|Institutional Source||Beutler Lab|
|Gene Name||polycystic kidney disease 2-like 1|
|Synonyms||PCL, PKD2L, Pkdl, polycystin-L, TRPP3|
|Is this an essential gene?||Probably non essential (E-score: 0.079)|
|Stock #||R5380 (G1)|
|Chromosomal Location||44147637-44192442 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 44157732 bp|
|Amino Acid Change||Tyrosine to Histidine at position 128 (Y128H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000045675 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000042026]|
|Predicted Effect||probably benign
AA Change: Y128H
PolyPhen 2 Score 0.328 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: Y128H
|Predicted Effect||noncoding transcript
|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. The encoded protein contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. This protein functions as a calcium-regulated nonselective cation channel. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased chorda tympani nerve response to sour tastants. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pkd2l1||
(F):5'- TTTGCCCTGGTTCCAGACTG -3'
(R):5'- TTTCCCTAAAACATCTCCTGGAAC -3'
(F):5'- GGTTCCAGACTGACCCTCTG -3'
(R):5'- TGGAACCCCTAGTGGTACCATC -3'