|Institutional Source||Beutler Lab|
|Gene Name||polycystic kidney disease 2|
|Synonyms||C030034P18Rik, TRPP2, polycystin-2, PC2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7192 (G1)|
|Chromosomal Location||104459450-104505819 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 104486657 bp|
|Amino Acid Change||Valine to Alanine at position 518 (V518A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000084041 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000086831]|
|Predicted Effect||probably benign
AA Change: V518A
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: V518A
|Coding Region Coverage||
|Validation Efficiency||97% (72/74)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the polycystin protein family. The encoded protein is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. This protein interacts with polycystin 1, and they may be partners in a common signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2. [provided by RefSeq, Mar 2011]
PHENOTYPE: Homozygotes for targeted null mutations exhibit defects in cardiac septation, kidney and pancreatic cysts, impaired left-right axis determination, and late-gestation lethality. Heterozygotes show kidney and liver lesions and have reduced longevity. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pkd2||
(F):5'- TAAGGAAATGTTGGCTGCCGG -3'
(R):5'- ATCTGGCCATTTCAATCAGCC -3'
(F):5'- CCGGTCGTTTGCACATTTAGAGC -3'
(R):5'- TGGCCATTTCAATCAGCCTAAAAAGG -3'