Incidental Mutation 'R2409:Il3ra'
ID 248142
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 040375-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R2409 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 8114270-8123851 bp(-) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to A at 14349377 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153664 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090591] [ENSMUST00000223589] [ENSMUST00000224163] [ENSMUST00000224877] [ENSMUST00000225775]
AlphaFold P26952
Predicted Effect probably null
Transcript: ENSMUST00000090591
SMART Domains Protein: ENSMUSP00000088079
Gene: ENSMUSG00000068758

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 null
Transcript: ENSMUST00000223589
Predicted Effect probably null
Transcript: ENSMUST00000224163
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224415
Predicted Effect probably null
Transcript: ENSMUST00000224877
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224991
Predicted Effect probably null
Transcript: ENSMUST00000225775
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225560
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 94.0%
Validation Efficiency 100% (32/32)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a C T 5: 8,788,747 (GRCm39) T1042I probably benign Het
Adamts13 A G 2: 26,868,374 (GRCm39) T162A probably benign Het
Adamts7 T A 9: 90,062,740 (GRCm39) I398N probably damaging Het
Cib2 A G 9: 54,452,751 (GRCm39) probably null Het
Cyp3a16 T C 5: 145,377,177 (GRCm39) K470R probably benign Het
Dpy19l2 A G 9: 24,569,924 (GRCm39) M343T probably benign Het
Dyrk2 A G 10: 118,696,532 (GRCm39) V242A probably benign Het
Extl3 T C 14: 65,315,017 (GRCm39) D55G probably benign Het
Fabp7 A G 10: 57,661,772 (GRCm39) K82E possibly damaging Het
Fat1 G T 8: 45,493,567 (GRCm39) probably benign Het
Gen1 A G 12: 11,299,165 (GRCm39) I280T possibly damaging Het
Gm5117 T C 8: 32,227,306 (GRCm39) noncoding transcript Het
Gucy1b2 CCGTGTTT C 14: 62,643,628 (GRCm39) probably null Het
Myo1f A G 17: 33,795,641 (GRCm39) N66D probably damaging Het
Nfkb1 C T 3: 135,319,704 (GRCm39) E264K possibly damaging Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Or7d10 G T 9: 19,832,072 (GRCm39) R189L probably benign Het
Or7d10 G C 9: 19,832,077 (GRCm39) D191H probably damaging Het
Prdm10 A G 9: 31,260,418 (GRCm39) H624R possibly damaging Het
Rgs5 G T 1: 169,504,451 (GRCm39) V34F possibly damaging Het
Sec14l4 T C 11: 3,990,048 (GRCm39) S116P probably benign Het
Septin1 T C 7: 126,815,143 (GRCm39) probably null Het
Septin9 T A 11: 117,251,287 (GRCm39) I535N probably damaging Het
Sh2b1 C T 7: 126,070,651 (GRCm39) G350D probably damaging Het
Slc6a21 T C 7: 44,929,750 (GRCm39) V107A probably benign Het
Trim26 C A 17: 37,161,895 (GRCm39) H105N probably damaging Het
Trim71 A T 9: 114,342,781 (GRCm39) D500E possibly damaging Het
Vmn2r78 T A 7: 86,569,953 (GRCm39) probably benign Het
Vmn2r84 A G 10: 130,227,940 (GRCm39) S99P probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- TCCATCATGACCGCAGTGAC -3'
(R):5'- TGCCCACCTGGAAATGAAC -3'

Sequencing Primer
(F):5'- TGACCGCAGTGACCCCATC -3'
(R):5'- GTGACATCATCAAAGGTGACCTC -3'
Posted On 2014-11-11