Incidental Mutation 'R7250:Nxpe2'
ID 563847
Institutional Source Beutler Lab
Gene Symbol Nxpe2
Ensembl Gene ENSMUSG00000032028
Gene Name neurexophilin and PC-esterase domain family, member 2
Synonyms Fam55b, 4432416J03Rik
MMRRC Submission 045350-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R7250 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 48229303-48264749 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 48238096 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 53 (I53N)
Ref Sequence ENSEMBL: ENSMUSP00000034527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034527] [ENSMUST00000135457] [ENSMUST00000137976] [ENSMUST00000215780] [ENSMUST00000216998]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000034527
AA Change: I53N

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000034527
Gene: ENSMUSG00000032028
AA Change: I53N

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 possibly damaging
Transcript: ENSMUST00000137976
AA Change: I53N

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000116684
Gene: ENSMUSG00000032028
AA Change: I53N

DomainStartEndE-ValueType
transmembrane domain 22 39 N/A INTRINSIC
Pfam:Neurexophilin 99 187 2.1e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215780
Predicted Effect probably benign
Transcript: ENSMUST00000216998
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930480E11Rik G T X: 77,414,311 (GRCm39) M345I probably benign Het
Actl7b T A 4: 56,741,035 (GRCm39) M108L probably benign Het
Adgrf3 T A 5: 30,400,680 (GRCm39) I934L probably damaging Het
Adprm A G 11: 66,932,450 (GRCm39) V153A probably benign Het
Aif1l G A 2: 31,859,764 (GRCm39) V109M probably damaging Het
Asphd1 T A 7: 126,545,942 (GRCm39) E307V probably damaging Het
Ate1 T A 7: 130,121,701 (GRCm39) probably benign Het
Borcs7 A G 19: 46,688,047 (GRCm39) H64R probably damaging Het
C1qtnf1 A G 11: 118,339,176 (GRCm39) *282W probably null Het
Cacna1c A G 6: 118,574,966 (GRCm39) C1985R Het
Cacna1c A T 6: 118,673,412 (GRCm39) V647E Het
Cacna1d A G 14: 29,797,108 (GRCm39) S1497P probably damaging Het
Cacna1e T A 1: 154,576,235 (GRCm39) I133F possibly damaging Het
Ccdc63 A T 5: 122,260,906 (GRCm39) L206H probably damaging Het
Cenatac A G 9: 44,323,748 (GRCm39) probably null Het
Cspg4b T G 13: 113,455,349 (GRCm39) I465R Het
D430041D05Rik T C 2: 104,086,961 (GRCm39) T672A possibly damaging Het
D630045J12Rik G T 6: 38,119,546 (GRCm39) T1732K possibly damaging Het
D930020B18Rik T C 10: 121,507,736 (GRCm39) I158T probably damaging Het
Ddx52 G A 11: 83,835,392 (GRCm39) G106D probably benign Het
Dock2 A G 11: 34,586,032 (GRCm39) V550A probably benign Het
Dock2 C T 11: 34,586,120 (GRCm39) D521N probably damaging Het
F13b T C 1: 139,444,227 (GRCm39) probably null Het
Fchsd2 A G 7: 100,908,892 (GRCm39) K431R possibly damaging Het
Fez1 C T 9: 36,779,090 (GRCm39) R256C probably damaging Het
Gjd4 T A 18: 9,280,391 (GRCm39) Q229L probably benign Het
Gpr45 T A 1: 43,071,531 (GRCm39) I58N probably damaging Het
Gstm1 T A 3: 107,923,709 (GRCm39) I99F probably damaging Het
Gtpbp8 T A 16: 44,564,225 (GRCm39) T149S probably damaging Het
H2-Ab1 A G 17: 34,486,481 (GRCm39) D180G probably damaging Het
Hdhd5 A G 6: 120,494,016 (GRCm39) I188T possibly damaging Het
Hfm1 T C 5: 107,052,197 (GRCm39) I300V probably benign Het
Hnrnpr T G 4: 136,059,746 (GRCm39) D283E probably benign Het
Hsp90b1 T C 10: 86,527,572 (GRCm39) E768G unknown Het
Kcna4 C A 2: 107,126,663 (GRCm39) Q466K possibly damaging Het
Kcnk6 A G 7: 28,931,619 (GRCm39) L97P probably benign Het
Kics2 T C 10: 121,581,376 (GRCm39) S126P possibly damaging Het
Klf5 A G 14: 99,536,455 (GRCm39) S9G probably benign Het
Kmt2c C A 5: 25,504,489 (GRCm39) K3606N probably damaging Het
Kmt2c T C 5: 25,514,805 (GRCm39) T3013A probably benign Het
Lancl1 A G 1: 67,048,458 (GRCm39) Y207H possibly damaging Het
Lipe G C 7: 25,088,085 (GRCm39) probably benign Het
Lrrc66 T A 5: 73,768,224 (GRCm39) H239L probably benign Het
