Incidental Mutation 'IGL03192:Nptx1'
ID412686
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nptx1
Ensembl Gene ENSMUSG00000025582
Gene Nameneuronal pentraxin 1
SynonymsD11Bwg1004e, Np1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03192
Quality Score
Status
Chromosome11
Chromosomal Location119538719-119547753 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 119546759 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 182 (N182I)
Ref Sequence ENSEMBL: ENSMUSP00000026670 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026670]
Predicted Effect probably benign
Transcript: ENSMUST00000026670
AA Change: N182I

PolyPhen 2 Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000026670
Gene: ENSMUSG00000025582
AA Change: N182I

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
coiled coil region 52 72 N/A INTRINSIC
low complexity region 129 140 N/A INTRINSIC
PTX 222 428 1.31e-105 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135630
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NPTX1 is a member of the neuronal pentraxin gene family. Neuronal pentraxin 1 is similar to the rat NP1 gene which encodes a binding protein for the snake venom toxin taipoxin. Human NPTX1 mRNA is exclusively localized to the nervous system. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation of this gene display a mild alteration in retinal ganglion cell innervation but are fertile with no obvious behavioral abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh7 G A 3: 138,227,960 G293S probably damaging Het
Ahi1 G A 10: 20,965,635 V274I probably benign Het
Arfip2 C T 7: 105,637,943 R138H probably damaging Het
Asb8 G A 15: 98,135,895 R260C possibly damaging Het
Cfh A T 1: 140,099,021 H531Q possibly damaging Het
Clcn7 C A 17: 25,133,601 P42Q probably benign Het
Cxcr6 G T 9: 123,810,046 K37N possibly damaging Het
Fndc3c1 C T X: 106,436,316 probably null Het
Gramd1b A T 9: 40,306,801 L429H probably damaging Het
Grm1 T C 10: 11,079,916 D208G possibly damaging Het
H2-T24 C T 17: 36,015,476 W177* probably null Het
Il17rc G A 6: 113,472,885 V151M probably damaging Het
Magi3 A G 3: 104,043,246 F741S probably damaging Het
Neil1 A G 9: 57,143,535 S339P probably benign Het
Olfr402 T A 11: 74,155,250 I32K probably benign Het
Phtf2 A G 5: 20,761,719 V723A probably damaging Het
Rbp3 G T 14: 33,958,583 M1047I possibly damaging Het
Rhobtb1 A G 10: 69,248,823 I15V probably damaging Het
Rtbdn T A 8: 84,952,655 S30T probably benign Het
Serinc4 G T 2: 121,452,391 S430* probably null Het
Slc25a33 A G 4: 149,744,766 I312T probably damaging Het
Speer3 A G 5: 13,791,688 R11G possibly damaging Het
Tbc1d5 A G 17: 50,984,681 probably benign Het
Unc93a A T 17: 13,116,186 Y324* probably null Het
Wdr31 A T 4: 62,453,912 D322E possibly damaging Het
Zbtb9 A G 17: 26,974,298 T226A probably benign Het
Zfyve16 T C 13: 92,521,240 E721G possibly damaging Het
Other mutations in Nptx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01634:Nptx1 APN 11 119544672 missense probably damaging 1.00
IGL02027:Nptx1 APN 11 119544596 missense possibly damaging 0.88
IGL03280:Nptx1 APN 11 119544729 missense probably damaging 1.00
R0220:Nptx1 UTSW 11 119544641 missense probably damaging 1.00
R0318:Nptx1 UTSW 11 119542541 missense probably damaging 1.00
R0634:Nptx1 UTSW 11 119543301 missense possibly damaging 0.76
R1951:Nptx1 UTSW 11 119543180 critical splice donor site probably null
R2258:Nptx1 UTSW 11 119543316 missense probably benign 0.10
R2259:Nptx1 UTSW 11 119543316 missense probably benign 0.10
R2698:Nptx1 UTSW 11 119544843 splice site probably benign
R3924:Nptx1 UTSW 11 119547507 missense possibly damaging 0.67
R6429:Nptx1 UTSW 11 119544721 nonsense probably null
R6866:Nptx1 UTSW 11 119546650 critical splice donor site probably null
R7246:Nptx1 UTSW 11 119544590 critical splice donor site probably null
R7808:Nptx1 UTSW 11 119544636 missense probably damaging 0.97
R8121:Nptx1 UTSW 11 119542666 missense probably damaging 1.00
Posted On2016-08-02