Incidental Mutation 'R0925:Prmt8'
ID 83140
Institutional Source Beutler Lab
Gene Symbol Prmt8
Ensembl Gene ENSMUSG00000030350
Gene Name protein arginine N-methyltransferase 8
Synonyms Hrmt1l3, Hrmt1l4
MMRRC Submission 039072-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0925 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 127665972-127746430 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127674776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 284 (K284R)
Ref Sequence ENSEMBL: ENSMUSP00000032500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032500]
AlphaFold Q6PAK3
Predicted Effect probably benign
Transcript: ENSMUST00000032500
AA Change: K284R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000032500
Gene: ENSMUSG00000030350
AA Change: K284R

DomainStartEndE-ValueType
low complexity region 26 44 N/A INTRINSIC
Pfam:PRMT5 80 368 4.5e-7 PFAM
Pfam:PrmA 102 200 2e-10 PFAM
Pfam:Methyltransf_31 110 274 7.3e-9 PFAM
Pfam:Methyltransf_18 111 215 9.9e-8 PFAM
Pfam:Methyltransf_11 116 215 6.2e-8 PFAM
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype 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
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l T C 8: 44,079,340 (GRCm39) I295V probably benign Het
Adam5 T C 8: 25,302,441 (GRCm39) Q101R probably benign Het
C2cd4c T C 10: 79,448,584 (GRCm39) N188D probably benign Het
Cdc27 A G 11: 104,416,875 (GRCm39) probably null Het
Cdh11 T A 8: 103,361,356 (GRCm39) I661L probably damaging Het
Cimip1 T A 2: 173,367,867 (GRCm39) S47T probably benign Het
Csmd1 A G 8: 16,760,634 (GRCm39) I167T probably benign Het
Dennd3 T G 15: 73,405,284 (GRCm39) F346V probably damaging Het
Dis3l A T 9: 64,248,412 (GRCm39) M1K probably null Het
Dnajb6 A T 5: 29,957,398 (GRCm39) K60I probably damaging Het
Dock10 T A 1: 80,514,657 (GRCm39) H1421L probably benign Het
Elmod3 A T 6: 72,545,921 (GRCm39) C274S probably damaging Het
Eme1 T C 11: 94,541,558 (GRCm39) E88G probably damaging Het
Fam227a A T 15: 79,505,006 (GRCm39) M475K probably benign Het
Frem2 T C 3: 53,561,394 (GRCm39) I1038V probably benign Het
Gabpb1 T A 2: 126,494,185 (GRCm39) N147Y probably damaging Het
Gmnc A G 16: 26,779,173 (GRCm39) L278P probably benign Het
Gpr153 A G 4: 152,366,331 (GRCm39) T299A probably benign Het
H2-M11 T C 17: 36,858,353 (GRCm39) V49A probably benign Het
Hemgn T A 4: 46,397,049 (GRCm39) K62N probably damaging Het
Hormad2 G A 11: 4,377,297 (GRCm39) T47M probably damaging Het
Iqcf6 A G 9: 106,504,500 (GRCm39) T55A probably benign Het
Itgam T C 7: 127,711,410 (GRCm39) F705L probably benign Het
Klk1 T A 7: 43,878,240 (GRCm39) probably null Het
Myo1f A T 17: 33,797,107 (GRCm39) I123F probably damaging Het
Nup58 T C 14: 60,457,590 (GRCm39) T538A probably damaging Het
Or52j3 T A 7: 102,836,030 (GRCm39) L74* probably null Het
Or5p81 C T 7: 108,267,400 (GRCm39) T259I probably benign Het
Pdzd2 C T 15: 12,399,356 (GRCm39) R790H probably damaging Het