Ltbp2 C T 12: 84,834,166 (GRCm39) W1441* probably null Het
Man2a1 T C 17: 64,943,583 (GRCm39) S213P probably benign Het
Mapre2 C T 18: 23,991,119 (GRCm39) A171V possibly damaging Het
Mdn1 T A 4: 32,695,427 (GRCm39) D1155E probably damaging Het
Mki67 T C 7: 135,301,053 (GRCm39) D1327G possibly damaging Het
Mx2 T C 16: 97,348,664 (GRCm39) I279T probably damaging Het
Myo5c A G 9: 75,169,497 (GRCm39) T441A probably damaging Het
Nlrp9a T G 7: 26,258,143 (GRCm39) V587G possibly damaging Het
Npas2 A T 1: 39,377,188 (GRCm39) T517S probably damaging Het
Npy1r T C 8: 67,157,712 (GRCm39) S341P probably benign Het
Ntm A G 9: 29,322,988 (GRCm39) W11R probably benign Het
Onecut2 T C 18: 64,519,511 (GRCm39) F443L probably benign Het
Or10g6 T A 9: 39,934,050 (GRCm39) Y120* probably null Het
Or2r2 A G 6: 42,463,689 (GRCm39) V146A probably benign Het
Or52ac1 A T 7: 104,245,738 (GRCm39) Y217N probably damaging Het
Parp2 T A 14: 51,054,801 (GRCm39) V248E probably benign Het
Pcdh12 C A 18: 38,415,029 (GRCm39) V699L probably benign Het
Pja2 G A 17: 64,616,451 (GRCm39) P148L probably benign Het
Poglut3 C T 9: 53,301,821 (GRCm39) Q158* probably null Het
Ppip5k2 T G 1: 97,673,187 (GRCm39) D415A probably benign Het
Prss47 A G 13: 65,200,355 (GRCm39) S74P probably benign Het
Ptprg G T 14: 12,166,767 (GRCm38) M723I probably benign Het
Qsox2 A T 2: 26,118,444 (GRCm39) I109N probably damaging Het
Ranbp3l A G 15: 9,041,853 (GRCm39) E217G probably benign Het
Rgl2 C T 17: 34,152,403 (GRCm39) R367W probably damaging Het
Rgs12 T A 5: 35,122,841 (GRCm39) F208Y probably damaging Het
Rin3 C T 12: 102,334,893 (GRCm39) T268I unknown Het
Rttn T A 18: 89,007,647 (GRCm39) D427E probably benign Het
Samd13 G A 3: 146,352,079 (GRCm39) P91S probably benign Het
Samd9l T C 6: 3,374,201 (GRCm39) D1020G possibly damaging Het
Sec62 T G 3: 30,866,496 (GRCm39) L201V possibly damaging Het
Setdb1 C T 3: 95,261,852 (GRCm39) probably null Het
Sf3a3 A T 4: 124,616,708 (GRCm39) T197S probably benign Het
Slc20a1 A T 2: 129,051,844 (GRCm39) I618F possibly damaging Het
Slc38a3 A T 9: 107,533,865 (GRCm39) M186K probably benign Het
Slc39a13 T C 2: 90,893,503 (GRCm39) T319A probably benign Het
Slc44a4 T C 17: 35,137,520 (GRCm39) probably null Het
St3gal1 A C 15: 66,978,578 (GRCm39) D314E possibly damaging Het
Suclg1 A G 6: 73,248,074 (GRCm39) N265S probably benign Het
Sult2b1 A T 7: 45,433,361 (GRCm39) V2D unknown Het
Supv3l1 T A 10: 62,280,846 (GRCm39) I182F probably damaging Het
Tcp11l2 T C 10: 84,423,105 (GRCm39) probably null Het
Tenm2 C A 11: 35,963,625 (GRCm39) L935F probably damaging Het
Tnks T A 8: 35,318,912 (GRCm39) I790F probably damaging Het
Top2b C T 14: 16,420,411 (GRCm38) T1274I probably benign Het
Tpi1 A T 6: 124,789,441 (GRCm39) I178N probably damaging Het
Trav9d-1 A T 14: 53,030,153 (GRCm39) S86C probably damaging Het
Treml2 A G 17: 48,616,155 (GRCm39) E265G probably benign Het
Trpm7 A T 2: 126,668,685 (GRCm39) S744T possibly damaging Het
Usp33 T A 3: 152,097,999 (GRCm39) L909* probably null Het
Vcan A G 13: 89,869,805 (GRCm39) I210T probably damaging Het
Vcan A T 13: 89,879,576 (GRCm39) probably null Het
Vsig10l A T 7: 43,113,099 (GRCm39) D17V probably benign Het
Zbtb7b T A 3: 89,286,976 (GRCm39) T498S probably benign Het
Zfp366 T A 13: 99,366,076 (GRCm39) H412Q probably damaging Het
Zfp53 C A 17: 21,729,840 (GRCm39) D624E probably damaging Het
Zfp827 A T 8: 79,916,721 (GRCm39) D432V Het
Zic1 T C 9: 91,247,028 (GRCm39) T15A probably damaging Het
Zswim8 T C 14: 20,770,036 (GRCm39) C1368R probably damaging 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
IGL03065:Nxpe2 APN 9 48,230,992 (GRCm39) missense possibly damaging 0.68
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
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
Predicted Primers PCR Primer
(F):5'- GTAAGACGTTCAGCTGGTCTCC -3'
(R):5'- ATGGAAATCAATCCCTCTCATTCC -3'

Sequencing Primer
(F):5'- GTTCAGCTGGTCTCCTACGCAG -3'
(R):5'- TCAATCCCTCTCATTCCATAACAG -3'
Posted On 2019-06-26