|Institutional Source||Beutler Lab|
|Gene Name||intercellular adhesion molecule 5, telencephalin|
|Synonyms||Tlcn, TLN, Icam3, CD50|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4117 (G1)|
|Chromosomal Location||21032073-21039036 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 21037590 bp|
|Amino Acid Change||Valine to Glutamic Acid at position 746 (V746E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000019616 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000019616]|
|Predicted Effect||probably damaging
AA Change: V746E
PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
AA Change: V746E
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.4419|
|Coding Region Coverage||
|Validation Efficiency||97% (31/32)|
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 intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein is expressed on the surface of telencephalic neurons and displays two types of adhesion activity, homophilic binding between neurons and heterophilic binding between neurons and leukocytes. It may be a critical component in neuron-microglial cell interactions in the course of normal development or as part of neurodegenerative diseases. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice exhibit enhanced long-term potentiation, sensorimotor gating, and reward-based learning. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Icam5||
(F):5'- AGACTTCTCTGAATCCCCAGC -3'
(R):5'- GTCGCTGCACACTCATACTC -3'
(F):5'- GCCCCAACCATCTCAGTAAG -3'
(R):5'- ACTCATACTCGCCGCCATGG -3'