Incidental Mutation 'IGL01939:Nectin1'
ID 180824
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: 0.765) question?
Stock # IGL01939
Quality Score
Status
Chromosome 9
Chromosomal Location 43655251-43718758 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 43703871 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000149131 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034510] [ENSMUST00000216893]
AlphaFold Q9JKF6
Predicted Effect probably benign
Transcript: ENSMUST00000034510
SMART Domains Protein: ENSMUSP00000034510
Gene: ENSMUSG00000032012

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 G T 4: 129,885,925 (GRCm39) D22Y probably damaging Het
Ak7 T C 12: 105,701,183 (GRCm39) V242A probably benign Het
Cacna1b T C 2: 24,551,769 (GRCm39) N1127S probably damaging Het
Cacnb2 A T 2: 14,976,380 (GRCm39) H267L probably benign Het
Ces1b C T 8: 93,806,059 (GRCm39) G61R probably damaging Het
Cgnl1 T A 9: 71,632,286 (GRCm39) D355V probably damaging Het
Col24a1 T C 3: 145,021,005 (GRCm39) S459P probably damaging Het
Crygd T C 1: 65,101,185 (GRCm39) T137A probably benign Het
Dctn4 T A 18: 60,677,202 (GRCm39) M174K probably benign Het
Evi5 A G 5: 107,964,790 (GRCm39) probably benign Het
Fat2 T G 11: 55,174,806 (GRCm39) D1969A probably benign Het
Fcrl5 A T 3: 87,353,606 (GRCm39) E317V probably damaging Het
Foxf2 G T 13: 31,810,697 (GRCm39) S212I probably damaging Het
Gm21759 T A 5: 8,230,685 (GRCm39) probably benign Het
Gm5414 A G 15: 101,534,105 (GRCm39) probably benign Het
Gm7275 T C 16: 47,893,946 (GRCm39) noncoding transcript Het
Hspa9 T C 18: 35,071,761 (GRCm39) E613G possibly damaging Het
Il1rl1 A G 1: 40,501,168 (GRCm39) I515V possibly damaging Het
Ins1 G T 19: 52,253,173 (GRCm39) A38S probably damaging Het
Klhl31 A G 9: 77,562,488 (GRCm39) N418D probably benign Het
Magi3 T C 3: 103,961,778 (GRCm39) K417E probably damaging Het
Msh4 A G 3: 153,563,226 (GRCm39) Y823H probably damaging Het
Myo6 T A 9: 80,168,100 (GRCm39) D421E probably damaging Het
Myom3 T C 4: 135,492,900 (GRCm39) S150P possibly damaging Het
Nkx1-2 A T 7: 132,201,203 (GRCm39) I18N probably damaging Het
Or4s2b A G 2: 88,509,077 (GRCm39) T286A probably damaging Het
Or5b113 A T 19: 13,342,807 (GRCm39) I272F probably benign Het
Or8g33 A C 9: 39,337,634 (GRCm39) H244Q probably damaging Het
Or9g4 T C 2: 85,505,285 (GRCm39) D70G probably damaging Het
Pde8b T C 13: 95,232,232 (GRCm39) R237G probably damaging Het
Pp2d1 G A 17: 53,822,167 (GRCm39) L300F probably damaging Het
Ptpn21 A T 12: 98,655,420 (GRCm39) Y516N probably damaging Het
Ptprm T A 17: 67,370,158 (GRCm39) probably benign Het
Rabggtb A G 3: 153,617,650 (GRCm39) V16A probably damaging Het
Rangap1 A T 15: 81,604,864 (GRCm39) C82S probably damaging Het
Rasal2 T C 1: 157,003,480 (GRCm39) E393G probably damaging Het
Rasgrf1 A T 9: 89,856,889 (GRCm39) E449V probably damaging Het
Rrp12 A T 19: 41,859,334 (GRCm39) H1143Q probably damaging Het
Scap T C 9: 110,208,549 (GRCm39) I530T probably benign Het
Sel1l T A 12: 91,783,021 (GRCm39) Q482L probably damaging Het
Serpinb9b T C 13: 33,223,648 (GRCm39) M280T probably damaging Het
Slc39a10 T A 1: 46,871,895 (GRCm39) H348L probably benign Het
Slc7a2 T C 8: 41,367,120 (GRCm39) L542P possibly damaging Het
Tas1r2 A T 4: 139,396,488 (GRCm39) Q609L probably damaging Het
Tbc1d14 A T 5: 36,665,781 (GRCm39) probably benign Het
Tfb2m A G 1: 179,365,262 (GRCm39) probably null Het
Tpo T C 12: 30,134,646 (GRCm39) T771A possibly damaging Het
Tpr G A 1: 150,289,496 (GRCm39) R609H possibly damaging Het
Usp34 T A 11: 23,295,141 (GRCm39) probably benign Het
Vmn1r193 G T 13: 22,403,893 (GRCm39) S33* probably null Het
Vmn2r104 A C 17: 20,250,187 (GRCm39) S695A probably damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r24 A G 6: 123,764,404 (GRCm39) D427G probably benign Het
Zfp362 A G 4: 128,680,846 (GRCm39) S160P probably benign Het
Other mutations in Nectin1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01618:Nectin1 APN 9 43,702,555 (GRCm39) nonsense probably null
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
R9744:Nectin1 UTSW 9 43,715,240 (GRCm39) missense probably damaging 0.97
Posted On 2014-05-07