Incidental Mutation 'IGL01147:Il1rapl2'
ID 53365
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 # IGL01147
Quality Score
Status
Chromosome X
Chromosomal Location 136471357-137747695 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 137121325 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108686 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075471] [ENSMUST00000113063]
AlphaFold Q9ERS6
Predicted Effect probably benign
Transcript: ENSMUST00000075471
SMART Domains Protein: ENSMUSP00000074917
Gene: ENSMUSG00000059203

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
SMART Domains Protein: ENSMUSP00000108686
Gene: ENSMUSG00000059203

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 noncoding transcript
Transcript: ENSMUST00000130879
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A G 11: 94,234,611 (GRCm39) probably benign Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Cdh1 C A 8: 107,387,516 (GRCm39) T472K probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cfap57 A T 4: 118,446,198 (GRCm39) V688E probably damaging Het
Cfp G A X: 20,794,981 (GRCm39) R155C probably damaging Het
Chst7 T C X: 19,926,991 (GRCm39) I346T probably damaging Het
Crybg2 G A 4: 133,816,575 (GRCm39) probably null Het
Ctsc T A 7: 87,951,479 (GRCm39) V242D possibly damaging Het
Cyp27b1 C T 10: 126,886,255 (GRCm39) T312I possibly damaging Het
D6Wsu163e A G 6: 126,921,815 (GRCm39) D80G possibly damaging Het
Enpp3 G T 10: 24,650,805 (GRCm39) T777K probably damaging Het
H2-M1 T A 17: 36,982,199 (GRCm39) H134L possibly damaging Het
Heatr1 T C 13: 12,452,793 (GRCm39) S2105P probably damaging Het
Herc2 T C 7: 55,806,697 (GRCm39) S2388P probably benign Het
Igkv6-23 A G 6: 70,237,922 (GRCm39) probably benign Het
Itpka T C 2: 119,573,254 (GRCm39) L132P probably benign Het
Jak3 T C 8: 72,136,047 (GRCm39) S616P probably benign Het
Kcnj11 T C 7: 45,748,193 (GRCm39) K377E probably benign Het
Map4k3 A T 17: 80,944,147 (GRCm39) probably null Het
Parp1 T C 1: 180,417,145 (GRCm39) I643T probably damaging Het
Phf3 T C 1: 30,843,250 (GRCm39) D1903G probably damaging Het
Picalm G T 7: 89,826,800 (GRCm39) S416I probably benign Het
Pkn2 T C 3: 142,534,770 (GRCm39) N285S probably benign Het
Sh3gl2 A C 4: 85,265,433 (GRCm39) probably benign Het
Smpd1 C A 7: 105,204,943 (GRCm39) T274K probably damaging Het
Snap91 G A 9: 86,680,611 (GRCm39) T424M probably benign Het
Sox13 T A 1: 133,320,873 (GRCm39) T46S probably benign Het
Syne1 G A 10: 5,002,691 (GRCm39) Q8075* probably null Het
Trio T C 15: 27,881,406 (GRCm39) E555G probably damaging Het
Upf3b T C X: 36,360,586 (GRCm39) E298G probably damaging Het
Vmn1r158 A G 7: 22,490,204 (GRCm39) S2P probably benign Het
Vmn1r6 T A 6: 56,979,626 (GRCm39) L74H probably damaging Het
Vwa2 T C 19: 56,890,066 (GRCm39) S224P probably damaging Het
Wbp1l T A 19: 46,632,808 (GRCm39) V36E probably damaging Het
Zfp367 A G 13: 64,283,253 (GRCm39) S300P probably damaging Het
Other mutations in Il1rapl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00466:Il1rapl2 APN X 137,735,292 (GRCm39) missense probably damaging 1.00
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 2013-06-21