Incidental Mutation 'R2426:Il1rl1'
ID 250180
Institutional Source Beutler Lab
Gene Symbol Il1rl1
Ensembl Gene ENSMUSG00000026069
Gene Name interleukin 1 receptor-like 1
Synonyms DER4, Ly84, St2-rs1, St2, T1/ST2, ST2L, ST2, Fit-1, T1, T1 gene
MMRRC Submission 040388-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2426 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 40468730-40504575 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 40485779 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 310 (A310D)
Ref Sequence ENSEMBL: ENSMUSP00000134351 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053043] [ENSMUST00000097772] [ENSMUST00000173514] [ENSMUST00000174335]
AlphaFold P14719
Predicted Effect probably damaging
Transcript: ENSMUST00000053043
AA Change: A310D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000054914
Gene: ENSMUSG00000026069
AA Change: A310D

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
IGc2 33 100 7.35e-11 SMART
IGc2 130 194 8.85e-5 SMART
IG_like 225 326 2.66e1 SMART
transmembrane domain 333 355 N/A INTRINSIC
TIR 381 543 4.23e-35 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000097772
AA Change: A310D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095379
Gene: ENSMUSG00000026069
AA Change: A310D

DomainStartEndE-ValueType
IGc2 33 100 7.35e-11 SMART
IGc2 130 194 8.85e-5 SMART
IG_like 225 326 2.66e1 SMART
transmembrane domain 333 355 N/A INTRINSIC
TIR 381 543 4.23e-35 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000173514
AA Change: A310D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133784
Gene: ENSMUSG00000026069
AA Change: A310D

DomainStartEndE-ValueType
IGc2 33 100 7.35e-11 SMART
IGc2 130 194 8.85e-5 SMART
IG_like 225 326 2.66e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000174335
AA Change: A310D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134351
Gene: ENSMUSG00000026069
AA Change: A310D

