Incidental Mutation 'R2484:Nptx2'
ID 250809
Institutional Source Beutler Lab
Gene Symbol Nptx2
Ensembl Gene ENSMUSG00000059991
Gene Name neuronal pentraxin 2
Synonyms np2, narp
MMRRC Submission 040408-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2484 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 144482712-144494288 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 144493155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 414 (A414V)
Ref Sequence ENSEMBL: ENSMUSP00000071687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071782]
AlphaFold O70340
Predicted Effect probably damaging
Transcript: ENSMUST00000071782
AA Change: A414V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071687
Gene: ENSMUSG00000059991
AA Change: A414V

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Blast:HAMP 86 140 2e-11 BLAST
low complexity region 157 173 N/A INTRINSIC
PTX 217 422 2.17e-106 SMART
Meta Mutation Damage Score 0.1736 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 97% (72/74)
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 family of neuronal petraxins, synaptic proteins that are related to C-reactive protein. This protein is involved in excitatory synapse formation. It also plays a role in clustering of alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA)-type glutamate receptors at established synapses, resulting in non-apoptotic cell death of dopaminergic nerve cells. Up-regulation of this gene in Parkinson disease (PD) tissues suggests that the protein may be involved in the pathology of PD. [provided by RefSeq, Feb 2009]
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik G A 2: 68,541,819 (GRCm39) D46N possibly damaging Het
A830018L16Rik G T 1: 11,666,526 (GRCm39) A278S probably damaging Het
Acsbg3 A G 17: 57,189,641 (GRCm39) N252S probably benign Het
Adarb2 A T 13: 8,619,810 (GRCm39) K99* probably null Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atxn1l A G 8: 110,458,883 (GRCm39) S460P probably damaging Het
Bicra T A 7: 15,722,605 (GRCm39) N304I possibly damaging Het
Capn10 A T 1: 92,872,565 (GRCm39) D470V probably damaging Het
Chchd3 A G 6: 32,780,950 (GRCm39) Y184H possibly damaging Het
Col6a6 T C 9: 105,658,003 (GRCm39) I736M probably damaging Het
Dhx36 T A 3: 62,380,236 (GRCm39) N820I probably damaging Het
Drd4 C T 7: 140,874,649 (GRCm39) P347S probably benign Het
Ephx1 A T 1: 180,817,537 (GRCm39) V378D probably damaging Het
Extl3 A T 14: 65,313,184 (GRCm39) V666E probably damaging Het
Fam20c G C 5: 138,794,872 (GRCm39) R500S probably benign Het
Glod4 A T 11: 76,130,344 (GRCm39) D42E probably damaging Het
Golga2 T C 2: 32,194,782 (GRCm39) I643T probably benign Het
Hnf1b A T 11: 83,752,661 (GRCm39) T73S probably benign Het
Hydin A G 8: 111,239,747 (GRCm39) Y2009C possibly damaging Het
Ido2 A G 8: 25,023,831 (GRCm39) C336R probably damaging Het
Ifngr1 T C 10: 19,477,163 (GRCm39) V108A probably damaging Het
Igbp1b A T 6: 138,634,492 (GRCm39) N317K probably benign Het
Ints14 A G 9: 64,893,366 (GRCm39) S511G probably benign Het
Itpr1 T C 6: 108,346,071 (GRCm39) S125P probably damaging Het
Jag1 T C 2: 136,926,620 (GRCm39) T975A possibly damaging Het
Klra17 A G 6: 129,845,720 (GRCm39) W165R probably damaging Het
Leo1 T A 9: 75,352,755 (GRCm39) N99K possibly damaging Het
Lonp1 C A 17: 56,921,659 (GRCm39) G883C probably damaging Het
Lpin1 C A 12: 16,597,500 (GRCm39) G682W probably damaging Het
Macf1 A C 4: 123,367,465 (GRCm39) L2432R probably damaging Het
Med12l T G 3: 59,205,259 (GRCm39) I2075M probably benign Het
Mroh6 A G 15: 75,756,177 (GRCm39) S660P probably benign Het
Myh6 G T 14: 55,198,699 (GRCm39) Y309* probably null Het
Myof C T 19: 37,892,291 (GRCm39) R1154H probably benign Het
Myrip G A 9: 120,253,685 (GRCm39) E253K probably benign Het
Ndst3 T C 3: 123,346,186 (GRCm39) D281G possibly damaging Het
