Incidental Mutation 'R7298:Nectin3'
ID 566823
Institutional Source Beutler Lab
Gene Symbol Nectin3
Ensembl Gene ENSMUSG00000022656
Gene Name nectin cell adhesion molecule 3
Synonyms 2610301B19Rik, nectin-3, 3000002N23Rik, Pvrl3, 4921513D19Rik
MMRRC Submission 045402-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.269) question?
Stock # R7298 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 46208069-46318888 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 46268759 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 548 (Y548N)
Ref Sequence ENSEMBL: ENSMUSP00000023334 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023334] [ENSMUST00000023335] [ENSMUST00000096052] [ENSMUST00000121245]
AlphaFold Q9JLB9
Predicted Effect probably damaging
Transcript: ENSMUST00000023334
AA Change: Y548N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023334
Gene: ENSMUSG00000022656
AA Change: Y548N

DomainStartEndE-ValueType
low complexity region 24 48 N/A INTRINSIC
IG 63 167 5.04e-9 SMART
Pfam:C2-set_2 173 257 1.5e-19 PFAM
Pfam:Ig_3 284 342 3.1e-6 PFAM
low complexity region 358 367 N/A INTRINSIC
transmembrane domain 404 426 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000023335
SMART Domains Protein: ENSMUSP00000023335
Gene: ENSMUSG00000022656

DomainStartEndE-ValueType
low complexity region 24 48 N/A INTRINSIC
IG 63 167 5.04e-9 SMART
Pfam:C2-set_2 173 257 2.5e-19 PFAM
Pfam:Ig_2 281 355 1.3e-6 PFAM
transmembrane domain 368 390 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000096052
SMART Domains Protein: ENSMUSP00000093757
Gene: ENSMUSG00000022656

DomainStartEndE-ValueType
low complexity region 24 48 N/A INTRINSIC
IG 63 167 5.04e-9 SMART
Pfam:C2-set_2 173 257 2e-19 PFAM
Pfam:Ig_2 281 355 1e-6 PFAM
transmembrane domain 368 390 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121245
SMART Domains Protein: ENSMUSP00000113146
Gene: ENSMUSG00000022656