DomainStartEndE-ValueType
IGc2 33 100 7.35e-11 SMART
IGc2 130 194 8.85e-5 SMART
IG_like 225 326 2.66e1 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the interleukin 1 receptor family. Studies of the similar gene in mouse suggested that this receptor can be induced by proinflammatory stimuli, and may be involved in the function of helper T cells. This gene, interleukin 1 receptor, type I (IL1R1), interleukin 1 receptor, type II (IL1R2) and interleukin 1 receptor-like 2 (IL1RL2) form a cytokine receptor gene cluster in a region mapped to chromosome 2q12. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display an abnormal Th2 type inflammatory response. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 G T 7: 119,882,446 (GRCm39) V1203L probably benign Het
Adamtsl1 G A 4: 86,075,025 (GRCm39) V131I probably benign Het
Adgra3 A T 5: 50,166,791 (GRCm39) M187K possibly damaging Het
Agbl1 T C 7: 76,071,650 (GRCm39) V324A probably damaging Het
Ahnak A T 19: 8,980,215 (GRCm39) I500F possibly damaging Het
Aldh1l1 A G 6: 90,575,266 (GRCm39) D851G probably damaging Het
Amot T C X: 144,259,287 (GRCm39) K460E probably damaging Het
Arhgef3 G T 14: 27,106,138 (GRCm39) E161* probably null Het
Atg9b A T 5: 24,591,992 (GRCm39) I669N probably damaging Het
Ccdc83 A G 7: 89,877,639 (GRCm39) Y268H probably damaging Het
Cep170 A G 1: 176,602,201 (GRCm39) S302P probably benign Het
Cyp4a31 T A 4: 115,428,213 (GRCm39) M303K probably damaging Het
Cyp4v3 T A 8: 45,770,813 (GRCm39) Y231F probably benign Het
Defa39 T G 8: 22,192,653 (GRCm39) K114N possibly damaging Het
Dock3 A T 9: 106,791,740 (GRCm39) L1411Q possibly damaging Het
Dsg1a T A 18: 20,469,861 (GRCm39) I629N probably damaging Het
Dst A T 1: 34,231,893 (GRCm39) H2837L probably benign Het
Fam114a2 G A 11: 57,383,906 (GRCm39) P343L probably benign Het
Fbrs A G 7: 127,086,511 (GRCm39) probably null Het
Fbxl13 A C 5: 21,727,135 (GRCm39) D620E probably damaging Het
Frmd4a T A 2: 4,534,673 (GRCm39) S164T probably damaging Het
Gdi2 T G 13: 3,612,034 (GRCm39) S330A probably benign Het
Gm5878 A T 6: 85,095,613 (GRCm39) M70K probably benign Het
H2-Q6 G T 17: 35,643,913 (GRCm39) A21S probably benign Het
Hfm1 A T 5: 106,995,519 (GRCm39) probably null Het
Hnmt C T 2: 23,909,167 (GRCm39) C82Y probably benign Het
Ints1 A T 5: 139,757,569 (GRCm39) probably null Het
Kcne4 C A 1: 78,795,688 (GRCm39) A112E possibly damaging Het
Krt32 T C 11: 99,977,192 (GRCm39) K236R possibly damaging Het
Maml2 T C 9: 13,617,794 (GRCm39) L380P probably damaging Het
Meis1 A T 11: 18,938,356 (GRCm39) D218E possibly damaging Het
Mon1b G A 8: 114,365,752 (GRCm39) G360D probably damaging Het
Mpp4 A G 1: 59,169,216 (GRCm39) S383P probably damaging Het
Neb A G 2: 52,059,065 (GRCm39) probably null Het
Nlgn2 A T 11: 69,717,912 (GRCm39) I431N probably damaging Het
Nr2e1 A G 10: 42,439,481 (GRCm39) L134P probably damaging Het
Opcml G A 9: 28,814,663 (GRCm39) probably null Het
Or2t29 A T 11: 58,433,920 (GRCm39) Y127* probably null Het
Or6c207 T C 10: 129,105,135 (GRCm39) Q19R probably benign Het
Or7c19 T C 8: 85,957,693 (GRCm39) S190P probably damaging Het
Pate2 A T 9: 35,581,776 (GRCm39) probably null Het
Pgr G A 9: 8,900,718 (GRCm39) V84M probably damaging Het
Pigu A T 2: 155,141,002 (GRCm39) V296D probably damaging Het
Plcb2 G A 2: 118,546,130 (GRCm39) T555M probably damaging Het
Pld5 T G 1: 175,791,542 (GRCm39) D426A probably benign Het
Prdm2 G T 4: 142,838,320 (GRCm39) C1679* probably null Het
Psme2b A T 11: 48,836,890 (GRCm39) V19D probably benign Het
