Incidental Mutation 'IGL02547:Il3ra'
ID 297856
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il3ra
Ensembl Gene ENSMUSG00000068758
Gene Name interleukin 3 receptor, alpha chain
Synonyms CD123, SUT-1, IL-3 receptor alpha chain
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # IGL02547
Quality Score
Status
Chromosome 14
Chromosomal Location 8114270-8123851 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 14351970 bp (GRCm38)
Zygosity Heterozygous
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]
AlphaFold P26952
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
Akap6 T A 12: 53,187,479 (GRCm39) L1631H probably damaging Het
Atf7ip T A 6: 136,580,274 (GRCm39) probably benign Het
Atp5po A T 16: 91,725,849 (GRCm39) Y48N probably damaging Het
Birc6 T G 17: 74,886,640 (GRCm39) M656R probably benign Het
Camkk1 A G 11: 72,929,259 (GRCm39) R455G probably benign Het
Casr A T 16: 36,336,036 (GRCm39) M91K probably benign Het
Ccdc28a A T 10: 18,089,894 (GRCm39) V124D possibly damaging Het
Ccnh T C 13: 85,350,623 (GRCm39) probably benign Het
Cdc37 G T 9: 21,051,262 (GRCm39) probably benign Het
Cdon A G 9: 35,389,950 (GRCm39) D868G probably damaging Het
Cstdc3 A T 16: 36,132,888 (GRCm39) probably benign Het
Cyp4f15 A G 17: 32,919,229 (GRCm39) R351G probably benign Het
Dclk3 T C 9: 111,298,091 (GRCm39) I545T probably damaging Het
Dock4 A G 12: 40,787,478 (GRCm39) M798V probably benign Het
Gas7 A T 11: 67,556,261 (GRCm39) Q200L probably damaging Het
Ica1 T C 6: 8,670,691 (GRCm39) probably null Het
Idh3a T A 9: 54,499,679 (GRCm39) V31D probably benign Het
Itgb7 A G 15: 102,126,945 (GRCm39) C497R probably damaging Het
Itm2c T C 1: 85,834,182 (GRCm39) Y166H probably damaging Het
Mphosph8 A G 14: 56,909,941 (GRCm39) D98G probably damaging Het
Mstn A T 1: 53,103,284 (GRCm39) I207F probably benign Het
Muc15 A G 2: 110,561,650 (GRCm39) R29G probably damaging Het
Neb T A 2: 52,078,742 (GRCm39) T142S probably damaging Het
Nipbl G A 15: 8,381,082 (GRCm39) T570I probably benign Het
Nr5a2 T A 1: 136,868,665 (GRCm39) M196L probably benign Het
Nrp1 C A 8: 129,219,512 (GRCm39) F643L probably benign Het
Or52ad1 A G 7: 102,995,451 (GRCm39) F228S probably damaging Het
Or52z15 T C 7: 103,331,973 (GRCm39) I16T probably benign Het
Or5a3 A T 19: 12,399,675 (GRCm39) M1L probably benign Het
Or8h8 A G 2: 86,753,372 (GRCm39) F168S probably damaging Het
Osbpl9 C T 4: 108,925,680 (GRCm39) W446* probably null Het
Pced1a T C 2: 130,261,627 (GRCm39) D342G possibly damaging Het
Pira13 T C 7: 3,824,660 (GRCm39) D573G probably damaging Het
Prkcd C A 14: 30,321,426 (GRCm39) W555L probably damaging Het
Prpf31 T C 7: 3,633,898 (GRCm39) S78P probably benign Het
Psg27 T C 7: 18,294,553 (GRCm39) T285A probably benign Het
Retreg3 A T 11: 100,997,204 (GRCm39) L92* probably null Het
Rmdn1 A G 4: 19,605,501 (GRCm39) K282E possibly damaging Het
Septin8 G T 11: 53,428,092 (GRCm39) R302L probably damaging Het
Serpina3a A G 12: 104,082,802 (GRCm39) I192V probably damaging Het
Sgce T C 6: 4,711,301 (GRCm39) probably benign Het
Slco1a8 A T 6: 141,936,116 (GRCm39) L323Q probably damaging Het
Spats1 A T 17: 45,785,743 (GRCm39) probably benign Het
Tcerg1l C T 7: 137,850,100 (GRCm39) probably null Het
Ttn A G 2: 76,559,730 (GRCm39) V21230A probably damaging Het
Ubxn11 A C 4: 133,836,895 (GRCm39) D41A possibly damaging Het
Vps13c T G 9: 67,815,301 (GRCm39) I979S possibly damaging Het
Zc3h6 T A 2: 128,857,531 (GRCm39) H683Q probably benign Het
Zfp1007 C T 5: 109,826,628 (GRCm39) probably null Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Zfp629 T C 7: 127,210,846 (GRCm39) probably null Het
Other mutations in Il3ra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02454:Il3ra APN 14 14,351,113 (GRCm38) missense probably benign 0.36
IGL02550:Il3ra APN 14 14,348,055 (GRCm38) missense probably benign 0.03
IGL02632:Il3ra APN 14 14,350,807 (GRCm38) critical splice donor site probably null
IGL02737:Il3ra APN 14 14,350,760 (GRCm38) missense probably benign 0.02
R0165:Il3ra UTSW 14 14,350,967 (GRCm38) missense probably benign 0.01
R0597:Il3ra UTSW 14 14,351,166 (GRCm38) critical splice donor site probably null
R1109:Il3ra UTSW 14 14,349,317 (GRCm38) missense probably damaging 1.00
R2211:Il3ra UTSW 14 14,355,029 (GRCm38) missense probably benign 0.03
R2409:Il3ra UTSW 14 14,349,377 (GRCm38) splice site probably null
R4258:Il3ra UTSW 14 14,347,961 (GRCm38) missense probably damaging 1.00
R4896:Il3ra UTSW 14 14,355,381 (GRCm38) missense probably benign 0.07
R4994:Il3ra UTSW 14 14,351,080 (GRCm38) missense probably benign 0.19
R5004:Il3ra UTSW 14 14,355,381 (GRCm38) missense probably benign 0.07
R5935:Il3ra UTSW 14 14,350,799 (GRCm38) missense probably damaging 0.99
R6274:Il3ra UTSW 14 14,350,180 (GRCm38) missense probably benign 0.19
R6350:Il3ra UTSW 14 14,348,903 (GRCm38) missense probably benign 0.07
R6403:Il3ra UTSW 14 14,347,137 (GRCm38) missense probably damaging 0.98
R6845:Il3ra UTSW 14 14,346,517 (GRCm38) splice site probably null
R7417:Il3ra UTSW 14 14,349,345 (GRCm38) missense probably benign 0.08
R7432:Il3ra UTSW 14 14,350,691 (GRCm38) missense possibly damaging 0.64
R7450:Il3ra UTSW 14 14,351,090 (GRCm38) missense probably benign 0.25
R7917:Il3ra UTSW 14 14,350,773 (GRCm38) missense possibly damaging 0.66
R8048:Il3ra UTSW 14 14,348,903 (GRCm38) missense probably benign 0.07
Z1088:Il3ra UTSW 14 14,351,129 (GRCm38) missense probably benign 0.06
Posted On 2015-04-16