Nipbl T C 15: 8,353,182 (GRCm39) K1788R probably damaging Het
Nol12 A G 15: 78,824,717 (GRCm39) probably benign Het
Nptn A G 9: 58,550,956 (GRCm39) T212A possibly damaging Het
Nub1 A G 5: 24,913,700 (GRCm39) D503G possibly damaging Het
Obscn T A 11: 58,898,366 (GRCm39) probably benign Het
Or4a80 A G 2: 89,582,578 (GRCm39) I198T probably benign Het
Or51q1 A G 7: 103,628,545 (GRCm39) T49A probably benign Het
Or5b97 C T 19: 12,879,005 (GRCm39) M46I probably benign Het
Pcnx2 T C 8: 126,617,859 (GRCm39) E132G probably damaging Het
Pkdcc A G 17: 83,529,667 (GRCm39) probably benign Het
Prdm2 T A 4: 142,861,776 (GRCm39) I505F probably damaging Het
Psmc3 C G 2: 90,886,346 (GRCm39) Q169E probably damaging Het
Ptger4 A T 15: 5,264,654 (GRCm39) I334N probably benign Het
Ptrh1 T C 2: 32,667,183 (GRCm39) M161T probably benign Het
Rapgef6 T A 11: 54,533,582 (GRCm39) V482D possibly damaging Het
Rdh16f2 T C 10: 127,710,946 (GRCm39) S188P probably damaging Het
Rrh T C 3: 129,616,040 (GRCm39) Y31C probably damaging Het
Selp G T 1: 163,971,523 (GRCm39) W659L probably benign Het
Selp G T 1: 163,971,524 (GRCm39) W659C probably damaging Het
Shh A G 5: 28,671,740 (GRCm39) C8R probably benign Het
Spdye4b C A 5: 143,187,848 (GRCm39) S167R possibly damaging Het
Strip1 T C 3: 107,535,537 (GRCm39) Y62C possibly damaging Het
Sucla2 A T 14: 73,819,149 (GRCm39) I232F probably benign Het
Sugp1 A G 8: 70,522,174 (GRCm39) D437G possibly damaging Het
Taf1a A G 1: 183,177,422 (GRCm39) probably benign Het
Tbc1d20 T A 2: 152,153,283 (GRCm39) M271K probably damaging Het
Tecpr2 T C 12: 110,899,752 (GRCm39) S707P probably benign Het
Tert G A 13: 73,796,104 (GRCm39) R1017H probably benign Het
Tox C G 4: 6,688,886 (GRCm39) V493L probably damaging Het
Tpo C T 12: 30,153,968 (GRCm39) A246T probably benign Het
Traf7 A T 17: 24,730,613 (GRCm39) V358D probably damaging Het
Trim56 C T 5: 137,141,528 (GRCm39) V663M possibly damaging Het
Unc80 C T 1: 66,560,740 (GRCm39) H823Y possibly damaging Het
Usf3 C T 16: 44,041,045 (GRCm39) H1842Y probably damaging Het
Uvrag T C 7: 98,537,668 (GRCm39) E509G probably benign Het
Vmn2r5 T C 3: 64,411,392 (GRCm39) D305G possibly damaging Het
Vmn2r52 T C 7: 9,903,058 (GRCm39) R457G probably damaging Het
Vti1a A C 19: 55,369,411 (GRCm39) N101T possibly damaging Het
Zfp236 A G 18: 82,686,762 (GRCm39) F259L probably benign Het
Other mutations in Nptx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02340:Nptx2 APN 5 144,493,056 (GRCm39) missense probably damaging 1.00
R0219:Nptx2 UTSW 5 144,484,950 (GRCm39) missense probably damaging 0.99
R0304:Nptx2 UTSW 5 144,490,460 (GRCm39) splice site probably benign
R0482:Nptx2 UTSW 5 144,490,269 (GRCm39) missense probably damaging 1.00
R1752:Nptx2 UTSW 5 144,492,171 (GRCm39) missense probably damaging 1.00
R1774:Nptx2 UTSW 5 144,490,248 (GRCm39) missense possibly damaging 0.67
R1793:Nptx2 UTSW 5 144,485,130 (GRCm39) missense probably benign
R2115:Nptx2 UTSW 5 144,492,216 (GRCm39) missense probably damaging 1.00
R4066:Nptx2 UTSW 5 144,493,122 (GRCm39) missense probably damaging 1.00
R4755:Nptx2 UTSW 5 144,483,250 (GRCm39) missense probably benign 0.01
R5238:Nptx2 UTSW 5 144,493,041 (GRCm39) missense probably damaging 0.96
R5497:Nptx2 UTSW 5 144,492,999 (GRCm39) missense probably damaging 1.00
R6379:Nptx2 UTSW 5 144,490,252 (GRCm39) missense probably damaging 1.00
R9148:Nptx2 UTSW 5 144,492,980 (GRCm39) missense probably benign 0.08
R9628:Nptx2 UTSW 5 144,490,261 (GRCm39) missense probably benign 0.22
R9673:Nptx2 UTSW 5 144,492,159 (GRCm39) missense possibly damaging 0.93
R9746:Nptx2 UTSW 5 144,484,950 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- AGTTCTGCTTGTGAACCTATCC -3'
(R):5'- CCACACAGCCTGCATTAGAG -3'

Sequencing Primer
(F):5'- TGTGAACCTATCCCAGCGTG -3'
(R):5'- ACAGCCTGCATTAGAGCTCCG -3'
Posted On 2014-12-04