|Institutional Source||Beutler Lab|
|Gene Name||dihydropyrimidinase-like 2|
|Synonyms||DRP2, Crmp2, Ulip2, TOAD-64|
|Is this an essential gene?||Possibly essential (E-score: 0.555)|
|Stock #||R3615 (G1)|
|Chromosomal Location||66802864-66868688 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 66834370 bp (GRCm38)|
|Amino Acid Change||Histidine to Leucine at position 107 (H107L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022629 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022629]|
AA Change: H107L
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: H107L
|Meta Mutation Damage Score||0.2247|
|Coding Region Coverage||
|Validation Efficiency||98% (40/41)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the collapsin response mediator protein family. Collapsin response mediator proteins form homo- and hetero-tetramers and facilitate neuron guidance, growth and polarity. The encoded protein promotes microtubule assembly and is required for Sema3A-mediated growth cone collapse, and also plays a role in synaptic signaling through interactions with calcium channels. This gene has been implicated in multiple neurological disorders, and hyperphosphorylation of the encoded protein may play a key role in the development of Alzheimer's disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit abnormal dendritic patterning. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dpysl2||
(F):5'- TAAGCTGTAGTCCCAACTGCC -3'
(R):5'- GCCAAGTTTCTCCCTGTTGG -3'
(F):5'- ACACGCTTGCTCGAGGAAG -3'
(R):5'- GGTGCTCAGTTGGCTTAAGTGC -3'