|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 #||R0315 (G1)|
|Chromosomal Location||104459450-104505819 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 104459850 bp|
|Amino Acid Change||Serine to Threonine at position 72 (S72T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000084041 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000086831]|
|Predicted Effect||possibly damaging
AA Change: S72T
PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
AA Change: S72T
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0758|
|Coding Region Coverage||
|Validation Efficiency||100% (42/42)|
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'- TCCGGGAAGAAAAGAACATGGCTCC -3'
(R):5'- AGCAGACAGCCACCCTTGTAGGAC -3'
(F):5'- AACATGGCTCCTGCGGC -3'
(R):5'- TGCACTGGACGCCAAGAG -3'