|Institutional Source||Beutler Lab|
|Gene Name||junction adhesion molecule 2|
|Synonyms||JAM-2, Jcam2, 2410030G21Rik, 2410167M24Rik, VE-JAM|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4679 (G1)|
|Chromosomal Location||84774123-84825928 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 84812952 bp|
|Amino Acid Change||Valine to Methionine at position 151 (V151M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000109833 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000098407] [ENSMUST00000114195] [ENSMUST00000231910]|
|Predicted Effect||probably benign
|Predicted Effect||probably damaging
AA Change: V151M
PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
AA Change: V151M
|Predicted Effect||noncoding transcript
|Predicted Effect||possibly damaging
AA Change: V175M
PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|Meta Mutation Damage Score||0.1064|
|Coding Region Coverage||
|Validation Efficiency||98% (112/114)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the immunoglobulin superfamily, and the junctional adhesion molecule (JAM) family. The protein encoded by this gene is a type I membrane protein that is localized at the tight junctions of both epithelial and endothelial cells. It acts as an adhesive ligand for interacting with a variety of immune cell types, and may play a role in lymphocyte homing to secondary lymphoid organs. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and overtly normal with no detectable spermatogenesis abnormalities or defects in embryonic, neural and hematopoietic stem cell properties. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Jam2||
(F):5'- TCAAGTGTTCTGATAACTACTGGG -3'
(R):5'- AAGTTTAATGCCTGAAACGACC -3'
(F):5'- TGTATATAACCTACCTGGGAGCAAG -3'
(R):5'- GTTTAATGCCTGAAACGACCTTACC -3'