|Institutional Source||Beutler Lab|
|Gene Name||neuronal pentraxin 2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6379 (G1)|
|Chromosomal Location||144545902-144557478 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 144553442 bp|
|Amino Acid Change||Leucine to Proline at position 227 (L227P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000071687 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000071782]|
|Predicted Effect||probably damaging
AA Change: L227P
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L227P
|Coding Region Coverage||
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||
|Other mutations in Nptx2||
(F):5'- TGTCTCCTAGAGGAAGTCCC -3'
(R):5'- GGGTTATTGCCCCACTCTATCAG -3'
(F):5'- GTTTCCCACCAGAGTGTAAGC -3'
(R):5'- AGCACAATCTCGTTGGCTTG -3'