Incidental Mutation 'PIT4458001:Nectin2'
ID 555910
Institutional Source Beutler Lab
Gene Symbol Nectin2
Ensembl Gene ENSMUSG00000062300
Gene Name nectin cell adhesion molecule 2
Synonyms Pvrl2, Cd112, nectin-2, MPH, Pvs
Accession Numbers
Essential gene? Probably non essential (E-score: 0.127) question?
Stock # PIT4458001 (G1)
Quality Score 107.008
Status Not validated
Chromosome 7
Chromosomal Location 19450569-19483498 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 19472252 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Valine at position 46 (L46V)
Ref Sequence ENSEMBL: ENSMUSP00000074898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075447] [ENSMUST00000108450]
AlphaFold P32507
PDB Structure Crystal structure of mouse nectin-2 extracellular fragment D1-D2 [X-RAY DIFFRACTION]
Crystal structure of mouse nectin-2 extracellular fragment D1-D2, 2nd crystal form [X-RAY DIFFRACTION]
Crystal structure of mutant F136D of mouse nectin-2 extracellular fragment D1-D2 [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000075447
AA Change: L46V

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000074898
Gene: ENSMUSG00000062300
AA Change: L46V

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
IGv 49 133 3.59e-14 SMART
IG_like 159 249 5.31e1 SMART
IG_like 261 338 8.12e1 SMART
transmembrane domain 351 373 N/A INTRINSIC
low complexity region 455 478 N/A INTRINSIC
low complexity region 486 496 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000108450
AA Change: L46V

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104089
Gene: ENSMUSG00000062300
AA Change: L46V

