|Institutional Source||Beutler Lab|
|Gene Name||CD19 antigen|
Ncbi Ref Seq: NM_009844.2; MGI: 88319
|Essential gene?||Probably essential (E-score: 0.756)|
|Stock #||R7464 (G1)|
|Chromosomal Location||126408450-126414889 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 126411803 bp (GRCm38)|
|Amino Acid Change||Arginine to Leucine at position 323 (R323L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000145803 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000032968] [ENSMUST00000206325]|
AA Change: R322L
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: R322L
AA Change: R323L
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|Coding Region Coverage||
|Validation Efficiency||96% (79/82)|
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'- AGTGTGTAGGGATGCCTACC -3'
(R):5'- TGGCCAATCTAATGCACCC -3'
(F):5'- GGATGCCTACCCAAAGAGTTTG -3'
(R):5'- TCTAATGCACCCCACAGCCTC -3'