Incidental Mutation 'R9748:Il1r1'
ID 732279
Institutional Source Beutler Lab
Gene Symbol Il1r1
Ensembl Gene ENSMUSG00000026072
Gene Name interleukin 1 receptor, type I
Synonyms IL-iR, IL-1R1, Il1r-1, CD121a, IL-1 receptor alpha chain
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R9748 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 40264240-40356417 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 40349496 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 351 (T351A)
Ref Sequence ENSEMBL: ENSMUSP00000027241 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027241] [ENSMUST00000114795]
AlphaFold P13504
Predicted Effect probably benign
Transcript: ENSMUST00000027241
AA Change: T351A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027241
Gene: ENSMUSG00000026072
AA Change: T351A

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IG 38 117 2.94e-1 SMART
IG_like 132 218 5.56e0 SMART
IG 236 333 1.35e0 SMART
Blast:TIR 347 381 1e-7 BLAST
TIR 387 544 1.93e-29 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114795
AA Change: T348A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110443
Gene: ENSMUSG00000026072
AA Change: T348A

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
IG 35 114 2.94e-1 SMART
IG_like 129 215 5.56e0 SMART
IG 233 330 1.35e0 SMART
Blast:TIR 344 378 1e-7 BLAST
TIR 384 541 1.93e-29 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytokine receptor that belongs to the interleukin-1 receptor family. The encoded protein is a receptor for interleukin-1 alpha, interleukin-1 beta, and interleukin-1 receptor antagonist. It is an important mediator involved in many cytokine-induced immune and inflammatory responses. This gene is located in a cluster of related cytokine receptor genes on chromosome 2q12. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to bacterial infection, reduced IL1b responsiveness, delayed tooth eruption, decreased susceptibility to experimental autoimmune uveoritinitis, decreased susceptibility to kidney reperfusion injury, and late onset obesity. [provided by MGI curators]
Allele List at MGI

All alleles(3) : Targeted, knock-out(2) Gene trapped(1)

