Incidental Mutation 'IGL03383:Nxpe3'
ID420763
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nxpe3
Ensembl Gene ENSMUSG00000075033
Gene Nameneurexophilin and PC-esterase domain family, member 3
SynonymsFam55c, LOC208684, LOC385658
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock #IGL03383
Quality Score
Status
Chromosome16
Chromosomal Location55839953-55895285 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 55849713 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 343 (D343G)
Ref Sequence ENSEMBL: ENSMUSP00000097296 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099705]
Predicted Effect probably benign
Transcript: ENSMUST00000099705
AA Change: D343G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000097296
Gene: ENSMUSG00000075033
AA Change: D343G

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Pfam:Neurexophilin 73 284 2.9e-64 PFAM
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 neurexophilin family of neuropeptide-like glycoproteins. The encoded protein contains a variable N-terminal domain, a highly conserved neurexophilin and PC-esterase (NXPE) central domain, a short linker region, and a cysteine-rich C-terminal domain. This protein binds alpha neurexins, a group of presynaptic transmembrane receptors that promote adhesion between dendrites and axons. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl4 C T 4: 111,657,423 probably benign Het
Cit T C 5: 115,873,845 probably benign Het
Clmp A G 9: 40,774,441 N211S probably damaging Het
Cnot2 A G 10: 116,494,817 probably benign Het
Cntn6 A G 6: 104,776,457 probably benign Het
Dnajb9 C T 12: 44,208,313 probably benign Het
Ece2 T A 16: 20,633,097 N411K possibly damaging Het
Fam208a A G 14: 27,441,961 I235V possibly damaging Het
Fshr A G 17: 89,046,699 I77T possibly damaging Het
Fshr A G 17: 88,985,693 M519T probably damaging Het
Gm10654 G A 8: 70,932,131 noncoding transcript Het
Gm5093 A G 17: 46,439,591 I170T probably benign Het
Meis3 A G 7: 16,183,819 K299R probably damaging Het
Nxf1 T C 19: 8,763,697 F15L probably damaging Het
Olfr1246 A T 2: 89,590,312 Y268N probably benign Het
Polr3k A G 2: 181,866,027 T65A probably damaging Het
Preb A T 5: 30,958,321 W222R probably damaging Het
Psmd11 T C 11: 80,469,845 I56T probably damaging Het
Rtkn2 A G 10: 68,017,837 T232A probably damaging Het
Scaf11 T C 15: 96,420,183 probably null Het
Slc4a10 A T 2: 62,267,436 K493M probably damaging Het
Stard10 A G 7: 101,342,570 K112E probably damaging Het
Sugp1 A T 8: 70,069,567 probably benign Het
Tmem156 T C 5: 65,075,697 E139G probably damaging Het
Tubd1 C T 11: 86,549,008 probably benign Het
Uap1 G A 1: 170,158,891 T174M probably damaging Het
Vmn2r13 T C 5: 109,156,532 T678A probably damaging Het
Vmn2r84 A T 10: 130,386,687 C555S probably damaging Het
Vps13d T C 4: 145,168,319 probably null Het
Vps8 T C 16: 21,435,823 probably null Het
Wee1 A G 7: 110,139,692 N590S probably damaging Het
Zfp112 C A 7: 24,125,678 S357Y probably damaging Het
Zfp423 T A 8: 87,859,452 K48* probably null Het
Zscan4d A G 7: 11,162,765 V226A probably benign Het
Other mutations in Nxpe3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00840:Nxpe3 APN 16 55844232 missense probably damaging 0.98
IGL01743:Nxpe3 APN 16 55849765 missense probably benign 0.00
IGL02355:Nxpe3 APN 16 55890586 missense probably benign 0.11
IGL02362:Nxpe3 APN 16 55890586 missense probably benign 0.11
IGL02750:Nxpe3 APN 16 55860375 missense probably benign 0.21
IGL02792:Nxpe3 APN 16 55866172 missense probably damaging 0.98
R0126:Nxpe3 UTSW 16 55866229 missense possibly damaging 0.94
R0348:Nxpe3 UTSW 16 55866535 missense probably benign 0.01
R0526:Nxpe3 UTSW 16 55866517 missense possibly damaging 0.86
R1752:Nxpe3 UTSW 16 55866474 missense probably benign
R1830:Nxpe3 UTSW 16 55866081 missense probably damaging 1.00
R2285:Nxpe3 UTSW 16 55866225 missense probably damaging 1.00
R3196:Nxpe3 UTSW 16 55849715 missense probably damaging 0.99
R4863:Nxpe3 UTSW 16 55849633 missense probably damaging 1.00
R4922:Nxpe3 UTSW 16 55860324 missense probably benign
R5308:Nxpe3 UTSW 16 55866471 missense probably benign 0.43
R5338:Nxpe3 UTSW 16 55866343 missense possibly damaging 0.52
R5539:Nxpe3 UTSW 16 55890671 missense possibly damaging 0.92
R5780:Nxpe3 UTSW 16 55866441 missense probably damaging 1.00
R5877:Nxpe3 UTSW 16 55866201 missense probably damaging 1.00
R6769:Nxpe3 UTSW 16 55866108 missense probably damaging 1.00
R6771:Nxpe3 UTSW 16 55866108 missense probably damaging 1.00
R6841:Nxpe3 UTSW 16 55844322 missense possibly damaging 0.65
R7660:Nxpe3 UTSW 16 55844327 missense probably damaging 0.96
Z1177:Nxpe3 UTSW 16 55866222 missense probably damaging 1.00
Posted On2016-08-02