|Institutional Source||Beutler Lab|
|Gene Name||post-GPI attachment to proteins 1|
|Synonyms||PGAP1, D230012E17Rik, oto, 5033403E17Rik, 9030223K07Rik|
|Is this an essential gene?||Probably essential (E-score: 0.839)|
|Stock #||R1816 (G1)|
|Chromosomal Location||54472994-54557684 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 54492057 bp|
|Amino Acid Change||Leucine to Proline at position 753 (L753P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000095346 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000097739]|
|Predicted Effect||probably damaging
AA Change: L753P
PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
AA Change: L753P
|Meta Mutation Damage Score||0.7266|
|Coding Region Coverage||
|Validation Efficiency||99% (72/73)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene functions early in the glycosylphosphatidylinositol (GPI) biosynthetic pathway, catalyzing the inositol deacylation of GPI. The encoded protein is required for the production of GPI that can attach to proteins, and this may be an important factor in the transport of GPI-anchored proteins from the endoplasmic reticulum to the Golgi. Defects in this gene are a cause of mental retardation, autosomal recessive 42. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mutations in this gene result in a variety of forebrain, eye, jaw, craniofacial, ear, and vertebra defects that are background sensitive. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pgap1||
(F):5'- AATGCCACCTTTGCACCATC -3'
(R):5'- ATCAGCTCATGGATTGGAATGTCC -3'
(F):5'- CAATTTTCTGATATAACAGAGGGCTG -3'
(R):5'- CTTGTGACATAAGGGATCCTCAGC -3'