Incidental Mutation 'IGL03267:Il9r'
ID 415110
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il9r
Ensembl Gene ENSMUSG00000020279
Gene Name interleukin 9 receptor
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03267
Quality Score
Status
Chromosome 11
Chromosomal Location 32187541-32200279 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 32191778 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 320 (H320L)
Ref Sequence ENSEMBL: ENSMUSP00000118204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020518] [ENSMUST00000128311] [ENSMUST00000142396] [ENSMUST00000145401]
AlphaFold Q01114
Predicted Effect probably benign
Transcript: ENSMUST00000020518
SMART Domains Protein: ENSMUSP00000020518
Gene: ENSMUSG00000020279

DomainStartEndE-ValueType
SCOP:d1gh7a2 47 98 1e-3 SMART
Blast:FN3 49 95 4e-22 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000128311
AA Change: H321L

PolyPhen 2 Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000119557
Gene: ENSMUSG00000020279
AA Change: H321L

DomainStartEndE-ValueType
PDB:4GS7|B 48 254 5e-6 PDB
SCOP:d1gh7a2 143 257 4e-11 SMART
Blast:FN3 146 229 5e-43 BLAST
transmembrane domain 270 292 N/A INTRINSIC
low complexity region 343 352 N/A INTRINSIC
low complexity region 420 431 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131979
Predicted Effect probably benign
Transcript: ENSMUST00000142396
AA Change: H326L

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000119185
Gene: ENSMUSG00000020279
AA Change: H326L

DomainStartEndE-ValueType
PDB:4GS7|B 53 259 5e-6 PDB
SCOP:d1gh7a2 148 262 3e-11 SMART
Blast:FN3 151 234 5e-43 BLAST
transmembrane domain 275 297 N/A INTRINSIC
low complexity region 348 357 N/A INTRINSIC
low complexity region 425 436 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000145401
AA Change: H320L

PolyPhen 2 Score 0.756 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000118204
Gene: ENSMUSG00000020279
AA Change: H320L

DomainStartEndE-ValueType
Blast:FN3 146 228 3e-42 BLAST
SCOP:d1egja_ 147 256 1e-10 SMART
transmembrane domain 269 291 N/A INTRINSIC
low complexity region 342 351 N/A INTRINSIC
low complexity region 419 430 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 cytokine receptor that specifically mediates the biological effects of interleukin 9 (IL9). The functional IL9 receptor complex requires this protein as well as the interleukin 2 receptor, gamma (IL2RG), a common gamma subunit shared by the receptors of many different cytokines. The ligand binding of this receptor leads to the activation of various JAK kinases and STAT proteins, which connect to different biologic responses. This gene is located at the pseudoautosomal regions of X and Y chromosomes. Genetic studies suggested an association of this gene with the development of asthma. Multiple pseudogenes on chromosome 9, 10, 16, and 18 have been described. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are more susceptible to experimental autoimmune encephalomyelitis, a defect partially attributable to defective regulatory T cell function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 C T 5: 121,637,349 R430Q probably benign Het
Arfgef3 T A 10: 18,591,882 I1857F probably damaging Het
Baat T A 4: 49,490,050 M345L probably benign Het
Babam1 T G 8: 71,403,064 probably null Het
Bbs7 A G 3: 36,573,505 F711S probably damaging Het
Btrc A G 19: 45,518,823 E458G probably damaging Het
Car6 T C 4: 150,196,046 probably benign Het
Celsr3 T C 9: 108,836,525 probably benign Het
Csn2 A G 5: 87,698,071 V3A possibly damaging Het
Ddc T C 11: 11,876,303 Y86C probably damaging Het
Dennd1b A T 1: 139,062,861 R188* probably null Het
Dnah1 C A 14: 31,286,588 A2046S probably benign Het
Eif2b4 A T 5: 31,192,659 S20T possibly damaging Het
Etl4 T A 2: 20,785,182 C916* probably null Het
Fam78a T C 2: 32,069,667 I144V probably benign Het
Fcho1 A G 8: 71,712,299 probably benign Het
Gm4981 T C 10: 58,235,787 T202A probably damaging Het
Gm597 G A 1: 28,777,121 T610I probably damaging Het
Kntc1 C T 5: 123,758,480 T135M probably damaging Het
Lca5l T A 16: 96,159,783 Q498L probably benign Het
Map4k3 T C 17: 80,664,028 H70R probably damaging Het
Mrps26 A G 2: 130,564,936 probably null Het
Olfr1057 A T 2: 86,374,634 Y259* probably null Het
Olfr352 G T 2: 36,870,501 A312S probably benign Het
Olfr729 A G 14: 50,148,847 V9A probably damaging Het
Pik3cg C A 12: 32,205,308 G227C possibly damaging Het
Ptprn2 C T 12: 116,876,344 Q496* probably null Het
Rif1 T G 2: 52,076,988 N96K possibly damaging Het
Rreb1 A C 13: 37,932,193 D1176A probably benign Het
Slc22a30 A G 19: 8,337,958 I436T probably benign Het
Slc51a G A 16: 32,478,750 R110C probably damaging Het
Stab1 A G 14: 31,142,729 C1950R probably damaging Het
Tns2 T C 15: 102,105,378 probably null Het
Ttf2 G A 3: 100,944,804 R1009* probably null Het
Wfdc16 A G 2: 164,638,542 V11A possibly damaging Het
Zfp367 A G 13: 64,144,283 probably benign Het
Zfp420 G A 7: 29,875,483 R376H probably damaging Het
Other mutations in Il9r
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4305001:Il9r UTSW 11 32194734 missense probably benign
PIT4651001:Il9r UTSW 11 32191798 missense probably benign 0.02
R1691:Il9r UTSW 11 32191829 missense possibly damaging 0.75
R1695:Il9r UTSW 11 32193227 missense probably benign 0.31
R4816:Il9r UTSW 11 32192654 missense possibly damaging 0.93
R5381:Il9r UTSW 11 32190715 missense probably benign 0.14
R5701:Il9r UTSW 11 32193263 missense probably benign 0.41
R6015:Il9r UTSW 11 32192674 missense probably benign 0.14
R6445:Il9r UTSW 11 32191000 missense possibly damaging 0.92
R6584:Il9r UTSW 11 32191782 missense probably benign 0.01
R6976:Il9r UTSW 11 32193177 nonsense probably null
R7171:Il9r UTSW 11 32192671 missense probably benign 0.15
R7326:Il9r UTSW 11 32194389 missense possibly damaging 0.78
R7948:Il9r UTSW 11 32194486 missense probably damaging 1.00
R9679:Il9r UTSW 11 32190853 missense probably benign 0.05
X0028:Il9r UTSW 11 32190793 missense probably damaging 0.99
Posted On 2016-08-02