|Institutional Source||Beutler Lab|
|Gene Name||dihydropyrimidinase-like 2|
|Synonyms||DRP2, Crmp2, Ulip2, TOAD-64|
|Is this an essential gene?||Possibly essential (E-score: 0.696)|
|Stock #||R0491 (G1)|
|Chromosomal Location||66802864-66868688 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 66807962 bp|
|Amino Acid Change||Leucine to Glutamine at position 454 (L454Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022629 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022629]|
|Predicted Effect||probably damaging
AA Change: L454Q
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: L454Q
|Meta Mutation Damage Score||0.4612|
|Coding Region Coverage||
|Validation Efficiency||100% (65/65)|
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'- CACGCTCTGGACACACTGTACATC -3'
(R):5'- GCAAGGACAGACAGCCTTCTTCTC -3'
(F):5'- cccaactgtccatcttccc -3'
(R):5'- TTCCCTCAGGCTCTTGAGTA -3'