Incidental Mutation 'R2426:Il1rl1'
ID 250180
Institutional Source Beutler Lab
Gene Symbol Il1rl1
Ensembl Gene ENSMUSG00000026069
Gene Name interleukin 1 receptor-like 1
Synonyms T1 gene, St2-rs1, ST2, T1, T1/ST2, Ly84, Fit-1, DER4, St2, ST2L
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 40429570-40465415 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 40446619 bp (GRCm38)
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
0610010F05Rik T A 11: 23,576,801 (GRCm38) R190W probably damaging Het
Abca14 G T 7: 120,283,223 (GRCm38) V1203L probably benign Het
Adamtsl1 G A 4: 86,156,788 (GRCm38) V131I probably benign Het
Adgra3 A T 5: 50,009,449 (GRCm38) M187K possibly damaging Het
Agbl1 T C 7: 76,421,902 (GRCm38) V324A probably damaging Het
Ahnak A T 19: 9,002,851 (GRCm38) I500F possibly damaging Het
Aldh1l1 A G 6: 90,598,284 (GRCm38) D851G probably damaging Het
Amot T C X: 145,476,291 (GRCm38) K460E probably damaging Het
Arhgef3 G T 14: 27,384,181 (GRCm38) E161* probably null Het
Atg9b A T 5: 24,386,994 (GRCm38) I669N probably damaging Het
AY761184 T G 8: 21,702,637 (GRCm38) K114N possibly damaging Het
Ccdc83 A G 7: 90,228,431 (GRCm38) Y268H probably damaging Het
Cep170 A G 1: 176,774,635 (GRCm38) S302P probably benign Het
Cyp4a31 T A 4: 115,571,016 (GRCm38) M303K probably damaging Het
Cyp4v3 T A 8: 45,317,776 (GRCm38) Y231F probably benign Het
Dock3 A T 9: 106,914,541 (GRCm38) L1411Q possibly damaging Het
Dsg1a T A 18: 20,336,804 (GRCm38) I629N probably damaging Het
Dst A T 1: 34,192,812 (GRCm38) H2837L probably benign Het
Fam114a2 G A 11: 57,493,080 (GRCm38) P343L probably benign Het
Fbrs A G 7: 127,487,339 (GRCm38) probably null Het
Fbxl13 A C 5: 21,522,137 (GRCm38) D620E probably damaging Het
Frmd4a T A 2: 4,529,862 (GRCm38) S164T probably damaging Het
Gdi2 T G 13: 3,562,034 (GRCm38) S330A probably benign Het
Gm5878 A T 6: 85,118,631 (GRCm38) M70K probably benign Het
H2-Q6 G T 17: 35,424,937 (GRCm38) A21S probably benign Het
Hfm1 A T 5: 106,847,653 (GRCm38) probably null Het
Hnmt C T 2: 24,019,155 (GRCm38) C82Y probably benign Het
Ints1 A T 5: 139,771,814 (GRCm38) probably null Het
Kcne4 C A 1: 78,817,971 (GRCm38) A112E possibly damaging Het
Krt32 T C 11: 100,086,366 (GRCm38) K236R possibly damaging Het
Maml2 T C 9: 13,706,498 (GRCm38) L380P probably damaging Het
Meis1 A T 11: 18,988,356 (GRCm38) D218E possibly damaging Het
Mon1b G A 8: 113,639,120 (GRCm38) G360D probably damaging Het
Mpp4 A G 1: 59,130,057 (GRCm38) S383P probably damaging Het
Neb A G 2: 52,169,053 (GRCm38) probably null Het
Nlgn2 A T 11: 69,827,086 (GRCm38) I431N probably damaging Het
Nr2e1 A G 10: 42,563,485 (GRCm38) L134P probably damaging Het
Olfr329-ps A T 11: 58,543,094 (GRCm38) Y127* probably null Het
Olfr371 T C 8: 85,231,064 (GRCm38) S190P probably damaging Het
Olfr777 T C 10: 129,269,266 (GRCm38) Q19R probably benign Het
Opcml G A 9: 28,903,367 (GRCm38) probably null Het
Pate2 A T 9: 35,670,480 (GRCm38) probably null Het
Pgr G A 9: 8,900,717 (GRCm38) V84M probably damaging Het
Pigu A T 2: 155,299,082 (GRCm38) V296D probably damaging Het
Plcb2 G A 2: 118,715,649 (GRCm38) T555M probably damaging Het
Pld5 T G 1: 175,963,976 (GRCm38) D426A probably benign Het
Prdm2 G T 4: 143,111,750 (GRCm38) C1679* probably null Het
Psme2b A T 11: 48,946,063 (GRCm38) V19D probably benign Het
