|Institutional Source||Beutler Lab|
|Gene Name||dihydropyrimidinase-like 2|
|Synonyms||DRP2, Crmp2, Ulip2, TOAD-64|
|Is this an essential gene?||Possibly essential (E-score: 0.608)|
|Stock #||R7211 (G1)|
|Chromosomal Location||66802864-66868688 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 66829976 bp|
|Amino Acid Change||Asparagine to Serine at position 162 (N162S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022629 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022629]|
|Predicted Effect||probably damaging
AA Change: N162S
PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
AA Change: N162S
|Coding Region Coverage||
|Validation Efficiency||99% (84/85)|
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'- GGCCACACAGTATCCTGATTAG -3'
(R):5'- CTGTGCTGTTGTACTCAGGC -3'
(F):5'- CACAGTATCCTGATTAGAGGTTACGG -3'
(R):5'- GCTGTTGTACTCAGGCTCTCC -3'