|Institutional Source||Beutler Lab|
|Gene Name||CD19 antigen|
|Is this an essential gene?||Probably essential (E-score: 0.755)|
|Stock #||R7027 (G1)|
|Chromosomal Location||126408450-126414889 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 126410499 bp|
|Amino Acid Change||Valine to Alanine at position 465 (V465A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000145803 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000032968] [ENSMUST00000206325]|
|Predicted Effect||probably benign
AA Change: V464A
PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
AA Change: V464A
|Predicted Effect||possibly damaging
AA Change: V465A
PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
|Coding Region Coverage||
|Validation Efficiency||98% (85/87)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Lymphocytes proliferate and differentiate in response to various concentrations of different antigens. The ability of the B cell to respond in a specific, yet sensitive manner to the various antigens is achieved with the use of low-affinity antigen receptors. This gene encodes a cell surface molecule which assembles with the antigen receptor of B lymphocytes in order to decrease the threshold for antigen receptor-dependent stimulation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal B lymphocyte development, activation and differentiation, altered mast cell activation in a model for acute septic peritonitis, inhibition of bleomycin-induced fibrosis and autoantibody production, and increased susceptibility to EAE. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cd19||
(F):5'- CCTAGAAGGATGCCCTAAGC -3'
(R):5'- TCTCTAACAGATGGGAGTGGC -3'
(F):5'- CACTCTCACCAAGCGAGGATG -3'
(R):5'- AGTGGCTATGAGAACCCCG -3'