Incidental Mutation 'IGL03024:Prmt5'
ID408096
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prmt5
Ensembl Gene ENSMUSG00000023110
Gene Nameprotein arginine N-methyltransferase 5
SynonymsJak-binding protein 1, Jbp1, Skb1
Accession Numbers

Genbank: NM_013768.3; Ensembl: ENSMUST00000023873

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03024
Quality Score
Status
Chromosome14
Chromosomal Location54507187-54517525 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 54516598 bp
ZygosityHeterozygous
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]
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: 8,993,632 F257L probably benign Het
Aaas A G 15: 102,350,491 probably benign Het
AI661453 C T 17: 47,446,588 R57W probably damaging Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Bahd1 T C 2: 118,916,116 V72A probably damaging Het
Bcl3 A G 7: 19,809,134 probably benign Het
Blnk A T 19: 40,994,002 probably benign Het
Cd81 T C 7: 143,067,352 I230T probably benign Het
Cdc20b A T 13: 113,091,042 R485S possibly damaging Het
Cenpp C A 13: 49,464,254 A273S probably benign Het
Cep295 A G 9: 15,325,572 V2022A probably benign Het
Ces1d C A 8: 93,169,718 probably null Het
Cfap61 C A 2: 145,939,999 probably benign Het
Col8a1 T A 16: 57,628,364 H261L unknown Het
Cyp2j5 A T 4: 96,629,523 M484K probably benign Het
D930020B18Rik T C 10: 121,685,622 probably benign Het
Dhdds A T 4: 133,982,849 L203Q probably damaging Het
Dusp6 A G 10: 99,266,294 T381A probably damaging Het
Fnbp4 A G 2: 90,751,179 D192G probably benign Het
Gbp2 G T 3: 142,632,019 V299F probably damaging Het
Gfpt1 G T 6: 87,053,831 V66F probably damaging Het
Heatr1 T C 13: 12,407,509 probably benign Het
Ikbkap A G 4: 56,774,686 probably null Het
Irf8 T A 8: 120,753,358 S112T probably damaging Het
Jmy G T 13: 93,499,199 N36K probably damaging Het
Kcnt2 T C 1: 140,570,455 I866T probably benign Het
Kif1c A T 11: 70,705,189 M210L probably damaging Het
Kng1 G A 16: 23,074,692 V272I possibly damaging Het
Lrig2 A C 3: 104,494,073 M166R probably damaging Het
Mastl A G 2: 23,139,919 L265P probably damaging Het
Mmp27 A G 9: 7,581,376 T547A probably benign Het
Myh4 T C 11: 67,248,479 C541R probably damaging Het
Naip2 A T 13: 100,189,354 F15L possibly damaging Het
Nipal1 G T 5: 72,663,625 probably null Het
Nrp2 A T 1: 62,771,734 N645Y probably damaging Het
Olfr1284 T A 2: 111,379,590 F197I possibly damaging Het
Olfr348 T A 2: 36,786,846 F107Y possibly damaging Het
Olfr39 T A 9: 20,285,984 M103K probably benign Het
Plcl1 T A 1: 55,695,787 S96T probably damaging Het
Prl2c1 A C 13: 27,856,541 D139A probably benign Het
Ptpn21 T A 12: 98,680,056 M1048L probably benign Het
Ptprq T C 10: 107,685,566 E653G possibly damaging Het
Rbm6 A G 9: 107,787,368 S689P probably damaging Het
Rtn3 A G 19: 7,483,090 probably benign Het
Shoc2 T C 19: 54,003,027 I241T probably benign Het
Sipa1 A T 19: 5,656,161 D380E probably damaging Het
Slc1a6 T C 10: 78,814,608 V560A probably benign Het
Speer2 T C 16: 69,858,115 H154R possibly damaging Het
Tlk1 A T 2: 70,746,036 C247* probably null Het
Trim15 A G 17: 36,866,893 L70P probably damaging Het
Ttc9b T C 7: 27,654,933 L148P probably damaging Het
Vwa8 C T 14: 78,995,098 P627S probably benign Het
Other mutations in Prmt5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01309:Prmt5 APN 14 54509877 missense probably damaging 1.00
IGL01586:Prmt5 APN 14 54509951 unclassified probably benign
IGL02063:Prmt5 APN 14 54511020 nonsense probably null
IGL02249:Prmt5 APN 14 54509865 missense probably damaging 1.00
skipper UTSW 14 54509911 missense probably damaging 1.00
1mM(1):Prmt5 UTSW 14 54511500 critical splice donor site probably null
R0485:Prmt5 UTSW 14 54511255 missense probably damaging 1.00
R0664:Prmt5 UTSW 14 54507856 missense probably damaging 0.99
R1473:Prmt5 UTSW 14 54508915 missense probably damaging 1.00
R2106:Prmt5 UTSW 14 54507917 missense probably benign 0.00
R2159:Prmt5 UTSW 14 54515338 missense probably benign 0.03
R4728:Prmt5 UTSW 14 54507907 missense probably benign 0.00
R4843:Prmt5 UTSW 14 54516125 missense probably benign 0.33
R5261:Prmt5 UTSW 14 54507916 missense probably damaging 0.96
R5277:Prmt5 UTSW 14 54509942 missense probably benign 0.02
R5736:Prmt5 UTSW 14 54514840 missense probably null 0.84
R5892:Prmt5 UTSW 14 54509911 missense probably damaging 1.00
R5945:Prmt5 UTSW 14 54514887 missense possibly damaging 0.52
R7021:Prmt5 UTSW 14 54515388 missense probably damaging 1.00
R7091:Prmt5 UTSW 14 54511342 splice site probably null
R7172:Prmt5 UTSW 14 54514886 missense possibly damaging 0.92
Posted On2016-08-02