|Institutional Source||Beutler Lab|
|Gene Name||netrin 4|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7240 (G1)|
|Chromosomal Location||93640681-93747207 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 93745741 bp|
|Amino Acid Change||Histidine to Arginine at position 592 (H592R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000020204 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020204]|
|Predicted Effect||probably damaging
AA Change: H592R
PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
AA Change: H592R
|Coding Region Coverage||
|Validation Efficiency||96% (50/52)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the netrin family of proteins, which function in various biological processes including axon guidance, tumorogenesis, and angiogenesis. Netrins are laminin-related proteins that have an N-terminal laminin-type domain, epidermal growth factor-like repeat domain, and a positively charged heparin-binding domain at the C-terminus. The protein encoded by this gene is involved in processes including neurite growth and migration, angiogenesis and mural cell adhesion to endothelial cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased cell proliferation in the cornea without an increase in corneal thickness and increased microvessel branching in the middle levels of the retina. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ntn4||
(F):5'- ATGTATGGAACTGCTAAAGCCGC -3'
(R):5'- ATTAGACTTGTGTATCTGCTACCC -3'
(F):5'- AGCCGCAGTACCTCCTTTAATAG -3'
(R):5'- TACCCAGAGAAAAGCCCTTGTGTG -3'