Incidental Mutation 'R0019:Nxpe2'
ID19047
Institutional Source Beutler Lab
Gene Symbol Nxpe2
Ensembl Gene ENSMUSG00000032028
Gene Nameneurexophilin and PC-esterase domain family, member 2
Synonyms
MMRRC Submission 038314-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.048) question?
Stock #R0019 (G1)
Quality Score
Status Validated
Chromosome9
Chromosomal Location48318006-48353454 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 48319780 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 430 (I430V)
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: I430V

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000034527
Gene: ENSMUSG00000032028
AA Change: I430V

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
Meta Mutation Damage Score 0.084 question?
Coding Region Coverage
  • 1x: 83.5%
  • 3x: 78.2%
  • 10x: 64.4%
  • 20x: 48.4%
Validation Efficiency 91% (93/102)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd13a T A 5: 114,786,081 probably benign Het
Arhgef12 A T 9: 42,978,233 W1029R probably damaging Het
Aunip T A 4: 134,523,512 L256* probably null Het
Bahcc1 T A 11: 120,289,771 M2607K probably damaging Het
Cacng6 G T 7: 3,431,868 M152I possibly damaging Het
Cep120 A G 18: 53,709,047 probably benign Het
D130043K22Rik T A 13: 24,880,812 V737D probably damaging Het
Dock10 A G 1: 80,605,925 S187P probably damaging Het
Eogt C T 6: 97,134,273 probably benign Het
Fasn A T 11: 120,807,998 probably benign Het
Frem2 C T 3: 53,523,678 V2745M probably damaging Het
Fshb T C 2: 107,057,345 S110G probably benign Het
Gpi1 A G 7: 34,220,899 Y144H probably damaging Het
Gsap T C 5: 21,270,622 probably benign Het
Helz2 C A 2: 181,232,759 G1981C probably damaging Het
Herc3 T C 6: 58,885,065 probably benign Het
Il1r2 C T 1: 40,125,050 T359M probably damaging Het
Il6st T C 13: 112,501,148 C563R possibly damaging Het
Irs1 T A 1: 82,287,256 K1080* probably null Het
Itpr1 T C 6: 108,354,626 V182A probably damaging Het
Kalrn C T 16: 34,198,514 probably benign Het
Kcnj11 G A 7: 46,098,939 A320V probably benign Het
Lrig1 T A 6: 94,607,349 R905* probably null Het
Lrrc43 T C 5: 123,501,315 L469P probably damaging Het
Med29 A T 7: 28,391,076 probably benign Het
Mroh7 T C 4: 106,721,426 I18M probably benign Het
Nalcn A C 14: 123,507,489 C376G probably benign Het
Ncor2 C T 5: 125,119,481 probably null Het
Nek1 T A 8: 61,089,734 M786K probably benign Het
Nrxn2 A G 19: 6,509,957 probably benign Het
Pcolce2 A G 9: 95,694,964 probably null Het
Pdcl A T 2: 37,351,920 L273M probably damaging Het
Pml A T 9: 58,220,493 S610R probably damaging Het
Polk C A 13: 96,504,616 R144S probably damaging Het
Rlf A G 4: 121,146,572 V1737A possibly damaging Het
Rubcnl T A 14: 75,048,263 probably benign Het
Scn3a A T 2: 65,461,701 V1567E probably damaging Het
Scyl2 A G 10: 89,659,321 I296T probably benign Het
Slc15a3 A G 19: 10,856,040 I474V probably damaging Het
Sstr1 T C 12: 58,213,149 L186S probably damaging Het
Tmem108 A T 9: 103,489,340 V484D possibly damaging Het
Trim69 A T 2: 122,174,477 probably null Het
Trim80 T G 11: 115,447,942 Y533D probably damaging Het
Uhrf1bp1l A G 10: 89,775,969 T5A probably damaging Het
Unc13b T C 4: 43,096,990 I121T possibly damaging Het
Usp40 T C 1: 87,978,411 T701A probably benign Het
Xpr1 A G 1: 155,332,399 probably benign Het
Ywhab T A 2: 164,016,170 I219N probably damaging Het
Zfp219 G T 14: 52,009,028 T169K 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
IGL03128:Nxpe2 APN 9 48319498 missense probably benign 0.12
P4717OSA:Nxpe2 UTSW 9 48326377 missense probably benign 0.08
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
Posted On2013-03-25