Incidental Mutation 'IGL01830:Nxpe2'
ID 154745
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 # IGL01830
Quality Score
Status
Chromosome 9
Chromosomal Location 48229303-48264749 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 48237794 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 154 (S154T)
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 probably damaging
Transcript: ENSMUST00000034527
AA Change: S154T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000034527
Gene: ENSMUSG00000032028
AA Change: S154T

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: ENSMUST00000137976
AA Change: S154T

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000116684
Gene: ENSMUSG00000032028
AA Change: S154T

DomainStartEndE-ValueType
transmembrane domain 22 39 N/A INTRINSIC
Pfam:Neurexophilin 99 187 2.1e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142667
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149185
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahsg C A 16: 22,717,779 (GRCm39) P252Q probably damaging Het
Anks4b T A 7: 119,773,219 (GRCm39) N26K probably damaging Het
Arrdc5 C T 17: 56,601,652 (GRCm39) V158I probably damaging Het
Catsper2 T C 2: 121,237,843 (GRCm39) D179G probably damaging Het
Cd44 T C 2: 102,672,603 (GRCm39) probably benign Het
Ceacam3 T A 7: 16,888,925 (GRCm39) D231E possibly damaging Het
Cep57l1 C T 10: 41,604,649 (GRCm39) C160Y probably benign Het
Chek2 T A 5: 111,021,374 (GRCm39) L528Q probably benign Het
Ciita T C 16: 10,338,915 (GRCm39) L973P probably damaging Het
Dock2 A T 11: 34,582,744 (GRCm39) L637* probably null Het
Fsip2 A C 2: 82,815,273 (GRCm39) I3669L probably benign Het
Gapvd1 A G 2: 34,578,968 (GRCm39) V1218A probably benign Het
Gip T C 11: 95,919,550 (GRCm39) L91S possibly damaging Het
Gp2 T C 7: 119,050,765 (GRCm39) D322G probably damaging Het
Ift172 A G 5: 31,442,636 (GRCm39) V177A probably damaging Het
Kng2 T C 16: 22,806,801 (GRCm39) D466G probably damaging Het
Lpar5 G A 6: 125,058,785 (GRCm39) A169T probably benign Het
Med13 C T 11: 86,179,754 (GRCm39) probably benign Het
Meiob T A 17: 25,054,105 (GRCm39) C391S probably benign Het
Mgat5 A G 1: 127,339,869 (GRCm39) T417A probably damaging Het
Myo1b A T 1: 51,836,624 (GRCm39) L279* probably null Het
Myo1g T A 11: 6,464,522 (GRCm39) K513* probably null Het
Ogn C T 13: 49,762,723 (GRCm39) Q22* probably null Het
Or4c12 A G 2: 89,773,775 (GRCm39) L228S probably benign Het
Pacs2 A T 12: 113,020,574 (GRCm39) K316* probably null Het
Pelo T A 13: 115,225,131 (GRCm39) I365F probably damaging Het
Phf3 G A 1: 30,853,148 (GRCm39) Q1021* probably null Het
Pik3r4 A G 9: 105,522,154 (GRCm39) D240G probably damaging Het
Pknox1 T C 17: 31,814,284 (GRCm39) M203T probably benign Het
Pld1 T C 3: 28,102,153 (GRCm39) probably benign Het
Rabgef1 G T 5: 130,240,907 (GRCm39) C342F possibly damaging Het
Rbm19 A C 5: 120,262,760 (GRCm39) K307T possibly damaging Het
Sdcbp2 T A 2: 151,431,494 (GRCm39) I289N probably damaging Het
Slc5a12 G A 2: 110,428,151 (GRCm39) G69R probably damaging Het
Spag1 C A 15: 36,221,705 (GRCm39) S599R probably benign Het
Ubr4 A T 4: 139,199,811 (GRCm39) D4565V probably damaging Het
Usp34 G A 11: 23,386,020 (GRCm39) R2149H probably damaging Het
Vmn1r225 T C 17: 20,722,717 (GRCm39) S53P probably damaging Het
Xrcc1 T A 7: 24,272,767 (GRCm39) probably benign Het
Other mutations in Nxpe2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01414:Nxpe2 APN 9 48,231,923 (GRCm39) missense probably benign 0.00
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
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 2014-02-04