Ptpn9 A T 9: 56,934,712 (GRCm39) N159Y possibly damaging Het
Sanbr T A 11: 23,526,801 (GRCm39) R190W probably damaging Het
Sdc3 A T 4: 130,546,114 (GRCm39) T64S unknown Het
Serping1 T G 2: 84,600,563 (GRCm39) S260R probably damaging Het
Slc20a1 T C 2: 129,050,150 (GRCm39) F436S probably benign Het
Sntb1 A T 15: 55,769,575 (GRCm39) I138N probably damaging Het
Sorcs3 A T 19: 48,711,364 (GRCm39) Y643F probably damaging Het
Spink1 G T 18: 43,868,287 (GRCm39) S23* probably null Het
Stag1 T C 9: 100,727,169 (GRCm39) probably null Het
Tnfaip8l1 G A 17: 56,479,030 (GRCm39) V107I probably benign Het
Tnik A G 3: 28,700,830 (GRCm39) S907G probably damaging Het
Ttf1 T A 2: 28,957,197 (GRCm39) M489K probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Usp54 G A 14: 20,615,008 (GRCm39) A811V probably benign Het
Xirp2 A G 2: 67,344,815 (GRCm39) N2352S probably benign Het
Zan T C 5: 137,387,254 (GRCm39) Y4933C unknown Het
Zbtb8a A G 4: 129,254,012 (GRCm39) S161P probably benign Het
Zkscan5 A T 5: 145,157,750 (GRCm39) I751L probably benign Het
Zscan4d A G 7: 10,899,022 (GRCm39) F85S probably damaging Het
Zzef1 A G 11: 72,806,091 (GRCm39) M2647V probably benign Het
Other mutations in Il1rl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01293:Il1rl1 APN 1 40,485,376 (GRCm39) missense possibly damaging 0.75
IGL01413:Il1rl1 APN 1 40,485,329 (GRCm39) missense possibly damaging 0.85
IGL01939:Il1rl1 APN 1 40,501,168 (GRCm39) missense possibly damaging 0.80
IGL02121:Il1rl1 APN 1 40,481,463 (GRCm39) splice site probably benign
IGL02160:Il1rl1 APN 1 40,500,997 (GRCm39) missense probably benign 0.00
IGL02695:Il1rl1 APN 1 40,485,718 (GRCm39) missense possibly damaging 0.47
R0007:Il1rl1 UTSW 1 40,485,331 (GRCm39) missense possibly damaging 0.95
R0105:Il1rl1 UTSW 1 40,481,734 (GRCm39) splice site probably benign
R0200:Il1rl1 UTSW 1 40,480,463 (GRCm39) missense possibly damaging 0.95
R0363:Il1rl1 UTSW 1 40,481,734 (GRCm39) splice site probably benign
R0508:Il1rl1 UTSW 1 40,490,877 (GRCm39) missense possibly damaging 0.87
R0637:Il1rl1 UTSW 1 40,481,734 (GRCm39) splice site probably benign
R0676:Il1rl1 UTSW 1 40,481,734 (GRCm39) splice site probably benign
R1371:Il1rl1 UTSW 1 40,481,873 (GRCm39) missense probably damaging 0.96
R2074:Il1rl1 UTSW 1 40,501,204 (GRCm39) missense probably damaging 0.99
R2309:Il1rl1 UTSW 1 40,481,817 (GRCm39) missense possibly damaging 0.46
R3983:Il1rl1 UTSW 1 40,485,823 (GRCm39) missense possibly damaging 0.73
R4601:Il1rl1 UTSW 1 40,480,460 (GRCm39) missense possibly damaging 0.88
R4707:Il1rl1 UTSW 1 40,489,348 (GRCm39) missense probably damaging 0.96
R4720:Il1rl1 UTSW 1 40,485,838 (GRCm39) missense probably benign 0.24
R4784:Il1rl1 UTSW 1 40,489,348 (GRCm39) missense probably damaging 0.96
R5137:Il1rl1 UTSW 1 40,489,285 (GRCm39) missense probably benign
R5765:Il1rl1 UTSW 1 40,501,103 (GRCm39) missense probably benign 0.06
R5953:Il1rl1 UTSW 1 40,481,833 (GRCm39) missense probably benign 0.05
R6339:Il1rl1 UTSW 1 40,501,016 (GRCm39) missense possibly damaging 0.88
R7176:Il1rl1 UTSW 1 40,485,766 (GRCm39) missense probably damaging 1.00
R7677:Il1rl1 UTSW 1 40,485,864 (GRCm39) makesense probably null
R8129:Il1rl1 UTSW 1 40,490,987 (GRCm39) missense probably damaging 0.98
R8670:Il1rl1 UTSW 1 40,480,559 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGAAGCTGAAACATCCCTCTG -3'
(R):5'- AAGACCAGATTTAAGGAGCTTCC -3'

Sequencing Primer
(F):5'- TGTGCCTCCTCACAGCTGG -3'
(R):5'- GGCCAACTATTCCCTTGATCATGATG -3'
Posted On 2014-11-12