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
Is this an essential gene? Not available question?
Stock # IGL02500
Quality Score
Status
Chromosome X
Chromosomal Location 137570608-138846946 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 138846503 bp (GRCm38)
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: 118,618,926 I409N possibly damaging Het
Aoc3 T A 11: 101,337,389 L674* probably null Het
Arhgef10 G A 8: 14,961,238 E265K probably damaging Het
Cd53 A G 3: 106,768,826 I75T probably damaging Het
Col26a1 A T 5: 136,754,339 L235* probably null Het
Crem G T 18: 3,273,477 Q60K probably damaging Het
Cyp2j8 T C 4: 96,470,650 D344G probably damaging Het
Cyr61 T C 3: 145,648,700 K152R probably damaging Het
Dchs1 T C 7: 105,755,806 T2510A probably benign Het
Dnajc4 T C 19: 6,988,088 Q215R possibly damaging Het
Espl1 A G 15: 102,315,800 H1262R probably benign Het
Exoc2 G T 13: 30,911,196 T239K probably damaging Het
Fzd6 A T 15: 39,031,386 S316C probably damaging Het
Htra1 A G 7: 130,984,974 K429R probably benign Het
Kcnn3 T A 3: 89,661,112 probably benign Het
Kiz G A 2: 146,863,813 V98I probably benign Het
Klk1b24 A T 7: 44,188,324 probably benign Het
Lrrc30 T A 17: 67,631,862 N241I probably damaging Het
Map2k4 A G 11: 65,696,310 V288A probably damaging Het
Mefv T C 16: 3,713,577 H459R probably damaging Het
Mettl21a G T 1: 64,608,054 Q115K probably benign Het
Msra A G 14: 64,285,188 probably benign Het
Myh8 G A 11: 67,305,710 R1752H probably benign Het
Nrp1 T C 8: 128,425,799 F163S possibly damaging Het
Ntng1 T A 3: 110,135,330 Y60F probably damaging Het
Pax6 G T 2: 105,692,770 R317L probably benign Het
Pcdh17 A G 14: 84,533,469 E1129G probably benign Het
Phlpp2 C T 8: 109,913,618 H472Y probably benign Het
Pip5k1c C A 10: 81,317,321 probably null Het
Prkce A G 17: 86,168,914 N108D probably benign Het
Prkdc T G 16: 15,714,282 probably null Het
Ptprm T C 17: 66,920,048 Y702C probably damaging Het
Rbbp8nl T C 2: 180,279,329 T421A possibly damaging Het
Retnlg A T 16: 48,872,960 L33F probably benign Het
Slc16a7 T A 10: 125,230,933 Y279F probably damaging Het
Slc8a1 T C 17: 81,388,713 Y964C probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Sspo C A 6: 48,478,379 C3047* probably null Het
Tmprss11b C T 5: 86,667,323 probably null Het
Txnrd1 T G 10: 82,879,217 W98G probably damaging Het
Ulk1 A T 5: 110,809,134 I66N probably damaging Het
Ush2a A G 1: 188,822,696 Y3557C probably damaging Het
Vmn2r57 T A 7: 41,428,226 H172L probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zfp592 T A 7: 81,041,726 C1218S probably benign Het
Other mutations in Il1rapl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00466:Il1rapl2 APN X 138834543 missense probably damaging 1.00
IGL01147:Il1rapl2 APN X 138220576 splice site probably benign
IGL02048:Il1rapl2 APN X 138789649 missense probably benign 0.19
IGL03247:Il1rapl2 APN X 138789680 missense probably damaging 1.00
Posted On 2015-04-16