|Institutional Source||Beutler Lab|
|Gene Name||protein arginine N-methyltransferase 8|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7208 (G1)|
|Chromosomal Location||127689011-127769472 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 127689829 bp|
|Amino Acid Change||Arginine to Histidine at position 394 (R394H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000032500 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000032500]|
|Predicted Effect||possibly damaging
AA Change: R394H
PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: R394H
|Coding Region Coverage||
|Validation Efficiency||99% (76/77)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Arginine methylation is a widespread posttranslational modification mediated by arginine methyltransferases, such as PRMT8. Arginine methylation is involved in a number of cellular processes, including DNA repair, RNA transcription, signal transduction, protein compartmentalization, and possibly protein translation (Lee et al., 2005 [PubMed 16051612]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knockout allele exhibit abnormal Purkinje cell dendrite morphology, hyperactivity, limb grasping and gait abnormalities, and show reduced levels of acetylcholine and choline along with increased phosphatidylcholine levels in the cerebellum. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Prmt8||
(F):5'- GTATGCTTCCATCCTCAGAGCC -3'
(R):5'- AACTCCCGTGGCTACCTATC -3'
(F):5'- CCAGCCATAGCACGGAAGG -3'
(R):5'- GTGGCTACCTATCCCCATGG -3'