DomainStartEndE-ValueType
low complexity region 7 26 N/A INTRINSIC
IGv 49 133 3.59e-14 SMART
IG_like 159 249 5.31e1 SMART
IG_like 261 338 8.12e1 SMART
transmembrane domain 351 373 N/A INTRINSIC
low complexity region 416 438 N/A INTRINSIC
Coding Region Coverage
  • 1x: 93.1%
  • 3x: 90.8%
  • 10x: 85.3%
  • 20x: 73.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a single-pass type I membrane glycoprotein with two Ig-like C2-type domains and an Ig-like V-type domain. This protein is one of the plasma membrane components of adherens junctions. It also serves as an entry for certain mutant strains of herpes simplex virus and pseudorabies virus, and it is involved in cell to cell spreading of these viruses. Variations in this gene have been associated with differences in the severity of multiple sclerosis. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for targeted null mutations exhibit male sterility associated with sperm head and midpiece malformation, impaired zona binding, and lack of oocyte penetration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 G T 11: 9,248,304 (GRCm39) V2684L probably benign Het
Adamts9 T A 6: 92,866,886 (GRCm39) I718F probably damaging Het
Adcyap1r1 A G 6: 55,455,067 (GRCm39) D110G probably benign Het
Adgrd1 G A 5: 129,208,641 (GRCm39) G281D probably damaging Het
Afg1l A T 10: 42,330,366 (GRCm39) C100* probably null Het
Atp2a2 G A 5: 122,595,372 (GRCm39) Q993* probably null Het
Baz1a A G 12: 54,977,095 (GRCm39) M389T probably benign Het
Btnl4 T A 17: 34,693,242 (GRCm39) M58L probably benign Het
Card6 TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG 15: 5,128,173 (GRCm39) probably benign Het
Cpeb1 A T 7: 80,998,180 (GRCm39) F533Y probably damaging Het
Ctnna1 T A 18: 35,308,179 (GRCm39) N166K possibly damaging Het
Ecsit T C 9: 21,987,580 (GRCm39) H153R probably damaging Het
Gbp8 T C 5: 105,162,955 (GRCm39) K480E probably benign Het
Glyat A T 19: 12,625,373 (GRCm39) T66S probably benign Het
Gm1110 T C 9: 26,792,124 (GRCm39) Q632R probably benign Het
Gm12185 C T 11: 48,798,738 (GRCm39) R585Q probably damaging Het
Gm17669 TAA TAAA 18: 67,695,819 (GRCm39) probably null Het
Gm7489 A C 15: 53,749,195 (GRCm39) E89A unknown Het
Grb7 C T 11: 98,344,655 (GRCm39) Q353* probably null Het
Ifi207 G A 1: 173,562,738 (GRCm39) T136I unknown Het
Ighv3-1 T C 12: 113,928,224 (GRCm39) Y45C probably benign Het
Ing5 A G 1: 93,739,668 (GRCm39) M92V possibly damaging Het
Ivl TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG 3: 92,479,608 (GRCm39) probably benign Het
Kdm6b A T 11: 69,290,778 (GRCm39) D1630E unknown Het
Lmo7 C T 14: 102,124,923 (GRCm39) Q583* probably null Het
Lrrc37a T C 11: 103,395,338 (GRCm39) D29G probably benign Het
Mpdz G T 4: 81,337,263 (GRCm39) A10D probably damaging Het
Myh4 A G 11: 67,131,821 (GRCm39) M94V possibly damaging Het
Nynrin A T 14: 56,101,425 (GRCm39) T365S probably benign Het
Or4c120 A T 2: 89,000,977 (GRCm39) I193K probably benign Het
Pde4b A C 4: 102,459,875 (GRCm39) E570A probably damaging Het
Phf3 T C 1: 30,855,622 (GRCm39) H988R probably damaging Het
Ppfia2 A G 10: 106,763,708 (GRCm39) K1234E probably benign Het
Prl7c1 A T 13: 27,957,741 (GRCm39) M233K probably benign Het
Prp2 C T 6: 132,577,510 (GRCm39) P266S unknown Het
Ralgds T C 2: 28,432,486 (GRCm39) L160P probably damaging Het
Rasa1 A T 13: 85,375,237 (GRCm39) M664K possibly damaging Het
Ryr2 T C 13: 11,570,334 (GRCm39) T4930A probably benign Het
Senp8 T C 9: 59,644,763 (GRCm39) Y131C probably damaging Het
Sp100 A G 1: 85,635,837 (GRCm39) I547M probably benign Het
Spata20 A G 11: 94,375,434 (GRCm39) M120T probably damaging Het
Spata31 A G 13: 65,069,664 (GRCm39) H604R probably benign Het
Sycp1 A T 3: 102,842,149 (GRCm39) S53T probably benign Het
Tgm1 T C 14: 55,950,022 (GRCm39) D62G unknown Het
Trpm1 G C 7: 63,918,309 (GRCm39) E1434Q possibly damaging Het
Tshb A T 3: 102,685,480 (GRCm39) Y50N probably damaging Het
Wdr17 A T 8: 55,126,614 (GRCm39) Y413* probably null Het
Zdhhc16 G A 19: 41,926,209 (GRCm39) G55R possibly damaging Het
Other mutations in Nectin2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01982:Nectin2 APN 7 19,451,487 (GRCm39) missense probably damaging 1.00
IGL03184:Nectin2 APN 7 19,472,231 (GRCm39) missense possibly damaging 0.86
R0012:Nectin2 UTSW 7 19,464,669 (GRCm39) splice site probably benign
R0012:Nectin2 UTSW 7 19,464,669 (GRCm39) splice site probably benign
R0555:Nectin2 UTSW 7 19,467,148 (GRCm39) splice site probably benign
R0764:Nectin2 UTSW 7 19,483,096 (GRCm39) splice site probably null
R1252:Nectin2 UTSW 7 19,451,523 (GRCm39) missense probably benign 0.18
R1465:Nectin2 UTSW 7 19,464,041 (GRCm39) missense probably benign
R1465:Nectin2 UTSW 7 19,464,041 (GRCm39) missense probably benign
R1833:Nectin2 UTSW 7 19,451,633 (GRCm39) missense probably damaging 0.96
R2115:Nectin2 UTSW 7 19,451,489 (GRCm39) missense probably damaging 0.98
R2168:Nectin2 UTSW 7 19,464,539 (GRCm39) missense probably damaging 0.98
R3801:Nectin2 UTSW 7 19,451,561 (GRCm39) missense probably benign
R3825:Nectin2 UTSW 7 19,458,510 (GRCm39) missense possibly damaging 0.94
R4877:Nectin2 UTSW 7 19,451,645 (GRCm39) missense possibly damaging 0.55
R5062:Nectin2 UTSW 7 19,472,198 (GRCm39) missense probably benign 0.09
R5082:Nectin2 UTSW 7 19,472,049 (GRCm39) missense probably damaging 0.99
R5693:Nectin2 UTSW 7 19,458,794 (GRCm39) missense probably benign 0.00
R6042:Nectin2 UTSW 7 19,472,063 (GRCm39) missense probably benign 0.01
R6060:Nectin2 UTSW 7 19,451,700 (GRCm39) missense probably damaging 1.00
R6657:Nectin2 UTSW 7 19,472,065 (GRCm39) missense probably benign 0.41
R7437:Nectin2 UTSW 7 19,483,193 (GRCm39) nonsense probably null
R7476:Nectin2 UTSW 7 19,451,546 (GRCm39) missense possibly damaging 0.82
R7523:Nectin2 UTSW 7 19,464,037 (GRCm39) missense probably benign 0.00
R7538:Nectin2 UTSW 7 19,464,544 (GRCm39) missense probably damaging 1.00
R7910:Nectin2 UTSW 7 19,466,912 (GRCm39) nonsense probably null
R8181:Nectin2 UTSW 7 19,458,733 (GRCm39) missense probably damaging 1.00
R8394:Nectin2 UTSW 7 19,467,137 (GRCm39) critical splice acceptor site probably null
R8406:Nectin2 UTSW 7 19,472,275 (GRCm39) missense probably damaging 0.99
R8419:Nectin2 UTSW 7 19,472,003 (GRCm39) missense probably damaging 1.00
R8419:Nectin2 UTSW 7 19,451,646 (GRCm39) missense probably benign 0.00
R9188:Nectin2 UTSW 7 19,453,119 (GRCm39) critical splice donor site probably null
Z1176:Nectin2 UTSW 7 19,472,288 (GRCm39) missense probably benign 0.15
Predicted Primers PCR Primer
(F):5'- CGCTCTGACAAAGGACAGAC -3'
(R):5'- GGTCAGGTGTGGTGACTCA -3'

Sequencing Primer
(F):5'- ACGGTCCTTGCTGAACTGAGAG -3'
(R):5'- TTGTGAGTACAAGGCCACTC -3'
Posted On 2019-06-07