Incidental Mutation 'R8945:Nectin1'
ID 681248
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 068713-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.809) question?
Stock # R8945 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 43655251-43718758 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43703237 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 165 (D165G)
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: D165G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034510
Gene: ENSMUSG00000032012
AA Change: D165G

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (57/57)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aopep G T 13: 63,388,145 (GRCm39) K709N probably null Het
Aste1 G A 9: 105,273,880 (GRCm39) C40Y probably benign Het
Atp6v0a2 G T 5: 124,784,589 (GRCm39) A291S probably damaging Het
Bcl9l G T 9: 44,412,238 (GRCm39) V38L possibly damaging Het
Bmp1 T C 14: 70,727,630 (GRCm39) Y651C probably damaging Het
Btnl9 T C 11: 49,065,661 (GRCm39) E398G probably benign Het
C2cd3 A T 7: 100,040,286 (GRCm39) N285I possibly damaging Het
Cavin1 T C 11: 100,849,659 (GRCm39) T324A probably damaging Het
Ccdc73 A G 2: 104,821,712 (GRCm39) T554A probably benign Het
Clcn1 A T 6: 42,263,701 (GRCm39) M1L possibly damaging Het
Clec18a A T 8: 111,808,201 (GRCm39) S77T possibly damaging Het
Dhx32 A G 7: 133,323,876 (GRCm39) probably null Het
Dmxl1 C G 18: 50,072,639 (GRCm39) N2744K probably damaging Het
Dnah10 A C 5: 124,891,006 (GRCm39) E3199A probably damaging Het
Dnah11 G T 12: 117,987,718 (GRCm39) L2395I probably benign Het
Dthd1 A T 5: 63,007,096 (GRCm39) Y599F probably benign Het
Dusp26 G A 8: 31,586,367 (GRCm39) R196K unknown Het
Dyrk1a A G 16: 94,466,866 (GRCm39) Y140C probably damaging Het
Elmo1 T A 13: 20,766,438 (GRCm39) Y588* probably null Het
Eml6 T A 11: 29,703,110 (GRCm39) T1603S probably damaging Het
Fam162b T C 10: 51,466,469 (GRCm39) T17A probably benign Het
Fnbp1 T A 2: 30,995,346 (GRCm39) K29N probably damaging Het
Fzd4 A T 7: 89,056,792 (GRCm39) I280L possibly damaging Het
G3bp2 G A 5: 92,216,281 (GRCm39) T85I probably damaging Het
Gm13283 C T 4: 88,679,123 (GRCm39) A38V probably benign Het
Hps3 T A 3: 20,068,224 (GRCm39) H610L probably damaging Het
Ifnlr1 T G 4: 135,431,609 (GRCm39) L266R probably damaging Het
Jak1 A T 4: 101,020,109 (GRCm39) D683E probably benign Het
Lrrc1 G A 9: 77,342,373 (GRCm39) T412M probably damaging Het
Mdga1 G T 17: 30,058,959 (GRCm39) probably benign Het
Med26 T C 8: 73,250,934 (GRCm39) K55R probably benign Het
Mturn C A 6: 54,666,017 (GRCm39) C63* probably null Het
Myo1h A C 5: 114,470,784 (GRCm39) D381A probably damaging Het
Nktr T A 9: 121,575,558 (GRCm39) D330E possibly damaging Het
Oprm1 A T 10: 6,782,644 (GRCm39) probably benign Het
Papola T A 12: 105,775,946 (GRCm39) probably benign Het
Pdcl2 A T 5: 76,465,675 (GRCm39) C134S probably damaging Het
Plch1 T C 3: 63,639,039 (GRCm39) Y478C probably benign Het
Rev1 A T 1: 38,122,824 (GRCm39) W465R probably damaging Het
Rp1 T A 1: 4,419,817 (GRCm39) I432F probably benign Het
Samd14 A C 11: 94,912,027 (GRCm39) D168A probably damaging Het
Sdk1 G T 5: 141,598,935 (GRCm39) C200F probably benign Het
Spmip2 A G 3: 79,252,812 (GRCm39) H9R probably benign Het
Spsb1 T C 4: 149,991,475 (GRCm39) Y31C possibly damaging Het
Spz1 T C 13: 92,711,499 (GRCm39) K326E possibly damaging Het
Tcaf1 C T 6: 42,663,307 (GRCm39) S191N probably benign Het
Tex15 A G 8: 34,064,724 (GRCm39) S1385G probably benign Het
Tmem38a C T 8: 73,338,570 (GRCm39) A194V probably damaging Het
Trappc9 T C 15: 72,929,945 (GRCm39) N137S probably benign Het
Tshr T C 12: 91,504,997 (GRCm39) L645P probably damaging Het
Tspyl4 T A 10: 34,173,461 (GRCm39) probably benign Het
Unc13a T A 8: 72,100,597 (GRCm39) I1064F probably damaging Het
Utp20 G A 10: 88,628,532 (GRCm39) Q921* probably null Het
Vps13a A T 19: 16,642,114 (GRCm39) I2171N probably damaging Het
Zfp40 A G 17: 23,401,201 (GRCm39) V14A probably benign 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
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
Predicted Primers PCR Primer
(F):5'- TGAGGAACTTCCCAAGAGAAATTC -3'
(R):5'- AGCGGTCCAGGTGATAGTTG -3'

Sequencing Primer
(F):5'- CTGGGAAGGGCTTCAGTGTAAC -3'
(R):5'- TCCAGGTGATAGTTGACAATGC -3'
Posted On 2021-08-31