|Institutional Source||Beutler Lab|
|Gene Name||protein-O-mannose kinase|
|Is this an essential gene?||Possibly non essential (E-score: 0.300)|
|Stock #||R5572 (G1)|
|Chromosomal Location||25980604-25994133 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 25983190 bp|
|Amino Acid Change||Histidine to Leucine at position 245 (H245L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000053802 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000061850]|
|Predicted Effect||possibly damaging
AA Change: H245L
PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: H245L
|Meta Mutation Damage Score||0.2913|
|Coding Region Coverage||
|Validation Efficiency||100% (64/64)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that may be involved in the presentation of the laminin-binding O-linked carbohydrate chain of alpha-dystroglycan (a-DG), which forms transmembrane linkages between the extracellular matrix and the exoskeleton. Some pathogens use this O-linked carbohydrate unit for host entry. Loss of function compound heterozygous mutations in this gene were found in a human patient affected by the Walker-Warburg syndrome (WWS) phenotype. Mice lacking this gene contain misplaced neurons (heterotopia) in some regions of the brain, possibly from defects in neuronal migration. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for a gene trap insertion show hydrocephaly and cerebellar dysplasia. Mice also show learning defects, impaired motor strength and decreased sensitivity to pain. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pomk||
(F):5'- CTAGCACGTTCTGAGCAGTG -3'
(R):5'- TTAACTATCTGCATCACAGCCC -3'
(F):5'- CTTGCACGCCTTATGGATATCAAAC -3'
(R):5'- TGCATCACAGCCCCCTGG -3'