Incidental Mutation 'IGL03184:Nectin2'
ID412402
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nectin2
Ensembl Gene ENSMUSG00000062300
Gene Namenectin cell adhesion molecule 2
SynonymsMPH, nectin-2, Cd112, Pvs, Pvrl2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.189) question?
Stock #IGL03184
Quality Score
Status
Chromosome7
Chromosomal Location19716644-19750483 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 19738306 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 53 (P53S)
Ref Sequence ENSEMBL: ENSMUSP00000104089 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075447] [ENSMUST00000108450]
Predicted Effect possibly damaging
Transcript: ENSMUST00000075447
AA Change: P53S

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000074898
Gene: ENSMUSG00000062300
AA Change: P53S

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: P53S

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000104089
Gene: ENSMUSG00000062300
AA Change: P53S

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207271
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 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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,323,451 Y992H possibly damaging Het
Adcy7 T A 8: 88,308,643 D58E probably benign Het
Aff2 G A X: 69,767,234 V404M possibly damaging Het
Ankhd1 T A 18: 36,647,777 L1961M probably damaging Het
BC024978 A G 7: 27,197,007 probably benign Het
Brms1l T C 12: 55,868,277 *324Q probably null Het
Bub1b T C 2: 118,609,777 probably benign Het
Cacna1b A G 2: 24,658,489 probably null Het
Clrn1 T A 3: 58,846,224 T239S probably benign Het
Clta T C 4: 44,025,514 Y145H probably benign Het
Coro6 T C 11: 77,463,953 V14A probably damaging Het
Cyp4a30b A G 4: 115,459,019 D314G probably damaging Het
Fn1 T C 1: 71,609,497 N1418D probably benign Het
Fshr A C 17: 89,046,640 L97V possibly damaging Het
Gcm2 T C 13: 41,105,412 Q152R probably damaging Het
Gcnt2 A G 13: 40,888,184 N273S probably benign Het
Gm11437 A T 11: 84,156,264 probably benign Het
Gm4559 A G 7: 142,274,309 S19P unknown Het
Igsf8 T G 1: 172,318,632 I462R probably damaging Het
Kirrel3 T C 9: 35,007,756 F243S probably damaging Het
Krt80 C T 15: 101,352,254 V37M probably damaging Het
Lama4 T C 10: 39,078,843 Y1131H probably damaging Het
Mrpl21 T C 19: 3,292,529 probably benign Het
Mtcl1 T C 17: 66,354,214 N923S probably benign Het
Nup98 G A 7: 102,183,545 T335I probably damaging Het
Olfr1247 T C 2: 89,609,568 D178G probably damaging Het
Olfr1391 C A 11: 49,327,741 T110K probably damaging Het
Olfr1507 A G 14: 52,490,923 S14P probably benign Het
Olfr643 T A 7: 104,058,847 I252F probably damaging Het
Olfr822 T C 10: 130,074,758 M116T possibly damaging Het
Pcdhb14 A G 18: 37,449,032 E397G probably benign Het
Pcgf5 T G 19: 36,434,676 probably benign Het
Pclo C T 5: 14,714,443 P1025L probably damaging Het
Pdcd1lg2 C A 19: 29,454,511 F226L probably benign Het
Pik3ca T A 3: 32,439,886 S332R probably benign Het
Plek A T 11: 16,981,887 D321E probably benign Het
Pm20d2 A G 4: 33,179,241 F333L probably damaging Het
Polk T C 13: 96,483,983 T570A probably benign Het
Rpgrip1l G A 8: 91,300,809 L201F probably damaging Het
Serpinb2 T A 1: 107,524,877 L395H probably damaging Het
Slc9c1 T G 16: 45,547,640 S197R probably damaging Het
Smg1 T A 7: 118,180,380 E1264V possibly damaging Het
Sned1 A G 1: 93,274,668 D678G probably benign Het
Sorcs2 A G 5: 36,031,212 S851P probably benign Het
Srcap A G 7: 127,530,502 probably benign Het
Tbck T C 3: 132,736,103 Y557H probably damaging Het
Tfap2d T C 1: 19,118,886 S219P probably damaging Het
Trim9 T C 12: 70,251,221 D570G probably damaging Het
Usp25 A G 16: 77,081,653 Y655C probably damaging Het
Utrn T A 10: 12,710,166 T956S probably benign Het
Vmn1r68 T A 7: 10,527,872 I100F probably benign Het
Vps13a A T 19: 16,654,370 S2634T probably benign Het
Zfp472 T A 17: 32,977,416 L155* probably null Het
Zfp808 A G 13: 62,169,567 I43M possibly damaging Het
Other mutations in Nectin2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01982:Nectin2 APN 7 19717562 missense probably damaging 1.00
PIT4458001:Nectin2 UTSW 7 19738327 missense probably benign 0.19
R0012:Nectin2 UTSW 7 19730744 splice site probably benign
R0012:Nectin2 UTSW 7 19730744 splice site probably benign
R0555:Nectin2 UTSW 7 19733223 splice site probably benign
R0764:Nectin2 UTSW 7 19749171 intron probably null
R1252:Nectin2 UTSW 7 19717598 missense probably benign 0.18
R1465:Nectin2 UTSW 7 19730116 missense probably benign
R1465:Nectin2 UTSW 7 19730116 missense probably benign
R1833:Nectin2 UTSW 7 19717708 missense probably damaging 0.96
R2115:Nectin2 UTSW 7 19717564 missense probably damaging 0.98
R2168:Nectin2 UTSW 7 19730614 missense probably damaging 0.98
R3801:Nectin2 UTSW 7 19717636 missense probably benign
R3825:Nectin2 UTSW 7 19724585 missense possibly damaging 0.94
R4877:Nectin2 UTSW 7 19717720 missense possibly damaging 0.55
R5062:Nectin2 UTSW 7 19738273 missense probably benign 0.09
R5082:Nectin2 UTSW 7 19738124 missense probably damaging 0.99
R5693:Nectin2 UTSW 7 19724869 missense probably benign 0.00
R6042:Nectin2 UTSW 7 19738138 missense probably benign 0.01
R6060:Nectin2 UTSW 7 19717775 missense probably damaging 1.00
R6657:Nectin2 UTSW 7 19738140 missense probably benign 0.41
Posted On2016-08-02