|Institutional Source||Beutler Lab|
|Gene Name||neurexophilin and PC-esterase domain family, member 3|
|Synonyms||Fam55c, LOC208684, LOC385658|
|Is this an essential gene?||Probably non essential (E-score: 0.068)|
|Stock #||R6769 (G1)|
|Chromosomal Location||55839953-55895285 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 55866108 bp|
|Amino Acid Change||Glycine to Valine at position 179 (G179V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000097296 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000099705]|
|Predicted Effect||probably damaging
AA Change: G179V
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: G179V
|Meta Mutation Damage Score||0.9627|
|Coding Region Coverage||
|Validation Efficiency||98% (39/40)|
|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 neurexophilin family of neuropeptide-like glycoproteins. The encoded protein contains a variable N-terminal domain, a highly conserved neurexophilin and PC-esterase (NXPE) central domain, a short linker region, and a cysteine-rich C-terminal domain. This protein binds alpha neurexins, a group of presynaptic transmembrane receptors that promote adhesion between dendrites and axons. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nxpe3||
(F):5'- CAGATCCGTAAAGTTGCACAAGG -3'
(R):5'- CGTCATCTTGAACTCTGCAACC -3'
(F):5'- CGTAAAGTTGCACAAGGGAAGACTTC -3'
(R):5'- AACCTTCTTCAGGGTGGGGAG -3'