Incidental Mutation 'R9755:Prmt6'
ID 732669
Institutional Source Beutler Lab
Gene Symbol Prmt6
Ensembl Gene ENSMUSG00000049300
Gene Name protein arginine N-methyltransferase 6
Synonyms Hrmt1l6
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9755 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 110153425-110158314 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 110157359 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 310 (L310R)
Ref Sequence ENSEMBL: ENSMUSP00000140836 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106567] [ENSMUST00000168412] [ENSMUST00000190378]
AlphaFold Q6NZB1
Predicted Effect probably damaging
Transcript: ENSMUST00000106567
AA Change: L310R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102177
Gene: ENSMUSG00000049300
AA Change: L310R

DomainStartEndE-ValueType
low complexity region 15 35 N/A INTRINSIC
Pfam:PRMT5 42 347 5.3e-9 PFAM
Pfam:Met_10 50 206 6.7e-8 PFAM
Pfam:Methyltransf_9 57 218 2.6e-8 PFAM
Pfam:PrmA 70 187 1.6e-10 PFAM
Pfam:MTS 75 189 8.8e-7 PFAM
Pfam:Methyltransf_18 85 191 1.8e-8 PFAM
Pfam:Methyltransf_11 90 188 6.6e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000168412
AA Change: L310R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129801
Gene: ENSMUSG00000049300
AA Change: L310R

DomainStartEndE-ValueType
low complexity region 15 35 N/A INTRINSIC
Pfam:PRMT5 42 347 1.3e-10 PFAM
Pfam:Met_10 51 184 1.2e-7 PFAM
Pfam:Methyltransf_9 57 218 2.6e-8 PFAM
Pfam:PrmA 70 187 1.4e-10 PFAM
Pfam:MTS 75 194 5.8e-8 PFAM
Pfam:Methyltransf_18 85 192 4.2e-13 PFAM
Pfam:Methyltransf_26 86 191 6e-10 PFAM
Pfam:Methyltransf_11 90 188 5.9e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000190378
AA Change: L310R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140836
Gene: ENSMUSG00000049300
AA Change: L310R

