|Institutional Source||Beutler Lab|
|Gene Name||pleckstrin homology domain containing, family M (with RUN domain) member 1|
|Synonyms||B2, D330036J23Rik, AP162|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5975 (G1)|
|Chromosomal Location||103364275-103412687 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 103376691 bp (GRCm38)|
|Amino Acid Change||Valine to Glutamic Acid at position 818 (V818E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000047327 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000041272]|
AA Change: V818E
PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: V818E
|Meta Mutation Damage Score||0.1190|
|Coding Region Coverage||
|Validation Efficiency||98% (80/82)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is essential for bone resorption, and may play a critical role in vesicular transport in the osteoclast. Mutations in this gene are associated with autosomal recessive osteopetrosis type 6 (OPTB6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased trabecular bone mass and decreased bone resorption capacity of osteoclasts caused by defects in the peripheral positioning and secretion of lysosomes. Mice homozygous for a gene trap insertion do not exhibit any detectable phenotype. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Plekhm1||
(F):5'- GTCCCACCCAGTATTAGGAGATG -3'
(R):5'- CCTTCTTCAAAATCATCACGGC -3'
(F):5'- CCACCCAGTATTAGGAGATGTCAAG -3'
(R):5'- CCAAGGCCGTCCTGAAACTG -3'