|Institutional Source||Beutler Lab|
|Gene Name||polycystic kidney disease 1 like 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7676 (G1)|
|Chromosomal Location||8826708-8973266 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 8962708 bp|
|Amino Acid Change||Valine to Isoleucine at position 166 (V166I)|
|Gene Model||predicted gene model for transcript(s):|
AA Change: V166I
|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'- GCCTCAGCAATAGACCACTG -3'
(R):5'- AATTTAAAGAGAGAAACCCTGTGCC -3'
(F):5'- CCACTGAGGGGGTAGAACTACATC -3'
(R):5'- CCAGCTACACCATTTAAGTGTATGC -3'