Mutagenetix > Incidental Mutation

Incidental Mutation 'R5820:Prmt3'

449857

Institutional Source

Beutler Lab

Gene Symbol

Prmt3

Ensembl Gene

ENSMUSG00000030505

Gene Name

protein arginine N-methyltransferase 3

Synonyms

2410018A17Rik, 2010005E20Rik, Hrmt1l3

MMRRC Submission

043400-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.428) question?

Stock #

R5820 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

49428094-49508013 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 49498554 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 487 (P487S)

Ref Sequence

ENSEMBL: ENSMUSP00000032715 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032715]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000032715
AA Change: P487S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032715
Gene: ENSMUSG00000030505
AA Change: P487S

Domain	Start	End	E-Value	Type
low complexity region	22	36	N/A	INTRINSIC
ZnF_C2H2	46	69	2.41e1	SMART
coiled coil region	156	191	N/A	INTRINSIC
Pfam:PRMT5	212	508	5.7e-8	PFAM
Pfam:Methyltransf_9	220	392	9.3e-9	PFAM
Pfam:MTS	242	326	5.4e-7	PFAM
Pfam:PrmA	245	343	4.3e-13	PFAM
Pfam:Methyltransf_31	250	407	8.8e-11	PFAM
Pfam:Methyltransf_18	252	360	2.5e-11	PFAM
Pfam:Methyltransf_11	257	356	1.1e-8	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the protein arginine methyltransferase (PRMT) family. The encoded enzyme catalyzes the methylation of guanidino nitrogens of arginyl residues of proteins. The enzyme acts on 40S ribosomal protein S2 (rpS2), which is its major in-vivo substrate, and is involved in the proper maturation of the 80S ribosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for a hypomorphic gene trap allele exhibit a reduced embryonic size but survive birth and attain a normal size in adulthood. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	G	14: 118,841,607 (GRCm39)	Y596H	probably benign	Het
Adgrg3	A	T	8: 95,766,221 (GRCm39)	M351L	possibly damaging	Het
Aqp7	G	A	4: 41,035,510 (GRCm39)	T115I	probably benign	Het
Arhgef38	A	T	3: 132,866,560 (GRCm39)	D192E	probably benign	Het
Arhgef40	T	C	14: 52,224,953 (GRCm39)	F33L	possibly damaging	Het
Arid1b	A	G	17: 5,046,529 (GRCm39)	Y439C	possibly damaging	Het
Bltp1	T	C	3: 37,093,675 (GRCm39)	V875A	probably benign	Het
Bop1	G	A	15: 76,339,041 (GRCm39)	P386S	probably damaging	Het
Cacna1s	A	G	1: 136,007,342 (GRCm39)	H453R	probably damaging	Het
Canx	A	G	11: 50,199,210 (GRCm39)	V153A	probably damaging	Het
Chfr	T	A	5: 110,310,605 (GRCm39)	D475E	possibly damaging	Het
Clcn7	A	C	17: 25,368,026 (GRCm39)	K208T	probably damaging	Het
Cmya5	G	T	13: 93,229,288 (GRCm39)	N1933K	probably benign	Het
CN725425	A	G	15: 91,144,900 (GRCm39)	T588A	possibly damaging	Het
Cwh43	G	A	5: 73,585,975 (GRCm39)	W358*	probably null	Het
Cyfip2	A	T	11: 46,091,531 (GRCm39)	W1130R	probably damaging	Het
Ddx60	A	T	8: 62,409,155 (GRCm39)	D397V	possibly damaging	Het
Disp1	T	C	1: 182,917,151 (GRCm39)	S92G	probably benign	Het
Dusp6	A	G	10: 99,099,864 (GRCm39)	D104G	possibly damaging	Het
Dzank1	C	T	2: 144,355,408 (GRCm39)	V96M	probably damaging	Het
Ecscr	C	A	18: 35,850,320 (GRCm39)	V52F	possibly damaging	Het
Epha7	A	T	4: 28,949,365 (GRCm39)	N712I	probably damaging	Het
Eva1a	C	T	6: 82,048,154 (GRCm39)	P11S	probably benign	Het
Fam187b	T	C	7: 30,676,577 (GRCm39)	C29R	probably damaging	Het
Fau	T	C	19: 6,109,452 (GRCm39)	V117A	probably benign	Het
Fbxw11	A	G	11: 32,685,374 (GRCm39)	D369G	probably damaging	Het
Fkbp15	A	G	4: 62,263,783 (GRCm39)	F95L	probably benign	Het
Fkbp6	A	T	5: 135,368,774 (GRCm39)		probably null	Het
Fmo9	T	C	1: 166,492,170 (GRCm39)	K367E	possibly damaging	Het
Gad2	T	C	2: 22,580,261 (GRCm39)	V554A	probably benign	Het
Gm18025	T	C	12: 34,340,631 (GRCm39)	D154G	probably benign	Het
Gm4353	A	G	7: 115,683,693 (GRCm39)	F34S	possibly damaging	Het
Gucy2e	A	G	11: 69,123,522 (GRCm39)	I459T	probably benign	Het
Hpx	A	G	7: 105,240,995 (GRCm39)	I426T	possibly damaging	Het
Hspa9	T	C	18: 35,076,227 (GRCm39)	T362A	possibly damaging	Het
Insr	G	A	8: 3,205,976 (GRCm39)	P1271L	probably damaging	Het
Jarid2	G	A	13: 45,055,777 (GRCm39)	V328I	possibly damaging	Het
Kat8	G	A	7: 127,523,988 (GRCm39)	E343K	probably damaging	Het
Kif18b	A	G	11: 102,803,874 (GRCm39)	S429P	probably benign	Het
Lats1	A	T	10: 7,581,672 (GRCm39)	H819L	probably damaging	Het
Lmnb1	T	A	18: 56,873,858 (GRCm39)	D421E	possibly damaging	Het
Lrp4	T	C	2: 91,322,960 (GRCm39)	I1148T	probably damaging	Het
Map1b	T	A	13: 99,569,332 (GRCm39)	M1130L	unknown	Het
Mlip	G	A	9: 77,137,764 (GRCm39)	S381L	probably damaging	Het
Myh6	T	C	14: 55,196,137 (GRCm39)	Y554C	probably damaging	Het
Myl4	T	C	11: 104,474,806 (GRCm39)	F52L	probably damaging	Het
Nol12	C	T	15: 78,824,680 (GRCm39)	T169I	probably benign	Het
Nrde2	C	T	12: 100,098,546 (GRCm39)	R707H	probably benign	Het
Oasl1	G	A	5: 115,075,037 (GRCm39)	V366M	possibly damaging	Het
Or8b47	T	C	9: 38,435,895 (GRCm39)	I289T	possibly damaging	Het
Otogl	G	A	10: 107,612,978 (GRCm39)		silent	Het
Polrmt	C	T	10: 79,574,157 (GRCm39)		probably null	Het
Ppil4	A	G	10: 7,686,174 (GRCm39)	D344G	probably null	Het
Ppp2r3d	C	T	9: 124,422,765 (GRCm38)	A69T	possibly damaging	Het
Ptprm	A	T	17: 66,996,460 (GRCm39)	L1209H	probably damaging	Het
Rnf115	G	A	3: 96,635,164 (GRCm39)		probably benign	Het
Sec63	A	G	10: 42,672,241 (GRCm39)	D185G	possibly damaging	Het
Sema4b	T	C	7: 79,874,706 (GRCm39)	S699P	probably damaging	Het
Serpinb3d	T	G	1: 107,006,089 (GRCm39)	E333A	probably damaging	Het
Sh3rf2	T	C	18: 42,274,112 (GRCm39)	L426P	possibly damaging	Het
Slco6d1	A	G	1: 98,427,503 (GRCm39)	I611M	probably damaging	Het
Stk31	T	A	6: 49,394,219 (GRCm39)	Y194N	probably damaging	Het
Tlr9	G	A	9: 106,099,906 (GRCm39)		probably null	Het
Ubqln3	G	A	7: 103,790,674 (GRCm39)	P472L	probably benign	Het
Vmn1r188	G	A	13: 22,272,256 (GRCm39)	G70D	possibly damaging	Het
Zfp318	A	G	17: 46,723,699 (GRCm39)	M1901V	probably benign	Het
Zfp407	A	T	18: 84,578,649 (GRCm39)	D821E	probably benign	Het

