|Institutional Source||Beutler Lab|
|Gene Name||unc-5 netrin receptor B|
|Synonyms||Unc5h2, D10Bwg0792e, 6330415E02Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0026 (G1)|
|Chromosomal Location||60762593-60831581 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 60774592 bp (GRCm38)|
|Amino Acid Change||Isoleucine to Asparagine at position 482 (I482N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000077080 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000077925] [ENSMUST00000218637]|
|PDB Structure||Crystal structure of the UNC5H2 death domain [X-RAY DIFFRACTION]|
AA Change: I482N
PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: I482N
AA Change: I471N
PolyPhen 2 Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||93% (70/75)|
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 receptors. This particular protein mediates the repulsive effect of netrin-1 and is a vascular netrin receptor. This encoded protein is also in a group of proteins called dependence receptors (DpRs) which are involved in pro- and anti-apoptotic processes. Many DpRs are involved in embryogenesis and in cancer progression. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a severely hypomorphic allele exhibit background sensitive lethality during organogenesis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Unc5b||
(F):5'- CACACCTGAGCAATGGAACTGGAG -3'
(R):5'- CAGAACAGTGTAGCTGTCACCAGAG -3'
(F):5'- AACCAAAGGTGCCGCTG -3'
(R):5'- ATAGCAGTTGAGCCTTCCG -3'