|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 #||IGL02988 (G1)|
|Chromosomal Location||104459450-104505819 bp(+) (GRCm38)|
|Type of Mutation||nonsense|
|DNA Base Change (assembly)||A to T at 104503605 bp|
|Amino Acid Change||Arginine to Stop codon at position 940 (R940*)|
|Ref Sequence||ENSEMBL: ENSMUSP00000084041 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000086831] [ENSMUST00000096452]|
|Predicted Effect||probably null
AA Change: R940*
AA Change: R940*
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.9755|
|Coding Region Coverage||
|Validation Efficiency||99% (71/72)|
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'- AATCCCTTGTCAGGATGCGC -3'
(R):5'- TGAACCACGGGTTTAAGTTTACG -3'
(F):5'- CTTGTCAGGATGCGCGACTG -3'
(R):5'- CATCATAATGCAGCCGGGG -3'