Incidental Mutation 'R9744:Nectin1'
ID 731983
Institutional Source Beutler Lab
Gene Symbol Nectin1
Ensembl Gene ENSMUSG00000032012
Gene Name nectin cell adhesion molecule 1
Synonyms nectin-1, PRR1, HIgR, HveC, Cd111, PRR, Pvrl1
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.809) question?
Stock # R9744 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 43655251-43718758 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43715240 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 492 (Q492R)
Ref Sequence ENSEMBL: ENSMUSP00000034510 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034510] [ENSMUST00000216893]
AlphaFold Q9JKF6
PDB Structure Solution structure of the third Immunoglobulin-like domain of nectin-1 [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000034510
AA Change: Q492R

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034510
Gene: ENSMUSG00000032012
AA Change: Q492R

DomainStartEndE-ValueType
low complexity region 1 20 N/A INTRINSIC
IG 36 143 8.51e-7 SMART
Pfam:C2-set_2 148 237 8.5e-21 PFAM
IG 254 334 1.28e-1 SMART
transmembrane domain 355 377 N/A INTRINSIC
low complexity region 436 448 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000216893
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 98.5%
Validation Efficiency
MGI Phenotype 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
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam7 T A 14: 68,742,583 (GRCm39) M677L probably benign Het
Ankrd24 T G 10: 81,482,951 (GRCm39) D966E possibly damaging Het
Arhgef28 A G 13: 98,094,261 (GRCm39) L961P probably damaging Het
Atxn1 G A 13: 45,721,299 (GRCm39) Q199* probably null Het
Bcl2a1c G A 9: 114,159,341 (GRCm39) V40I probably benign Het
Cep41 A G 6: 30,656,603 (GRCm39) V283A probably benign Het
Cerk A G 15: 86,033,491 (GRCm39) Y311H probably damaging Het
Ciz1 A T 2: 32,253,859 (GRCm39) Q13L unknown Het
Cpeb2 T C 5: 43,391,268 (GRCm39) S155P Het
Dmbx1 T A 4: 115,777,262 (GRCm39) E200D probably damaging Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Erc1 T C 6: 119,720,360 (GRCm39) Y747C probably damaging Het
Fhad1 T C 4: 141,637,124 (GRCm39) E1114G probably damaging Het
Fndc3a C A 14: 72,777,693 (GRCm39) E1171* probably null Het
Grip1 G A 10: 119,874,569 (GRCm39) E778K possibly damaging Het
Gys2 A C 6: 142,394,187 (GRCm39) D450E probably benign Het
Hmcn1 A T 1: 150,623,941 (GRCm39) I1120N probably damaging Het
Ints3 G T 3: 90,318,605 (GRCm39) T210K probably damaging Het
Itih5 T C 2: 10,256,221 (GRCm39) Y896H probably damaging Het
Kcna7 A G 7: 45,056,402 (GRCm39) D206G probably benign Het
Klhl10 T A 11: 100,336,396 (GRCm39) C128S probably damaging Het
Klhl5 T C 5: 65,320,255 (GRCm39) V603A probably damaging Het
Mapk15 T A 15: 75,869,912 (GRCm39) I344N possibly damaging Het
Mdn1 T C 4: 32,715,711 (GRCm39) F1993L possibly damaging Het
Myo1c T C 11: 75,562,797 (GRCm39) L959P probably damaging Het
Nlrp14 A T 7: 106,796,987 (GRCm39) L951F probably damaging Het
Nlrp5 T G 7: 23,120,902 (GRCm39) S705R possibly damaging Het
Nlrp9a A G 7: 26,267,266 (GRCm39) Y787C probably benign Het
Npsr1 A G 9: 24,201,182 (GRCm39) T189A probably benign Het
Nup205 T C 6: 35,209,510 (GRCm39) Y1606H probably damaging Het
Or2w4 A G 13: 21,795,827 (GRCm39) F104S possibly damaging Het
Or4k48 C A 2: 111,475,664 (GRCm39) R226L probably benign Het
Or6z5 A T 7: 6,477,210 (GRCm39) I34L probably benign Het
Pitx2 A T 3: 129,009,467 (GRCm39) T129S probably damaging Het
Pla2g2c T C 4: 138,470,972 (GRCm39) S118P probably damaging Het
Polr1a A G 6: 71,906,372 (GRCm39) N396S probably benign Het
Prl A T 13: 27,248,338 (GRCm39) Q135L probably benign Het
Prrc2c A G 1: 162,505,733 (GRCm39) L2555P possibly damaging Het
Psg29 A T 7: 16,944,495 (GRCm39) D335V probably benign Het
Psme4 T C 11: 30,765,294 (GRCm39) probably null Het
Ramp2 T A 11: 101,137,913 (GRCm39) S52T unknown Het
Skint6 C T 4: 112,666,360 (GRCm39) G1155D probably damaging Het
Sorcs1 G A 19: 50,215,275 (GRCm39) R655C probably damaging Het
Syne1 A G 10: 5,274,184 (GRCm39) C1867R probably benign Het
Tcf21 T C 10: 22,695,726 (GRCm39) D26G probably benign Het
Tmem132a G A 19: 10,840,678 (GRCm39) P418L probably damaging Het
Tob1 C T 11: 94,105,054 (GRCm39) R197C probably damaging Het
Vmn2r110 A G 17: 20,794,848 (GRCm39) V607A probably damaging Het
Vmn2r30 A G 7: 7,315,284 (GRCm39) S850P possibly damaging Het
Other mutations in Nectin1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01618:Nectin1 APN 9 43,702,555 (GRCm39) nonsense probably null
IGL01939:Nectin1 APN 9 43,703,871 (GRCm39) unclassified probably benign
IGL01978:Nectin1 APN 9 43,703,444 (GRCm39) missense probably damaging 0.99
IGL02795:Nectin1 APN 9 43,714,849 (GRCm39) missense probably benign
K3955:Nectin1 UTSW 9 43,703,375 (GRCm39) missense probably damaging 1.00
R0563:Nectin1 UTSW 9 43,702,342 (GRCm39) missense probably benign
R1439:Nectin1 UTSW 9 43,703,396 (GRCm39) missense possibly damaging 0.78
R1822:Nectin1 UTSW 9 43,702,374 (GRCm39) nonsense probably null
R4356:Nectin1 UTSW 9 43,703,802 (GRCm39) missense probably benign 0.22
R5153:Nectin1 UTSW 9 43,714,795 (GRCm39) missense probably damaging 0.99
R5516:Nectin1 UTSW 9 43,715,090 (GRCm39) missense probably benign 0.03
R5864:Nectin1 UTSW 9 43,702,607 (GRCm39) missense probably damaging 1.00
R6903:Nectin1 UTSW 9 43,703,179 (GRCm39) missense possibly damaging 0.95
R7791:Nectin1 UTSW 9 43,703,336 (GRCm39) missense probably benign 0.08
R7878:Nectin1 UTSW 9 43,715,198 (GRCm39) missense probably benign 0.10
R8046:Nectin1 UTSW 9 43,703,798 (GRCm39) missense probably benign 0.00
R8945:Nectin1 UTSW 9 43,703,237 (GRCm39) missense probably benign
R9459:Nectin1 UTSW 9 43,715,090 (GRCm39) missense probably benign
R9526:Nectin1 UTSW 9 43,702,369 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AAAAGAAGGCCGGCCCATTG -3'
(R):5'- GGGATGCCCAAGTACACAAG -3'

Sequencing Primer
(F):5'- CGGGAGCAGCTATGAGGAG -3'
(R):5'- CCTACACACAGGGCAGTG -3'
Posted On 2022-11-14