Incidental Mutation 'R8404:Prmt8'
ID 652312
Institutional Source Beutler Lab
Gene Symbol Prmt8
Ensembl Gene ENSMUSG00000030350
Gene Name protein arginine N-methyltransferase 8
Synonyms Hrmt1l3, Hrmt1l4
MMRRC Submission 067764-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8404 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 127665972-127746430 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 127666825 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 383 (C383Y)
Ref Sequence ENSEMBL: ENSMUSP00000032500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032500]
AlphaFold Q6PAK3
Predicted Effect possibly damaging
Transcript: ENSMUST00000032500
AA Change: C383Y

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000032500
Gene: ENSMUSG00000030350
AA Change: C383Y

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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
Abca6 T A 11: 110,110,145 (GRCm39) L599F probably damaging Het
Accs T C 2: 93,668,460 (GRCm39) Y337C probably damaging Het
Alkal2 G T 12: 30,934,850 (GRCm39) G23V probably damaging Het
Apcdd1 A T 18: 63,066,986 (GRCm39) R33S possibly damaging Het
Brsk1 T C 7: 4,709,695 (GRCm39) S441P probably damaging Het
Crlf2 T C 5: 109,704,917 (GRCm39) D98G probably benign Het
Dnah10 A G 5: 124,850,606 (GRCm39) D1693G probably damaging Het
Gfm2 T C 13: 97,299,485 (GRCm39) I402T probably benign Het
Gm6899 C G 11: 26,543,630 (GRCm39) R66G unknown Het
Hira T G 16: 18,770,912 (GRCm39) S850A possibly damaging Het
Krt10 C T 11: 99,278,359 (GRCm39) E267K probably damaging Het
Lama5 T C 2: 179,837,015 (GRCm39) N1074S probably damaging Het
Lrp2 C T 2: 69,344,585 (GRCm39) W844* probably null Het
Maml3 T C 3: 51,598,077 (GRCm39) Y869C probably damaging Het
Nap1l1 T A 10: 111,317,162 (GRCm39) M1K probably null Het
Nbeal2 C T 9: 110,463,457 (GRCm39) S1258N possibly damaging Het
Or51f5 T A 7: 102,424,134 (GRCm39) Y134* probably null Het
Pam T C 1: 97,823,358 (GRCm39) Q271R probably damaging Het
Pced1a T C 2: 130,265,577 (GRCm39) probably benign Het
Pdcd11 T C 19: 47,093,231 (GRCm39) V503A probably damaging Het
Phf8-ps C A 17: 33,286,038 (GRCm39) A255S probably benign Het
Pinx1 T A 14: 64,157,063 (GRCm39) V330D unknown Het
Prdm2 T C 4: 142,861,584 (GRCm39) I569V probably damaging Het
Prickle2 T C 6: 92,397,302 (GRCm39) D197G probably damaging Het
Prss42 T C 9: 110,629,984 (GRCm39) L246P probably damaging Het
Ptpra C A 2: 130,391,679 (GRCm39) D732E probably damaging Het
Rpp30 T C 19: 36,066,603 (GRCm39) L112P probably damaging Het
Saraf C T 8: 34,632,602 (GRCm39) P227L probably benign Het
Slc22a28 A T 19: 8,108,793 (GRCm39) C116* probably null Het
Slc45a2 T C 15: 11,027,958 (GRCm39) I509T possibly damaging Het
Spag7 T C 11: 70,560,059 (GRCm39) S17G probably benign Het
Trim62 A G 4: 128,803,233 (GRCm39) I428V probably benign Het
Urb2 A G 8: 124,751,942 (GRCm39) T92A probably damaging Het
Zan A T 5: 137,396,594 (GRCm39) C4321S unknown Het
Zbtb32 G A 7: 30,291,035 (GRCm39) P87S possibly damaging Het
Zer1 C T 2: 29,995,035 (GRCm39) probably null Het
Zfat T C 15: 67,976,916 (GRCm39) T1078A probably benign 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
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
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'- AAGTTCGCCAATCTTCAAGGC -3'
(R):5'- ATCAGAGCCCTTTCTGTGAGG -3'

Sequencing Primer
(F):5'- CGCCAATCTTCAAGGCAGAGTG -3'
(R):5'- CCAGAATGGTTTCCTGAGGAC -3'
Posted On 2020-10-20