Incidental Mutation 'R5877:Nxpe3'
ID 455622
Institutional Source Beutler Lab
Gene Symbol Nxpe3
Ensembl Gene ENSMUSG00000075033
Gene Name neurexophilin and PC-esterase domain family, member 3
Synonyms Fam55c, LOC208684, LOC385658
MMRRC Submission 044083-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R5877 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 55660316-55715648 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 55686564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 148 (I148K)
Ref Sequence ENSEMBL: ENSMUSP00000097296 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099705]
AlphaFold B9EKK6
Predicted Effect probably damaging
Transcript: ENSMUST00000099705
AA Change: I148K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000097296
Gene: ENSMUSG00000075033
AA Change: I148K

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Pfam:Neurexophilin 73 284 2.9e-64 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.7%
Validation Efficiency 97% (68/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the neurexophilin family of neuropeptide-like glycoproteins. The encoded protein contains a variable N-terminal domain, a highly conserved neurexophilin and PC-esterase (NXPE) central domain, a short linker region, and a cysteine-rich C-terminal domain. This protein binds alpha neurexins, a group of presynaptic transmembrane receptors that promote adhesion between dendrites and axons. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b A T 12: 113,453,822 (GRCm39) H213L probably damaging Het
Alk A G 17: 72,274,521 (GRCm39) W597R probably damaging Het
Ark2n G T 18: 77,730,902 (GRCm39) probably null Het
Ash1l G A 3: 88,888,891 (GRCm39) V257I probably benign Het
Atp9b C T 18: 80,796,004 (GRCm39) V957I probably benign Het
Birc2 A C 9: 7,849,347 (GRCm39) C576G probably damaging Het
Brca2 T C 5: 150,466,686 (GRCm39) M2150T possibly damaging Het
C3ar1 T G 6: 122,827,581 (GRCm39) D212A probably benign Het
Cacna1s T C 1: 136,028,405 (GRCm39) F914S probably damaging Het
Camk1d T C 2: 5,570,476 (GRCm39) I62V probably benign Het
Caskin1 T C 17: 24,724,239 (GRCm39) M1009T possibly damaging Het
Casp2 A G 6: 42,253,571 (GRCm39) probably benign Het
Cd2bp2 T A 7: 126,793,971 (GRCm39) Y106F probably damaging Het
Celsr3 G A 9: 108,722,926 (GRCm39) C2763Y probably damaging Het
Cyp2g1 T G 7: 26,516,065 (GRCm39) L310V possibly damaging Het
Dusp22 G A 13: 30,891,944 (GRCm39) V99M probably damaging Het
Elp1 A T 4: 56,787,807 (GRCm39) W375R probably damaging Het
Fam131b G A 6: 42,297,913 (GRCm39) S92L probably benign Het
Fbxw10 A T 11: 62,748,542 (GRCm39) N390Y probably damaging Het
Flg2 A T 3: 93,110,756 (GRCm39) H928L unknown Het
Gapdhs T C 7: 30,431,772 (GRCm39) T280A probably damaging Het
Hdac11 A G 6: 91,134,524 (GRCm39) K50E probably damaging Het
Hif3a G T 7: 16,785,071 (GRCm39) A181E probably damaging Het
Itgb8 A G 12: 119,166,271 (GRCm39) S87P probably benign Het
Klhl12 T A 1: 134,411,558 (GRCm39) Y302* probably null Het
Lhx1 C A 11: 84,413,065 (GRCm39) D30Y probably damaging Het
Mrpl40 A G 16: 18,691,135 (GRCm39) Y148H probably damaging Het
Myh13 A T 11: 67,244,484 (GRCm39) H1007L possibly damaging Het
Nhlrc2 T C 19: 56,559,016 (GRCm39) I167T probably damaging Het
Odf2l A G 3: 144,834,771 (GRCm39) probably null Het
Otud7b C T 3: 96,059,277 (GRCm39) R347* probably null Het
P3h4 G T 11: 100,304,843 (GRCm39) H181Q probably benign Het
P4htm T A 9: 108,460,932 (GRCm39) Y180F possibly damaging Het
Pcna-ps2 A G 19: 9,261,463 (GRCm39) I241V probably benign Het
Pcnx2 T C 8: 126,480,467 (GRCm39) S1947G probably damaging Het
Piezo2 T C 18: 63,247,005 (GRCm39) I336V probably benign Het
Plcd1 T C 9: 118,905,240 (GRCm39) D157G probably damaging Het
Plekhm2 A C 4: 141,367,004 (GRCm39) I212S probably damaging Het
