Incidental Mutation 'IGL03024:Prmt5'
ID 408096
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prmt5
Ensembl Gene ENSMUSG00000023110
Gene Name protein arginine N-methyltransferase 5
Synonyms Jbp1, Jak-binding protein 1, Skb1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03024
Quality Score
Status
Chromosome 14
Chromosomal Location 54744639-54754927 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 54754055 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 43 (M43K)
Ref Sequence ENSEMBL: ENSMUSP00000023873 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023873] [ENSMUST00000132227] [ENSMUST00000147214]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000023873
AA Change: M43K

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000023873
Gene: ENSMUSG00000023110
AA Change: M43K

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
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T C 17: 9,212,464 (GRCm39) F257L probably benign Het
Aaas A G 15: 102,258,926 (GRCm39) probably benign Het
AI661453 C T 17: 47,757,513 (GRCm39) R57W probably damaging Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Bahd1 T C 2: 118,746,597 (GRCm39) V72A probably damaging Het
Bcl3 A G 7: 19,543,059 (GRCm39) probably benign Het
Blnk A T 19: 40,982,445 (GRCm39) probably benign Het
Cd81 T C 7: 142,621,089 (GRCm39) I230T probably benign Het
Cdc20b A T 13: 113,227,576 (GRCm39) R485S possibly damaging Het
Cenpp C A 13: 49,617,730 (GRCm39) A273S probably benign Het
Cep295 A G 9: 15,236,868 (GRCm39) V2022A probably benign Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Cfap61 C A 2: 145,781,919 (GRCm39) probably benign Het
Col8a1 T A 16: 57,448,727 (GRCm39) H261L unknown Het
Cyp2j5 A T 4: 96,517,760 (GRCm39) M484K probably benign Het
D930020B18Rik T C 10: 121,521,527 (GRCm39) probably benign Het
Dhdds A T 4: 133,710,160 (GRCm39) L203Q probably damaging Het
Dusp6 A G 10: 99,102,156 (GRCm39) T381A probably damaging Het
Elp1 A G 4: 56,774,686 (GRCm39) probably null Het
Fnbp4 A G 2: 90,581,523 (GRCm39) D192G probably benign Het
Gbp2 G T 3: 142,337,780 (GRCm39) V299F probably damaging Het
Gfpt1 G T 6: 87,030,813 (GRCm39) V66F probably damaging Het
Heatr1 T C 13: 12,422,390 (GRCm39) probably benign Het
Irf8 T A 8: 121,480,097 (GRCm39) S112T probably damaging Het
Jmy G T 13: 93,635,707 (GRCm39) N36K probably damaging Het
Kcnt2 T C 1: 140,498,193 (GRCm39) I866T probably benign Het
Kif1c A T 11: 70,596,015 (GRCm39) M210L probably damaging Het
Kng1 G A 16: 22,893,442 (GRCm39) V272I possibly damaging Het
Lrig2 A C 3: 104,401,389 (GRCm39) M166R probably damaging Het
Mastl A G 2: 23,029,931 (GRCm39) L265P probably damaging Het
Mmp27 A G 9: 7,581,377 (GRCm39) T547A probably benign Het
Myh4 T C 11: 67,139,305 (GRCm39) C541R probably damaging Het
Naip2 A T 13: 100,325,862 (GRCm39) F15L possibly damaging Het
Nipal1 G T 5: 72,820,968 (GRCm39) probably null Het
Nrp2 A T 1: 62,810,893 (GRCm39) N645Y probably damaging Het
Or1j19 T A 2: 36,676,858 (GRCm39) F107Y possibly damaging Het
Or4g17 T A 2: 111,209,935 (GRCm39) F197I possibly damaging Het
Or7d9 T A 9: 20,197,280 (GRCm39) M103K probably benign Het
Plcl1 T A 1: 55,734,946 (GRCm39) S96T probably damaging Het
Prl2c1 A C 13: 28,040,524 (GRCm39) D139A probably benign Het
Ptpn21 T A 12: 98,646,315 (GRCm39) M1048L probably benign Het
Ptprq T C 10: 107,521,427 (GRCm39) E653G possibly damaging Het
Rbm6 A G 9: 107,664,567 (GRCm39) S689P probably damaging Het
Rtn3 A G 19: 7,460,455 (GRCm39) probably benign Het
Shoc2 T C 19: 53,991,458 (GRCm39) I241T probably benign Het
Sipa1 A T 19: 5,706,189 (GRCm39) D380E probably damaging Het
Slc1a6 T C 10: 78,650,442 (GRCm39) V560A probably benign Het
Speer2 T C 16: 69,655,003 (GRCm39) H154R possibly damaging Het
Tlk1 A T 2: 70,576,380 (GRCm39) C247* probably null Het
Trim15 A G 17: 37,177,785 (GRCm39) L70P probably damaging Het
Ttc9b T C 7: 27,354,358 (GRCm39) L148P probably damaging Het
Vwa8 C T 14: 79,232,538 (GRCm39) P627S 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
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
R2159:Prmt5 UTSW 14 54,752,795 (GRCm39) missense probably benign 0.03
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
Posted On 2016-08-02