|Institutional Source||Beutler Lab|
|Gene Name||prenyl (solanesyl) diphosphate synthase, subunit 2|
|Synonyms||5430420P03Rik, kd, mDLP1, PLMP|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7765 (G1)|
|Chromosomal Location||43221486-43464882 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 43464632 bp|
|Amino Acid Change||Serine to Phenylalanine at position 352 (S352F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000124864 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000159139]|
|Predicted Effect||probably benign
AA Change: S352F
PolyPhen 2 Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: S352F
|Coding Region Coverage||
|Validation Efficiency||100% (62/62)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an enzyme that synthesizes the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. Defects in this gene are a cause of coenzyme Q10 deficiency.[provided by RefSeq, Oct 2009]
PHENOTYPE: Mutations in this gene result in renal abnormalities leading to early death. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pdss2||
(F):5'- AAAACACTGTCTGAGGTGGTTTTG -3'
(R):5'- ACCTGGAATGGTAGTGTTTCC -3'
(F):5'- GAGACAAAGTCTTTTGCATCCCTGG -3'
(R):5'- CAGGGTTTCTCAGAGTAACCAGC -3'