Incidental Mutation 'IGL02795:Nectin1'
ID 359961
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nectin1
Ensembl Gene ENSMUSG00000032012
Gene Name nectin cell adhesion molecule 1
Synonyms nectin-1, PRR1, HIgR, HveC, Cd111, PRR, Pvrl1
Accession Numbers
Essential gene? Probably essential (E-score: 0.809) question?
Stock # IGL02795
Quality Score
Status
Chromosome 9
Chromosomal Location 43655251-43718758 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43714849 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 362 (S362G)
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 benign
Transcript: ENSMUST00000034510
AA Change: S362G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034510
Gene: ENSMUSG00000032012
AA Change: S362G

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
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,327,907 (GRCm39) L1391P probably damaging Het
Abcc3 G A 11: 94,252,468 (GRCm39) probably benign Het
Acvr1 A G 2: 58,352,964 (GRCm39) I332T probably damaging Het
Atp8a2 C T 14: 60,271,191 (GRCm39) V247M probably damaging Het
Btn1a1 T C 13: 23,644,786 (GRCm39) probably null Het
Btnl9 A T 11: 49,065,694 (GRCm39) probably benign Het
Dbx1 T A 7: 49,286,325 (GRCm39) I47F probably benign Het
Dennd2b T C 7: 109,155,571 (GRCm39) Y393C probably damaging Het
Dnaja3 A G 16: 4,507,937 (GRCm39) probably benign Het
Dnmt1 T C 9: 20,838,407 (GRCm39) S220G probably benign Het
Dock9 A T 14: 121,877,390 (GRCm39) M451K probably benign Het
Eml3 A G 19: 8,911,142 (GRCm39) Y257C probably benign Het
Fam3d T A 14: 8,355,497 (GRCm38) M113L probably benign Het
Fbxw19 C A 9: 109,324,886 (GRCm39) M10I possibly damaging Het
Flg2 C T 3: 93,110,920 (GRCm39) R983W unknown Het
Galnt5 C A 2: 57,917,883 (GRCm39) P707H probably damaging Het
Gba2 G T 4: 43,578,331 (GRCm39) P6Q probably damaging Het
Gm13199 A G 2: 5,867,484 (GRCm39) probably benign Het
Gpr45 C T 1: 43,071,653 (GRCm39) R99C possibly damaging Het
Hecw1 G A 13: 14,497,102 (GRCm39) S302L probably damaging Het
Hrg T C 16: 22,776,303 (GRCm39) probably benign Het
Lama1 A G 17: 68,045,889 (GRCm39) probably null Het
Lgr4 T C 2: 109,838,555 (GRCm39) probably benign Het
Lrrc9 C T 12: 72,525,542 (GRCm39) T830M probably damaging Het
Mdga2 T C 12: 66,736,206 (GRCm39) T341A probably benign Het
Mms19 C T 19: 41,940,845 (GRCm39) probably null Het
Nlrc3 G T 16: 3,783,149 (GRCm39) H87N probably damaging Het
Or1e17 G A 11: 73,831,755 (GRCm39) V228I probably benign Het
Or2ah1 T A 2: 85,653,856 (GRCm39) C180* probably null Het
Or4b13 A G 2: 90,082,906 (GRCm39) L142P probably damaging Het
Or52a20 T A 7: 103,366,090 (GRCm39) F96L probably benign Het
Or5h17 G T 16: 58,820,640 (GRCm39) L197F possibly damaging Het
Pcsk1 G T 13: 75,260,739 (GRCm39) G321C probably damaging Het
Poglut3 A G 9: 53,303,405 (GRCm39) D99G probably damaging Het
Prrc2c G T 1: 162,541,868 (GRCm39) P374T probably benign Het
Rusc1 A T 3: 88,999,257 (GRCm39) L175Q probably damaging Het
Ryr2 T C 13: 11,610,076 (GRCm39) N4250S probably benign Het
Scara5 A C 14: 65,968,129 (GRCm39) N134T possibly damaging Het
Sema4d T C 13: 51,857,447 (GRCm39) K595R probably benign Het
Serpinb6a A C 13: 34,115,576 (GRCm39) L15R probably damaging Het
Setdb1 A T 3: 95,234,684 (GRCm39) N1006K probably damaging Het
Slc18a2 G A 19: 59,262,922 (GRCm39) probably benign Het
Slc22a30 C T 19: 8,378,259 (GRCm39) C139Y probably damaging Het
Slc25a27 T A 17: 43,958,003 (GRCm39) Y269F probably damaging Het
Slc9c1 A T 16: 45,395,782 (GRCm39) D611V probably benign Het
Spag6 G T 2: 18,737,894 (GRCm39) V255F probably benign Het
Svep1 C A 4: 58,123,223 (GRCm39) G698W probably damaging Het
Syne2 T C 12: 76,013,323 (GRCm39) L2839P probably damaging Het
Tfb2m T C 1: 179,373,524 (GRCm39) E58G possibly damaging Het
Trim24 A T 6: 37,896,324 (GRCm39) E260D probably damaging Het
Ugt2b1 T A 5: 87,065,560 (GRCm39) D493V probably damaging Het
Vmn1r27 A G 6: 58,192,287 (GRCm39) V189A possibly damaging Het
Vmn2r91 A G 17: 18,305,539 (GRCm39) Q74R probably benign Het
Vps25 A G 11: 101,146,916 (GRCm39) Y64C probably damaging Het
Xirp2 G A 2: 67,339,480 (GRCm39) G574S probably damaging Het
Ythdc2 A G 18: 44,970,505 (GRCm39) E273G 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
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
R9744:Nectin1 UTSW 9 43,715,240 (GRCm39) missense probably damaging 0.97
Posted On 2015-12-18