|Institutional Source||Beutler Lab|
|Gene Name||colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)|
|Synonyms||Csfgmra, CD116, GM-CSFRalpha, GM-CSF-Ra|
|Is this an essential gene?||Probably non essential (E-score: 0.081)|
|Stock #||R3149 (G1)|
|Chromosomal Location||61224402-61228418 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 61227320 bp|
|Amino Acid Change||Alanine to Serine at position 16 (A16S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000075423 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000076046]|
|Predicted Effect||possibly damaging
AA Change: A16S
PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: A16S
|Coding Region Coverage||
|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 the alpha subunit of the heterodimeric receptor for colony stimulating factor 2, a cytokine which controls the production, differentiation, and function of granulocytes and macrophages. The encoded protein is a member of the cytokine family of receptors. This gene is found in the pseudoautosomal region (PAR) of the X and Y chromosomes. Multiple transcript variants encoding different isoforms have been found for this gene, with some of the isoforms being membrane-bound and others being soluble. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Csf2ra||
(F):5'- TCACGACCGGAAGTGACATC -3'
(R):5'- GGGAATCAATAGGATAACGTCACC -3'
(F):5'- CGACCGGAAGTGACATCATTGC -3'
(R):5'- GCATGGCTCAGATGGCAG -3'