Incidental Mutation 'IGL03128:Nxpe2'
ID410209
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nxpe2
Ensembl Gene ENSMUSG00000032028
Gene Nameneurexophilin and PC-esterase domain family, member 2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.079) question?
Stock #IGL03128
Quality Score
Status
Chromosome9
Chromosomal Location48318006-48353454 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 48319498 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 524 (I524V)
Ref Sequence ENSEMBL: ENSMUSP00000034527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034527] [ENSMUST00000135457] [ENSMUST00000215780] [ENSMUST00000216998]
Predicted Effect probably benign
Transcript: ENSMUST00000034527
AA Change: I524V

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000034527
Gene: ENSMUSG00000032028
AA Change: I524V

DomainStartEndE-ValueType
transmembrane domain 22 39 N/A INTRINSIC
Pfam:Neurexophilin 80 277 1.2e-18 PFAM
low complexity region 307 316 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000135457
Predicted Effect probably benign
Transcript: ENSMUST00000215780
Predicted Effect probably benign
Transcript: ENSMUST00000216998
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox1 A T 11: 116,182,003 L114M probably damaging Het
Bahcc1 G A 11: 120,268,434 probably benign Het
Btrc T A 19: 45,513,520 I226N probably damaging Het
Cth C T 3: 157,921,035 G56D probably damaging Het
Dkk2 T C 3: 132,177,860 probably benign Het
Dock3 A T 9: 107,032,292 M271K probably benign Het
Fam78b T A 1: 167,078,941 L223Q probably damaging Het
Fgl2 A T 5: 21,373,293 M193L probably benign Het
Ifi205 A T 1: 174,015,086 V348E probably damaging Het
Igkv4-70 T A 6: 69,268,014 K74N probably benign Het
Kdm3b A T 18: 34,827,427 K1355M probably damaging Het
Ltn1 A T 16: 87,415,944 N576K probably benign Het
Ms4a4c A T 19: 11,417,641 probably null Het
Nfic T C 10: 81,406,191 T328A probably benign Het
Npat T A 9: 53,550,033 probably benign Het
Orc5 G T 5: 22,516,773 D360E probably damaging Het
Pappa2 C T 1: 158,936,484 E486K probably benign Het
Pde9a C T 17: 31,459,910 H216Y possibly damaging Het
Polr2k C A 15: 36,174,191 P31Q probably damaging Het
Prkdc G T 16: 15,700,744 probably benign Het
Raver1 A T 9: 21,080,742 L385Q probably damaging Het
Slc10a7 C A 8: 78,525,217 T80K probably damaging Het
Smg1 T C 7: 118,203,059 K272R probably benign Het
Supt20 A G 3: 54,708,287 I200V probably benign Het
Tbc1d9 A G 8: 83,166,085 N4S probably benign Het
Tor1aip1 A G 1: 156,007,035 S356P probably damaging Het
Trpm3 A G 19: 22,914,465 Y903C probably damaging Het
Vmn2r71 T G 7: 85,619,587 F333V probably damaging Het
Other mutations in Nxpe2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01414:Nxpe2 APN 9 48320623 missense probably benign 0.00
IGL01830:Nxpe2 APN 9 48326494 missense probably damaging 1.00
IGL02039:Nxpe2 APN 9 48319659 missense probably benign 0.11
IGL02618:Nxpe2 APN 9 48326334 missense probably damaging 1.00
IGL03065:Nxpe2 APN 9 48319692 missense possibly damaging 0.68
P4717OSA:Nxpe2 UTSW 9 48326377 missense probably benign 0.08
R0019:Nxpe2 UTSW 9 48319780 missense probably benign 0.37
R0172:Nxpe2 UTSW 9 48319909 missense possibly damaging 0.76
R0255:Nxpe2 UTSW 9 48340570 critical splice donor site probably null
R0415:Nxpe2 UTSW 9 48326614 missense probably damaging 0.99
R1061:Nxpe2 UTSW 9 48326363 missense probably damaging 1.00
R1248:Nxpe2 UTSW 9 48319911 missense possibly damaging 0.46
R1311:Nxpe2 UTSW 9 48326614 missense probably damaging 0.99
R1393:Nxpe2 UTSW 9 48326614 missense probably damaging 0.99
R1827:Nxpe2 UTSW 9 48326614 missense probably damaging 0.99
R1828:Nxpe2 UTSW 9 48326614 missense probably damaging 0.99
R1831:Nxpe2 UTSW 9 48326152 missense probably benign 0.01
R1866:Nxpe2 UTSW 9 48326821 missense probably benign 0.01
R1889:Nxpe2 UTSW 9 48326614 missense probably damaging 0.99
R1892:Nxpe2 UTSW 9 48326614 missense probably damaging 0.99
R1903:Nxpe2 UTSW 9 48319606 missense probably benign 0.40
R1928:Nxpe2 UTSW 9 48326614 missense probably damaging 0.99
R1959:Nxpe2 UTSW 9 48319726 missense probably benign 0.06
R4594:Nxpe2 UTSW 9 48319482 missense probably damaging 1.00
R4697:Nxpe2 UTSW 9 48320521 missense probably benign 0.03
R4909:Nxpe2 UTSW 9 48319597 missense possibly damaging 0.93
R5048:Nxpe2 UTSW 9 48326088 splice site probably null
R5372:Nxpe2 UTSW 9 48339519 missense possibly damaging 0.66
R5614:Nxpe2 UTSW 9 48323101 missense probably benign 0.30
R5762:Nxpe2 UTSW 9 48319575 missense probably benign 0.02
R6151:Nxpe2 UTSW 9 48326191 missense probably benign 0.01
R6958:Nxpe2 UTSW 9 48326266 missense probably damaging 1.00
R7130:Nxpe2 UTSW 9 48339537 missense probably benign 0.00
R7138:Nxpe2 UTSW 9 48320706 missense probably damaging 1.00
R7250:Nxpe2 UTSW 9 48326796 missense possibly damaging 0.77
R7289:Nxpe2 UTSW 9 48323039 critical splice donor site probably null
Posted On2016-08-02