Other mutations in this stock
Total: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 T C 8: 25,301,068 (GRCm39) T221A probably benign Het
Adamts12 G A 15: 11,310,628 (GRCm39) V962I probably damaging Het
Ano3 T A 2: 110,488,640 (GRCm39) I931F probably damaging Het
Anxa2r2 T A 13: 120,488,200 (GRCm39) E116D possibly damaging Het
Arih1 T G 9: 59,300,581 (GRCm39) D555A possibly damaging Het
Arsg A G 11: 109,381,452 (GRCm39) D65G probably damaging Het
Atp8b3 G A 10: 80,364,407 (GRCm39) T567I probably damaging Het
Camkk2 G C 5: 122,872,182 (GRCm39) R575G probably benign Het
Ccdc168 G T 1: 44,095,824 (GRCm39) S1758Y possibly damaging Het
Ccdc88b G T 19: 6,831,461 (GRCm39) L494M probably damaging Het
Cdc7 A G 5: 107,123,405 (GRCm39) K317E possibly damaging Het
Cfh A G 1: 140,090,687 (GRCm39) probably null Het
Cp T G 3: 20,043,335 (GRCm39) V1041G possibly damaging Het
Cpeb3 A G 19: 37,151,926 (GRCm39) V150A probably benign Het
Cyp7a1 T A 4: 6,269,216 (GRCm39) E352V probably damaging Het
Dnah9 T A 11: 65,976,290 (GRCm39) H1253L possibly damaging Het
Dsg3 T C 18: 20,672,761 (GRCm39) S811P possibly damaging Het
Efcab5 A T 11: 77,007,022 (GRCm39) Y867* probably null Het
Eif2ak1 A G 5: 143,819,031 (GRCm39) T231A probably damaging Het
Eif2ak4 T A 2: 118,247,730 (GRCm39) C256S probably benign Het
Eif5b A G 1: 38,090,241 (GRCm39) N1140S possibly damaging Het
Etnppl A T 3: 130,414,002 (GRCm39) M34L probably benign Het
Fcrl5 T G 3: 87,364,469 (GRCm39) C549W possibly damaging Het
Fhod1 G A 8: 106,058,323 (GRCm39) A811V probably damaging Het
Flcn C T 11: 59,692,980 (GRCm39) S198N probably benign Het
Fndc1 T A 17: 7,991,929 (GRCm39) H589L unknown Het
Gm8108 G T 14: 4,110,527 (GRCm38) probably benign Het
Hcn4 C T 9: 58,730,996 (GRCm39) R68W unknown Het
Igfn1 A G 1: 135,926,336 (GRCm39) L38P possibly damaging Het
Ildr2 T C 1: 166,096,889 (GRCm39) L36P probably damaging Het
Itgb1bp1 C T 12: 21,324,876 (GRCm39) C60Y probably damaging Het
Jrk A G 15: 74,579,225 (GRCm39) L20P probably damaging Het
Kif5c C T 2: 49,584,859 (GRCm39) A194V probably damaging Het
Lrp4 C T 2: 91,316,116 (GRCm39) L745F probably damaging Het
Ly9 A T 1: 171,428,722 (GRCm39) D299E possibly damaging Het
Mfsd1 C T 3: 67,499,910 (GRCm39) T185I possibly damaging Het
Mprip A G 11: 59,656,348 (GRCm39) Y808C probably damaging Het
Mrps2 C A 2: 28,359,594 (GRCm39) H150Q possibly damaging Het
Mtcl3 A T 10: 29,024,398 (GRCm39) D438V probably damaging Het
Mturn A T 6: 54,665,989 (GRCm39) probably null Het
Myo5a T C 9: 75,091,965 (GRCm39) S1205P probably damaging Het
Nckap5 G A 1: 125,953,939 (GRCm39) P871L probably damaging Het
Ndst3 T A 3: 123,421,631 (GRCm39) I401F probably benign Het
Nek4 G A 14: 30,709,114 (GRCm39) V723M possibly damaging Het
Nfe2l2 A G 2: 75,506,667 (GRCm39) S478P probably damaging Het
Nol6 T C 4: 41,123,538 (GRCm39) Y70C probably damaging Het
Nup88 T C 11: 70,860,497 (GRCm39) E94G probably benign Het
Oas1h A T 5: 121,005,088 (GRCm39) N179Y probably damaging Het
Or1o11 T G 17: 37,756,595 (GRCm39) V61G probably benign Het
Or8b39 T A 9: 37,996,353 (GRCm39) S74T probably benign Het
Otof T C 5: 30,540,998 (GRCm39) D847G probably damaging Het
Pak1 C A 7: 97,547,842 (GRCm39) D331E possibly damaging Het
Pkd1l3 T C 8: 110,373,555 (GRCm39) W1374R probably benign Het
Pkdrej G T 15: 85,704,871 (GRCm39) T355K possibly damaging Het
Pramel27 A G 4: 143,579,892 (GRCm39) *492W probably null Het
Prkcd A T 14: 30,320,800 (GRCm39) F607I possibly damaging Het
Prrc2c A G 1: 162,535,435 (GRCm39) S775P unknown Het
Prss16 G T 13: 22,192,504 (GRCm39) H154N possibly damaging Het
Psme2b T C 11: 48,836,779 (GRCm39) D56G possibly damaging Het
Rapsn C T 2: 90,875,823 (GRCm39) P400L probably damaging Het
Rptn A G 3: 93,304,761 (GRCm39) D698G possibly damaging Het
Rragc T C 4: 123,818,658 (GRCm39) V291A possibly damaging Het
Rras2 A G 7: 113,716,629 (GRCm39) probably null Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Scyl2 A C 10: 89,476,794 (GRCm39) M777R probably benign Het
Serhl G T 15: 82,998,597 (GRCm39) V235L probably benign Het
