Incidental Mutation 'R6403:Il3ra'
ID 516231
Institutional Source Beutler Lab
Gene Symbol Il3ra
Ensembl Gene ENSMUSG00000068758
Gene Name interleukin 3 receptor, alpha chain
Synonyms CD123, SUT-1, IL-3 receptor alpha chain
MMRRC Submission 044382-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R6403 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 8114270-8123851 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 14347137 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 3 (A3S)
Ref Sequence ENSEMBL: ENSMUSP00000153664 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090591] [ENSMUST00000223589] [ENSMUST00000224163] [ENSMUST00000224877] [ENSMUST00000225775]
AlphaFold P26952
Predicted Effect possibly damaging
Transcript: ENSMUST00000090591
AA Change: A3S

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000088079
Gene: ENSMUSG00000068758
AA Change: A3S

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 possibly damaging
Transcript: ENSMUST00000223589
AA Change: A3S

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000224163
AA Change: A3S

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224415
Predicted Effect possibly damaging
Transcript: ENSMUST00000224877
AA Change: A3S

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224991
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225560
Predicted Effect probably damaging
Transcript: ENSMUST00000225775
AA Change: A3S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 A G 8: 111,768,881 (GRCm39) D227G possibly damaging Het
Aox1 A G 1: 58,107,594 (GRCm39) I623V probably damaging Het
Camsap2 G A 1: 136,208,538 (GRCm39) R317* probably null Het
Carmil1 G A 13: 24,265,950 (GRCm39) R271C probably damaging Het
Ces2b T A 8: 105,562,901 (GRCm39) L323* probably null Het
Copb1 T A 7: 113,837,686 (GRCm39) I286F probably damaging Het
Dnajb11 T A 16: 22,689,691 (GRCm39) V285D probably damaging Het
Dok5 G T 2: 170,671,820 (GRCm39) A79S probably damaging Het
Enpp2 T C 15: 54,727,160 (GRCm39) N557S probably damaging Het
Hexa G A 9: 59,464,644 (GRCm39) R178H probably damaging Het
Iars1 T C 13: 49,840,971 (GRCm39) S35P probably damaging Het
Iqcm T C 8: 76,304,624 (GRCm39) probably null Het
Krt9 G T 11: 100,080,485 (GRCm39) S420R probably damaging Het
Lca5l T C 16: 95,975,045 (GRCm39) N293S probably benign Het
Mb21d2 A G 16: 28,647,269 (GRCm39) I235T possibly damaging Het
Ncbp3 A G 11: 72,969,802 (GRCm39) T550A probably benign Het
Nckipsd G T 9: 108,688,882 (GRCm39) R139L possibly damaging Het
Nxn A G 11: 76,289,846 (GRCm39) V14A probably benign Het
Or8d2b T C 9: 38,788,538 (GRCm39) L22P probably damaging Het
Pramel22 G A 4: 143,382,343 (GRCm39) Q118* probably null Het
Rprd2 C A 3: 95,673,399 (GRCm39) C668F possibly damaging Het
Tmem87a A T 2: 120,211,252 (GRCm39) M231K possibly damaging Het
Trappc8 A G 18: 20,999,128 (GRCm39) V333A probably benign Het
Trit1 C A 4: 122,933,372 (GRCm39) T103K possibly damaging Het
Tspan13 A G 12: 36,065,704 (GRCm39) F203S probably damaging Het
Vmn2r114 C T 17: 23,528,939 (GRCm39) D388N probably damaging Het
Zfp617 C T 8: 72,683,015 (GRCm39) A55V probably benign Het
Other mutations in Il3ra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02454:Il3ra APN 14 14,351,113 (GRCm38) missense probably benign 0.36
IGL02547:Il3ra APN 14 14,351,970 (GRCm38) missense probably benign 0.01
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
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
Predicted Primers
Posted On 2018-05-04