DomainStartEndE-ValueType
transmembrane domain 43 65 N/A INTRINSIC
Meta Mutation Damage Score 0.4607 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 96% (52/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the nectin family of proteins, which function as adhesion molecules at adherens junctions. This family member interacts with other nectin-like proteins and with afadin, a filamentous actin-binding protein involved in the regulation of directional motility, cell proliferation and survival. This gene plays a role in ocular development involving the ciliary body. Mutations in this gene are believed to result in congenital ocular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygous null mice exhibit male infertility and eye abnormalities including microphthalmia, absent vitreous body, abnormal ciliary body, retinal layers, and lenses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A T 7: 119,807,106 (GRCm39) T51S probably benign Het
Abcc1 A G 16: 14,214,336 (GRCm39) D204G possibly damaging Het
Acaa1b C T 9: 118,980,915 (GRCm39) E172K probably benign Het
Adamts5 G A 16: 85,696,806 (GRCm39) T117I probably benign Het
Agmat A G 4: 141,474,275 (GRCm39) E52G possibly damaging Het
Alg9 C T 9: 50,690,361 (GRCm39) A121V probably damaging Het
Atf7ip2 T C 16: 10,027,032 (GRCm39) I100T possibly damaging Het
Calm2 T C 17: 87,750,165 (GRCm39) probably null Het
Cfap44 A T 16: 44,301,775 (GRCm39) M1838L probably benign Het
Cym A G 3: 107,127,009 (GRCm39) Y49H probably benign Het
Dchs1 G A 7: 105,404,338 (GRCm39) R2735* probably null Het
Dnajc6 T C 4: 101,463,808 (GRCm39) I187T probably benign Het
Fam151a G T 4: 106,592,725 (GRCm39) R69L possibly damaging Het
Gm4779 TCGGGGCCGGGGCCGGGGCCG TCGGGGCCGGGGCCGGGGCCGGGGCCG X: 100,837,777 (GRCm39) probably benign Het
Gm9922 C A 14: 101,966,961 (GRCm39) G97V unknown Het
Hacl1 A T 14: 31,338,443 (GRCm39) M378K probably damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ighv1-82 A T 12: 115,916,574 (GRCm39) I6N possibly damaging Het
Kctd19 A C 8: 106,109,616 (GRCm39) V942G probably benign Het
Lce1l C T 3: 92,757,483 (GRCm39) C125Y unknown Het
Mmp8 T C 9: 7,560,449 (GRCm39) F42S probably damaging Het
Myom2 T C 8: 15,148,411 (GRCm39) L529P probably damaging Het
Olfml3 T C 3: 103,643,176 (GRCm39) K402E probably damaging Het
Or4c12b T C 2: 89,646,865 (GRCm39) F59S probably damaging Het
Or6aa1 T A 7: 86,044,131 (GRCm39) T192S probably damaging Het
Otof T A 5: 30,545,614 (GRCm39) I514F probably damaging Het
Pira12 T A 7: 3,898,264 (GRCm39) I353F possibly damaging Het
Plch1 G T 3: 63,623,458 (GRCm39) S603* probably null Het
Ppa1 T A 10: 61,502,691 (GRCm39) D171E probably benign Het
Pramel23 C A 4: 143,425,075 (GRCm39) D123Y probably benign Het
Prss34 T C 17: 25,518,737 (GRCm39) C240R probably damaging Het
Ptpre A G 7: 135,285,016 (GRCm39) D714G probably damaging Het
Ranbp9 A G 13: 43,633,936 (GRCm39) F157L probably benign Het
Rbbp6 A G 7: 122,600,417 (GRCm39) K1475E unknown Het
Retnlg A G 16: 48,693,237 (GRCm39) N5D probably benign Het
Rev1 T C 1: 38,092,185 (GRCm39) T1245A probably damaging Het
Rngtt G T 4: 33,362,927 (GRCm39) L360F probably damaging Het
Scrib A C 15: 75,936,610 (GRCm39) V447G probably damaging Het
Slc22a6 C A 19: 8,598,684 (GRCm39) A247E possibly damaging Het
Slc25a20 G A 9: 108,539,343 (GRCm39) probably benign Het
Spag16 T A 1: 69,958,585 (GRCm39) probably null Het
Stx3 C T 19: 11,767,412 (GRCm39) W87* probably null Het
Syngap1 T A 17: 27,181,961 (GRCm39) M1158K possibly damaging Het
Tmed9 C A 13: 55,741,107 (GRCm39) H41N possibly damaging Het
