|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 #||R3401 (G1)|
|Chromosomal Location||104459450-104505819 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 104480327 bp|
|Amino Acid Change||Isoleucine to Methionine at position 422 (I422M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000084041 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000086831]|
|Predicted Effect||possibly damaging
AA Change: I422M
PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: I422M
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||100% (30/30)|
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'- AGGCACCAGTCATCTTCCTG -3'
(R):5'- AGTCCTAAGGTGACAGGCTC -3'
(F):5'- TCATTAGGTGGATGTACACAAGTG -3'
(R):5'- AAGGTGACAGGCTCTTATATCCC -3'