Incidental Mutation 'IGL02695:Il1rl1'
ID303893
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il1rl1
Ensembl Gene ENSMUSG00000026069
Gene Nameinterleukin 1 receptor-like 1
SynonymsT1 gene, St2-rs1, ST2, T1, T1/ST2, Ly84, Fit-1, DER4, St2, ST2L
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02695
Quality Score
Status
Chromosome1
Chromosomal Location40429570-40465415 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 40446558 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 290 (S290P)
Ref Sequence ENSEMBL: ENSMUSP00000134351 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053043] [ENSMUST00000097772] [ENSMUST00000173514] [ENSMUST00000174335]
Predicted Effect possibly damaging
Transcript: ENSMUST00000053043
AA Change: S290P

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000054914
Gene: ENSMUSG00000026069
AA Change: S290P

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 possibly damaging
Transcript: ENSMUST00000097772
AA Change: S290P

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000095379
Gene: ENSMUSG00000026069
AA Change: S290P

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 possibly damaging
Transcript: ENSMUST00000173514
AA Change: S290P

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000133784
Gene: ENSMUSG00000026069
AA Change: S290P

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 possibly damaging
Transcript: ENSMUST00000174335
AA Change: S290P

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000134351
Gene: ENSMUSG00000026069
AA Change: S290P

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
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 A T 14: 66,050,480 M389K probably benign Het
Adamts4 C A 1: 171,252,634 T252K probably damaging Het
Adgrb2 G A 4: 130,018,832 G1293D probably damaging Het
Ankfn1 T C 11: 89,391,819 E1013G probably damaging Het
Ankrd34b C A 13: 92,439,612 H451N possibly damaging Het
Cd300c2 C T 11: 115,001,553 probably benign Het
Cntnap3 T G 13: 64,772,132 Q637P probably benign Het
Cpne6 A T 14: 55,514,580 I265F probably damaging Het
Dot1l C A 10: 80,777,608 T18K probably damaging Het
Fam83c T C 2: 155,831,515 D251G probably benign Het
Fyb A G 15: 6,580,921 K325R probably damaging Het
Gas2l2 T A 11: 83,422,642 I615F probably damaging Het
Gigyf2 A G 1: 87,416,827 N494S probably benign Het
Gm6614 A G 6: 141,987,760 V433A probably damaging Het
Gnaz T C 10: 74,992,142 probably null Het
Haus5 A T 7: 30,663,277 L36Q probably damaging Het
Hecw2 C T 1: 53,926,209 G486D possibly damaging Het
Hmcn2 T C 2: 31,408,973 F2777S possibly damaging Het
Itgam G T 7: 128,085,941 A409S possibly damaging Het
Kdm5b T A 1: 134,604,485 M467K possibly damaging Het
Lama2 A C 10: 27,000,775 V2725G probably benign Het
Lhpp G A 7: 132,650,334 R234Q probably damaging Het
Maf1 T C 15: 76,352,755 S65P possibly damaging Het
Mgat5 T A 1: 127,412,131 H416Q probably damaging Het
Mta2 A G 19: 8,948,364 T408A probably benign Het
Neb T A 2: 52,255,591 I2974F probably damaging Het
Neb C T 2: 52,211,596 probably benign Het
Olfr153 C T 2: 87,532,117 T28I probably benign Het
Olfr348 C T 2: 36,787,320 S265L possibly damaging Het
Olfr656 A G 7: 104,618,471 H264R probably damaging Het
Olfr710 A G 7: 106,944,663 S113P possibly damaging Het
Pcca T A 14: 122,582,738 probably benign Het
Prlr T C 15: 10,328,365 F309L probably benign Het
Slc28a1 A T 7: 81,167,991 Y536F probably benign Het
Stab1 T A 14: 31,159,271 N601Y probably damaging Het
Stil G T 4: 115,016,175 V332F probably damaging Het
Stk11 A G 10: 80,125,477 probably null Het
Tmem59 A G 4: 107,193,314 N147S probably benign Het
Other mutations in Il1rl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01293:Il1rl1 APN 1 40446216 missense possibly damaging 0.75
IGL01413:Il1rl1 APN 1 40446169 missense possibly damaging 0.85
IGL01939:Il1rl1 APN 1 40462008 missense possibly damaging 0.80
IGL02121:Il1rl1 APN 1 40442303 splice site probably benign
IGL02160:Il1rl1 APN 1 40461837 missense probably benign 0.00
R0007:Il1rl1 UTSW 1 40446171 missense possibly damaging 0.95
R0105:Il1rl1 UTSW 1 40442574 splice site probably benign
R0200:Il1rl1 UTSW 1 40441303 missense possibly damaging 0.95
R0363:Il1rl1 UTSW 1 40442574 splice site probably benign
R0508:Il1rl1 UTSW 1 40451717 missense possibly damaging 0.87
R0637:Il1rl1 UTSW 1 40442574 splice site probably benign
R0676:Il1rl1 UTSW 1 40442574 splice site probably benign
R1371:Il1rl1 UTSW 1 40442713 missense probably damaging 0.96
R2074:Il1rl1 UTSW 1 40462044 missense probably damaging 0.99
R2309:Il1rl1 UTSW 1 40442657 missense possibly damaging 0.46
R2426:Il1rl1 UTSW 1 40446619 missense probably damaging 1.00
R3983:Il1rl1 UTSW 1 40446663 missense possibly damaging 0.73
R4601:Il1rl1 UTSW 1 40441300 missense possibly damaging 0.88
R4707:Il1rl1 UTSW 1 40450188 missense probably damaging 0.96
R4720:Il1rl1 UTSW 1 40446678 missense probably benign 0.24
R4784:Il1rl1 UTSW 1 40450188 missense probably damaging 0.96
R5137:Il1rl1 UTSW 1 40450125 missense probably benign
R5765:Il1rl1 UTSW 1 40461943 missense probably benign 0.06
R5953:Il1rl1 UTSW 1 40442673 missense probably benign 0.05
R6339:Il1rl1 UTSW 1 40461856 missense possibly damaging 0.88
R7176:Il1rl1 UTSW 1 40446606 missense probably damaging 1.00
R7677:Il1rl1 UTSW 1 40446704 makesense probably null
R8129:Il1rl1 UTSW 1 40451827 missense probably damaging 0.98
Posted On2015-04-16