|Institutional Source||Beutler Lab|
|Gene Name||glyceronephosphate O-acyltransferase|
|Is this an essential gene?||Possibly non essential (E-score: 0.331)|
|Stock #||R7848 (G1)|
|Chromosomal Location||124863033-124890057 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 124886891 bp|
|Amino Acid Change||Glutamine to Lysine at position 626 (Q626K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034466 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034466] [ENSMUST00000161986]|
|Predicted Effect||possibly damaging
AA Change: Q626K
PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: Q626K
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||100% (62/62)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme located in the peroxisomal membrane which is essential to the synthesis of ether phospholipids. Mutations in this gene are associated with rhizomelic chondrodysplasia punctata. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygous mutant mice lack plasmalogens due to inactivation of ether lipid synthesis. Mutant mice exhibit dwarfism, male infertility, defects in eye development, and optic nerve hypoplasia. While some mice die prematurely, others, particularly females, are long-lived. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gnpat||
(F):5'- TTGCATGAAGAGGACTACTTCGG -3'
(R):5'- CAGTCTGAGGTCAAGCCAAG -3'
(F):5'- CGGTGAGAAGGAATACTTGGTTGC -3'
(R):5'- TCTGAGGTCAAGCCAAGCATAG -3'