Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01586:Prmt5'

91825

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prmt5

Ensembl Gene

ENSMUSG00000023110

Gene Name

protein arginine N-methyltransferase 5

Synonyms

Jak-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 #

IGL01586

Quality Score

Status

Chromosome

Chromosomal Location

54507187-54517525 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 54509951 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154584 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023873] [ENSMUST00000132227] [ENSMUST00000147214]

Predicted Effect

probably benign
Transcript: ENSMUST00000023873

SMART Domains

Protein: ENSMUSP00000023873
Gene: ENSMUSG00000023110

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
low complexity region	1	18	N/A	INTRINSIC
PDB:4GQB\|A	19	40	5e-7	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133552

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138367

Predicted Effect

probably benign
Transcript: ENSMUST00000139964

SMART Domains

Protein: ENSMUSP00000121502
Gene: ENSMUSG00000023110

Domain	Start	End	E-Value	Type
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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	A	T	17: 48,128,515	Y144N	unknown	Het
Abca9	A	C	11: 110,154,417	C363W	probably damaging	Het
Acmsd	G	A	1: 127,759,710	R243H	probably damaging	Het
Adam33	T	C	2: 131,054,050	T490A	probably damaging	Het
Ank1	A	G	8: 23,120,912	D1411G	probably benign	Het
Arhgap39	T	C	15: 76,730,438	E842G	probably benign	Het
Asgr2	T	C	11: 70,105,367		probably benign	Het
Bbs9	T	C	9: 22,645,997	V14A	possibly damaging	Het
Cer1	A	G	4: 82,884,843	S81P	probably damaging	Het
Cln6	T	A	9: 62,844,618	H41Q	probably damaging	Het
Dock1	A	G	7: 134,753,377	D334G	probably damaging	Het
Dpy19l2	A	G	9: 24,666,975	I261T	probably benign	Het
Fhod3	T	G	18: 25,090,747	I1050S	probably damaging	Het
Gbgt1	T	C	2: 28,497,830	V22A	probably benign	Het
Izumo3	A	G	4: 92,146,295		probably null	Het
Kif11	T	C	19: 37,384,233		probably benign	Het
Krt2	C	A	15: 101,811,390	G615V	unknown	Het
Midn	A	G	10: 80,156,643		probably benign	Het
Mier1	C	T	4: 103,155,572	T342I	probably damaging	Het
Mycbp2	A	T	14: 103,140,869		probably null	Het
Nrp1	A	T	8: 128,432,032	S267C	possibly damaging	Het
Olfr145	A	G	9: 37,897,976	T191A	possibly damaging	Het
Pcdh20	A	T	14: 88,470,908	M28K	probably benign	Het
Psmg2	G	A	18: 67,653,223	V218I	probably benign	Het
Rps6ka5	T	C	12: 100,570,914	E519G	probably damaging	Het
Samm50	T	A	15: 84,195,838	I39N	probably benign	Het
Shc2	A	T	10: 79,622,304	M515K	probably damaging	Het
Sorbs2	T	A	8: 45,795,594	F608L	probably damaging	Het
Sos2	T	C	12: 69,607,398	K727E	probably damaging	Het
Sox13	A	T	1: 133,389,444	H150Q	possibly damaging	Het
Tmem132e	T	C	11: 82,434,669	V165A	probably damaging	Het
Trmt11	T	C	10: 30,597,751	T43A	probably benign	Het
Tyrp1	G	T	4: 80,844,898	V341L	probably benign	Het
Ugt2b35	C	A	5: 87,011,391	H481Q	probably benign	Het
Zzz3	T	A	3: 152,455,839	I290N	possibly damaging	Het

Other mutations in Prmt5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01309:Prmt5	APN	14	54509877	missense	probably damaging	1.00
IGL02063:Prmt5	APN	14	54511020	nonsense	probably null
IGL02249:Prmt5	APN	14	54509865	missense	probably damaging	1.00
IGL03024:Prmt5	APN	14	54516598	missense	possibly damaging	0.93
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
R7574:Prmt5	UTSW	14	54507890	missense	possibly damaging	0.48

Posted On

2013-12-09