|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 #||R6841 (G1)|
|Chromosomal Location||55839953-55895285 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 55844322 bp|
|Amino Acid Change||Methionine to Valine at position 512 (M512V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000097296 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000099705]|
|Predicted Effect||possibly damaging
AA Change: M512V
PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
AA Change: M512V
|Meta Mutation Damage Score||0.1515|
|Coding Region Coverage||
|Validation Efficiency||99% (71/72)|
|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'- TGGAAAGGTCACTGGACGTG -3'
(R):5'- AGCCGTATGGTCTCACTTTAGC -3'
(F):5'- ACTGGACGTGATTGCTCCAG -3'
(R):5'- CCCCTTGGAAGTCTACATCCGG -3'