Incidental Mutation 'R5143:Prmt8'
ID 396519
Institutional Source Beutler Lab
Gene Symbol Prmt8
Ensembl Gene ENSMUSG00000030350
Gene Name protein arginine N-methyltransferase 8
Synonyms Hrmt1l3, Hrmt1l4
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5143 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 127665972-127746430 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127709677 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 61 (M61T)
Ref Sequence ENSEMBL: ENSMUSP00000032500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032500]
AlphaFold Q6PAK3
Predicted Effect probably benign
Transcript: ENSMUST00000032500
AA Change: M61T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000032500
Gene: ENSMUSG00000030350
AA Change: M61T

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik C T 5: 109,887,064 (GRCm39) probably null Het
Abcc2 T C 19: 43,810,100 (GRCm39) I886T probably benign Het
Adrb2 T C 18: 62,311,847 (GRCm39) Y326C probably damaging Het
Aplp1 G A 7: 30,140,548 (GRCm39) R334C probably damaging Het
AY358078 T C 14: 52,040,006 (GRCm39) S39P unknown Het
Bpifb2 A T 2: 153,720,424 (GRCm39) D61V probably damaging Het
Caap1 A T 4: 94,389,619 (GRCm39) N238K probably damaging Het
Cfap54 A G 10: 92,865,020 (GRCm39) V726A possibly damaging Het
Chrna7 T C 7: 62,755,895 (GRCm39) Y217C probably damaging Het
Crocc T A 4: 140,768,350 (GRCm39) T414S probably benign Het
Cyp2a12 A G 7: 26,736,036 (GRCm39) I482V probably benign Het
Dnah6 A T 6: 73,158,744 (GRCm39) F620I possibly damaging Het
Eogt A G 6: 97,102,545 (GRCm39) L256P probably damaging Het
F5 A G 1: 164,039,397 (GRCm39) I2002M probably damaging Het
Foxp1 A G 6: 98,922,493 (GRCm39) probably null Het
Fut8 A G 12: 77,411,983 (GRCm39) D111G probably benign Het
Golgb1 C T 16: 36,719,051 (GRCm39) A319V probably benign Het
Hoxd3 C T 2: 74,576,716 (GRCm39) R39C probably damaging Het
Mfng C T 15: 78,648,588 (GRCm39) R163H probably benign Het
Or52b1 T A 7: 104,978,731 (GRCm39) I223F probably damaging Het
Pate8 T A 9: 36,493,200 (GRCm39) N41Y probably benign Het
Pcdhb2 A G 18: 37,429,785 (GRCm39) Y586C probably damaging Het
Plcd1 G A 9: 118,903,519 (GRCm39) Q442* probably null Het
Plppr5 A G 3: 117,419,552 (GRCm39) T207A probably benign Het
Pomt1 C A 2: 32,144,341 (GRCm39) A709E probably benign Het
Ptpn23 A G 9: 110,214,506 (GRCm39) probably benign Het
Sbf2 T A 7: 110,021,747 (GRCm39) K493* probably null Het
Semp2l2a A G 8: 13,886,844 (GRCm39) S416P possibly damaging Het
Tmc2 A T 2: 130,076,738 (GRCm39) S355C probably damaging Het
Tonsl A G 15: 76,520,857 (GRCm39) S399P possibly damaging Het
Ttc14 T C 3: 33,863,050 (GRCm39) probably benign Het
Ttn A G 2: 76,568,409 (GRCm39) S19168P probably damaging Het
Usp17lb A T 7: 104,490,685 (GRCm39) S80T probably damaging Het
Vmn2r96 A G 17: 18,804,120 (GRCm39) I457V possibly damaging Het
Wdr64 G T 1: 175,553,979 (GRCm39) D170Y probably damaging Het
Zbtb42 T C 12: 112,645,948 (GRCm39) V41A probably damaging 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
R0925:Prmt8 UTSW 6 127,674,776 (GRCm39) missense probably benign 0.00
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
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'- AGTTGGCCATACCTGCTCTG -3'
(R):5'- TAGGCCACTGTCAGTCACATGG -3'

Sequencing Primer
(F):5'- TGCTCTGCCACCTCTACAAAC -3'
(R):5'- CCACTGTCAGTCACATGGTTGAAAAG -3'
Posted On 2016-06-21