Incidental Mutation 'IGL02608:Nectin4'
ID 300366
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nectin4
Ensembl Gene ENSMUSG00000006411
Gene Name nectin cell adhesion molecule 4
Synonyms Pvrl4, 1200017F15Rik, nectin 4, Prr4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # IGL02608
Quality Score
Status
Chromosome 1
Chromosomal Location 171197741-171215855 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 171212341 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 313 (V313A)
Ref Sequence ENSEMBL: ENSMUSP00000106917 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006578] [ENSMUST00000056449] [ENSMUST00000094325] [ENSMUST00000111286]
AlphaFold Q8R007
Predicted Effect probably benign
Transcript: ENSMUST00000006578
AA Change: V313A

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000006578
Gene: ENSMUSG00000006411
AA Change: V313A

DomainStartEndE-ValueType
IG 36 145 9.26e-8 SMART
Pfam:Ig_2 147 241 4e-4 PFAM
Pfam:C2-set_2 150 233 9e-17 PFAM
IGc2 259 321 9.78e-7 SMART
transmembrane domain 348 370 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000056449
SMART Domains Protein: ENSMUSP00000059389
Gene: ENSMUSG00000048865

DomainStartEndE-ValueType
low complexity region 6 14 N/A INTRINSIC
RhoGAP 31 212 1.4e-61 SMART
Blast:RhoGAP 225 285 2e-24 BLAST
low complexity region 348 366 N/A INTRINSIC
low complexity region 367 378 N/A INTRINSIC
low complexity region 452 463 N/A INTRINSIC
low complexity region 498 510 N/A INTRINSIC
low complexity region 514 534 N/A INTRINSIC
low complexity region 667 690 N/A INTRINSIC
low complexity region 736 752 N/A INTRINSIC
low complexity region 924 940 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000094325
AA Change: V313A

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000091883
Gene: ENSMUSG00000006411
AA Change: V313A

DomainStartEndE-ValueType
IG 36 145 9.26e-8 SMART
Pfam:Ig_2 147 241 2.1e-4 PFAM
Pfam:C2-set_2 150 233 8.7e-17 PFAM
IGc2 259 321 9.78e-7 SMART
transmembrane domain 348 370 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111286
AA Change: V313A

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000106917
Gene: ENSMUSG00000006411
AA Change: V313A

