Incidental Mutation 'IGL02500:Il1rapl2'
ID 295986
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 # IGL02500
Quality Score
Status
Chromosome X
Chromosomal Location 136471357-137747695 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 137747252 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 647 (T647I)
Ref Sequence ENSEMBL: ENSMUSP00000108686 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075471] [ENSMUST00000113063]
AlphaFold Q9ERS6
Predicted Effect possibly damaging
Transcript: ENSMUST00000075471
AA Change: T647I

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000074917
Gene: ENSMUSG00000059203
AA Change: T647I

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 possibly damaging
Transcript: ENSMUST00000113063
AA Change: T647I

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108686
Gene: ENSMUSG00000059203
AA Change: T647I

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A T 14: 118,856,338 (GRCm39) I409N possibly damaging Het
Aoc3 T A 11: 101,228,215 (GRCm39) L674* probably null Het
Arhgef10 G A 8: 15,011,238 (GRCm39) E265K probably damaging Het
Ccn1 T C 3: 145,354,455 (GRCm39) K152R probably damaging Het
Cd53 A G 3: 106,676,142 (GRCm39) I75T probably damaging Het
Col26a1 A T 5: 136,783,193 (GRCm39) L235* probably null Het
Crem G T 18: 3,273,477 (GRCm39) Q60K probably damaging Het
Cyp2j8 T C 4: 96,358,887 (GRCm39) D344G probably damaging Het
Dchs1 T C 7: 105,405,013 (GRCm39) T2510A probably benign Het
Dnajc4 T C 19: 6,965,456 (GRCm39) Q215R possibly damaging Het
Espl1 A G 15: 102,224,235 (GRCm39) H1262R probably benign Het
Exoc2 G T 13: 31,095,179 (GRCm39) T239K probably damaging Het
Fzd6 A T 15: 38,894,781 (GRCm39) S316C probably damaging Het
Htra1 A G 7: 130,586,704 (GRCm39) K429R probably benign Het
Kcnn3 T A 3: 89,568,419 (GRCm39) probably benign Het
Kiz G A 2: 146,705,733 (GRCm39) V98I probably benign Het
Klk1b24 A T 7: 43,837,748 (GRCm39) probably benign Het
Lrrc30 T A 17: 67,938,857 (GRCm39) N241I probably damaging Het
Map2k4 A G 11: 65,587,136 (GRCm39) V288A probably damaging Het
Mefv T C 16: 3,531,441 (GRCm39) H459R probably damaging Het
Mettl21a G T 1: 64,647,213 (GRCm39) Q115K probably benign Het
Msra A G 14: 64,522,637 (GRCm39) probably benign Het
Myh8 G A 11: 67,196,536 (GRCm39) R1752H probably benign Het
Nrp1 T C 8: 129,152,280 (GRCm39) F163S possibly damaging Het
Ntng1 T A 3: 110,042,646 (GRCm39) Y60F probably damaging Het
Pax6 G T 2: 105,523,115 (GRCm39) R317L probably benign Het
Pcdh17 A G 14: 84,770,909 (GRCm39) E1129G probably benign Het
Phlpp2 C T 8: 110,640,250 (GRCm39) H472Y probably benign Het
Pip5k1c C A 10: 81,153,155 (GRCm39) probably null Het
Prkce A G 17: 86,476,342 (GRCm39) N108D probably benign Het
Prkdc T G 16: 15,532,146 (GRCm39) probably null Het
Ptprm T C 17: 67,227,043 (GRCm39) Y702C probably damaging Het
Rbbp8nl T C 2: 179,921,122 (GRCm39) T421A possibly damaging Het
Retnlg A T 16: 48,693,323 (GRCm39) L33F probably benign Het
Slc16a7 T A 10: 125,066,802 (GRCm39) Y279F probably damaging Het
Slc8a1 T C 17: 81,696,142 (GRCm39) Y964C probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Sspo C A 6: 48,455,313 (GRCm39) C3047* probably null Het
Tmprss11b C T 5: 86,815,182 (GRCm39) probably null Het
Txnrd1 T G 10: 82,715,051 (GRCm39) W98G probably damaging Het
Ulk1 A T 5: 110,957,000 (GRCm39) I66N probably damaging Het
Ush2a A G 1: 188,554,893 (GRCm39) Y3557C probably damaging Het
Vmn2r57 T A 7: 41,077,650 (GRCm39) H172L probably benign Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Zfp592 T A 7: 80,691,474 (GRCm39) C1218S probably benign 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
IGL02048:Il1rapl2 APN X 137,690,398 (GRCm39) missense probably benign 0.19
IGL03247:Il1rapl2 APN X 137,690,429 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16