Incidental Mutation 'R1119:Nxpe5'
ID 97707
Institutional Source Beutler Lab
Gene Symbol Nxpe5
Ensembl Gene ENSMUSG00000047592
Gene Name neurexophilin and PC-esterase domain family, member 5
Synonyms Fam55 related, BC055004
MMRRC Submission 039192-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R1119 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 138224160-138251625 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 138237658 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 61 (D61N)
Ref Sequence ENSEMBL: ENSMUSP00000124263 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110929] [ENSMUST00000159798] [ENSMUST00000159964] [ENSMUST00000161047] [ENSMUST00000162519]
AlphaFold E0CX47
Predicted Effect probably benign
Transcript: ENSMUST00000110929
AA Change: D73N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000106554
Gene: ENSMUSG00000047592
AA Change: D73N

DomainStartEndE-ValueType
transmembrane domain 9 28 N/A INTRINSIC
Pfam:Neurexophilin 57 263 4.2e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159798
AA Change: D73N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000124381
Gene: ENSMUSG00000047592
AA Change: D73N

DomainStartEndE-ValueType
transmembrane domain 9 28 N/A INTRINSIC
Pfam:Neurexophilin 57 263 4.2e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159964
AA Change: D74N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000123835
Gene: ENSMUSG00000047592
AA Change: D74N

DomainStartEndE-ValueType
Pfam:Neurexophilin 87 265 1.5e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161047
AA Change: D73N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000124929
Gene: ENSMUSG00000047592
AA Change: D73N

DomainStartEndE-ValueType
transmembrane domain 9 28 N/A INTRINSIC
Pfam:Neurexophilin 86 264 1.6e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162519
AA Change: D61N

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000124263
Gene: ENSMUSG00000047592
AA Change: D61N

