Incidental Mutation 'IGL00466:Il1rapl2'
ID 5637
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il1rapl2
Ensembl Gene ENSMUSG00000059203
Gene Name interleukin 1 receptor accessory protein-like 2
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL00466
Quality Score
Status
Chromosome X
Chromosomal Location 136471357-137747695 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 137735292 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 403 (D403G)
Ref Sequence ENSEMBL: ENSMUSP00000108686 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075471] [ENSMUST00000113063]
AlphaFold Q9ERS6
Predicted Effect probably damaging
Transcript: ENSMUST00000075471
AA Change: D403G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074917
Gene: ENSMUSG00000059203
AA Change: D403G

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
IG 38 134 3.25e-3 SMART
IG 149 232 1.84e-2 SMART
IG 250 349 8.38e-6 SMART
transmembrane domain 357 379 N/A INTRINSIC
TIR 401 559 2.27e-26 SMART
low complexity region 643 657 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113063
AA Change: D403G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108686
Gene: ENSMUSG00000059203
AA Change: D403G

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
IG 38 134 3.25e-3 SMART
IG 149 232 1.84e-2 SMART
IG 250 349 8.38e-6 SMART
transmembrane domain 357 379 N/A INTRINSIC
TIR 401 559 2.27e-26 SMART
low complexity region 643 657 N/A INTRINSIC
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. This protein is similar to the interleukin 1 accessory proteins, and is most closely related to interleukin 1 receptor accessory protein-like 1 (IL1RAPL1). This gene and IL1RAPL1 are located at a region on chromosome X that is associated with X-linked non-syndromic mental retardation. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 C T 19: 57,056,618 (GRCm39) A359T probably damaging Het
Atm A G 9: 53,410,412 (GRCm39) probably benign Het
Ccdc59 G A 10: 105,683,035 (GRCm39) S240N probably benign Het
Ccdc59 A T 10: 105,683,034 (GRCm39) S240C probably benign Het
Chrm1 A T 19: 8,655,438 (GRCm39) I48F probably benign Het
Col28a1 T C 6: 8,022,081 (GRCm39) probably benign Het
Gys2 G A 6: 142,409,016 (GRCm39) Q80* probably null Het
Hck A T 2: 152,978,653 (GRCm39) T289S probably benign Het
Kif16b A T 2: 142,689,955 (GRCm39) L319* probably null Het
Kit T C 5: 75,771,479 (GRCm39) I212T probably benign Het
Mroh5 G A 15: 73,664,638 (GRCm39) probably benign Het
Muc6 T C 7: 141,232,169 (GRCm39) Y986C possibly damaging Het
Nln A C 13: 104,172,153 (GRCm39) V641G probably damaging Het
Nyap2 C A 1: 81,169,695 (GRCm39) L151I probably damaging Het
Plce1 A G 19: 38,709,473 (GRCm39) Y1109C probably damaging Het
Slc10a4 T C 5: 73,169,263 (GRCm39) I296T probably damaging Het
Slc35c1 T A 2: 92,284,703 (GRCm39) I304F probably benign Het
Stxbp2 C T 8: 3,684,065 (GRCm39) A124V probably benign Het
Stxbp5 A G 10: 9,675,694 (GRCm39) Y642H probably damaging Het
Tecta T C 9: 42,243,844 (GRCm39) T2003A probably damaging Het
Zfp804a C A 2: 81,884,219 (GRCm39) L29I probably benign Het
Other mutations in Il1rapl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01147:Il1rapl2 APN X 137,121,325 (GRCm39) splice site probably benign
IGL02048:Il1rapl2 APN X 137,690,398 (GRCm39) missense probably benign 0.19
IGL02500:Il1rapl2 APN X 137,747,252 (GRCm39) missense possibly damaging 0.86
IGL03247:Il1rapl2 APN X 137,690,429 (GRCm39) missense probably damaging 1.00
Posted On 2012-04-20