|Institutional Source||Beutler Lab|
|Gene Name||polycystin 1, transient receptor poteintial channel interacting|
|Synonyms||PC-1, polycystin-1, PC1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5664 (G1)|
|Chromosomal Location||24549834-24596508 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 24569371 bp|
|Amino Acid Change||Aspartic acid to Valine at position 701 (D701V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000049296 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000035565] [ENSMUST00000228745]|
|Predicted Effect||probably damaging
AA Change: D701V
PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
AA Change: D701V
|Predicted Effect||probably benign
|Coding Region Coverage||
|MGI Phenotype||Strain: Several; see below
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 glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous mutant embryos begin to die after embryonic day (E) 14.5. They develop edema by E13.5, pancreatic cysts by E15.5 and kidney cysts by E16.5. Heterozygous adults develop cysts of the kidneys (~20-30%) and the liver (~10%) late in life. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pkd1||
(F):5'- GTGCATGTCCCCTATATTACAATGTC -3'
(R):5'- GCTCTGTGACCAAAAGCAGC -3'
(F):5'- AATGTCCTGTTTGACTCAGCCATG -3'
(R):5'- CTCTGTGACCAAAAGCAGCTGTAG -3'