DomainStartEndE-ValueType
Pfam:Neurexophilin 43 152 5.4e-7 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.4%
Validation Efficiency 100% (51/51)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl3 A C 7: 82,189,525 (GRCm39) E583A probably damaging Het
Aoah T A 13: 21,099,108 (GRCm39) probably benign Het
Atf7ip2 A G 16: 10,058,476 (GRCm39) K305R possibly damaging Het
Bltp1 T G 3: 37,041,194 (GRCm39) V2524G probably damaging Het
Cd200r2 A G 16: 44,729,969 (GRCm39) N171S probably damaging Het
Cfap57 G A 4: 118,463,873 (GRCm39) Q327* probably null Het
Ckap2l A T 2: 129,114,492 (GRCm39) probably benign Het
Cul2 A G 18: 3,419,335 (GRCm39) probably benign Het
Ddx60 G A 8: 62,395,578 (GRCm39) V172M probably damaging Het
Drp2 T C X: 133,342,071 (GRCm39) L545P probably damaging Het
Ezh1 A G 11: 101,101,361 (GRCm39) probably benign Het
Gipc2 A G 3: 151,799,833 (GRCm39) F299S probably damaging Het
Gsk3b T C 16: 38,028,346 (GRCm39) probably benign Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Hikeshi A G 7: 89,584,938 (GRCm39) S89P probably benign Het
Hmcn1 C T 1: 150,494,679 (GRCm39) A4137T possibly damaging Het
Itprid1 T C 6: 55,866,155 (GRCm39) F183L probably damaging Het
Larp1b C A 3: 40,987,963 (GRCm39) R62S possibly damaging Het
Lgr5 A T 10: 115,296,716 (GRCm39) probably null Het
Lpin1 C A 12: 16,613,722 (GRCm39) D449Y probably damaging Het
Macrod2 A T 2: 140,242,826 (GRCm39) I31L probably benign Het
Meig1 T C 2: 3,410,311 (GRCm39) D63G probably damaging Het
Ndufa9 A T 6: 126,799,031 (GRCm39) L362Q probably damaging Het
Nlrp9c A T 7: 26,083,862 (GRCm39) D572E probably benign Het
Ogdh T A 11: 6,290,544 (GRCm39) H376Q probably damaging Het
P4ha3 T C 7: 99,962,535 (GRCm39) I431T probably damaging Het
Pcdhb14 G A 18: 37,581,640 (GRCm39) V249M probably damaging Het
Pcnp A G 16: 55,844,754 (GRCm39) S49P probably damaging Het
Pik3r6 C T 11: 68,436,698 (GRCm39) T654I probably benign Het
Rptn A G 3: 93,303,552 (GRCm39) Y295C possibly damaging Het
Sec16b A G 1: 157,392,404 (GRCm39) D924G possibly damaging Het
Setd1b C A 5: 123,285,779 (GRCm39) T275K unknown Het
Sgcb T A 5: 73,801,757 (GRCm39) K36I probably damaging Het
Smg7 A T 1: 152,742,326 (GRCm39) probably benign Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Stab2 T C 10: 86,695,619 (GRCm39) D599G possibly damaging Het
Stk36 A G 1: 74,671,925 (GRCm39) E875G probably benign Het
Tagln3 C A 16: 45,544,635 (GRCm39) R12L probably damaging Het
Tax1bp1 C A 6: 52,718,933 (GRCm39) probably benign Het
Thnsl1 A G 2: 21,217,857 (GRCm39) N16S probably damaging Het
Ticrr C T 7: 79,343,701 (GRCm39) P1189S probably benign Het
Tnxb G A 17: 34,904,017 (GRCm39) V1053M probably damaging Het
Tpp2 T C 1: 44,031,556 (GRCm39) probably null Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Vmn2r60 A T 7: 41,844,365 (GRCm39) Q576L possibly damaging Het
Zfp62 G T 11: 49,107,517 (GRCm39) R536L probably damaging Het
Zfp958 A T 8: 4,676,169 (GRCm39) N46Y possibly damaging Het
Other mutations in Nxpe5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Nxpe5 APN 5 138,247,096 (GRCm39) missense probably benign 0.00
FR4737:Nxpe5 UTSW 5 138,228,196 (GRCm39) start gained probably benign
R0049:Nxpe5 UTSW 5 138,249,566 (GRCm39) missense probably damaging 1.00
R0049:Nxpe5 UTSW 5 138,249,566 (GRCm39) missense probably damaging 1.00
R0964:Nxpe5 UTSW 5 138,238,186 (GRCm39) missense probably damaging 1.00
R1774:Nxpe5 UTSW 5 138,237,797 (GRCm39) missense probably benign
R1895:Nxpe5 UTSW 5 138,249,785 (GRCm39) missense probably damaging 1.00
R3717:Nxpe5 UTSW 5 138,249,886 (GRCm39) missense probably damaging 1.00
R4828:Nxpe5 UTSW 5 138,228,795 (GRCm39) missense possibly damaging 0.80
R5268:Nxpe5 UTSW 5 138,238,200 (GRCm39) nonsense probably null
R5342:Nxpe5 UTSW 5 138,237,503 (GRCm39) missense probably damaging 0.97
R5607:Nxpe5 UTSW 5 138,238,033 (GRCm39) missense probably benign 0.00
R6966:Nxpe5 UTSW 5 138,237,679 (GRCm39) missense probably damaging 1.00
R7117:Nxpe5 UTSW 5 138,237,704 (GRCm39) missense probably damaging 1.00
R7196:Nxpe5 UTSW 5 138,237,586 (GRCm39) missense probably benign 0.30
R7427:Nxpe5 UTSW 5 138,238,022 (GRCm39) missense probably damaging 0.98
R7428:Nxpe5 UTSW 5 138,238,022 (GRCm39) missense probably damaging 0.98
R7548:Nxpe5 UTSW 5 138,249,493 (GRCm39) missense probably benign 0.29
R7823:Nxpe5 UTSW 5 138,237,844 (GRCm39) missense possibly damaging 0.50
R8058:Nxpe5 UTSW 5 138,237,573 (GRCm39) nonsense probably null
R8094:Nxpe5 UTSW 5 138,249,802 (GRCm39) missense probably damaging 1.00
R8293:Nxpe5 UTSW 5 138,228,804 (GRCm39) missense probably benign 0.20
R8303:Nxpe5 UTSW 5 138,239,264 (GRCm39) unclassified probably benign
R9372:Nxpe5 UTSW 5 138,249,445 (GRCm39) missense probably benign 0.00
R9483:Nxpe5 UTSW 5 138,228,591 (GRCm39) start gained probably benign
Z1088:Nxpe5 UTSW 5 138,239,176 (GRCm39) critical splice acceptor site probably null
Z1177:Nxpe5 UTSW 5 138,228,088 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- TTCATGATGCCTTGGCCTGAGC -3'
(R):5'- TTTGCAGGACCCTAACTGCCTCAC -3'

Sequencing Primer
(F):5'- TGAGCCCATGATCCATTGG -3'
(R):5'- CAAGAGGTAAGTGCCATTCTTCAG -3'
Posted On 2014-01-05