Incidental Mutation 'R1119:Nxpe5'
ID97707
Institutional Source Beutler Lab
Gene Symbol Nxpe5
Ensembl Gene ENSMUSG00000047592
Gene Nameneurexophilin and PC-esterase domain family, member 5
SynonymsFam55 related, BC055004
MMRRC Submission 039192-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.064) question?
Stock #R1119 (G1)
Quality Score225
Status Validated
Chromosome5
Chromosomal Location138225898-138253363 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 138239396 bp
ZygosityHeterozygous
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]
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
4932438A13Rik T G 3: 36,987,045 V2524G probably damaging Het
Adamtsl3 A C 7: 82,540,317 E583A probably damaging Het
Aoah T A 13: 20,914,938 probably benign Het
Atf7ip2 A G 16: 10,240,612 K305R possibly damaging Het
Ccdc129 T C 6: 55,889,170 F183L probably damaging Het
Cd200r2 A G 16: 44,909,606 N171S probably damaging Het
Cfap57 G A 4: 118,606,676 Q327* probably null Het
Ckap2l A T 2: 129,272,572 probably benign Het
Cul2 A G 18: 3,419,335 probably benign Het
Ddx60 G A 8: 61,942,544 V172M probably damaging Het
Drp2 T C X: 134,441,322 L545P probably damaging Het
Ezh1 A G 11: 101,210,535 probably benign Het
Gipc2 A G 3: 152,094,196 F299S probably damaging Het
Gsk3b T C 16: 38,207,984 probably benign Het
Gtf3c3 C T 1: 54,417,778 A488T probably damaging Het
Hikeshi A G 7: 89,935,730 S89P probably benign Het
Hmcn1 C T 1: 150,618,928 A4137T possibly damaging Het
Larp1b C A 3: 41,033,528 R62S possibly damaging Het
Lgr5 A T 10: 115,460,811 probably null Het
Lpin1 C A 12: 16,563,721 D449Y probably damaging Het
Macrod2 A T 2: 140,400,906 I31L probably benign Het
Meig1 T C 2: 3,409,274 D63G probably damaging Het
Ndufa9 A T 6: 126,822,068 L362Q probably damaging Het
Nlrp9c A T 7: 26,384,437 D572E probably benign Het
Ogdh T A 11: 6,340,544 H376Q probably damaging Het
P4ha3 T C 7: 100,313,328 I431T probably damaging Het
Pcdhb14 G A 18: 37,448,587 V249M probably damaging Het
Pcnp A G 16: 56,024,391 S49P probably damaging Het
Pik3r6 C T 11: 68,545,872 T654I probably benign Het
Rptn A G 3: 93,396,245 Y295C possibly damaging Het
Sec16b A G 1: 157,564,834 D924G possibly damaging Het
Setd1b C A 5: 123,147,716 T275K unknown Het
Sgcb T A 5: 73,644,414 K36I probably damaging Het
Smg7 A T 1: 152,866,575 probably benign Het
Sned1 G A 1: 93,281,654 V830M possibly damaging Het
Stab2 T C 10: 86,859,755 D599G possibly damaging Het
Stk36 A G 1: 74,632,766 E875G probably benign Het
Tagln3 C A 16: 45,724,272 R12L probably damaging Het
Tax1bp1 C A 6: 52,741,948 probably benign Het
Thnsl1 A G 2: 21,213,046 N16S probably damaging Het
Ticrr C T 7: 79,693,953 P1189S probably benign Het
Tnxb G A 17: 34,685,043 V1053M probably damaging Het
Tpp2 T C 1: 43,992,396 probably null Het
Trappc9 G A 15: 73,025,967 R377W probably damaging Het
Vmn2r60 A T 7: 42,194,941 Q576L possibly damaging Het
Zfp62 G T 11: 49,216,690 R536L probably damaging Het
Zfp958 A T 8: 4,626,169 N46Y possibly damaging Het
Other mutations in Nxpe5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Nxpe5 APN 5 138248834 missense probably benign 0.00
FR4737:Nxpe5 UTSW 5 138229934 start gained probably benign
R0049:Nxpe5 UTSW 5 138251304 missense probably damaging 1.00
R0049:Nxpe5 UTSW 5 138251304 missense probably damaging 1.00
R0964:Nxpe5 UTSW 5 138239924 missense probably damaging 1.00
R1774:Nxpe5 UTSW 5 138239535 missense probably benign
R1895:Nxpe5 UTSW 5 138251523 missense probably damaging 1.00
R3717:Nxpe5 UTSW 5 138251624 missense probably damaging 1.00
R4828:Nxpe5 UTSW 5 138230533 missense possibly damaging 0.80
R5268:Nxpe5 UTSW 5 138239938 nonsense probably null
R5342:Nxpe5 UTSW 5 138239241 missense probably damaging 0.97
R5607:Nxpe5 UTSW 5 138239771 missense probably benign 0.00
R6966:Nxpe5 UTSW 5 138239417 missense probably damaging 1.00
R7117:Nxpe5 UTSW 5 138239442 missense probably damaging 1.00
R7196:Nxpe5 UTSW 5 138239324 missense probably benign 0.30
R7427:Nxpe5 UTSW 5 138239760 missense probably damaging 0.98
R7428:Nxpe5 UTSW 5 138239760 missense probably damaging 0.98
R7548:Nxpe5 UTSW 5 138251231 missense probably benign 0.29
R7823:Nxpe5 UTSW 5 138239582 missense possibly damaging 0.50
R8058:Nxpe5 UTSW 5 138239311 nonsense probably null
R8094:Nxpe5 UTSW 5 138251540 missense probably damaging 1.00
Z1088:Nxpe5 UTSW 5 138240914 critical splice acceptor site probably null
Z1177:Nxpe5 UTSW 5 138229826 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 On2014-01-05