Incidental Mutation 'R0313:Prmt1'
ID 25335
Institutional Source Beutler Lab
Gene Symbol Prmt1
Ensembl Gene ENSMUSG00000109324
Gene Name protein arginine N-methyltransferase 1
Synonyms 6720434D09Rik, Hrmt1l2
MMRRC Submission 038523-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0313 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 44626179-44635844 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44628172 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 176 (D176G)
Ref Sequence ENSEMBL: ENSMUSP00000045365 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045325] [ENSMUST00000063761] [ENSMUST00000107843] [ENSMUST00000207370] [ENSMUST00000207522] [ENSMUST00000207659] [ENSMUST00000209124] [ENSMUST00000208312] [ENSMUST00000208829] [ENSMUST00000212836] [ENSMUST00000212255] [ENSMUST00000208938]
AlphaFold Q9JIF0
Predicted Effect probably benign
Transcript: ENSMUST00000045325
AA Change: D176G

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000045365
Gene: ENSMUSG00000109324
AA Change: D176G

DomainStartEndE-ValueType
Pfam:PRMT5 41 343 3.9e-11 PFAM
Pfam:Met_10 72 184 5.4e-7 PFAM
Pfam:MTS 78 162 7e-7 PFAM
Pfam:PrmA 79 182 8.1e-10 PFAM
Pfam:Methyltransf_31 86 226 4.1e-10 PFAM
Pfam:Methyltransf_18 88 195 3.5e-9 PFAM
Pfam:Methyltransf_26 89 189 1.4e-8 PFAM
Pfam:Methyltransf_11 93 192 3.8e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000063761
SMART Domains Protein: ENSMUSP00000069539
Gene: ENSMUSG00000007783

DomainStartEndE-ValueType
Pfam:CPT_N 1 47 2.3e-21 PFAM
transmembrane domain 104 126 N/A INTRINSIC
Pfam:Carn_acyltransf 171 757 7.7e-167 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107843
AA Change: D229G

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000103474
Gene: ENSMUSG00000109324
AA Change: D229G

DomainStartEndE-ValueType
Pfam:PRMT5 41 343 1.9e-8 PFAM
Pfam:MTS 78 162 1.1e-6 PFAM
Pfam:PrmA 79 181 1.3e-9 PFAM
Pfam:Methyltransf_31 86 226 4e-10 PFAM
Pfam:Methyltransf_18 88 192 6.2e-9 PFAM
Pfam:Methyltransf_11 93 192 1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207370
AA Change: D211G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207515
Predicted Effect probably benign
Transcript: ENSMUST00000207522
Predicted Effect probably benign
Transcript: ENSMUST00000207659
Predicted Effect probably benign
Transcript: ENSMUST00000209124
AA Change: D66G

