|Institutional Source||Beutler Lab|
|Gene Name||neuropilin (NRP) and tolloid (TLL)-like 1|
|Is this an essential gene?||Probably non essential (E-score: 0.079)|
|Stock #||R1648 (G1)|
|Chromosomal Location||86394952-86501897 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 86500054 bp|
|Amino Acid Change||Tyrosine to Phenylalanine at position 528 (Y528F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000057340 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000058829]|
|Predicted Effect||probably damaging
AA Change: Y528F
PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
AA Change: Y528F
|Meta Mutation Damage Score||0.21|
|Coding Region Coverage||
|Validation Efficiency||95% (73/77)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a predicted transmembrane protein containing two extracellular CUB domains followed by a low-density lipoprotein class A (LDLa) domain. A similar gene in mice encodes a protein that plays a critical role in spatial learning and memory by regulating the function of synaptic N-methyl-D-aspartic acid receptor complexes in the hippocampus. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit depressed long term potentiation, reduced NMDAR excitatory postsynaptic potentiation, and decreased spartial learning and working memory. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Neto1||
(F):5'- TCTGACTTCACAGTCATAGTTGTTGCTC -3'
(R):5'- AGTCACTCCGTTACCATTGCATCC -3'
(F):5'- ACATATCAAGTTGAGTTATGCTGTG -3'
(R):5'- CCATTGCATCCACTATACTTCAAAG -3'