Ptpn9 A T 9: 57,027,428 (GRCm38) N159Y possibly damaging Het
Sdc3 A T 4: 130,818,803 (GRCm38) T64S unknown Het
Serping1 T G 2: 84,770,219 (GRCm38) S260R probably damaging Het
Slc20a1 T C 2: 129,208,230 (GRCm38) F436S probably benign Het
Sntb1 A T 15: 55,906,179 (GRCm38) I138N probably damaging Het
Sorcs3 A T 19: 48,722,925 (GRCm38) Y643F probably damaging Het
Spink1 G T 18: 43,735,222 (GRCm38) S23* probably null Het
Stag1 T C 9: 100,845,116 (GRCm38) probably null Het
Tnfaip8l1 G A 17: 56,172,030 (GRCm38) V107I probably benign Het
Tnik A G 3: 28,646,681 (GRCm38) S907G probably damaging Het
Ttf1 T A 2: 29,067,185 (GRCm38) M489K probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm38) P46S probably benign Het
Usp54 G A 14: 20,564,940 (GRCm38) A811V probably benign Het
Xirp2 A G 2: 67,514,471 (GRCm38) N2352S probably benign Het
Zan T C 5: 137,388,992 (GRCm38) Y4933C unknown Het
Zbtb8a A G 4: 129,360,219 (GRCm38) S161P probably benign Het
Zkscan5 A T 5: 145,220,940 (GRCm38) I751L probably benign Het
Zscan4d A G 7: 11,165,095 (GRCm38) F85S probably damaging Het
Zzef1 A G 11: 72,915,265 (GRCm38) M2647V probably benign Het
Other mutations in Il1rl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01293:Il1rl1 APN 1 40,446,216 (GRCm38) missense possibly damaging 0.75
IGL01413:Il1rl1 APN 1 40,446,169 (GRCm38) missense possibly damaging 0.85
IGL01939:Il1rl1 APN 1 40,462,008 (GRCm38) missense possibly damaging 0.80
IGL02121:Il1rl1 APN 1 40,442,303 (GRCm38) splice site probably benign
IGL02160:Il1rl1 APN 1 40,461,837 (GRCm38) missense probably benign 0.00
IGL02695:Il1rl1 APN 1 40,446,558 (GRCm38) missense possibly damaging 0.47
R0007:Il1rl1 UTSW 1 40,446,171 (GRCm38) missense possibly damaging 0.95
R0105:Il1rl1 UTSW 1 40,442,574 (GRCm38) splice site probably benign
R0200:Il1rl1 UTSW 1 40,441,303 (GRCm38) missense possibly damaging 0.95
R0363:Il1rl1 UTSW 1 40,442,574 (GRCm38) splice site probably benign
R0508:Il1rl1 UTSW 1 40,451,717 (GRCm38) missense possibly damaging 0.87
R0637:Il1rl1 UTSW 1 40,442,574 (GRCm38) splice site probably benign
R0676:Il1rl1 UTSW 1 40,442,574 (GRCm38) splice site probably benign
R1371:Il1rl1 UTSW 1 40,442,713 (GRCm38) missense probably damaging 0.96
R2074:Il1rl1 UTSW 1 40,462,044 (GRCm38) missense probably damaging 0.99
R2309:Il1rl1 UTSW 1 40,442,657 (GRCm38) missense possibly damaging 0.46
R3983:Il1rl1 UTSW 1 40,446,663 (GRCm38) missense possibly damaging 0.73
R4601:Il1rl1 UTSW 1 40,441,300 (GRCm38) missense possibly damaging 0.88
R4707:Il1rl1 UTSW 1 40,450,188 (GRCm38) missense probably damaging 0.96
R4720:Il1rl1 UTSW 1 40,446,678 (GRCm38) missense probably benign 0.24
R4784:Il1rl1 UTSW 1 40,450,188 (GRCm38) missense probably damaging 0.96
R5137:Il1rl1 UTSW 1 40,450,125 (GRCm38) missense probably benign
R5765:Il1rl1 UTSW 1 40,461,943 (GRCm38) missense probably benign 0.06
R5953:Il1rl1 UTSW 1 40,442,673 (GRCm38) missense probably benign 0.05
R6339:Il1rl1 UTSW 1 40,461,856 (GRCm38) missense possibly damaging 0.88
R7176:Il1rl1 UTSW 1 40,446,606 (GRCm38) missense probably damaging 1.00
R7677:Il1rl1 UTSW 1 40,446,704 (GRCm38) makesense probably null
R8129:Il1rl1 UTSW 1 40,451,827 (GRCm38) missense probably damaging 0.98
R8670:Il1rl1 UTSW 1 40,441,399 (GRCm38) 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