Incidental Mutation 'IGL03280:Nptx1'
ID415571
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 #IGL03280
Quality Score
Status
Chromosome11
Chromosomal Location119538719-119547753 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 119544729 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 254 (T254A)
Ref Sequence ENSEMBL: ENSMUSP00000026670 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026670]
Predicted Effect probably damaging
Transcript: ENSMUST00000026670
AA Change: T254A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000026670
Gene: ENSMUSG00000025582
AA Change: T254A

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asb4 T C 6: 5,423,416 S188P probably benign Het
Bbs5 A G 2: 69,666,971 probably benign Het
Ccdc36 T C 9: 108,404,900 S530G possibly damaging Het
Cdh13 G T 8: 119,314,134 G693W probably damaging Het
Cdh7 T A 1: 110,108,768 Y559* probably null Het
Cemip G A 7: 83,987,330 probably benign Het
Crem A G 18: 3,273,415 probably benign Het
Crygf A G 1: 65,928,170 Y151C probably damaging Het
Dcp1b T C 6: 119,180,058 probably benign Het
Fanca A G 8: 123,316,459 probably benign Het
Fkbp15 A C 4: 62,303,267 probably benign Het
Gabrp C T 11: 33,552,616 R416Q probably benign Het
Gm13103 A T 4: 143,851,919 T250S possibly damaging Het
Impg2 T A 16: 56,268,268 Y1052* probably null Het
Isg15 T C 4: 156,199,862 M70V probably benign Het
Krit1 T A 5: 3,811,248 probably benign Het
Lrrn3 T C 12: 41,454,147 D57G probably damaging Het
Macrod1 A G 19: 7,197,572 E309G possibly damaging Het
Notch1 A T 2: 26,477,874 probably benign Het
Olfr1121 A T 2: 87,372,123 D197V probably damaging Het
Pigm A G 1: 172,376,853 Y52C probably damaging Het
Rif1 A G 2: 52,112,599 T2022A probably benign Het
Rint1 T A 5: 23,817,078 L646Q probably damaging Het
Rpe65 A T 3: 159,604,341 I84F probably damaging Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Scnn1a T C 6: 125,342,781 probably benign Het
Selenop T C 15: 3,280,622 probably benign Het
Siglecf T G 7: 43,355,930 V438G probably benign Het
St8sia4 T A 1: 95,653,774 probably benign Het
Tfeb T C 17: 47,785,937 F43S probably benign Het
Tgm6 A G 2: 130,138,931 Y216C probably damaging Het
Try10 T A 6: 41,354,220 V10E probably benign Het
Ttn A T 2: 76,898,467 C1234* probably null Het
Ugt2a3 G A 5: 87,336,580 P195L probably damaging Het
Usp24 T G 4: 106,380,430 I1095R probably damaging Het
Usp34 C T 11: 23,354,897 H377Y probably 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
IGL03192:Nptx1 APN 11 119546759 missense probably benign 0.41
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