Incidental Mutation 'IGL03065:Nxpe2'
ID 409635
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nxpe2
Ensembl Gene ENSMUSG00000032028
Gene Name neurexophilin and PC-esterase domain family, member 2
Synonyms Fam55b, 4432416J03Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # IGL03065
Quality Score
Status
Chromosome 9
Chromosomal Location 48229303-48264749 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 48230992 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 459 (N459I)
Ref Sequence ENSEMBL: ENSMUSP00000034527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034527] [ENSMUST00000135457] [ENSMUST00000215780] [ENSMUST00000216998]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000034527
AA Change: N459I

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000034527
Gene: ENSMUSG00000032028
AA Change: N459I

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 A G 8: 84,665,143 (GRCm39) M1322V possibly damaging Het
Adprh C T 16: 38,266,396 (GRCm39) V249I probably benign Het
Afg2a T C 3: 37,486,328 (GRCm39) V350A possibly damaging Het
Als2 T C 1: 59,255,031 (GRCm39) S109G probably benign Het
Bpifa1 T A 2: 153,989,562 (GRCm39) N250K probably damaging Het
Capn9 A C 8: 125,332,298 (GRCm39) Y423S probably damaging Het
Cd200r1 T G 16: 44,614,645 (GRCm39) V308G probably benign Het
Cic T C 7: 24,985,246 (GRCm39) probably benign Het
Col5a1 T A 2: 27,922,757 (GRCm39) I275N possibly damaging Het
Col6a4 C A 9: 105,918,363 (GRCm39) probably benign Het
Cpeb1 T C 7: 81,086,038 (GRCm39) R35G probably benign Het
Cul1 A G 6: 47,472,015 (GRCm39) Y52C probably damaging Het
Dctn1 T C 6: 83,169,475 (GRCm39) F496L probably damaging Het
Dock11 G T X: 35,310,699 (GRCm39) probably benign Het
Eaf2 C T 16: 36,648,484 (GRCm39) R12H probably benign Het
Gcc1 T A 6: 28,418,401 (GRCm39) Q644L possibly damaging Het
Gm44865 C T 7: 108,165,004 (GRCm39) probably benign Het
Golgb1 C T 16: 36,733,228 (GRCm39) S825L probably benign Het
Gstp3 C T 19: 4,108,730 (GRCm39) probably null Het
Heph T A X: 95,571,173 (GRCm39) I669N probably benign Het
Il12rb1 A T 8: 71,273,202 (GRCm39) Y635F possibly damaging Het
Ing3 G A 6: 21,971,221 (GRCm39) A331T probably benign Het
Ipo8 T A 6: 148,686,205 (GRCm39) I762F probably benign Het
Itpr3 G A 17: 27,310,907 (GRCm39) R510Q probably damaging Het
Kif16b A G 2: 142,461,833 (GRCm39) Y1273H probably damaging Het
Map3k14 T C 11: 103,115,927 (GRCm39) E784G probably damaging Het
Mpdz A T 4: 81,210,802 (GRCm39) N1694K probably damaging Het
Myh13 T C 11: 67,235,679 (GRCm39) F648S probably damaging Het
Myh4 A G 11: 67,149,982 (GRCm39) H1847R probably benign Het
Ncoa7 T A 10: 30,523,993 (GRCm39) D840V probably damaging Het
Or4d10c C A 19: 12,065,975 (GRCm39) L60F possibly damaging Het
Or4k2 C A 14: 50,424,465 (GRCm39) D70Y probably damaging Het
Or4k47 T C 2: 111,451,535 (GRCm39) K295E probably damaging Het
Ovgp1 T C 3: 105,893,682 (GRCm39) F485S probably benign Het
Parp4 G T 14: 56,875,326 (GRCm39) A1182S probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Pla2g15 G A 8: 106,886,851 (GRCm39) R114H probably benign Het
Plppr3 T A 10: 79,701,880 (GRCm39) T321S probably benign Het
Rnf113a1 A G X: 36,455,748 (GRCm39) D235G probably benign Het
Rsrp1 A G 4: 134,651,700 (GRCm39) T155A possibly damaging Het
Simc1 G T 13: 54,685,025 (GRCm39) C87F probably damaging Het
Slco1a5 A G 6: 142,194,569 (GRCm39) probably benign Het
Slco1a8 C A 6: 141,938,228 (GRCm39) L230F probably damaging Het
Smyd5 A G 6: 85,419,146 (GRCm39) D276G possibly damaging Het
Tmem132c A G 5: 127,640,688 (GRCm39) Y953C probably damaging Het
