Incidental Mutation 'IGL03247:Il1rapl2'
ID414427
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il1rapl2
Ensembl Gene ENSMUSG00000059203
Gene Nameinterleukin 1 receptor accessory protein-like 2
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL03247
Quality Score
Status
ChromosomeX
Chromosomal Location137570608-138846946 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 138789680 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Aspartic acid at position 298 (G298D)
Ref Sequence ENSEMBL: ENSMUSP00000108686 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075471] [ENSMUST00000113063]
Predicted Effect probably damaging
Transcript: ENSMUST00000075471
AA Change: G298D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000074917
Gene: ENSMUSG00000059203
AA Change: G298D

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: G298D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108686
Gene: ENSMUSG00000059203
AA Change: G298D

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 T A 14: 55,770,096 I926F probably damaging Het
Agap3 A G 5: 24,487,822 N418D probably damaging Het
Alms1 T C 6: 85,678,597 V3375A possibly damaging Het
Ankrd6 T A 4: 32,860,441 M1L possibly damaging Het
Aox4 A G 1: 58,264,367 D1188G probably damaging Het
Car2 T A 3: 14,887,939 L47Q probably damaging Het
Catsper2 A G 2: 121,410,200 V107A probably benign Het
Catsperg2 T C 7: 29,717,048 N313S possibly damaging Het
Dolk T C 2: 30,285,511 Y174C probably damaging Het
Erfe A G 1: 91,370,425 E219G probably benign Het
Ern2 T C 7: 122,171,671 E733G probably benign Het
Fam159a A T 4: 108,367,901 C155S probably benign Het
Fam228a A G 12: 4,737,734 F13S probably damaging Het
Fancd2 T C 6: 113,568,208 V829A probably benign Het
Gid4 C A 11: 60,432,343 T87N probably benign Het
H2-Ob A G 17: 34,243,492 K152R probably benign Het
Ifna2 T A 4: 88,683,377 T135S probably benign Het
Mbd1 T A 18: 74,274,754 L174* probably null Het
Mga T A 2: 119,935,513 D1341E possibly damaging Het
Mmp12 T A 9: 7,348,631 M54K probably benign Het
Mphosph8 T A 14: 56,678,820 probably null Het
Mrps23 A G 11: 88,210,096 probably benign Het
Necab1 C T 4: 14,960,046 M300I probably benign Het
Nid2 G A 14: 19,779,620 D660N probably damaging Het
Olfr693 T A 7: 106,677,547 H313L probably benign Het
Olfr824 T A 10: 130,126,715 E114V probably damaging Het
P2ry13 A T 3: 59,209,592 V255D possibly damaging Het
Peak1 C T 9: 56,257,930 E905K probably damaging Het
Picalm C A 7: 90,194,291 Q550K probably benign Het
Rnf103 T A 6: 71,510,305 V640E possibly damaging Het
Sec31b T G 19: 44,518,940 K817N possibly damaging Het
Skint2 C A 4: 112,626,026 H209Q probably benign Het
Skint5 T C 4: 113,940,808 S193G probably damaging Het
Tacr3 A G 3: 134,930,091 probably benign Het
Tek A G 4: 94,865,443 M1041V possibly damaging Het
Tm4sf1 A G 3: 57,293,015 S89P possibly damaging Het
Tusc3 T A 8: 39,130,777 N299K possibly damaging Het
Washc4 T C 10: 83,564,463 S418P 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
IGL02500:Il1rapl2 APN X 138846503 missense possibly damaging 0.86
Posted On2016-08-02