Incidental Mutation 'IGL02048:Il1rapl2'
ID 185004
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 # IGL02048
Quality Score
Status
Chromosome X
Chromosomal Location 136471357-137747695 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 137690398 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 288 (I288V)
Ref Sequence ENSEMBL: ENSMUSP00000108686 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075471] [ENSMUST00000113063]
AlphaFold Q9ERS6
Predicted Effect probably benign
Transcript: ENSMUST00000075471
AA Change: I288V

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000074917
Gene: ENSMUSG00000059203
AA Change: I288V

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 benign
Transcript: ENSMUST00000113063
AA Change: I288V

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000108686
Gene: ENSMUSG00000059203
AA Change: I288V

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 C T 4: 53,069,831 (GRCm39) D1288N probably damaging Het
Abcc1 T C 16: 14,229,383 (GRCm39) F372L probably damaging Het
Adcy2 G T 13: 69,036,186 (GRCm39) N158K possibly damaging Het
Apba1 A G 19: 23,915,000 (GRCm39) probably null Het
Arap3 T C 18: 38,130,032 (GRCm39) E43G possibly damaging Het
Bet1 A T 6: 4,082,456 (GRCm39) probably null Het
Blm A G 7: 80,152,709 (GRCm39) probably benign Het
Brinp1 T C 4: 68,681,379 (GRCm39) I384V probably benign Het
Cyp3a13 T C 5: 137,917,257 (GRCm39) probably benign Het
Dlg5 A T 14: 24,222,271 (GRCm39) I480N possibly damaging Het
Exoc3l4 A G 12: 111,394,917 (GRCm39) K538R probably benign Het
Flna G T X: 73,272,106 (GRCm39) T2008K probably benign Het
Hc T A 2: 34,886,039 (GRCm39) Q1388L probably benign Het
Ifitm1 T C 7: 140,548,205 (GRCm39) S13P probably benign Het
Il31 C T 5: 123,618,553 (GRCm39) V157M possibly damaging Het
N4bp2l1 A G 5: 150,500,103 (GRCm39) probably null Het
Nell1 T C 7: 49,869,355 (GRCm39) I210T probably damaging Het
Or52b3 T C 7: 102,204,090 (GRCm39) Y200H probably damaging Het
Or7e176 T A 9: 20,171,784 (GRCm39) I216N possibly damaging Het
Phf1 A G 17: 27,153,515 (GRCm39) probably benign Het
Phf10 G A 17: 15,165,411 (GRCm39) P482S probably benign Het
Ppp6r3 T G 19: 3,523,848 (GRCm39) M522L possibly damaging Het
Qtrt1 T C 9: 21,328,651 (GRCm39) L205P probably damaging Het
Vmn2r11 T C 5: 109,202,658 (GRCm39) I140V probably benign Het
Xylt2 C T 11: 94,557,171 (GRCm39) E107K possibly damaging Het
Zfp512b A T 2: 181,231,715 (GRCm39) F155Y possibly damaging Het
Zfyve27 A G 19: 42,174,296 (GRCm39) D314G probably damaging Het
Other mutations in Il1rapl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00466:Il1rapl2 APN X 137,735,292 (GRCm39) missense probably damaging 1.00
IGL01147:Il1rapl2 APN X 137,121,325 (GRCm39) splice site probably benign
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 2014-05-07