Incidental Mutation 'R0612:Il1rap'
ID 54844
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 038801-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0612 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 26400454-26548867 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 26519855 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 307 (T307M)
Ref Sequence ENSEMBL: ENSMUSP00000128100 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023156] [ENSMUST00000096129] [ENSMUST00000166294] [ENSMUST00000174171] [ENSMUST00000174202]
AlphaFold Q61730
Predicted Effect possibly damaging
Transcript: ENSMUST00000023156
AA Change: T307M

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000023156
Gene: ENSMUSG00000022514
AA Change: T307M

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 possibly damaging
Transcript: ENSMUST00000096129
AA Change: T307M

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000093843
Gene: ENSMUSG00000022514
AA Change: T307M

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: T307M

PolyPhen 2 Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000128100
Gene: ENSMUSG00000022514
AA Change: T307M

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 benign
Transcript: ENSMUST00000174171
SMART Domains Protein: ENSMUSP00000133904
Gene: ENSMUSG00000022514

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 possibly damaging
Transcript: ENSMUST00000174202
AA Change: T307M

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000134202
Gene: ENSMUSG00000022514
AA Change: T307M

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 99.0%
  • 10x: 97.2%
  • 20x: 93.5%
Validation Efficiency 98% (92/94)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T C 7: 119,936,478 (GRCm39) L181P probably damaging Het
Aldh3a1 A T 11: 61,105,445 (GRCm39) I184F probably damaging Het
Arl6ip4 A G 5: 124,254,596 (GRCm39) S30G probably benign Het
Atp9b T C 18: 80,797,171 (GRCm39) E891G possibly damaging Het
Brsk1 T C 7: 4,710,425 (GRCm39) L478P possibly damaging Het
Btaf1 G A 19: 36,946,537 (GRCm39) V448I probably damaging Het
Cab39 T C 1: 85,746,236 (GRCm39) probably null Het
Cacna2d4 G T 6: 119,258,679 (GRCm39) probably benign Het
Capzb C T 4: 139,018,340 (GRCm39) S253L probably benign Het
Ccdc174 A G 6: 91,867,873 (GRCm39) probably benign Het
Ccdc180 C T 4: 45,927,969 (GRCm39) A1168V probably damaging Het
Cdh19 T C 1: 110,820,900 (GRCm39) probably benign Het
Cdh8 T C 8: 100,127,546 (GRCm39) T22A probably benign Het
Cdk10 T C 8: 123,957,419 (GRCm39) V181A probably benign Het
Ceacam15 A C 7: 16,407,445 (GRCm39) L24* probably null Het
Cftr A C 6: 18,198,125 (GRCm39) T20P probably benign Het
Cip2a C T 16: 48,819,402 (GRCm39) A112V probably benign Het
Clstn3 T C 6: 124,426,459 (GRCm39) T576A probably damaging Het
Col1a2 G A 6: 4,516,003 (GRCm39) V165I unknown Het
Copg2 A T 6: 30,838,404 (GRCm39) probably null Het
Cps1 A G 1: 67,178,929 (GRCm39) H47R probably benign Het
Cytip T C 2: 58,024,202 (GRCm39) D206G possibly damaging Het
Dcaf8l G A X: 88,448,972 (GRCm39) R386* probably null Het
Dnmt1 C T 9: 20,829,489 (GRCm39) E824K probably damaging Het
Dock7 A C 4: 98,877,470 (GRCm39) V442G probably benign Het
Dsc1 T G 18: 20,247,573 (GRCm39) K14T probably damaging Het
Dync1h1 C T 12: 110,582,930 (GRCm39) P371L probably damaging Het
Enah A G 1: 181,734,013 (GRCm39) probably benign Het
Entrep2 C T 7: 64,411,549 (GRCm39) V395M probably benign Het
Fastkd1 T C 2: 69,542,727 (GRCm39) T27A probably benign Het
Fcho1 A G 8: 72,168,168 (GRCm39) L248P probably damaging Het
Fezf1 A T 6: 23,247,028 (GRCm39) V268D probably damaging Het