Sh2b3 T C 5: 121,955,874 (GRCm39) Y536C probably damaging Het
Sh3pxd2a T C 19: 47,257,093 (GRCm39) M570V probably benign Het
Slamf8 C T 1: 172,411,800 (GRCm39) V232M probably benign Het
Slc6a21 T A 7: 44,929,941 (GRCm39) L143Q probably damaging Het
Snx9 T A 17: 5,949,670 (GRCm39) D123E probably benign Het
Spopfm2 G A 3: 94,083,155 (GRCm39) H219Y probably damaging Het
Supt6 C A 11: 78,108,767 (GRCm39) R1178L probably damaging Het
Sycp2 T G 2: 178,025,304 (GRCm39) E379D probably damaging Het
Tekt2 C T 4: 126,217,444 (GRCm39) R207H probably damaging Het
Tg A G 15: 66,719,008 (GRCm39) M2655V possibly damaging Het
Tiam2 C T 17: 3,561,440 (GRCm39) T1335I probably benign Het
Tmem154 T A 3: 84,573,693 (GRCm39) L12Q possibly damaging Het
Trpv3 A T 11: 73,174,499 (GRCm39) I289F possibly damaging Het
Tubgcp3 A G 8: 12,699,758 (GRCm39) L365P probably damaging Het
Tulp4 T C 17: 6,291,480 (GRCm39) probably null Het
Tyr A G 7: 87,142,072 (GRCm39) S163P possibly damaging Het
Usp42 A T 5: 143,713,533 (GRCm39) probably null Het
Vmn2r94 A G 17: 18,463,989 (GRCm39) M767T probably benign Het
Wasl A G 6: 24,619,533 (GRCm39) V329A unknown Het
Wdr62 T A 7: 29,953,466 (GRCm39) M635L possibly damaging Het
Wee1 G T 7: 109,721,722 (GRCm39) E56* probably null Het
Zc3h12c C T 9: 52,055,231 (GRCm39) G193S probably damaging Het
Zfp236 T A 18: 82,637,008 (GRCm39) Q1426L possibly damaging Het
Zfp74 T C 7: 29,634,751 (GRCm39) Y319C probably damaging Het
Other mutations in Il1r1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01457:Il1r1 APN 1 40,352,330 (GRCm39) missense probably damaging 1.00
IGL01532:Il1r1 APN 1 40,334,088 (GRCm39) critical splice donor site probably null
IGL01610:Il1r1 APN 1 40,341,560 (GRCm39) missense probably benign 0.09
IGL01668:Il1r1 APN 1 40,352,489 (GRCm39) missense probably benign 0.31
IGL01729:Il1r1 APN 1 40,333,986 (GRCm39) missense probably damaging 1.00
IGL02201:Il1r1 APN 1 40,352,428 (GRCm39) missense probably damaging 0.97
IGL02229:Il1r1 APN 1 40,352,518 (GRCm39) missense probably damaging 0.99
IGL02428:Il1r1 APN 1 40,352,392 (GRCm39) missense possibly damaging 0.74
IGL02902:Il1r1 APN 1 40,341,569 (GRCm39) missense probably benign 0.09
G5030:Il1r1 UTSW 1 40,352,323 (GRCm39) missense possibly damaging 0.80
R0604:Il1r1 UTSW 1 40,321,406 (GRCm39) missense probably benign 0.36
R1515:Il1r1 UTSW 1 40,332,509 (GRCm39) nonsense probably null
R1530:Il1r1 UTSW 1 40,351,521 (GRCm39) missense probably benign 0.00
R1727:Il1r1 UTSW 1 40,332,424 (GRCm39) missense probably benign 0.16
R1957:Il1r1 UTSW 1 40,352,300 (GRCm39) nonsense probably null
R2163:Il1r1 UTSW 1 40,334,023 (GRCm39) missense probably benign 0.00
R2313:Il1r1 UTSW 1 40,352,470 (GRCm39) missense probably benign 0.19
R4345:Il1r1 UTSW 1 40,337,084 (GRCm39) missense probably benign 0.00
R4622:Il1r1 UTSW 1 40,351,580 (GRCm39) missense probably damaging 0.96
R4735:Il1r1 UTSW 1 40,332,455 (GRCm39) missense probably benign 0.00
R5033:Il1r1 UTSW 1 40,332,684 (GRCm39) missense probably damaging 1.00
R5586:Il1r1 UTSW 1 40,264,411 (GRCm39) start gained probably benign
R6375:Il1r1 UTSW 1 40,334,050 (GRCm39) missense probably damaging 1.00
R6383:Il1r1 UTSW 1 40,352,495 (GRCm39) missense possibly damaging 0.58
R6618:Il1r1 UTSW 1 40,339,971 (GRCm39) missense probably damaging 0.97
R7169:Il1r1 UTSW 1 40,332,519 (GRCm39) critical splice donor site probably null
R7384:Il1r1 UTSW 1 40,321,421 (GRCm39) missense possibly damaging 0.64
R7798:Il1r1 UTSW 1 40,349,526 (GRCm39) missense probably benign
R8040:Il1r1 UTSW 1 40,352,509 (GRCm39) missense probably benign 0.01
R8129:Il1r1 UTSW 1 40,341,447 (GRCm39) missense probably benign 0.04
R9158:Il1r1 UTSW 1 40,332,391 (GRCm39) nonsense probably null
R9643:Il1r1 UTSW 1 40,341,532 (GRCm39) missense probably damaging 1.00
R9723:Il1r1 UTSW 1 40,332,721 (GRCm39) missense probably benign 0.00
RF007:Il1r1 UTSW 1 40,352,438 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGGTTTTCTCTTCCTGAGC -3'
(R):5'- AAGAGCCTTCAGGACAAATGC -3'

Sequencing Primer
(F):5'- GAATTTCATTGCCTAGCTCATTTGTG -3'
(R):5'- GAGCCTTCAGGACAAATGCTATTC -3'
Posted On 2022-11-14