|Institutional Source||Beutler Lab|
|Gene Name||nectin cell adhesion molecule 1|
|Synonyms||HveC, Pvrl1, HIgR, nectin-1, PRR, Cd111, PRR1|
|Is this an essential gene?||Probably essential (E-score: 0.768)|
|Stock #||R1439 (G1)|
|Chromosomal Location||43743984-43807461 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 43792099 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 218 (E218G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034510 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034510] [ENSMUST00000216893]|
|PDB Structure||Solution structure of the third Immunoglobulin-like domain of nectin-1 [SOLUTION NMR]|
|Predicted Effect||possibly damaging
AA Change: E218G
PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
AA Change: E218G
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.3736|
|Coding Region Coverage||
|Validation Efficiency||100% (72/72)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an adhesion protein that plays a role in the organization of adherens junctions and tight junctions in epithelial and endothelial cells. The protein is a calcium(2+)-independent cell-cell adhesion molecule that belongs to the immunoglobulin superfamily and has 3 extracellular immunoglobulin-like loops, a single transmembrane domain (in some isoforms), and a cytoplasmic region. This protein acts as a receptor for glycoprotein D (gD) of herpes simplex viruses 1 and 2 (HSV-1, HSV-2), and pseudorabies virus (PRV) and mediates viral entry into epithelial and neuronal cells. Mutations in this gene cause cleft lip and palate/ectodermal dysplasia 1 syndrome (CLPED1) as well as non-syndromic cleft lip with or without cleft palate (CL/P). Alternative splicing results in multiple transcript variants encoding proteins with distinct C-termini. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous null mice exhibit eye abnormalities including microphthalmia, absent vitreous body, abnormal ciliary body, retinal layers, and lenses, and open eyelids at birth. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nectin1||
(F):5'- AGCAGATGCCCAGGCCATTTCAAC -3'
(R):5'- TCTATCACAGAACCTCAGCGGAAGC -3'
(F):5'- AACTAATGCCATCGTGTTGC -3'
(R):5'- ACAGGGAGATTGCAGCATTTTG -3'