sgk1 A T 10: 21,872,239 (GRCm39) I272F probably damaging Het
Skor1 A G 9: 63,053,714 (GRCm39) V85A probably damaging Het
Slc12a1 A T 2: 125,059,827 (GRCm39) D909V probably damaging Het
Slc25a18 C A 6: 120,770,489 (GRCm39) A283E probably benign Het
Slc41a1 T C 1: 131,772,103 (GRCm39) L411P possibly damaging Het
Spata13 T C 14: 60,928,498 (GRCm39) S19P probably damaging Het
Stab1 T A 14: 30,885,848 (GRCm39) H42L probably benign Het
Stag3 T A 5: 138,298,103 (GRCm39) D698E probably benign Het
Syngap1 G A 17: 27,189,510 (GRCm39) R1305H possibly damaging Het
Tek T G 4: 94,692,539 (GRCm39) W216G possibly damaging Het
Trappc9 A G 15: 72,461,963 (GRCm39) Y1101H possibly damaging Het
Ttn A G 2: 76,601,929 (GRCm39) Y10251H probably damaging Het
Uhrf1 A G 17: 56,625,061 (GRCm39) K535E probably damaging Het
Usp14 G T 18: 10,009,993 (GRCm39) Q185K probably damaging Het
Usp32 A T 11: 84,935,536 (GRCm39) Y413* probably null Het
Uvssa G A 5: 33,547,382 (GRCm39) probably null Het
Vmn1r177 A T 7: 23,565,774 (GRCm39) L34Q probably damaging Het
Wdr41 T C 13: 95,151,671 (GRCm39) L277P probably damaging Het
Zc2hc1b T A 10: 13,044,497 (GRCm39) L55F probably damaging Het
Zfp345 A C 2: 150,314,189 (GRCm39) Y449* probably null 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
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
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'- ACTGCAGGTCAGAAAATCCAG -3'
(R):5'- CAGACACTTGATTCTATGCAACTAC -3'

Sequencing Primer
(F):5'- GCCAGACCACTTTTTAGTCAAGGG -3'
(R):5'- CAGAATTCTGTGGAACAAAACCAAC -3'
Posted On 2022-10-06