Incidental Mutation 'IGL03013:Nxph2'
ID407861
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nxph2
Ensembl Gene ENSMUSG00000069132
Gene Nameneurexophilin 2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #IGL03013
Quality Score
Status
Chromosome2
Chromosomal Location23321246-23401973 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 23399933 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 99 (I99T)
Ref Sequence ENSEMBL: ENSMUSP00000100009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102945]
Predicted Effect probably benign
Transcript: ENSMUST00000102945
AA Change: I99T

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000100009
Gene: ENSMUSG00000069132
AA Change: I99T

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Neurexophilin 50 261 7.9e-99 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1b A G 15: 101,203,078 R374G probably damaging Het
B3galt6 G A 4: 155,991,758 Q287* probably null Het
C2 A G 17: 34,872,459 V353A probably damaging Het
Cntnap2 A T 6: 47,095,549 Y1017F possibly damaging Het
Copz1 T A 15: 103,296,568 M118K probably benign Het
Dnm1 T C 2: 32,336,284 N298D probably benign Het
Exog T C 9: 119,462,613 S295P possibly damaging Het
Ext2 A T 2: 93,707,226 probably benign Het
Fam71e2 A G 7: 4,758,633 L360S probably benign Het
Gm16427 A T 5: 93,482,532 S394T probably damaging Het
Gpatch8 T C 11: 102,508,197 I70V unknown Het
Krt5 T A 15: 101,711,668 I205L probably benign Het
Leng9 A G 7: 4,148,738 V313A probably damaging Het
Macrod2 A G 2: 141,515,227 I148V probably benign Het
Mapk14 G T 17: 28,728,349 probably benign Het
Mfsd4b3 A T 10: 39,947,895 M123K probably benign Het
Mmp8 A G 9: 7,561,689 D205G probably benign Het
Muc5b A T 7: 141,863,928 H3537L possibly damaging Het
Nde1 C T 16: 14,191,747 P324L probably benign Het
Nlrp9b A T 7: 20,048,825 H888L probably damaging Het
Npy2r A G 3: 82,540,512 F319L probably damaging Het
Nup210 A G 6: 91,053,379 V156A probably benign Het
Parpbp A G 10: 88,139,978 I91T probably damaging Het
Pld2 A G 11: 70,541,177 Y75C probably damaging Het
Pramef8 A G 4: 143,417,467 T128A possibly damaging Het
Prkcb C A 7: 122,627,682 D630E probably damaging Het
Prl3c1 T C 13: 27,199,366 V5A probably benign Het
Sdcbp2 A G 2: 151,587,335 T192A probably benign Het
Sema6a C T 18: 47,248,394 A1046T probably benign Het
Serpinb3a A G 1: 107,046,083 F366S probably damaging Het
Serpinb9d T A 13: 33,196,538 W136R probably damaging Het
Smc2 G T 4: 52,442,280 V66F probably damaging Het
Speg A G 1: 75,431,279 D3206G probably damaging Het
Syne2 C T 12: 75,929,337 A1187V probably benign Het
Trove2 A G 1: 143,770,708 S100P probably damaging Het
Unc5cl G A 17: 48,465,021 M442I possibly damaging Het
Other mutations in Nxph2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00578:Nxph2 APN 2 23400322 missense probably damaging 1.00
IGL00655:Nxph2 APN 2 23400141 missense possibly damaging 0.53
IGL00861:Nxph2 APN 2 23399962 missense probably damaging 1.00
IGL01358:Nxph2 APN 2 23400074 missense probably damaging 1.00
IGL01733:Nxph2 APN 2 23400125 missense probably benign 0.00
IGL01983:Nxph2 APN 2 23399934 missense probably benign 0.32
IGL02739:Nxph2 APN 2 23399900 missense probably benign 0.06
IGL02983:Nxph2 APN 2 23400362 missense probably damaging 1.00
R4392:Nxph2 UTSW 2 23400272 missense probably damaging 0.99
R4796:Nxph2 UTSW 2 23399858 missense probably benign 0.00
R4877:Nxph2 UTSW 2 23399834 missense probably benign 0.00
R5038:Nxph2 UTSW 2 23321544 splice site probably null
R8057:Nxph2 UTSW 2 23400095 missense possibly damaging 0.89
RF004:Nxph2 UTSW 2 23400068 missense probably damaging 1.00
Z1088:Nxph2 UTSW 2 23400217 missense probably benign 0.10
Posted On2016-08-02