Incidental Mutation 'IGL03223:Il1rapl1'
ID 413701
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il1rapl1
Ensembl Gene ENSMUSG00000052372
Gene Name interleukin 1 receptor accessory protein-like 1
Synonyms MRX34, IL1R8, IL1RAPL, 6330532G10Rik, TIGIRR-2, OPHN4
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.421) question?
Stock # IGL03223
Quality Score
Status
Chromosome X
Chromosomal Location 85784476-87159251 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 86344341 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Glycine at position 185 (C185G)
Ref Sequence ENSEMBL: ENSMUSP00000109597 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078875] [ENSMUST00000113964] [ENSMUST00000113966]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000078875
AA Change: C185G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000077915
Gene: ENSMUSG00000052372
AA Change: C185G

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IG 38 136 3.68e-2 SMART
IG 149 234 1.63e-3 SMART
IGc2 258 341 3.59e-5 SMART
transmembrane domain 356 378 N/A INTRINSIC
TIR 404 562 9.1e-17 SMART
low complexity region 588 603 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113964
AA Change: C185G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109597
Gene: ENSMUSG00000052372
AA Change: C185G

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IG 38 136 3.68e-2 SMART
IG 149 234 1.63e-3 SMART
IGc2 258 341 3.59e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113966
AA Change: C185G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109599
Gene: ENSMUSG00000052372
AA Change: C185G

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IG 38 136 3.68e-2 SMART
IG 149 234 1.63e-3 SMART
IGc2 258 341 3.59e-5 SMART
transmembrane domain 356 378 N/A INTRINSIC
TIR 404 562 9.1e-17 SMART
low complexity region 588 603 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 and is similar to the interleukin 1 accessory proteins. It is most closely related to interleukin 1 receptor accessory protein-like 2 (IL1RAPL2). This gene and IL1RAPL2 are located at a region on chromosome X that is associated with X-linked non-syndromic mental retardation. Deletions and mutations in this gene were found in patients with mental retardation. This gene is expressed at a high level in post-natal brain structures involved in the hippocampal memory system, which suggests a specialized role in the physiological processes underlying memory and learning abilities. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit premature giant inhibitory postsynaptic currents and parallel fiber-mediated recruitment of molecular layer interneurons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh3b1 T A 19: 3,965,329 (GRCm39) H394L probably damaging Het
B430306N03Rik G A 17: 48,623,896 (GRCm39) V66I probably damaging Het
Btbd10 T C 7: 112,931,877 (GRCm39) N175S probably damaging Het
Dock4 C A 12: 40,867,593 (GRCm39) Q1390K probably damaging Het
Eea1 A C 10: 95,875,473 (GRCm39) E1248A probably damaging Het
Farp2 T A 1: 93,545,324 (GRCm39) Y827* probably null Het
Gcc2 A G 10: 58,134,556 (GRCm39) Y1510C probably damaging Het
Igfbp7 A C 5: 77,497,318 (GRCm39) probably benign Het
Itga7 A G 10: 128,784,680 (GRCm39) probably benign Het
Itsn1 T C 16: 91,702,194 (GRCm39) V12A probably benign Het
Lrrc4 A T 6: 28,831,469 (GRCm39) C49S probably damaging Het
Lrrc49 T A 9: 60,595,128 (GRCm39) K5N possibly damaging Het
Myh13 T C 11: 67,241,068 (GRCm39) I815T probably benign Het
Myh8 T C 11: 67,174,644 (GRCm39) I253T probably damaging Het
Myo19 A G 11: 84,801,297 (GRCm39) T948A possibly damaging Het
Nhs T A X: 160,624,902 (GRCm39) I837F probably damaging Het
Or5b113 G T 19: 13,342,645 (GRCm39) V218L probably benign Het
Or5b98 T C 19: 12,931,268 (GRCm39) V105A probably benign Het
Pfpl A T 19: 12,407,438 (GRCm39) Q563L probably damaging Het
Swt1 A G 1: 151,255,170 (GRCm39) M809T possibly damaging Het
Tbc1d13 T A 2: 30,038,648 (GRCm39) I311N probably damaging Het
Tgs1 T C 4: 3,591,322 (GRCm39) probably benign Het
Usf3 C T 16: 44,036,813 (GRCm39) T431M probably damaging Het
Vdac1 G A 11: 52,267,482 (GRCm39) R93H probably benign Het
Vmn1r234 G A 17: 21,449,653 (GRCm39) G189D probably damaging Het
Zfp14 A G 7: 29,737,858 (GRCm39) Y376H probably damaging Het
Zfp472 T C 17: 33,196,248 (GRCm39) C108R probably benign Het
Zfp658 A G 7: 43,216,735 (GRCm39) E35G possibly damaging Het
Other mutations in Il1rapl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03167:Il1rapl1 APN X 85,790,867 (GRCm39) missense possibly damaging 0.62
R1411:Il1rapl1 UTSW X 85,790,904 (GRCm39) missense possibly damaging 0.88
R1501:Il1rapl1 UTSW X 86,348,469 (GRCm39) nonsense probably null
R4299:Il1rapl1 UTSW X 86,344,313 (GRCm39) missense probably damaging 1.00
Z1177:Il1rapl1 UTSW X 85,792,070 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02