|Institutional Source||Beutler Lab|
|Gene Name||chemokine (C-C motif) receptor 7|
|Synonyms||EBI1, Ebi1h, Cmkbr7, CD197|
|Is this an essential gene?||Possibly non essential (E-score: 0.289)|
|Stock #||R6275 (G1)|
|Chromosomal Location||99144196-99155077 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 99145663 bp|
|Amino Acid Change||Methionine to Isoleucine at position 144 (M144I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000099423 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000103134]|
|Predicted Effect||probably damaging
AA Change: M144I
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: M144I
|Meta Mutation Damage Score||0.6695|
|Coding Region Coverage||
|Validation Efficiency||98% (56/57)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the G protein-coupled receptor family. This receptor was identified as a gene induced by the Epstein-Barr virus (EBV), and is thought to be a mediator of EBV effects on B lymphocytes. This receptor is expressed in various lymphoid tissues and activates B and T lymphocytes. It has been shown to control the migration of memory T cells to inflamed tissues, as well as stimulate dendritic cell maturation. The chemokine (C-C motif) ligand 19 (CCL19/ECL) has been reported to be a specific ligand of this receptor. Signals mediated by this receptor regulate T cell homeostasis in lymph nodes, and may also function in the activation and polarization of T cells, and in chronic inflammation pathogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014]
PHENOTYPE: Homozygous mice exhibit an impaired primary immune response. Dendritic cells, B, T and T regulatory cells show impaired migration to the lymph nodes and secondary lymph organs exhibit morphological abnormalities. Lymphocytic infiltrates to the pancreas, lung and stomach are observed in aged mice. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ccr7||
(F):5'- TGATCAAGGCCTCCACTTGG -3'
(R):5'- GGCTCAAGACCATGACGGATAC -3'
(F):5'- AGTGAGCATCTCAGCGTGTC -3'
(R):5'- GGATACCTACCTGCTCAACCTGG -3'