|Institutional Source||Beutler Lab|
|Gene Name||phosphatidylinositol glycan anchor biosynthesis, class V|
|Is this an essential gene?||Possibly essential (E-score: 0.742)|
|Stock #||R6885 (G1)|
|Chromosomal Location||133660387-133672647 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 133665481 bp|
|Amino Acid Change||Phenylalanine to Tyrosine at position 126 (F126Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000050647 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000062118] [ENSMUST00000067902]|
|Predicted Effect||probably damaging
AA Change: F126Y
PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
AA Change: F126Y
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||98% (58/59)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mannosyltransferase enzyme involved in the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is a complex glycolipid that functions as a membrane anchor for many proteins and plays a role in multiple cellular processes including protein sorting and signal transduction. The encoded protein is localized to the endoplasmic reticulum and transfers the second mannose to the GPI backbone. Mutations in this gene are associated with hyperphosphatasia mental retardation syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit complex congenital heart disease associated with heterotaxy, are runted, have thymus hypoplasia and show craniofacial and kidney defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pigv||
(F):5'- AAAAGCCTCTGCACTGGGAG -3'
(R):5'- TGGGATGCTGAACACTTCC -3'
(F):5'- TCACCAGCCCATTGGAGC -3'
(R):5'- CCTGTTTATCGCTGAGCACGG -3'