|Institutional Source||Beutler Lab|
|Gene Name||protein-O-mannosyltransferase 2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5790 (G1)|
|Chromosomal Location||87106861-87147968 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 87127378 bp (GRCm38)|
|Amino Acid Change||Asparagine to Threonine at position 347 (N347T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000152370 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000037788] [ENSMUST00000222634]|
AA Change: N417T
PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
AA Change: N417T
AA Change: N347T
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|Meta Mutation Damage Score||0.9205|
|Coding Region Coverage||
|Validation Efficiency||99% (73/74)|
FUNCTION: This gene encodes an integral membrane protein that belongs to the dolichyl-phosphate-mannose-protein mannosyltransferase family. The encoded enzyme is found in the membrane of the endoplasmic reticulum. This protein is a component of the protein O-mannosyltransferase enzyme complex which is involved in modification of the protein alpha-dystroglycan. Mutations in the human gene are a cause of different forms of muscular dystrophy-dystroglycanopathy (MDDG), type A2 (also known as Walker-Warburg syndrome), type B2 and type C2 (also known as limb-girdle muscular dystrophy). [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for one knock-out allele die between E8.5 and E9.5 with abnormal Reichert's membrane and runting. Mice homozygous for another allele die before implantation and arrest at the morula stage. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pomt2||
(F):5'- TCAGTCAATAGAAAATGGGTGAACC -3'
(R):5'- GGAGCTTCCTCTTGAGTTGC -3'
(F):5'- GTGAACCACAGATGACAAGC -3'
(R):5'- TGCTCCCATTGCAGTGAGAAG -3'