Incidental Mutation 'R4299:Il1rapl1'
ID 323525
Institutional Source Beutler Lab
Gene Symbol Il1rapl1
Ensembl Gene ENSMUSG00000052372
Gene Name interleukin 1 receptor accessory protein-like 1
Synonyms MRX34, IL1R8, IL1RAPL, 6330532G10Rik, TIGIRR-2, OPHN4
MMRRC Submission 041087-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.421) question?
Stock # R4299 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 85784476-87159251 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 86344313 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 194 (I194N)
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: I194N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000077915
Gene: ENSMUSG00000052372
AA Change: I194N

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: I194N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109597
Gene: ENSMUSG00000052372
AA Change: I194N

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: I194N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109599
Gene: ENSMUSG00000052372
AA Change: I194N

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
Meta Mutation Damage Score 0.1963 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 97% (76/78)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 T C 8: 87,258,154 (GRCm39) probably null Het
Akna A T 4: 63,316,269 (GRCm39) D31E possibly damaging Het
Apbb2 A T 5: 66,470,721 (GRCm39) H528Q probably damaging Het
Atp6v1g3 C A 1: 138,211,462 (GRCm39) Y47* probably null Het
AW551984 T C 9: 39,504,275 (GRCm39) T564A probably benign Het
C4b T C 17: 34,950,118 (GRCm39) D1384G possibly damaging Het
Cbfa2t2 G A 2: 154,365,848 (GRCm39) V353I probably damaging Het
Ccdc121 A G 5: 31,644,870 (GRCm39) R208G possibly damaging Het
Cdh20 T C 1: 109,988,731 (GRCm39) I211T probably damaging Het
Cep170b T C 12: 112,705,739 (GRCm39) S1166P probably damaging Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Crygs G A 16: 22,624,161 (GRCm39) Q149* probably null Het
Cyp2c70 T C 19: 40,172,372 (GRCm39) Q90R probably benign Het
Cyp3a41b T C 5: 145,510,487 (GRCm39) Y129C possibly damaging Het
Dnah10 A G 5: 124,896,989 (GRCm39) T3645A probably damaging Het
Dnai3 C T 3: 145,774,561 (GRCm39) D429N probably damaging Het
Dolk A T 2: 30,175,200 (GRCm39) W282R probably damaging Het
Dsg2 T A 18: 20,729,008 (GRCm39) probably null Het
Dysf A G 6: 84,045,059 (GRCm39) T297A possibly damaging Het
Flt1 G T 5: 147,620,717 (GRCm39) D142E probably benign Het
Frmd4a C A 2: 4,337,882 (GRCm39) N29K probably benign Het
Fxyd7 A T 7: 30,744,407 (GRCm39) M36K probably benign Het
Gabbr1 C T 17: 37,366,792 (GRCm39) R178* probably null Het
Gnal C G 18: 67,221,654 (GRCm39) P19R unknown Het
Gprc5b G A 7: 118,583,437 (GRCm39) A144V possibly damaging Het
Kics2 C A 10: 121,581,351 (GRCm39) H117Q probably benign Het
Klhl24 T C 16: 19,925,754 (GRCm39) M94T probably damaging Het
Kmt2e T A 5: 23,669,912 (GRCm39) I133N probably damaging Het
Macf1 A G 4: 123,293,199 (GRCm39) I5381T probably damaging Het
Madd A G 2: 91,000,148 (GRCm39) L197P probably damaging Het
Mapkapk3 G A 9: 107,134,648 (GRCm39) T296M probably damaging Het