Pigv T C 4: 133,389,960 (GRCm39) K74R probably benign Het
Rsl1d1 A T 16: 11,017,553 (GRCm39) Y138N probably damaging Het
Scara5 AC ACC 14: 66,000,167 (GRCm39) probably benign Het
Smc4 T A 3: 68,913,548 (GRCm39) probably benign Het
Spta1 G A 1: 174,001,992 (GRCm39) V41I possibly damaging Het
Tdrd7 C A 4: 46,025,758 (GRCm39) N859K probably damaging Het
Vps13d T G 4: 144,883,121 (GRCm39) D824A probably damaging Het
Wdfy2 A T 14: 63,167,675 (GRCm39) probably null Het
Other mutations in Prmt8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02122:Prmt8 APN 6 127,667,680 (GRCm39) missense probably benign 0.17
IGL02178:Prmt8 APN 6 127,674,770 (GRCm39) missense probably benign 0.06
IGL02526:Prmt8 APN 6 127,688,786 (GRCm39) missense probably damaging 0.96
IGL03010:Prmt8 APN 6 127,706,498 (GRCm39) missense probably benign 0.09
IGL03037:Prmt8 APN 6 127,680,940 (GRCm39) missense possibly damaging 0.75
R0096:Prmt8 UTSW 6 127,709,590 (GRCm39) splice site probably benign
R0254:Prmt8 UTSW 6 127,688,771 (GRCm39) missense probably damaging 1.00
R0355:Prmt8 UTSW 6 127,688,837 (GRCm39) nonsense probably null
R1606:Prmt8 UTSW 6 127,666,799 (GRCm39) nonsense probably null
R1716:Prmt8 UTSW 6 127,703,486 (GRCm39) critical splice donor site probably null
R3789:Prmt8 UTSW 6 127,688,110 (GRCm39) missense probably damaging 1.00
R3790:Prmt8 UTSW 6 127,688,110 (GRCm39) missense probably damaging 1.00
R3958:Prmt8 UTSW 6 127,709,707 (GRCm39) missense probably benign 0.00
R5022:Prmt8 UTSW 6 127,688,126 (GRCm39) missense possibly damaging 0.92
R5143:Prmt8 UTSW 6 127,709,677 (GRCm39) missense probably benign
R5635:Prmt8 UTSW 6 127,745,692 (GRCm39) missense probably damaging 1.00
R5816:Prmt8 UTSW 6 127,674,701 (GRCm39) missense probably benign 0.09
R5959:Prmt8 UTSW 6 127,706,381 (GRCm39) missense probably damaging 1.00
R6267:Prmt8 UTSW 6 127,688,767 (GRCm39) missense probably damaging 0.99
R6296:Prmt8 UTSW 6 127,688,767 (GRCm39) missense probably damaging 0.99
R6450:Prmt8 UTSW 6 127,709,606 (GRCm39) missense possibly damaging 0.71
R6603:Prmt8 UTSW 6 127,706,376 (GRCm39) missense probably benign 0.00
R7208:Prmt8 UTSW 6 127,666,792 (GRCm39) missense possibly damaging 0.81
R7629:Prmt8 UTSW 6 127,666,846 (GRCm39) nonsense probably null
R7719:Prmt8 UTSW 6 127,706,466 (GRCm39) missense probably damaging 0.97
R8313:Prmt8 UTSW 6 127,666,813 (GRCm39) missense probably benign
R8346:Prmt8 UTSW 6 127,688,810 (GRCm39) missense probably damaging 1.00
R8404:Prmt8 UTSW 6 127,666,825 (GRCm39) missense possibly damaging 0.93
R8483:Prmt8 UTSW 6 127,680,976 (GRCm39) splice site probably null
R8843:Prmt8 UTSW 6 127,706,462 (GRCm39) missense probably damaging 0.99
X0020:Prmt8 UTSW 6 127,674,734 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TATGAGGCACCTCTCAAGGCAGAC -3'
(R):5'- GCCACTCCAACTTGCTTTAGGGAC -3'

Sequencing Primer
(F):5'- cgtgtgttggaaatgtggg -3'
(R):5'- TAGGGACATGTGGTCTCCTAAAC -3'
Posted On 2013-11-08