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect unknown
Transcript: ENSMUST00000208778
AA Change: Y77C
Predicted Effect probably benign
Transcript: ENSMUST00000209056
Predicted Effect probably benign
Transcript: ENSMUST00000208312
Predicted Effect probably benign
Transcript: ENSMUST00000208829
Predicted Effect probably benign
Transcript: ENSMUST00000212836
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209089
Predicted Effect probably benign
Transcript: ENSMUST00000212255
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207735
Predicted Effect probably benign
Transcript: ENSMUST00000208938
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207702
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208897
Meta Mutation Damage Score 0.1044 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.9%
  • 20x: 88.5%
Validation Efficiency 98% (40/41)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the protein arginine N-methyltransferase (PRMT) family. Post-translational modification of target proteins by PRMTs plays an important regulatory role in many biological processes, whereby PRMTs methylate arginine residues by transferring methyl groups from S-adenosyl-L-methionine to terminal guanidino nitrogen atoms. The encoded protein is a type I PRMT and is responsible for the majority of cellular arginine methylation activity. Increased expression of this gene may play a role in many types of cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Dec 2011]
PHENOTYPE: Embryos homozygous for a null mutation die before E6.5 and exhibit abnormal embryonic tissue morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg2 A G 6: 58,649,082 (GRCm39) E309G probably benign Het
Ankmy1 C T 1: 92,813,943 (GRCm39) G412D probably damaging Het
Cc2d1a G A 8: 84,863,598 (GRCm39) T542I probably benign Het
Cldn18 T C 9: 99,580,967 (GRCm39) I94V probably benign Het
Cobll1 G A 2: 64,926,088 (GRCm39) R1195* probably null Het
Dnah7b A G 1: 46,246,803 (GRCm39) T1660A probably damaging Het
Dzip3 G T 16: 48,757,424 (GRCm39) Q870K probably damaging Het
Ebf4 T C 2: 130,148,707 (GRCm39) probably benign Het
Ecpas A G 4: 58,811,892 (GRCm39) I1411T probably benign Het
Esyt2 T C 12: 116,311,428 (GRCm39) L439P probably damaging Het
Fbxl17 G A 17: 63,663,846 (GRCm39) R67C probably damaging Het
Haspin A G 11: 73,027,124 (GRCm39) V655A probably damaging Het
Kmt2c T C 5: 25,549,928 (GRCm39) E1351G probably damaging Het
Lama2 C A 10: 26,869,394 (GRCm39) probably null Het
Lcp1 A G 14: 75,436,873 (GRCm39) E73G probably damaging Het
Ltv1 C T 10: 13,058,604 (GRCm39) probably null Het
Mcmdc2 A G 1: 10,002,366 (GRCm39) Y529C probably damaging Het
Myo3b T A 2: 70,179,303 (GRCm39) Y1172* probably null Het
Ncf1 T C 5: 134,258,421 (GRCm39) M1V probably null Het
Or4k47 C T 2: 111,451,945 (GRCm39) S158N possibly damaging Het
Or6c8b A G 10: 128,882,695 (GRCm39) V79A possibly damaging Het
Or8c10 T C 9: 38,279,600 (GRCm39) S243P probably damaging Het
Pcif1 A T 2: 164,726,339 (GRCm39) H80L probably damaging Het
Pclo T C 5: 14,728,887 (GRCm39) probably benign Het
Polr2a T C 11: 69,625,906 (GRCm39) Y1710C unknown Het
Ppp1r37 G A 7: 19,267,923 (GRCm39) T324I probably damaging Het
Scn5a T C 9: 119,363,637 (GRCm39) D501G probably damaging Het
Ska2 A G 11: 87,008,640 (GRCm39) I89M possibly damaging Het
Slc39a7 G A 17: 34,248,518 (GRCm39) A375V probably damaging Het
Ssrp1 T A 2: 84,871,898 (GRCm39) I374N probably damaging Het
Stox2 C T 8: 47,645,169 (GRCm39) G828R probably damaging Het
Tcam1 G A 11: 106,174,904 (GRCm39) E120K probably benign Het
Uqcrc1 C A 9: 108,777,642 (GRCm39) R114S possibly damaging Het
Usp38 A T 8: 81,711,071 (GRCm39) L988* probably null Het
Vmn2r5 T A 3: 64,411,248 (GRCm39) H440L probably benign Het
Wdr12 A T 1: 60,121,738 (GRCm39) I271N possibly damaging Het
Xylt2 C T 11: 94,560,720 (GRCm39) probably benign Het
Other mutations in Prmt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01344:Prmt1 APN 7 44,627,059 (GRCm39) unclassified probably benign
IGL03195:Prmt1 APN 7 44,626,995 (GRCm39) missense probably damaging 0.98
R0110:Prmt1 UTSW 7 44,628,225 (GRCm39) unclassified probably benign
R0326:Prmt1 UTSW 7 44,628,878 (GRCm39) missense probably damaging 1.00
R0522:Prmt1 UTSW 7 44,631,203 (GRCm39) missense probably benign 0.08
R0531:Prmt1 UTSW 7 44,627,048 (GRCm39) missense probably damaging 1.00
R0611:Prmt1 UTSW 7 44,628,225 (GRCm39) splice site probably null
R2002:Prmt1 UTSW 7 44,628,148 (GRCm39) missense probably damaging 1.00
R4712:Prmt1 UTSW 7 44,631,060 (GRCm39) missense probably damaging 1.00
R6032:Prmt1 UTSW 7 44,626,526 (GRCm39) splice site probably null
R6153:Prmt1 UTSW 7 44,631,251 (GRCm39) missense probably damaging 1.00
R7087:Prmt1 UTSW 7 44,631,007 (GRCm39) splice site probably null
R7216:Prmt1 UTSW 7 44,632,997 (GRCm39) missense probably benign
R7655:Prmt1 UTSW 7 44,633,552 (GRCm39) missense probably benign 0.05
R7656:Prmt1 UTSW 7 44,633,552 (GRCm39) missense probably benign 0.05
R7747:Prmt1 UTSW 7 44,633,560 (GRCm39) splice site probably null
R9111:Prmt1 UTSW 7 44,631,169 (GRCm39) missense probably damaging 1.00
Z1177:Prmt1 UTSW 7 44,628,933 (GRCm39) missense possibly damaging 0.83
Predicted Primers PCR Primer
(F):5'- TGCACGAGAACTGCTGCCTGTTAG -3'
(R):5'- ATGTGACAGCCATTGAGGACCGAC -3'

Sequencing Primer
(F):5'- cacaccagaagagggcac -3'
(R):5'- TTGAGGACCGACAATATAAAGACTAC -3'
Posted On 2013-04-16