|Institutional Source||Beutler Lab|
|Gene Name||protein arginine N-methyltransferase 8|
|Is this an essential gene?||Probably non essential (E-score: 0.230)|
|Stock #||R6450 (G1)|
|Chromosomal Location||127689011-127769472 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 127732643 bp|
|Amino Acid Change||Isoleucine to Valine at position 85 (I85V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000032500 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000032500]|
|Predicted Effect||possibly damaging
AA Change: I85V
PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: I85V
|Coding Region Coverage||
|Validation Efficiency||97% (68/70)|
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'- GAGATAGGACACACAAACTTACCTG -3'
(R):5'- TTTTCTCCCTTCAGGTGAGCAG -3'
(F):5'- GCTCCAGGCCCCGTCTTAAC -3'
(R):5'- TGTCCACCATGTATCCAC -3'