Incidental Mutation 'IGL01414:Nxpe2'
ID80175
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: 0.075) question?
Stock #IGL01414
Quality Score
Status
Chromosome9
Chromosomal Location48318006-48353454 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 48320623 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 345 (F345L)
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: F345L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000034527
Gene: ENSMUSG00000032028
AA Change: F345L

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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn C T 4: 156,195,239 probably null Het
Arhgap45 T A 10: 80,027,104 S705T probably damaging Het
B4galt4 A G 16: 38,757,791 E200G probably damaging Het
Cdh12 A T 15: 21,492,689 N265Y probably damaging Het
Cerk T A 15: 86,159,142 T153S probably benign Het
Ddx58 C A 4: 40,222,176 V368F probably damaging Het
Ect2 A T 3: 27,127,729 probably benign Het
Ep300 T A 15: 81,627,266 probably benign Het
Gm26920 T G 7: 30,068,078 probably benign Het
Ighv1-66 T C 12: 115,593,309 Y51C probably benign Het
Ints1 T C 5: 139,758,498 D1503G probably benign Het
Lhpp A G 7: 132,642,520 K189E probably damaging Het
Myh13 A G 11: 67,342,472 T606A probably benign Het
Naip1 T C 13: 100,409,173 probably null Het
Nckap5 G T 1: 126,528,713 Q38K probably damaging Het
Nlgn3 A G X: 101,302,260 I93V probably benign Het
Pcdhb22 A G 18: 37,519,496 N339S probably damaging Het
Rbbp7 T A X: 162,774,581 I322N probably damaging Het
Rprd2 A T 3: 95,765,525 F855L probably damaging Het
Scin A T 12: 40,124,699 H128Q probably damaging Het
Sema4g A G 19: 44,997,996 Y337C probably damaging Het
Stx6 C T 1: 155,201,945 R233C possibly damaging Het
Supt16 C T 14: 52,177,032 E438K probably benign Het
Trem3 G T 17: 48,249,815 V105L probably benign Het
Vmn2r108 T A 17: 20,471,680 M194L probably benign Het
Zfyve16 A T 13: 92,522,196 D402E probably benign Het
Other mutations in Nxpe2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03128:Nxpe2 APN 9 48319498 missense probably benign 0.12
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 On2013-11-05