Trav15-2-dv6-2 G A 14: 53,887,242 (GRCm39) S54N probably benign Het
Tyk2 C T 9: 21,020,156 (GRCm39) V1001I probably benign Het
Ugt8a A G 3: 125,709,065 (GRCm39) V15A probably benign Het
Uhrf2 A G 19: 30,065,949 (GRCm39) E661G probably benign Het
Vmn2r77 T A 7: 86,449,979 (GRCm39) I75N probably benign Het
Zfp346 T G 13: 55,278,416 (GRCm39) V258G probably damaging Het
Zfp87 T A 13: 74,520,513 (GRCm39) K188N possibly damaging Het
Zgrf1 C A 3: 127,377,299 (GRCm39) S848* probably null Het
Other mutations in Nectin3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01456:Nectin3 APN 16 46,279,216 (GRCm39) missense probably benign 0.23
R0373:Nectin3 UTSW 16 46,278,550 (GRCm39) missense probably damaging 0.99
R0550:Nectin3 UTSW 16 46,279,183 (GRCm39) missense possibly damaging 0.86
R1219:Nectin3 UTSW 16 46,275,042 (GRCm39) nonsense probably null
R1251:Nectin3 UTSW 16 46,284,205 (GRCm39) missense possibly damaging 0.82
R1398:Nectin3 UTSW 16 46,269,119 (GRCm39) missense possibly damaging 0.95
R1439:Nectin3 UTSW 16 46,268,757 (GRCm39) nonsense probably null
R2250:Nectin3 UTSW 16 46,275,099 (GRCm39) missense probably benign 0.00
R2448:Nectin3 UTSW 16 46,268,878 (GRCm39) splice site probably null
R2483:Nectin3 UTSW 16 46,215,542 (GRCm39) missense possibly damaging 0.83
R4523:Nectin3 UTSW 16 46,268,953 (GRCm39) missense probably benign 0.15
R4709:Nectin3 UTSW 16 46,284,306 (GRCm39) missense possibly damaging 0.58
R4809:Nectin3 UTSW 16 46,268,523 (GRCm39) intron probably benign
R4884:Nectin3 UTSW 16 46,269,249 (GRCm39) missense probably benign 0.01
R5051:Nectin3 UTSW 16 46,268,913 (GRCm39) missense possibly damaging 0.95
R5061:Nectin3 UTSW 16 46,268,812 (GRCm39) missense probably benign 0.03
R5272:Nectin3 UTSW 16 46,268,839 (GRCm39) missense possibly damaging 0.82
R5365:Nectin3 UTSW 16 46,284,469 (GRCm39) nonsense probably null
R5768:Nectin3 UTSW 16 46,279,180 (GRCm39) missense probably damaging 0.98
R5987:Nectin3 UTSW 16 46,284,508 (GRCm39) missense probably benign 0.00
R6029:Nectin3 UTSW 16 46,256,763 (GRCm39) missense probably benign 0.08
R6131:Nectin3 UTSW 16 46,215,515 (GRCm39) missense probably damaging 0.98
R6251:Nectin3 UTSW 16 46,215,513 (GRCm39) missense probably damaging 0.99
R6299:Nectin3 UTSW 16 46,284,345 (GRCm39) missense probably damaging 0.98
R6347:Nectin3 UTSW 16 46,278,487 (GRCm39) missense probably benign 0.01
R6360:Nectin3 UTSW 16 46,231,472 (GRCm39) missense probably benign 0.09
R6505:Nectin3 UTSW 16 46,269,184 (GRCm39) missense possibly damaging 0.68
R6703:Nectin3 UTSW 16 46,284,205 (GRCm39) missense probably damaging 0.99
R6869:Nectin3 UTSW 16 46,215,506 (GRCm39) missense probably damaging 0.96
R7184:Nectin3 UTSW 16 46,215,484 (GRCm39) missense possibly damaging 0.66
R7455:Nectin3 UTSW 16 46,317,105 (GRCm39) nonsense probably null
R7973:Nectin3 UTSW 16 46,216,484 (GRCm39) missense probably benign 0.13
R7993:Nectin3 UTSW 16 46,279,184 (GRCm39) missense probably benign 0.01
R8108:Nectin3 UTSW 16 46,284,484 (GRCm39) missense possibly damaging 0.84
R8259:Nectin3 UTSW 16 46,256,754 (GRCm39) missense probably benign 0.00
R8511:Nectin3 UTSW 16 46,284,363 (GRCm39) missense probably damaging 1.00
R8971:Nectin3 UTSW 16 46,269,265 (GRCm39) missense probably benign
R9195:Nectin3 UTSW 16 46,279,259 (GRCm39) nonsense probably null
R9264:Nectin3 UTSW 16 46,274,998 (GRCm39) missense probably damaging 1.00
R9492:Nectin3 UTSW 16 46,215,511 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGCTCAGATACATTGAACCCAGG -3'
(R):5'- TGGATTCTTACCCAGACAGTG -3'

Sequencing Primer
(F):5'- CAGATACATTGAACCCAGGTTTTAC -3'
(R):5'- TGATCCGCAAAGACTACTTAGAG -3'
Posted On 2019-06-26