|Institutional Source||Beutler Lab|
|Gene Name||colony stimulating factor 2 (granulocyte-macrophage)|
|Synonyms||Gm-CSf, GMCSF, MGI-IGM, Csfgm|
|Is this an essential gene?||Probably non essential (E-score: 0.126)|
|Stock #||R1482 (G1)|
|Chromosomal Location||54247271-54249667 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 54248563 bp|
|Amino Acid Change||Lysine to Glutamic Acid at position 65 (K65E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000019060 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000019060]|
|Predicted Effect||probably benign
AA Change: K65E
PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
AA Change: K65E
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cytokine that controls the production, differentiation, and function of granulocytes and macrophages. The active form of the protein is found extracellularly as a homodimer. This gene has been localized to a cluster of related genes at chromosome region 5q31, which is known to be associated with interstitial deletions in the 5q- syndrome and acute myelogenous leukemia. Other genes in the cluster include those encoding interleukins 4, 5, and 13. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit lung abnormalities with lymphocytic infiltration and accumulation of surfactant lipids. Litter sizes from homozygous breeding pairs are smaller at weaning due to perinatal mortality. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Csf2||
(F):5'- ATGGCATGTGTGACATGGGCAG -3'
(R):5'- ACAGCACTTGGAACTGGGAACC -3'
(F):5'- ACATGGGCAGATGGTTCCTC -3'
(R):5'- CACTTGGAACTGGGAACCTCTATG -3'