|Institutional Source||Beutler Lab|
|Gene Name||prickle planar cell polarity protein 2|
|Synonyms||6230400G14Rik, mpk2, 6720451F06Rik|
|Is this an essential gene?||Possibly essential (E-score: 0.514)|
|Stock #||R2571 (G1)|
|Chromosomal Location||92370908-92706155 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 92705400 bp|
|Amino Acid Change||Glutamine to Arginine at position 25 (Q25R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000032093 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000032093]|
|Predicted Effect||probably benign
AA Change: Q25R
PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
AA Change: Q25R
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a homolog of Drosophila prickle. The exact function of this gene is not known, however, studies in mice suggest that it may be involved in seizure prevention. Mutations in this gene are associated with progressive myoclonic epilepsy type 5. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to electroconvulsive or PTZ-induced seizures. Mice heterozygous for a knock-out allele exhibit increased susceptibility to electroconvulsive seizures. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Prickle2||
(F):5'- TAGCAGATGTAGCTGGGCTC -3'
(R):5'- ACCTGGAATCACATGCCCTTC -3'
(F):5'- TGTAGCTGGGCTCTTAAAGGAAC -3'
(R):5'- GGAGAATCTGGTCCCAAGTC -3'