Micall2 T C 5: 139,695,226 (GRCm39) probably benign Het
Myh9 T C 15: 77,654,164 (GRCm39) T1214A probably benign Het
Ncapd3 A G 9: 26,963,623 (GRCm39) N492S probably benign Het
Neurl4 A C 11: 69,799,887 (GRCm39) D1055A probably damaging Het
Nrbp1 T C 5: 31,407,943 (GRCm39) probably null Het
Or13a20 T C 7: 140,232,156 (GRCm39) V88A probably benign Het
Or1e21 A T 11: 73,344,827 (GRCm39) D70E probably damaging Het
Or52z1 T A 7: 103,437,202 (GRCm39) H94L probably benign Het
Or5j3 A T 2: 86,128,585 (GRCm39) I142F possibly damaging Het
Or6k8-ps1 T A 1: 173,979,878 (GRCm39) Y265* probably null Het
Or8b42 T G 9: 38,342,108 (GRCm39) Y177D probably damaging Het
Or8d1b T A 9: 38,887,055 (GRCm39) F28I probably damaging Het
Or8g19 T C 9: 39,056,295 (GRCm39) S300P probably benign Het
Patj C A 4: 98,565,558 (GRCm39) N1090K possibly damaging Het
Pde8a A G 7: 80,977,783 (GRCm39) D692G probably benign Het
Ppa2 G T 3: 133,073,603 (GRCm39) K220N probably damaging Het
Pramel32 T C 4: 88,546,419 (GRCm39) K137E probably damaging Het
Ptgr3 A T 18: 84,112,626 (GRCm39) I101F possibly damaging Het
Rad54b A G 4: 11,597,865 (GRCm39) H250R probably damaging Het
Reln A C 5: 22,125,485 (GRCm39) C2733G probably damaging Het
Rgs14 A G 13: 55,531,566 (GRCm39) T497A probably damaging Het
Rpl13-ps3 T A 14: 59,130,972 (GRCm39) noncoding transcript Het
Scn11a T G 9: 119,594,572 (GRCm39) I1274L probably damaging Het
Sco1 A T 11: 66,946,626 (GRCm39) H133L possibly damaging Het
Slc4a8 T C 15: 100,694,521 (GRCm39) probably null Het
Smc2 C T 4: 52,440,238 (GRCm39) probably benign Het
Spata18 T C 5: 73,824,245 (GRCm39) I156T probably benign Het
St3gal2 T C 8: 111,688,991 (GRCm39) M177T probably benign Het
Stt3a A G 9: 36,674,640 (GRCm39) F48L probably damaging Het
Syvn1 C T 19: 6,099,951 (GRCm39) probably benign Het
Szt2 A G 4: 118,222,603 (GRCm39) probably benign Het
Telo2 A T 17: 25,334,230 (GRCm39) S6T possibly damaging Het
Tnfrsf11b T C 15: 54,115,491 (GRCm39) M369V probably benign Het
Tnfrsf13b C G 11: 61,031,643 (GRCm39) probably null Het
Vmn1r234 A T 17: 21,449,283 (GRCm39) M66L probably benign Het
Vmn2r12 C A 5: 109,239,830 (GRCm39) M244I probably benign Het
Wdfy2 T A 14: 63,162,589 (GRCm39) L97* probably null Het
Xrcc5 T C 1: 72,433,879 (GRCm39) *733Q probably null Het
Zfp1004 G A 2: 150,032,653 (GRCm39) D17N probably damaging Het
Zfp516 G A 18: 83,005,622 (GRCm39) G842D possibly damaging Het
Zwilch A G 9: 64,062,444 (GRCm39) probably null Het
Other mutations in Il1rapl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03167:Il1rapl1 APN X 85,790,867 (GRCm39) missense possibly damaging 0.62
IGL03223:Il1rapl1 APN X 86,344,341 (GRCm39) missense probably damaging 1.00
R1411:Il1rapl1 UTSW X 85,790,904 (GRCm39) missense possibly damaging 0.88
R1501:Il1rapl1 UTSW X 86,348,469 (GRCm39) nonsense probably null
Z1177:Il1rapl1 UTSW X 85,792,070 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAAAGCCCTGAGACCTTCTC -3'
(R):5'- AGCACCATTACAAGTGAATGTGAC -3'

Sequencing Primer
(F):5'- GAGACCTTCTCAAAAGACAGTTTC -3'
(R):5'- GTGCCTATGATCTCACAATGAGGC -3'
Posted On 2015-06-20