Incidental Mutation 'R5238:Nptx2'
ID 400488
Institutional Source Beutler Lab
Gene Symbol Nptx2
Ensembl Gene ENSMUSG00000059991
Gene Name neuronal pentraxin 2
Synonyms np2, narp
MMRRC Submission 042809-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5238 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 144482712-144494288 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 144493041 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 376 (I376T)
Ref Sequence ENSEMBL: ENSMUSP00000071687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071782]
AlphaFold O70340
Predicted Effect probably damaging
Transcript: ENSMUST00000071782
AA Change: I376T

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000071687
Gene: ENSMUSG00000059991
AA Change: I376T

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12b T A 12: 70,210,142 (GRCm39) probably null Het
Adamtsl5 C T 10: 80,181,192 (GRCm39) G63D probably damaging Het
Armc9 T A 1: 86,127,569 (GRCm39) M68K probably benign Het
Atad2 A C 15: 57,971,733 (GRCm39) H381Q possibly damaging Het
Bclaf1 T G 10: 20,208,130 (GRCm39) probably benign Het
Ccdc188 A G 16: 18,037,038 (GRCm39) E238G probably damaging Het
Cldn19 G T 4: 119,112,930 (GRCm39) C54F probably damaging Het
Clip1 T C 5: 123,785,946 (GRCm39) D246G probably damaging Het
Col20a1 T C 2: 180,640,379 (GRCm39) V512A probably damaging Het
Cyfip1 G T 7: 55,541,779 (GRCm39) A355S probably benign Het
Dffa T G 4: 149,188,760 (GRCm39) L18R probably benign Het
Dnah8 G A 17: 31,009,891 (GRCm39) E3761K probably damaging Het
Dusp10 A G 1: 183,769,210 (GRCm39) T59A possibly damaging Het
Eed T C 7: 89,626,173 (GRCm39) S67G probably benign Het
Fam181a C T 12: 103,282,392 (GRCm39) A99V probably benign Het
Gm12185 G A 11: 48,799,044 (GRCm39) T483I possibly damaging Het
Htr3b A T 9: 48,848,542 (GRCm39) C234* probably null Het
Kidins220 C A 12: 25,053,009 (GRCm39) T433K probably benign Het
Man2a1 T C 17: 64,943,502 (GRCm39) Y186H probably damaging Het
Mcm9 G T 10: 53,506,093 (GRCm39) S60R possibly damaging Het
Mst1r T A 9: 107,784,773 (GRCm39) C144S probably damaging Het
Nckap5 A G 1: 125,955,461 (GRCm39) C364R probably damaging Het
Or2a14 T C 6: 43,130,961 (GRCm39) S241P probably damaging Het
Otogl A T 10: 107,604,834 (GRCm39) C2191S probably damaging Het
Plxdc2 T A 2: 16,655,026 (GRCm39) F208L probably damaging Het
Robo3 A C 9: 37,328,175 (GRCm39) Y1339D probably damaging Het
Rsph9 G T 17: 46,446,008 (GRCm39) Y42* probably null Het
Slc39a1 T A 3: 90,156,702 (GRCm39) L86Q probably null Het
Slfn8 T C 11: 82,904,214 (GRCm39) D392G probably damaging Het
Tiprl A G 1: 165,043,337 (GRCm39) V263A probably benign Het
Tmub2 A G 11: 102,175,820 (GRCm39) probably benign Het
Trpm1 T A 7: 63,918,702 (GRCm39) F681I probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Uba3 A T 6: 97,178,896 (GRCm39) C68* probably null Het
Vmn1r158 T A 7: 22,489,799 (GRCm39) M137L probably benign Het
Vmn1r50 C T 6: 90,084,465 (GRCm39) A70V possibly damaging Het
Wwc1 T C 11: 35,766,723 (GRCm39) K511E probably benign Het
Zfp600 T C 4: 146,131,741 (GRCm39) probably null Het
Zng1 G T 19: 24,897,994 (GRCm39) T382K probably damaging 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
R2484:Nptx2 UTSW 5 144,493,155 (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
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'- TAAAGTGGGTGAGGCTTCAG -3'
(R):5'- TTGAAGTCCTCAGAACAGCCC -3'

Sequencing Primer
(F):5'- AGGCTTCAGGACCTGTGGAATATG -3'
(R):5'- TCAGAACAGCCCGATGGATC -3'
Posted On 2016-07-06