|Institutional Source||Beutler Lab|
|Gene Name||feline leukemia virus subgroup C cellular receptor 2|
|Is this an essential gene?||Probably essential (E-score: 0.914)|
|Stock #||R5891 (G1)|
|Chromosomal Location||85746539-85813585 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 85796228 bp|
|Amino Acid Change||Isoleucine to Phenylalanine at position 359 (I359F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000035569 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000040461]|
|Predicted Effect||possibly damaging
AA Change: I359F
PolyPhen 2 Score 0.744 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: I359F
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.5381|
|Coding Region Coverage||
|Validation Efficiency||96% (85/89)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the major facilitator superfamily. The encoded transmembrane protein is a calcium transporter. Unlike the related protein feline leukemia virus subgroup C receptor 1, the protein encoded by this locus does not bind to feline leukemia virus subgroup C envelope protein. The encoded protein may play a role in development of brain vascular endothelial cells, as mutations at this locus have been associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Aug 2010]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Flvcr2||
(F):5'- AGAAAGTTGCCTCATACATCCCTG -3'
(R):5'- TTAAATTGAGACCCAGGGCCATC -3'
(F):5'- CACACACGGTGGTAGTGG -3'
(R):5'- GACCCAGGGCCATCTACCTC -3'