DomainStartEndE-ValueType
IG 100 209 9.26e-8 SMART
Pfam:C2-set_2 214 297 1.2e-16 PFAM
IGc2 323 385 9.78e-7 SMART
transmembrane domain 412 434 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131607
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135312
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194914
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 a member of the nectin family. The encoded protein contains two immunoglobulin-like (Ig-like) C2-type domains and one Ig-like V-type domain. It is involved in cell adhesion through trans-homophilic and -heterophilic interactions. It is a single-pass type I membrane protein. The soluble form is produced by proteolytic cleavage at the cell surface by the metalloproteinase ADAM17/TACE. The secreted form is found in both breast tumor cell lines and breast tumor patients. Mutations in this gene are the cause of ectodermal dysplasia-syndactyly syndrome type 1, an autosomal recessive disorder. Alternatively spliced transcript variants have been found but the full-length nature of the variant has not been determined.[provided by RefSeq, Jan 2011]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas T A 15: 102,247,627 (GRCm39) M415L probably benign Het
Akap6 T C 12: 53,057,389 (GRCm39) S952P probably benign Het
Aldh3a1 A G 11: 61,107,147 (GRCm39) R284G probably damaging Het
Aldh3b1 G T 19: 3,964,061 (GRCm39) H414N probably damaging Het
Chd5 G A 4: 152,440,564 (GRCm39) M141I possibly damaging Het
Cntn2 C T 1: 132,453,654 (GRCm39) A340T possibly damaging Het
Daw1 T A 1: 83,187,055 (GRCm39) C288* probably null Het
Dcn A G 10: 97,319,319 (GRCm39) E32G probably damaging Het
Dock5 C T 14: 68,065,888 (GRCm39) V372M probably benign Het
Etf1 T C 18: 35,064,670 (GRCm39) E13G probably damaging Het
Filip1l A G 16: 57,392,469 (GRCm39) E781G probably benign Het
Gucy1a2 A G 9: 3,635,113 (GRCm39) I386V probably damaging Het
Gvin-ps5 T A 7: 105,928,876 (GRCm39) noncoding transcript Het
Hoxb5 T A 11: 96,195,969 (GRCm39) probably benign Het
Iqch T A 9: 63,329,110 (GRCm39) probably benign Het
Itgal C T 7: 126,909,416 (GRCm39) P423S probably damaging Het
Kti12 T G 4: 108,705,359 (GRCm39) L91R probably damaging Het
Lgals3 T C 14: 47,623,058 (GRCm39) M239T probably benign Het
Lrrc8a T C 2: 30,146,311 (GRCm39) M375T possibly damaging Het
Ly75 T C 2: 60,152,244 (GRCm39) E1103G probably benign Het
Lyst A T 13: 13,887,339 (GRCm39) E3056V probably damaging Het
Map3k7 T C 4: 31,981,452 (GRCm39) probably benign Het
Ncor1 G A 11: 62,264,040 (GRCm39) T180I probably benign Het
Nol4l A G 2: 153,278,213 (GRCm39) S8P possibly damaging Het
Npas2 T A 1: 39,384,527 (GRCm39) S607T probably benign Het
Nup155 T A 15: 8,138,955 (GRCm39) M9K probably benign Het
Nwd1 T C 8: 73,394,003 (GRCm39) L422P probably damaging Het
Or14j3 T A 17: 37,901,110 (GRCm39) I45F probably damaging Het
Papola G T 12: 105,775,818 (GRCm39) G245C probably damaging Het
Pcdhb6 T C 18: 37,467,747 (GRCm39) S223P probably damaging Het
Pdcd4 T C 19: 53,915,638 (GRCm39) probably null Het
Pigg T C 5: 108,460,869 (GRCm39) F27L probably damaging Het
Prpf40a A T 2: 53,036,165 (GRCm39) M588K probably damaging Het
Psme4 A G 11: 30,770,944 (GRCm39) N764S probably benign Het
Ptar1 A C 19: 23,683,076 (GRCm39) E110A possibly damaging Het
Rbm12 A T 2: 155,937,818 (GRCm39) probably benign Het
Rfx7 A G 9: 72,524,576 (GRCm39) T589A probably benign Het
Rpl21-ps4 G T 14: 11,227,831 (GRCm38) noncoding transcript Het
Rpp38 T C 2: 3,330,198 (GRCm39) T235A probably benign Het
Sbno2 A T 10: 79,903,236 (GRCm39) probably null Het
