Incidental Mutation 'IGL00930:Prmt3'
ID 27824
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prmt3
Ensembl Gene ENSMUSG00000030505
Gene Name protein arginine N-methyltransferase 3
Synonyms 2410018A17Rik, 2010005E20Rik, Hrmt1l3
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.428) question?
Stock # IGL00930
Quality Score
Status
Chromosome 7
Chromosomal Location 49428094-49508013 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 49441757 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 245 (Y245N)
Ref Sequence ENSEMBL: ENSMUSP00000032715 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032715] [ENSMUST00000147401]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000032715
AA Change: Y245N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032715
Gene: ENSMUSG00000030505
AA Change: Y245N

DomainStartEndE-ValueType
low complexity region 22 36 N/A INTRINSIC
ZnF_C2H2 46 69 2.41e1 SMART
coiled coil region 156 191 N/A INTRINSIC
Pfam:PRMT5 212 508 5.7e-8 PFAM
Pfam:Methyltransf_9 220 392 9.3e-9 PFAM
Pfam:MTS 242 326 5.4e-7 PFAM
Pfam:PrmA 245 343 4.3e-13 PFAM
Pfam:Methyltransf_31 250 407 8.8e-11 PFAM
Pfam:Methyltransf_18 252 360 2.5e-11 PFAM
Pfam:Methyltransf_11 257 356 1.1e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145666
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146052
Predicted Effect probably benign
Transcript: ENSMUST00000147401
SMART Domains Protein: ENSMUSP00000115155
Gene: ENSMUSG00000030505

DomainStartEndE-ValueType
low complexity region 22 36 N/A INTRINSIC
PDB:1WIR|A 38 64 1e-13 PDB
Blast:ZnF_C2H2 46 64 1e-5 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207216
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 T C 7: 119,191,533 (GRCm39) S534P possibly damaging Het
Adamts15 G A 9: 30,813,349 (GRCm39) P939S probably damaging Het
Alms1 T C 6: 85,578,292 (GRCm39) S207P probably damaging Het
Chd7 A G 4: 8,805,181 (GRCm39) K747E probably damaging Het
Dock5 G T 14: 68,008,526 (GRCm39) N1457K probably damaging Het
Donson T C 16: 91,479,479 (GRCm39) E323G possibly damaging Het
Epc1 T A 18: 6,449,196 (GRCm39) M434L probably benign Het
Fcer1a A G 1: 173,050,100 (GRCm39) probably benign Het
Hemgn A T 4: 46,396,383 (GRCm39) C284* probably null Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Or7g34 A G 9: 19,478,471 (GRCm39) S67P probably damaging Het
Pcdh15 G A 10: 74,466,530 (GRCm39) E1450K probably benign Het
Pfpl A T 19: 12,407,009 (GRCm39) H420L probably benign Het
Pitpnm2 A G 5: 124,259,726 (GRCm39) probably benign Het
Pole2 A G 12: 69,273,219 (GRCm39) probably benign Het
Rpl10a T C 17: 28,547,981 (GRCm39) Y41H probably damaging Het
Tpst1 A T 5: 130,130,975 (GRCm39) K148N probably benign Het
Vmn1r199 A G 13: 22,567,029 (GRCm39) T108A possibly damaging Het
Wdr7 T A 18: 63,873,315 (GRCm39) C525* probably null Het
Zfp646 A G 7: 127,478,302 (GRCm39) T160A possibly damaging Het
Other mutations in Prmt3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01444:Prmt3 APN 7 49,430,120 (GRCm39) missense probably benign 0.00
IGL01688:Prmt3 APN 7 49,498,480 (GRCm39) splice site probably null
IGL02041:Prmt3 APN 7 49,478,711 (GRCm39) missense possibly damaging 0.91
IGL02304:Prmt3 APN 7 49,476,485 (GRCm39) missense probably benign 0.44
IGL02389:Prmt3 APN 7 49,498,506 (GRCm39) nonsense probably null
IGL02879:Prmt3 APN 7 49,467,811 (GRCm39) missense probably benign 0.39
K7894:Prmt3 UTSW 7 49,476,459 (GRCm39) missense probably damaging 1.00
R0616:Prmt3 UTSW 7 49,437,076 (GRCm39) missense probably damaging 1.00
R0667:Prmt3 UTSW 7 49,441,743 (GRCm39) missense probably damaging 1.00
R1170:Prmt3 UTSW 7 49,498,295 (GRCm39) critical splice donor site probably null
R1343:Prmt3 UTSW 7 49,467,856 (GRCm39) missense probably benign 0.19
R1562:Prmt3 UTSW 7 49,476,602 (GRCm39) missense probably benign 0.00
R1614:Prmt3 UTSW 7 49,476,467 (GRCm39) missense possibly damaging 0.95
R1777:Prmt3 UTSW 7 49,448,094 (GRCm39) missense possibly damaging 0.92
R3113:Prmt3 UTSW 7 49,431,760 (GRCm39) missense probably damaging 1.00
R4170:Prmt3 UTSW 7 49,476,524 (GRCm39) missense probably benign 0.01
R4403:Prmt3 UTSW 7 49,430,105 (GRCm39) missense probably damaging 1.00
R4463:Prmt3 UTSW 7 49,467,837 (GRCm39) missense probably damaging 1.00
R4962:Prmt3 UTSW 7 49,476,557 (GRCm39) missense probably benign 0.00
R5144:Prmt3 UTSW 7 49,435,883 (GRCm39) missense possibly damaging 0.48
R5364:Prmt3 UTSW 7 49,498,554 (GRCm39) missense probably damaging 1.00
R5586:Prmt3 UTSW 7 49,476,499 (GRCm39) missense probably damaging 1.00
R5624:Prmt3 UTSW 7 49,430,082 (GRCm39) missense probably damaging 0.97
R5820:Prmt3 UTSW 7 49,498,554 (GRCm39) missense probably damaging 1.00
R5992:Prmt3 UTSW 7 49,478,695 (GRCm39) missense probably benign 0.00
R6931:Prmt3 UTSW 7 49,478,764 (GRCm39) missense probably benign 0.00
R7117:Prmt3 UTSW 7 49,467,843 (GRCm39) missense probably benign 0.00
R7889:Prmt3 UTSW 7 49,437,049 (GRCm39) missense possibly damaging 0.87
R8298:Prmt3 UTSW 7 49,507,186 (GRCm39) missense probably benign
R8831:Prmt3 UTSW 7 49,478,729 (GRCm39) missense probably null 0.14
R9053:Prmt3 UTSW 7 49,430,104 (GRCm39) missense probably damaging 1.00
R9333:Prmt3 UTSW 7 49,456,308 (GRCm39) missense probably damaging 0.98
X0064:Prmt3 UTSW 7 49,431,722 (GRCm39) nonsense probably null
Posted On 2013-04-17