Fgd2 T A 17: 29,597,321 (GRCm39) V547E probably benign Het
Flnb T A 14: 7,887,682 (GRCm38) probably benign Het
Gabrg3 A G 7: 56,379,454 (GRCm39) M316T probably damaging Het
Gigyf2 T C 1: 87,376,802 (GRCm39) F1265L probably damaging Het
Git2 A G 5: 114,890,342 (GRCm39) S271P probably damaging Het
Gorab T C 1: 163,224,738 (GRCm39) D21G possibly damaging Het
Gpr179 T A 11: 97,229,264 (GRCm39) T964S possibly damaging Het
Hdac5 A G 11: 102,087,078 (GRCm39) V1042A possibly damaging Het
Hoxa2 T A 6: 52,140,540 (GRCm39) T149S probably damaging Het
Igsf8 G T 1: 172,146,974 (GRCm39) *108L probably null Het
Itih2 T C 2: 10,122,205 (GRCm39) D232G probably benign Het
Jak3 A G 8: 72,136,021 (GRCm39) Y607C probably damaging Het
Kcnh1 C T 1: 191,959,361 (GRCm39) P305L probably damaging Het
Lrrc7 T A 3: 157,869,990 (GRCm39) I644F probably damaging Het
Lrrn2 T C 1: 132,865,466 (GRCm39) L177P probably damaging Het
Lypd8l A G 11: 58,502,799 (GRCm39) probably null Het
Map4k3 C A 17: 80,909,622 (GRCm39) K712N probably damaging Het
Med11 A G 11: 70,342,910 (GRCm39) T36A probably benign Het
Mmp14 A G 14: 54,677,891 (GRCm39) D504G probably damaging Het
Mob1a A G 6: 83,311,140 (GRCm39) T120A probably benign Het
Mr1 T A 1: 155,013,436 (GRCm39) D47V probably damaging Het
Nacad G T 11: 6,551,382 (GRCm39) A603E possibly damaging Het
Nwd1 T A 8: 73,394,308 (GRCm39) W524R probably damaging Het
Or11g26 A T 14: 50,752,939 (GRCm39) T93S probably benign Het
Or13a19 T A 7: 139,903,101 (GRCm39) M163K possibly damaging Het
Or4e1 T C 14: 52,701,008 (GRCm39) T153A probably benign Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Pde6c T A 19: 38,121,694 (GRCm39) C101S probably benign Het
Pdia3 G A 2: 121,262,858 (GRCm39) G275S probably damaging Het
Pdlim4 G A 11: 53,959,713 (GRCm39) R16C probably damaging Het
Pfkp A G 13: 6,655,670 (GRCm39) probably null Het
Plcg2 T A 8: 118,300,104 (GRCm39) S225T probably benign Het
Pramel1 T C 4: 143,124,101 (GRCm39) S259P probably damaging Het
Pramel27 G T 4: 143,578,658 (GRCm39) probably benign Het
Rc3h2 T C 2: 37,301,227 (GRCm39) N92D possibly damaging Het
Ric8b C A 10: 84,837,745 (GRCm39) N517K probably damaging Het
Rnf34 G A 5: 123,002,237 (GRCm39) R65H probably damaging Het
Rraga C T 4: 86,494,564 (GRCm39) R137C probably damaging Het
Scube2 C T 7: 109,403,971 (GRCm39) probably benign Het
Slc28a2b T C 2: 122,352,179 (GRCm39) M339T probably damaging Het
Spata31d1d T C 13: 59,875,787 (GRCm39) I583V probably benign Het
Suox T C 10: 128,506,525 (GRCm39) E501G probably benign Het
Susd1 A G 4: 59,390,561 (GRCm39) probably benign Het
Tac1 T C 6: 7,555,653 (GRCm39) S14P probably damaging Het
Tbc1d8 T C 1: 39,411,596 (GRCm39) E1080G possibly damaging Het
Tll1 A C 8: 64,524,344 (GRCm39) S447R possibly damaging Het
Tmem132e G A 11: 82,334,198 (GRCm39) V662M probably damaging Het
Upf2 G T 2: 6,038,909 (GRCm39) probably benign Het
Uspl1 A G 5: 149,151,767 (GRCm39) E989G probably damaging Het
Vmn1r58 T C 7: 5,413,618 (GRCm39) H204R probably damaging Het
Vmn2r25 A T 6: 123,816,481 (GRCm39) C367S probably damaging Het
Vps13b A T 15: 35,623,803 (GRCm39) Q1240L probably benign Het
Xrcc1 C T 7: 24,269,744 (GRCm39) probably benign Het
Yeats2 T G 16: 20,005,175 (GRCm39) V385G 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
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
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'- TGGTCAGCCTTCCAAGTATTCCCG -3'
(R):5'- CCGTGAGAGTTCACAGAGTCATCG -3'

Sequencing Primer
(F):5'- agcattaaatgacaaaacatgcag -3'
(R):5'- TTCACAGAGTCATCGGCTCG -3'
Posted On 2013-07-11