Scn3a A T 2: 65,354,510 (GRCm39) C337* probably null Het
Sec61a2 T C 2: 5,879,073 (GRCm39) T312A probably benign Het
Snrpg C A 6: 86,353,550 (GRCm39) D43E probably damaging Het
Stag1 A T 9: 100,639,822 (GRCm39) Q126L probably null Het
Taar6 A G 10: 23,861,081 (GRCm39) V155A probably benign Het
Tet1 G A 10: 62,715,388 (GRCm39) H136Y possibly damaging Het
Tet1 C A 10: 62,674,866 (GRCm39) S1070I probably damaging Het
Tfcp2 T C 15: 100,411,991 (GRCm39) T327A possibly damaging Het
Tnfrsf13c C T 15: 82,107,364 (GRCm39) V144M probably damaging Het
Tnfrsf22 T A 7: 143,198,533 (GRCm39) K61* probably null Het
Trhr T C 15: 44,061,074 (GRCm39) V198A probably benign Het
Trp53inp2 A G 2: 155,228,569 (GRCm39) R175G probably damaging Het
Try10 G A 6: 41,332,421 (GRCm39) G26R probably damaging Het
Vmn1r205 A G 13: 22,776,370 (GRCm39) V244A probably damaging Het
Wrnip1 T A 13: 32,990,857 (GRCm39) L372H probably damaging Het
Zfp280d T A 9: 72,215,261 (GRCm39) L149Q probably damaging Het
Zfp445 A G 9: 122,690,940 (GRCm39) V85A probably damaging Het
Other mutations in Nectin4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00819:Nectin4 APN 1 171,212,254 (GRCm39) missense probably damaging 1.00
IGL01558:Nectin4 APN 1 171,212,257 (GRCm39) missense probably benign 0.00
R2047:Nectin4 UTSW 1 171,212,720 (GRCm39) missense possibly damaging 0.61
R2203:Nectin4 UTSW 1 171,213,797 (GRCm39) missense possibly damaging 0.78
R2518:Nectin4 UTSW 1 171,207,776 (GRCm39) missense probably benign 0.00
R4125:Nectin4 UTSW 1 171,213,301 (GRCm39) missense probably benign 0.02
R4708:Nectin4 UTSW 1 171,212,714 (GRCm39) missense probably benign 0.02
R4856:Nectin4 UTSW 1 171,212,383 (GRCm39) missense possibly damaging 0.46
R4886:Nectin4 UTSW 1 171,212,383 (GRCm39) missense possibly damaging 0.46
R5222:Nectin4 UTSW 1 171,212,825 (GRCm39) splice site probably null
R5264:Nectin4 UTSW 1 171,211,273 (GRCm39) missense probably benign 0.00
R5661:Nectin4 UTSW 1 171,212,738 (GRCm39) missense probably damaging 1.00
R6466:Nectin4 UTSW 1 171,214,321 (GRCm39) missense probably damaging 1.00
R6714:Nectin4 UTSW 1 171,198,218 (GRCm39) start gained probably benign
R7272:Nectin4 UTSW 1 171,214,212 (GRCm39) missense probably damaging 1.00
R7302:Nectin4 UTSW 1 171,214,203 (GRCm39) nonsense probably null
R7318:Nectin4 UTSW 1 171,208,031 (GRCm39) missense probably benign 0.16
R7669:Nectin4 UTSW 1 171,207,827 (GRCm39) missense probably benign 0.00
R7732:Nectin4 UTSW 1 171,214,246 (GRCm39) missense probably benign 0.00
R7751:Nectin4 UTSW 1 171,211,326 (GRCm39) critical splice donor site probably null
R7912:Nectin4 UTSW 1 171,207,941 (GRCm39) missense possibly damaging 0.86
R7993:Nectin4 UTSW 1 171,211,322 (GRCm39) missense probably damaging 1.00
R8029:Nectin4 UTSW 1 171,214,255 (GRCm39) missense probably benign 0.04
R8306:Nectin4 UTSW 1 171,211,325 (GRCm39) missense probably null 1.00
R8314:Nectin4 UTSW 1 171,212,295 (GRCm39) missense probably benign 0.44
R8475:Nectin4 UTSW 1 171,212,280 (GRCm39) nonsense probably null
R8807:Nectin4 UTSW 1 171,211,282 (GRCm39) missense probably damaging 1.00
R9054:Nectin4 UTSW 1 171,214,351 (GRCm39) missense probably damaging 1.00
R9383:Nectin4 UTSW 1 171,213,251 (GRCm39) missense probably damaging 1.00
R9526:Nectin4 UTSW 1 171,210,209 (GRCm39) nonsense probably null
R9580:Nectin4 UTSW 1 171,211,324 (GRCm39) missense probably damaging 1.00
R9667:Nectin4 UTSW 1 171,210,165 (GRCm39) missense probably damaging 1.00
R9782:Nectin4 UTSW 1 171,214,192 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16