|Institutional Source||Beutler Lab|
|Gene Name||polycystic kidney and hepatic disease 1|
|Is this an essential gene?||Probably non essential (E-score: 0.250)|
|Stock #||R0840 (G1)|
|Chromosomal Location||20057779-20618064 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 20350521 bp|
|Amino Acid Change||Isoleucine to Valine at position 2454 (I2454V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000085794 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000088448]|
|Predicted Effect||probably damaging
AA Change: I2454V
PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
AA Change: I2454V
|Meta Mutation Damage Score||0.134|
|Coding Region Coverage||
|Validation Efficiency||100% (51/51)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a mutation in this gene display variable progressive liver cysts and fibrosis, but do not display kidney cysts and are fertile. Mice homozygous for a hypomorphic and null allele display renal, pancreatic, billiary and liver cysts. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pkhd1||
(F):5'- AGCTCTAATCTTGTTTACCATCGGTCCT -3'
(R):5'- tgtattccATGTTTGGCATGTGAACCTT -3'
(F):5'- ATCGGTCCTGTCTGTTCAAAC -3'
(R):5'- TTTACTTGTGTGTTCTGACTACATT -3'