DomainStartEndE-ValueType
low complexity region 15 35 N/A INTRINSIC
Pfam:PRMT5 42 347 1.3e-10 PFAM
Pfam:Met_10 51 184 1.2e-7 PFAM
Pfam:Methyltransf_9 57 218 2.6e-8 PFAM
Pfam:PrmA 70 187 1.4e-10 PFAM
Pfam:MTS 75 194 5.8e-8 PFAM
Pfam:Methyltransf_18 85 192 4.2e-13 PFAM
Pfam:Methyltransf_26 86 191 6e-10 PFAM
Pfam:Methyltransf_11 90 188 5.9e-7 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.1%
  • 20x: 97.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the arginine N-methyltransferase family, which catalyze the sequential transfer of methyl group from S-adenosyl-L-methionine to the side chain nitrogens of arginine residues within proteins, to form methylated arginine derivatives and S-adenosyl-L-homocysteine. This protein can catalyze both, the formation of omega-N monomethylarginine and asymmetrical dimethylarginine, with a strong preference for the latter. It specifically mediates the asymmetric dimethylation of Arg2 of histone H3, and the methylated form represents a specific tag for epigenetic transcriptional repression. This protein also forms a complex with, and methylates DNA polymerase beta, resulting in stimulation of polymerase activity by enhancing DNA binding and processivity. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased mouse embryonic fibroblast proliferation and early cellular replicative senescence. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 A T 14: 54,889,292 (GRCm39) M774K probably damaging Het
Adamts9 T C 6: 92,856,922 (GRCm39) R906G probably benign Het
Adgrl4 A T 3: 151,216,418 (GRCm39) T534S probably benign Het
Amph A T 13: 19,297,325 (GRCm39) D357V probably damaging Het
Arhgap33 C T 7: 30,227,926 (GRCm39) V452I possibly damaging Het
B4galnt2 G A 11: 95,774,801 (GRCm39) Q160* probably null Het
C1galt1 T G 6: 7,867,019 (GRCm39) N288K probably benign Het
Cacna1c T C 6: 118,651,559 (GRCm39) D967G probably damaging Het
Cacul1 C T 19: 60,533,955 (GRCm39) E216K probably damaging Het
Cenpq A T 17: 41,243,712 (GRCm39) S45R probably benign Het
Cfap54 T A 10: 92,757,230 (GRCm39) M2216L unknown Het
Cfhr1 A G 1: 139,487,889 (GRCm39) F3S probably benign Het
Csf2rb T G 15: 78,232,824 (GRCm39) Y710* probably null Het
Dhh A G 15: 98,792,939 (GRCm39) V107A possibly damaging Het
Etl4 A T 2: 20,790,048 (GRCm39) T849S probably benign Het
Gnrh1 G A 14: 67,986,699 (GRCm39) E78K possibly damaging Het
Golga3 A G 5: 110,340,847 (GRCm39) T514A probably benign Het
Gramd1c T A 16: 43,803,879 (GRCm39) K393N probably benign Het
Kcp T C 6: 29,492,460 (GRCm39) Y844C probably damaging Het
Lrrc15 T A 16: 30,093,147 (GRCm39) H64L possibly damaging Het
Mak G T 13: 41,199,623 (GRCm39) Q339K probably benign Het
Mdfic G T 6: 15,799,758 (GRCm39) C295F probably damaging Het
Mdfic2 A T 6: 98,225,147 (GRCm39) N45K probably benign Het
Mfsd14b C A 13: 65,221,414 (GRCm39) V293L probably benign Het
Miip A T 4: 147,950,319 (GRCm39) Y92* probably null Het
Mycbp2 A T 14: 103,551,806 (GRCm39) S175T probably benign Het
Nacad A G 11: 6,549,374 (GRCm39) probably null Het
Ndnf T G 6: 65,680,502 (GRCm39) D260E probably benign Het
Nphp1 G A 2: 127,595,951 (GRCm39) Q505* probably null Het
Or12e7 C A 2: 87,287,719 (GRCm39) A70E probably damaging Het
Or8g29-ps1 A G 9: 39,200,970 (GRCm39) V72A possibly damaging Het
Plcg1 G A 2: 160,573,780 (GRCm39) G15D probably benign Het
Ppm1h A G 10: 122,638,165 (GRCm39) Y145C probably damaging Het
Prickle2 C T 6: 92,399,319 (GRCm39) C186Y probably damaging Het
Psg25 A T 7: 18,260,460 (GRCm39) I146N probably benign Het
Sapcd1 A G 17: 35,245,400 (GRCm39) S128P probably benign Het
Scart2 T A 7: 139,841,544 (GRCm39) probably null Het
Sema3b T C 9: 107,478,784 (GRCm39) S331G probably damaging Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Skil A G 3: 31,151,544 (GRCm39) E22G probably benign Het
Slc13a1 T C 6: 24,134,407 (GRCm39) I159V probably benign Het
Slc44a4 A G 17: 35,136,331 (GRCm39) I41V probably benign Het
Taar2 T C 10: 23,817,038 (GRCm39) F193L probably damaging Het
Taar8a A G 10: 23,952,995 (GRCm39) I200V probably benign Het
Trpc4 A G 3: 54,223,215 (GRCm39) Y717C probably damaging Het
Vmn2r116 A T 17: 23,620,065 (GRCm39) T600S probably damaging Het
Vwa1 G A 4: 155,857,336 (GRCm39) P154L probably damaging Het
Zfp318 A G 17: 46,722,055 (GRCm39) T1353A probably damaging Het
Zfp830 C T 11: 82,655,805 (GRCm39) T203I possibly damaging Het
Other mutations in Prmt6
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0029:Prmt6 UTSW 3 110,157,214 (GRCm39) missense probably benign 0.16
R0928:Prmt6 UTSW 3 110,157,998 (GRCm39) missense probably damaging 1.00
R1672:Prmt6 UTSW 3 110,157,887 (GRCm39) missense possibly damaging 0.79
R1748:Prmt6 UTSW 3 110,157,683 (GRCm39) missense probably benign
R3765:Prmt6 UTSW 3 110,157,510 (GRCm39) nonsense probably null
R3835:Prmt6 UTSW 3 110,158,121 (GRCm39) missense possibly damaging 0.75
R4027:Prmt6 UTSW 3 110,157,257 (GRCm39) missense probably damaging 0.99
R6236:Prmt6 UTSW 3 110,157,214 (GRCm39) missense probably benign 0.16
R7164:Prmt6 UTSW 3 110,157,680 (GRCm39) missense probably benign
R7658:Prmt6 UTSW 3 110,157,701 (GRCm39) missense possibly damaging 0.51
R7821:Prmt6 UTSW 3 110,158,303 (GRCm39) start gained probably benign
R8178:Prmt6 UTSW 3 110,158,140 (GRCm39) missense probably damaging 1.00
R8546:Prmt6 UTSW 3 110,158,034 (GRCm39) missense possibly damaging 0.67
R8927:Prmt6 UTSW 3 110,158,248 (GRCm39) missense probably benign
R8928:Prmt6 UTSW 3 110,158,248 (GRCm39) missense probably benign
R9015:Prmt6 UTSW 3 110,157,214 (GRCm39) missense probably benign 0.16
Z1176:Prmt6 UTSW 3 110,157,446 (GRCm39) missense probably benign 0.22
Predicted Primers PCR Primer
(F):5'- CATGGCAAAGTCTTTGGTCTTTTC -3'
(R):5'- ATCGTGGTGCAGGATCTGTC -3'

Sequencing Primer
(F):5'- AAAGTCTTTGGTCTTTTCCTCATGG -3'
(R):5'- TCCGGAGAGGACGTGCTG -3'
Posted On 2022-11-14