|Institutional Source||Beutler Lab|
|Gene Name||polycystic kidney disease 1 like 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8052 (G1)|
|Chromosomal Location||8826708-8973266 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 8947315 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 531 (D531E)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000178195]|
AA Change: D531E
|Predicted Effect||possibly damaging
AA Change: D81E
PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: D81E
|Coding Region Coverage||
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 containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pkd1l1||
(F):5'- TGCTCATCTGCTCTGACTAGGG -3'
(R):5'- ATGTGGAGGACAGTGGTCTC -3'
(F):5'- CTCTGACTAGGGCAAGGGTAC -3'
(R):5'- ACAGTGGTCTCTGTGCCAG -3'