|Institutional Source||Beutler Lab|
|Gene Name||protein arginine N-methyltransferase 3|
|Synonyms||Hrmt1l3, 2010005E20Rik, 2410018A17Rik|
|Is this an essential gene?||Possibly essential (E-score: 0.679)|
|Stock #||R5586 (G1)|
|Chromosomal Location||49778346-49858265 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 49826751 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 369 (D369E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000032715 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000032715] [ENSMUST00000147401]|
|Predicted Effect||probably damaging
AA Change: D369E
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: D369E
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.264|
|Coding Region Coverage||
|Validation Efficiency||98% (101/103)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the protein arginine methyltransferase (PRMT) family. The encoded enzyme catalyzes the methylation of guanidino nitrogens of arginyl residues of proteins. The enzyme acts on 40S ribosomal protein S2 (rpS2), which is its major in-vivo substrate, and is involved in the proper maturation of the 80S ribosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for a hypomorphic gene trap allele exhibit a reduced embryonic size but survive birth and attain a normal size in adulthood. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Prmt3||
(F):5'- CACTGGGGTAACTCTATCTCCTG -3'
(R):5'- TTTTACCTGAACCAAGCATCTAGC -3'
(F):5'- GGGGTAACTCTATCTCCTGTCTTC -3'
(R):5'- CTTATGCAGGGAGTCCAAGCATC -3'