Pmvk G T 3: 89,371,676 (GRCm39) C57F probably benign Het
Pole T C 5: 110,480,329 (GRCm39) S91P probably benign Het
Ppargc1b C G 18: 61,442,164 (GRCm39) D591H probably damaging Het
Ppp4r3b A T 11: 29,159,356 (GRCm39) D570V probably damaging Het
Pxdn T A 12: 30,053,045 (GRCm39) I1074N probably damaging Het
Ralgapa2 A T 2: 146,230,489 (GRCm39) D1025E probably damaging Het
Ralgps1 A G 2: 33,133,640 (GRCm39) probably benign Het
Rasal1 C T 5: 120,817,135 (GRCm39) probably benign Het
Rps2 A T 17: 24,939,890 (GRCm39) probably benign Het
Scn7a G C 2: 66,530,217 (GRCm39) Y709* probably null Het
Skint1 T A 4: 111,878,720 (GRCm39) C217* probably null Het
Slc50a1 T C 3: 89,176,460 (GRCm39) Y82C probably damaging Het
Slc9a4 T C 1: 40,651,423 (GRCm39) V567A probably benign Het
Snx27 A T 3: 94,410,270 (GRCm39) W469R probably damaging Het
Sos2 A G 12: 69,643,569 (GRCm39) L937P probably damaging Het
Ssh1 T C 5: 114,081,181 (GRCm39) T728A probably benign Het
Tnfrsf8 G A 4: 145,019,257 (GRCm39) R193C probably benign Het
Tut4 T C 4: 108,370,120 (GRCm39) V673A probably damaging Het
Usp33 T A 3: 152,085,113 (GRCm39) M583K possibly damaging Het
Usp33 G A 3: 152,085,233 (GRCm39) C623Y probably damaging Het
Wdfy3 T C 5: 102,017,855 (GRCm39) I2562V probably damaging Het
Wnk2 T C 13: 49,220,782 (GRCm39) D1175G probably damaging Het
Zfp341 G A 2: 154,474,209 (GRCm39) E338K probably damaging Het
Zfp398 A G 6: 47,817,638 (GRCm39) probably benign Het
Zp2 T A 7: 119,732,562 (GRCm39) K661N probably null Het
Other mutations in Nxpe3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00840:Nxpe3 APN 16 55,664,595 (GRCm39) missense probably damaging 0.98
IGL01743:Nxpe3 APN 16 55,670,128 (GRCm39) missense probably benign 0.00
IGL02355:Nxpe3 APN 16 55,710,949 (GRCm39) missense probably benign 0.11
IGL02362:Nxpe3 APN 16 55,710,949 (GRCm39) missense probably benign 0.11
IGL02750:Nxpe3 APN 16 55,680,738 (GRCm39) missense probably benign 0.21
IGL02792:Nxpe3 APN 16 55,686,535 (GRCm39) missense probably damaging 0.98
IGL03383:Nxpe3 APN 16 55,670,076 (GRCm39) missense probably benign 0.00
R0126:Nxpe3 UTSW 16 55,686,592 (GRCm39) missense possibly damaging 0.94
R0348:Nxpe3 UTSW 16 55,686,898 (GRCm39) missense probably benign 0.01
R0526:Nxpe3 UTSW 16 55,686,880 (GRCm39) missense possibly damaging 0.86
R1752:Nxpe3 UTSW 16 55,686,837 (GRCm39) missense probably benign
R1830:Nxpe3 UTSW 16 55,686,444 (GRCm39) missense probably damaging 1.00
R2285:Nxpe3 UTSW 16 55,686,588 (GRCm39) missense probably damaging 1.00
R3196:Nxpe3 UTSW 16 55,670,078 (GRCm39) missense probably damaging 0.99
R4863:Nxpe3 UTSW 16 55,669,996 (GRCm39) missense probably damaging 1.00
R4922:Nxpe3 UTSW 16 55,680,687 (GRCm39) missense probably benign
R5308:Nxpe3 UTSW 16 55,686,834 (GRCm39) missense probably benign 0.43
R5338:Nxpe3 UTSW 16 55,686,706 (GRCm39) missense possibly damaging 0.52
R5539:Nxpe3 UTSW 16 55,711,034 (GRCm39) missense possibly damaging 0.92
R5780:Nxpe3 UTSW 16 55,686,804 (GRCm39) missense probably damaging 1.00
R6769:Nxpe3 UTSW 16 55,686,471 (GRCm39) missense probably damaging 1.00
R6771:Nxpe3 UTSW 16 55,686,471 (GRCm39) missense probably damaging 1.00
R6841:Nxpe3 UTSW 16 55,664,685 (GRCm39) missense possibly damaging 0.65
R7660:Nxpe3 UTSW 16 55,664,690 (GRCm39) missense probably damaging 0.96
R8900:Nxpe3 UTSW 16 55,665,023 (GRCm39) missense probably damaging 0.98
R8925:Nxpe3 UTSW 16 55,669,997 (GRCm39) missense possibly damaging 0.51
R8927:Nxpe3 UTSW 16 55,669,997 (GRCm39) missense possibly damaging 0.51
R9599:Nxpe3 UTSW 16 55,664,855 (GRCm39) missense probably damaging 1.00
Z1177:Nxpe3 UTSW 16 55,686,585 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAATAGACCCTGTCTGGTTTCTC -3'
(R):5'- AGAGGAGGATGCCTTGCTTG -3'

Sequencing Primer
(F):5'- TCTTCCTGCAGGCGCTGAAG -3'
(R):5'- TTGCTGCCTCCAAGTGGAAG -3'
Posted On 2017-02-10