Incidental Mutation 'R2159:Prmt5'
ID 235072
Institutional Source Beutler Lab
Gene Symbol Prmt5
Ensembl Gene ENSMUSG00000023110
Gene Name protein arginine N-methyltransferase 5
Synonyms Jbp1, Jak-binding protein 1, Skb1
MMRRC Submission 040162-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2159 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 54744639-54754927 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54752795 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 139 (T139A)
Ref Sequence ENSEMBL: ENSMUSP00000023873 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023873] [ENSMUST00000132227] [ENSMUST00000147214]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000023873
AA Change: T139A

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000023873
Gene: ENSMUSG00000023110
AA Change: T139A

DomainStartEndE-ValueType
low complexity region 1 18 N/A INTRINSIC
Pfam:PRMT5 181 619 4.5e-184 PFAM
Pfam:SAMBD 184 465 3e-119 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132227
SMART Domains Protein: ENSMUSP00000138549
Gene: ENSMUSG00000023110

DomainStartEndE-ValueType
low complexity region 1 18 N/A INTRINSIC
PDB:4GQB|A 19 40 5e-7 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132801
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133552
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138367
Predicted Effect probably benign
Transcript: ENSMUST00000139964
SMART Domains Protein: ENSMUSP00000121502
Gene: ENSMUSG00000023110

DomainStartEndE-ValueType
Pfam:PRMT5 1 62 1.3e-10 PFAM
Pfam:SAMBD 1 203 4.6e-68 PFAM
Pfam:PRMT5 52 203 1.2e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147214
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes an enzyme that belongs to the methyltransferase family. The encoded protein catalyzes the transfer of methyl groups to the amino acid arginine, in target proteins that include histones, transcriptional elongation factors and the tumor suppressor p53. This gene plays a role in several cellular processes, including transcriptional regulation and the assembly of small nuclear ribonucleoproteins. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a null allele display embryonic lethality before somite formation with failure of inner cell mass proliferation. [provided by MGI curators]
Allele List at MGI

