Mutagenetix > Incidental Mutation

Incidental Mutation 'R7091:Prmt5'

568417

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

045185-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7091 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54744639-54754927 bp(-) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to G at 54748799 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
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

probably null
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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (56/57)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	A	C	3: 40,871,173 (GRCm39)	I111L	probably damaging	Het
Ank1	A	G	8: 23,548,679 (GRCm39)	D11G	probably benign	Het
Ank2	G	T	3: 126,817,000 (GRCm39)	Q472K	probably damaging	Het
Apbb2	A	T	5: 66,470,677 (GRCm39)	L520H	probably damaging	Het
Baat	T	C	4: 49,499,692 (GRCm39)	K205E	probably benign	Het
Brca1	T	A	11: 101,417,253 (GRCm39)	M294L	probably benign	Het
Capn1	A	G	19: 6,041,586 (GRCm39)	M641T	possibly damaging	Het
Cluap1	T	A	16: 3,758,670 (GRCm39)	D377E	probably benign	Het
Col6a2	C	T	10: 76,450,925 (GRCm39)	V39I	unknown	Het
Crybg3	T	A	16: 59,377,531 (GRCm39)	D1241V	possibly damaging	Het
Dnah10	A	G	5: 124,893,206 (GRCm39)	K3380R	probably benign	Het
Eml5	T	C	12: 98,768,733 (GRCm39)	I1400M	probably benign	Het
Fancd2	A	G	6: 113,522,062 (GRCm39)	D219G	probably damaging	Het
Fras1	A	G	5: 96,856,535 (GRCm39)	S1973G	probably benign	Het
Fsd1	G	A	17: 56,300,876 (GRCm39)	R245H	probably damaging	Het
G3bp1	T	A	11: 55,387,047 (GRCm39)	H271Q	possibly damaging	Het
Glce	A	G	9: 61,967,870 (GRCm39)	V427A	probably damaging	Het
Gm5141	T	C	13: 62,921,778 (GRCm39)	T464A	possibly damaging	Het
Gulp1	T	A	1: 44,805,294 (GRCm39)	F128I	probably damaging	Het
H2-T13	T	C	17: 36,394,833 (GRCm39)	E30G	possibly damaging	Het
Hcrtr1	A	C	4: 130,024,707 (GRCm39)	L393W	probably damaging	Het
Heg1	T	C	16: 33,547,090 (GRCm39)	S650P	probably benign	Het
Hspa4l	T	A	3: 40,736,024 (GRCm39)	N569K	probably benign	Het
Ifi206	A	G	1: 173,301,441 (GRCm39)	F746L	unknown	Het
Ivl	T	C	3: 92,479,549 (GRCm39)	D172G	possibly damaging	Het
Lrp5	A	T	19: 3,680,184 (GRCm39)	D433E	probably damaging	Het
Mgam	T	C	6: 40,745,210 (GRCm39)	S1826P	possibly damaging	Het
Ms4a18	A	T	19: 10,986,092 (GRCm39)	L206M	probably damaging	Het
Msln	A	T	17: 25,969,054 (GRCm39)	C444S	probably damaging	Het
Mta1	A	G	12: 113,100,022 (GRCm39)	D644G	probably damaging	Het
Muc5ac	G	C	7: 141,363,424 (GRCm39)		probably benign	Het
Naa15	T	C	3: 51,366,177 (GRCm39)		probably null	Het
Nadk	A	G	4: 155,672,215 (GRCm39)	H302R	probably benign	Het
Neb	T	A	2: 52,146,124 (GRCm39)	N15I		Het
Nup153	A	T	13: 46,837,404 (GRCm39)	S1273T	probably benign	Het
Ofcc1	A	G	13: 40,226,243 (GRCm39)	I763T	probably damaging	Het
Or4b13	T	C	2: 90,082,807 (GRCm39)	Y175C	probably damaging	Het
Oxsr1	T	C	9: 119,113,727 (GRCm39)	I107V	probably benign	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Ranbp6	A	G	19: 29,790,116 (GRCm39)	S79P	probably damaging	Het
Reln	T	C	5: 22,104,027 (GRCm39)	I3315V	probably null	Het
Rnf223	T	C	4: 156,217,156 (GRCm39)	V177A	probably benign	Het
Slc20a1	C	T	2: 129,050,192 (GRCm39)	T450M	possibly damaging	Het
Smg5	C	T	3: 88,258,654 (GRCm39)	P542S	probably benign	Het
Sorl1	T	A	9: 41,913,930 (GRCm39)	Q1333L	probably benign	Het
Spag5	T	A	11: 78,204,017 (GRCm39)		probably null	Het
Spopfm1	T	C	3: 94,173,945 (GRCm39)	F314L	probably damaging	Het
Tdp2	T	A	13: 25,022,207 (GRCm39)	F209I	probably damaging	Het
Tgm4	C	A	9: 122,869,525 (GRCm39)	L35M	probably damaging	Het
Tma7	A	G	9: 108,911,580 (GRCm39)		probably benign	Het
Tmprss4	A	T	9: 45,095,571 (GRCm39)	V91D	probably damaging	Het
Tnfsf4	T	A	1: 161,223,268 (GRCm39)	M39K	probably benign	Het
Ttn	T	A	2: 76,543,912 (GRCm39)	T33025S	probably benign	Het
Tut1	A	G	19: 8,943,175 (GRCm39)	H754R	probably benign	Het
Vmn2r27	T	G	6: 124,200,904 (GRCm39)	Q351P	possibly damaging	Het
Wee2	G	T	6: 40,438,936 (GRCm39)	G353V	probably benign	Het
Zfp747l1	C	A	7: 126,983,534 (GRCm39)	A523S	possibly damaging	Het
Zfp879	T	A	11: 50,724,222 (GRCm39)	H278L	probably damaging	Het

Other mutations in Prmt5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- ACAGCATTGGGGTTCTTCTCC -3'
(R):5'- ATGAAGTGTTTGAAAAGGACCC -3'

Sequencing Primer
(F):5'- GGGGTTCTTCTCCACAGCATACAG -3'
(R):5'- TGTTTGAAAAGGACCCCATCAAATAC -3'

Posted On

2019-07-17