Incidental Mutation 'IGL02547:Il3ra'
ID297856
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il3ra
Ensembl Gene ENSMUSG00000068758
Gene Nameinterleukin 3 receptor, alpha chain
SynonymsIL-3 receptor alpha chain, CD123, SUT-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.031) question?
Stock #IGL02547
Quality Score
Status
Chromosome14
Chromosomal Location14346275-14356011 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 14351970 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 247 (T247S)
Ref Sequence ENSEMBL: ENSMUSP00000153086 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090591] [ENSMUST00000223589] [ENSMUST00000224163] [ENSMUST00000224877] [ENSMUST00000225775]
Predicted Effect probably benign
Transcript: ENSMUST00000090591
AA Change: T340S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000088079
Gene: ENSMUSG00000068758
AA Change: T340S

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:IL6Ra-bind 119 233 6.1e-33 PFAM
transmembrane domain 333 355 N/A INTRINSIC
low complexity region 359 374 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000223589
Predicted Effect probably benign
Transcript: ENSMUST00000224163
AA Change: T340S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224415
Predicted Effect probably benign
Transcript: ENSMUST00000224877
AA Change: T247S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224991
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225560
Predicted Effect probably benign
Transcript: ENSMUST00000225775
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 an interleukin 3 specific subunit of a heterodimeric cytokine receptor. The receptor is comprised of a ligand specific alpha subunit and a signal transducing beta subunit shared by the receptors for interleukin 3 (IL3), colony stimulating factor 2 (CSF2/GM-CSF), and interleukin 5 (IL5). The binding of this protein to IL3 depends on the beta subunit. The beta subunit is activated by the ligand binding, and is required for the biological activities of IL3. This gene and the gene encoding the colony stimulating factor 2 receptor alpha chain (CSF2RA) form a cytokine receptor gene cluster in a X-Y pseudoautosomal region on chromosomes X or Y. Alternatively spliced transcript variants encoding distinct isoforms have been found. [provided by RefSeq, Jun 2012]
PHENOTYPE: A number of distantly related inbred mouse strains carrying an identical spontaneous deletion at the branch point in intron 7 exhibit a reduced capacity of bone marrow cells to form colonies in response to interleukin-3 in CFU-GM assays. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430403G16Rik C T 5: 109,678,762 probably null Het
Akap6 T A 12: 53,140,696 L1631H probably damaging Het
Atf7ip T A 6: 136,603,276 probably benign Het
Atp5o A T 16: 91,928,961 Y48N probably damaging Het
Birc6 T G 17: 74,579,645 M656R probably benign Het
Camkk1 A G 11: 73,038,433 R455G probably benign Het
Casr A T 16: 36,515,674 M91K probably benign Het
Ccdc28a A T 10: 18,214,146 V124D possibly damaging Het
Ccnh T C 13: 85,202,504 probably benign Het
Cdc37 G T 9: 21,139,966 probably benign Het
Cdon A G 9: 35,478,654 D868G probably damaging Het
Cyp4f15 A G 17: 32,700,255 R351G probably benign Het
Dclk3 T C 9: 111,469,023 I545T probably damaging Het
Dock4 A G 12: 40,737,479 M798V probably benign Het
Gas7 A T 11: 67,665,435 Q200L probably damaging Het
Gm15448 T C 7: 3,821,661 D573G probably damaging Het
Gm4758 A T 16: 36,312,526 probably benign Het
Gm6614 A T 6: 141,990,390 L323Q probably damaging Het
Ica1 T C 6: 8,670,691 probably null Het
Idh3a T A 9: 54,592,395 V31D probably benign Het
Itgb7 A G 15: 102,218,510 C497R probably damaging Het
Itm2c T C 1: 85,906,461 Y166H probably damaging Het
Mphosph8 A G 14: 56,672,484 D98G probably damaging Het
Mstn A T 1: 53,064,125 I207F probably benign Het
Muc15 A G 2: 110,731,305 R29G probably damaging Het
Neb T A 2: 52,188,730 T142S probably damaging Het
Nipbl G A 15: 8,351,598 T570I probably benign Het
Nr5a2 T A 1: 136,940,927 M196L probably benign Het
Nrp1 C A 8: 128,493,031 F643L probably benign Het
Olfr1098 A G 2: 86,923,028 F168S probably damaging Het
Olfr1441 A T 19: 12,422,311 M1L probably benign Het
Olfr600 A G 7: 103,346,244 F228S probably damaging Het
Olfr625-ps1 T C 7: 103,682,766 I16T probably benign Het
Osbpl9 C T 4: 109,068,483 W446* probably null Het
Pced1a T C 2: 130,419,707 D342G possibly damaging Het
Prkcd C A 14: 30,599,469 W555L probably damaging Het
Prpf31 T C 7: 3,630,899 S78P probably benign Het
Psg27 T C 7: 18,560,628 T285A probably benign Het
Retreg3 A T 11: 101,106,378 L92* probably null Het
Rmdn1 A G 4: 19,605,501 K282E possibly damaging Het
Sept8 G T 11: 53,537,265 R302L probably damaging Het
Serpina3a A G 12: 104,116,543 I192V probably damaging Het
Sgce T C 6: 4,711,301 probably benign Het
Spats1 A T 17: 45,474,817 probably benign Het
Tcerg1l C T 7: 138,248,371 probably null Het
Ttn A G 2: 76,729,386 V21230A probably damaging Het
Ubxn11 A C 4: 134,109,584 D41A possibly damaging Het
Vps13c T G 9: 67,908,019 I979S possibly damaging Het
Zc3h6 T A 2: 129,015,611 H683Q probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zfp629 T C 7: 127,611,674 probably null Het
Other mutations in Il3ra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02454:Il3ra APN 14 14351113 missense probably benign 0.36
IGL02550:Il3ra APN 14 14348055 missense probably benign 0.03
IGL02632:Il3ra APN 14 14350807 critical splice donor site probably null
IGL02737:Il3ra APN 14 14350760 missense probably benign 0.02
R0165:Il3ra UTSW 14 14350967 missense probably benign 0.01
R0597:Il3ra UTSW 14 14351166 critical splice donor site probably null
R1109:Il3ra UTSW 14 14349317 missense probably damaging 1.00
R2211:Il3ra UTSW 14 14355029 missense probably benign 0.03
R2409:Il3ra UTSW 14 14349377 splice site probably null
R4258:Il3ra UTSW 14 14347961 missense probably damaging 1.00
R4896:Il3ra UTSW 14 14355381 missense probably benign 0.07
R4994:Il3ra UTSW 14 14351080 missense probably benign 0.19
R5004:Il3ra UTSW 14 14355381 missense probably benign 0.07
R5935:Il3ra UTSW 14 14350799 missense probably damaging 0.99
R6274:Il3ra UTSW 14 14350180 missense probably benign 0.19
R6350:Il3ra UTSW 14 14348903 missense probably benign 0.07
R6403:Il3ra UTSW 14 14347137 missense probably damaging 0.98
R6845:Il3ra UTSW 14 14346517 splice site probably null
Z1088:Il3ra UTSW 14 14351129 missense probably benign 0.06
Posted On2015-04-16