Trank1 T A 9: 111,219,361 (GRCm39) S2033T possibly damaging Het
Trim69 A G 2: 122,009,115 (GRCm39) T392A probably damaging Het
Tsks T C 7: 44,592,724 (GRCm39) V6A probably damaging Het
Yjefn3 A G 8: 70,342,206 (GRCm39) probably benign Het
Zfp263 T G 16: 3,564,344 (GRCm39) D211E probably benign Het
Zfp994 A T 17: 22,421,661 (GRCm39) F51L probably damaging Het
Znfx1 A T 2: 166,897,685 (GRCm39) M413K probably benign Het
Other mutations in Nxpe2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01414:Nxpe2 APN 9 48,231,923 (GRCm39) missense probably benign 0.00
IGL01830:Nxpe2 APN 9 48,237,794 (GRCm39) missense probably damaging 1.00
IGL02039:Nxpe2 APN 9 48,230,959 (GRCm39) missense probably benign 0.11
IGL02618:Nxpe2 APN 9 48,237,634 (GRCm39) missense probably damaging 1.00
IGL03128:Nxpe2 APN 9 48,230,798 (GRCm39) missense probably benign 0.12
P4717OSA:Nxpe2 UTSW 9 48,237,677 (GRCm39) missense probably benign 0.08
R0019:Nxpe2 UTSW 9 48,231,080 (GRCm39) missense probably benign 0.37
R0172:Nxpe2 UTSW 9 48,231,209 (GRCm39) missense possibly damaging 0.76
R0255:Nxpe2 UTSW 9 48,251,870 (GRCm39) critical splice donor site probably null
R0415:Nxpe2 UTSW 9 48,237,914 (GRCm39) missense probably damaging 0.99
R1061:Nxpe2 UTSW 9 48,237,663 (GRCm39) missense probably damaging 1.00
R1248:Nxpe2 UTSW 9 48,231,211 (GRCm39) missense possibly damaging 0.46
R1311:Nxpe2 UTSW 9 48,237,914 (GRCm39) missense probably damaging 0.99
R1393:Nxpe2 UTSW 9 48,237,914 (GRCm39) missense probably damaging 0.99
R1827:Nxpe2 UTSW 9 48,237,914 (GRCm39) missense probably damaging 0.99
R1828:Nxpe2 UTSW 9 48,237,914 (GRCm39) missense probably damaging 0.99
R1831:Nxpe2 UTSW 9 48,237,452 (GRCm39) missense probably benign 0.01
R1866:Nxpe2 UTSW 9 48,238,121 (GRCm39) missense probably benign 0.01
R1889:Nxpe2 UTSW 9 48,237,914 (GRCm39) missense probably damaging 0.99
R1892:Nxpe2 UTSW 9 48,237,914 (GRCm39) missense probably damaging 0.99
R1903:Nxpe2 UTSW 9 48,230,906 (GRCm39) missense probably benign 0.40
R1928:Nxpe2 UTSW 9 48,237,914 (GRCm39) missense probably damaging 0.99
R1959:Nxpe2 UTSW 9 48,231,026 (GRCm39) missense probably benign 0.06
R4594:Nxpe2 UTSW 9 48,230,782 (GRCm39) missense probably damaging 1.00
R4697:Nxpe2 UTSW 9 48,231,821 (GRCm39) missense probably benign 0.03
R4909:Nxpe2 UTSW 9 48,230,897 (GRCm39) missense possibly damaging 0.93
R5048:Nxpe2 UTSW 9 48,237,388 (GRCm39) splice site probably null
R5372:Nxpe2 UTSW 9 48,250,819 (GRCm39) missense possibly damaging 0.66
R5614:Nxpe2 UTSW 9 48,234,401 (GRCm39) missense probably benign 0.30
R5762:Nxpe2 UTSW 9 48,230,875 (GRCm39) missense probably benign 0.02
R6151:Nxpe2 UTSW 9 48,237,491 (GRCm39) missense probably benign 0.01
R6958:Nxpe2 UTSW 9 48,237,566 (GRCm39) missense probably damaging 1.00
R7130:Nxpe2 UTSW 9 48,250,837 (GRCm39) missense probably benign 0.00
R7138:Nxpe2 UTSW 9 48,232,006 (GRCm39) missense probably damaging 1.00
R7250:Nxpe2 UTSW 9 48,238,096 (GRCm39) missense possibly damaging 0.77
R7289:Nxpe2 UTSW 9 48,234,339 (GRCm39) critical splice donor site probably null
R7949:Nxpe2 UTSW 9 48,234,397 (GRCm39) missense possibly damaging 0.83
R7973:Nxpe2 UTSW 9 48,231,168 (GRCm39) missense probably damaging 0.99
R8327:Nxpe2 UTSW 9 48,231,059 (GRCm39) missense probably benign 0.01
R8725:Nxpe2 UTSW 9 48,238,073 (GRCm39) missense probably benign 0.01
R8727:Nxpe2 UTSW 9 48,238,073 (GRCm39) missense probably benign 0.01
R9085:Nxpe2 UTSW 9 48,250,872 (GRCm39) missense probably benign 0.11
R9577:Nxpe2 UTSW 9 48,237,632 (GRCm39) nonsense probably null
Posted On 2016-08-02