|Institutional Source||Beutler Lab|
|Gene Name||CD177 antigen|
|Is this an essential gene?||Possibly essential (E-score: 0.504)|
|Stock #||R2763 (G1)|
|Chromosomal Location||24743983-24760311 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 24758037 bp|
|Amino Acid Change||Alanine to Valine at position 193 (A193V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000064934 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000063956]|
|Predicted Effect||probably benign
AA Change: A193V
PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
AA Change: A193V
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycosyl-phosphatidylinositol (GPI)-linked cell surface glycoprotein that plays a role in neutrophil activation. The protein can bind platelet endothelial cell adhesion molecule-1 and function in neutrophil transmigration. Mutations in this gene are associated with myeloproliferative diseases. Over-expression of this gene has been found in patients with polycythemia rubra vera. Autoantibodies against the protein may result in pulmonary transfusion reactions, and it may be involved in Wegener's granulomatosis. A related pseudogene, which is adjacent to this gene on chromosome 19, has been identified. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased circulating neutrophils, increased neutrophil cell death and decreased neutrophils and monocytes early after S. aureus infection. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cd177||
(F):5'- TGCACATCTCTTGCAGACAC -3'
(R):5'- ATTAGGACTTGTCTCCTGCAG -3'
(F):5'- TCTTGCAGACACACTCTCCAG -3'
(R):5'- GGACTTGTCTCCTGCAGAAATTAG -3'