All alleles(9) : Targeted, other(4) Gene trapped(5)
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam21 G A 12: 81,607,241 (GRCm39) P174S probably benign Het
Aida C T 1: 183,103,234 (GRCm39) P185S probably benign Het
Alg11 T G 8: 22,555,861 (GRCm39) I374R probably benign Het
Ano9 T C 7: 140,688,030 (GRCm39) I229V probably benign Het
Apob A T 12: 8,060,081 (GRCm39) L2821F probably benign Het
Atp10b C T 11: 43,042,680 (GRCm39) T80I possibly damaging Het
BC024139 T C 15: 76,005,688 (GRCm39) H478R probably damaging Het
Btbd1 A T 7: 81,450,804 (GRCm39) D325E possibly damaging Het
Camk2a G A 18: 61,090,257 (GRCm39) C199Y probably damaging Het
Casp3 A G 8: 47,087,323 (GRCm39) D90G probably damaging Het
Ccnt2 A G 1: 127,702,891 (GRCm39) H71R probably benign Het
Cdk2ap1 G A 5: 124,486,667 (GRCm39) R65* probably null Het
Cebpb G T 2: 167,531,173 (GRCm39) A78S probably benign Het
Col5a3 A G 9: 20,682,606 (GRCm39) F1613L unknown Het
Cpd T C 11: 76,688,467 (GRCm39) D935G probably damaging Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Cwc27 A G 13: 104,940,837 (GRCm39) I174T probably damaging Het
Cyp21a1 C A 17: 35,021,378 (GRCm39) R331L probably benign Het
Dnah5 A G 15: 28,252,691 (GRCm39) T795A probably benign Het
Eif2ak2 A G 17: 79,181,447 (GRCm39) V100A possibly damaging Het
Foxa3 A G 7: 18,748,109 (GRCm39) V339A probably benign Het
Gp2 T C 7: 119,051,507 (GRCm39) D236G probably benign Het
Gprc6a CAAA CA 10: 51,491,776 (GRCm39) probably null Het
Gzmd T A 14: 56,368,153 (GRCm39) H102L probably damaging Het
Klk1b1 A T 7: 43,619,857 (GRCm39) I139F probably damaging Het
Lcmt2 G A 2: 120,969,766 (GRCm39) P439L probably damaging Het
Loxl4 C T 19: 42,588,446 (GRCm39) A570T probably damaging Het
Mga T A 2: 119,750,124 (GRCm39) H674Q probably damaging Het
Mybpc3 A T 2: 90,955,715 (GRCm39) K583M probably damaging Het
Ncoa6 G T 2: 155,249,633 (GRCm39) P1224T probably damaging Het
Nostrin A G 2: 69,011,266 (GRCm39) probably null Het
Or13e8 T C 4: 43,697,110 (GRCm39) H21R probably benign Het
Or4c3 A T 2: 89,851,882 (GRCm39) V176E probably damaging Het
Oxsr1 A C 9: 119,133,880 (GRCm39) D58E possibly damaging Het
Parm1 A G 5: 91,760,923 (GRCm39) Y265C probably damaging Het
Phf10 C T 17: 15,172,926 (GRCm39) E304K probably damaging Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Ptp4a3 A G 15: 73,623,865 (GRCm39) T32A probably benign Het
Pwwp2b A T 7: 138,834,844 (GRCm39) D95V possibly damaging Het
Rad51ap2 T C 12: 11,507,752 (GRCm39) L558S possibly damaging Het
Rapgef4 A G 2: 72,005,225 (GRCm39) D80G probably damaging Het
Sec24a T G 11: 51,603,177 (GRCm39) H757P probably damaging Het
Sema4d T C 13: 51,874,571 (GRCm39) N129D probably damaging Het
Serpini1 A G 3: 75,531,251 (GRCm39) T323A probably benign Het
Setd1a G A 7: 127,384,661 (GRCm39) R504H possibly damaging Het
Sftpb T C 6: 72,286,770 (GRCm39) C226R probably damaging Het
Sp8 T C 12: 118,812,441 (GRCm39) S99P possibly damaging Het
Srgap3 A G 6: 112,748,339 (GRCm39) F438L probably damaging Het
Stim2 T C 5: 54,267,156 (GRCm39) Y365H probably damaging Het
Stk36 A G 1: 74,673,896 (GRCm39) Q1263R probably benign Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Troap G T 15: 98,975,467 (GRCm39) A184S probably damaging Het
Ttn G A 2: 76,729,671 (GRCm39) probably benign Het
Vmn2r108 C A 17: 20,689,363 (GRCm39) A531S probably benign Het
Vmn2r12 T A 5: 109,239,340 (GRCm39) I408F probably benign Het
Vmn2r8 T A 5: 108,950,169 (GRCm39) E226V probably benign Het
Vmo1 A G 11: 70,404,608 (GRCm39) F131S probably benign Het
Vwf T C 6: 125,603,304 (GRCm39) F885L probably damaging Het
Wdpcp A T 11: 21,807,476 (GRCm39) M618L probably benign Het
Wdr90 T C 17: 26,070,715 (GRCm39) E1072G probably benign Het
Other mutations in Prmt5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01309:Prmt5 APN 14 54,747,334 (GRCm39) missense probably damaging 1.00
IGL01586:Prmt5 APN 14 54,747,408 (GRCm39) unclassified probably benign
IGL02063:Prmt5 APN 14 54,748,477 (GRCm39) nonsense probably null
IGL02249:Prmt5 APN 14 54,747,322 (GRCm39) missense probably damaging 1.00
IGL03024:Prmt5 APN 14 54,754,055 (GRCm39) missense possibly damaging 0.93
skipper UTSW 14 54,747,368 (GRCm39) missense probably damaging 1.00
1mM(1):Prmt5 UTSW 14 54,748,957 (GRCm39) critical splice donor site probably null
R0485:Prmt5 UTSW 14 54,748,712 (GRCm39) missense probably damaging 1.00
R0664:Prmt5 UTSW 14 54,745,313 (GRCm39) missense probably damaging 0.99
R1473:Prmt5 UTSW 14 54,746,372 (GRCm39) missense probably damaging 1.00
R2106:Prmt5 UTSW 14 54,745,374 (GRCm39) missense probably benign 0.00
R4728:Prmt5 UTSW 14 54,745,364 (GRCm39) missense probably benign 0.00
R4843:Prmt5 UTSW 14 54,753,582 (GRCm39) missense probably benign 0.33
R5261:Prmt5 UTSW 14 54,745,373 (GRCm39) missense probably damaging 0.96
R5277:Prmt5 UTSW 14 54,747,399 (GRCm39) missense probably benign 0.02
R5736:Prmt5 UTSW 14 54,752,297 (GRCm39) missense probably null 0.84
R5892:Prmt5 UTSW 14 54,747,368 (GRCm39) missense probably damaging 1.00
R5945:Prmt5 UTSW 14 54,752,344 (GRCm39) missense possibly damaging 0.52
R7021:Prmt5 UTSW 14 54,752,845 (GRCm39) missense probably damaging 1.00
R7091:Prmt5 UTSW 14 54,748,799 (GRCm39) splice site probably null
R7172:Prmt5 UTSW 14 54,752,343 (GRCm39) missense possibly damaging 0.92
R7574:Prmt5 UTSW 14 54,745,347 (GRCm39) missense possibly damaging 0.48
R9019:Prmt5 UTSW 14 54,753,564 (GRCm39) missense probably benign 0.01
R9234:Prmt5 UTSW 14 54,748,674 (GRCm39) missense possibly damaging 0.72
R9302:Prmt5 UTSW 14 54,749,583 (GRCm39) missense probably benign 0.22
Predicted Primers PCR Primer
(F):5'- TCTGCACACCACACTTAGGC -3'
(R):5'- TAGCTCAGTATGGCAGCTTATAG -3'

Sequencing Primer
(F):5'- ACCACACTTAGGCGGAGTCAG -3'
(R):5'- GCTACAGTGTCAGAGCCAGTTTC -3'
Posted On 2014-10-01