Other mutations in Prmt3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00930:Prmt3	APN	7	49,441,757 (GRCm39)	missense	probably damaging	1.00
IGL01444:Prmt3	APN	7	49,430,120 (GRCm39)	missense	probably benign	0.00
IGL01688:Prmt3	APN	7	49,498,480 (GRCm39)	splice site	probably null
IGL02041:Prmt3	APN	7	49,478,711 (GRCm39)	missense	possibly damaging	0.91
IGL02304:Prmt3	APN	7	49,476,485 (GRCm39)	missense	probably benign	0.44
IGL02389:Prmt3	APN	7	49,498,506 (GRCm39)	nonsense	probably null
IGL02879:Prmt3	APN	7	49,467,811 (GRCm39)	missense	probably benign	0.39
K7894:Prmt3	UTSW	7	49,476,459 (GRCm39)	missense	probably damaging	1.00
R0616:Prmt3	UTSW	7	49,437,076 (GRCm39)	missense	probably damaging	1.00
R0667:Prmt3	UTSW	7	49,441,743 (GRCm39)	missense	probably damaging	1.00
R1170:Prmt3	UTSW	7	49,498,295 (GRCm39)	critical splice donor site	probably null
R1343:Prmt3	UTSW	7	49,467,856 (GRCm39)	missense	probably benign	0.19
R1562:Prmt3	UTSW	7	49,476,602 (GRCm39)	missense	probably benign	0.00
R1614:Prmt3	UTSW	7	49,476,467 (GRCm39)	missense	possibly damaging	0.95
R1777:Prmt3	UTSW	7	49,448,094 (GRCm39)	missense	possibly damaging	0.92
R3113:Prmt3	UTSW	7	49,431,760 (GRCm39)	missense	probably damaging	1.00
R4170:Prmt3	UTSW	7	49,476,524 (GRCm39)	missense	probably benign	0.01
R4403:Prmt3	UTSW	7	49,430,105 (GRCm39)	missense	probably damaging	1.00
R4463:Prmt3	UTSW	7	49,467,837 (GRCm39)	missense	probably damaging	1.00
R4962:Prmt3	UTSW	7	49,476,557 (GRCm39)	missense	probably benign	0.00
R5144:Prmt3	UTSW	7	49,435,883 (GRCm39)	missense	possibly damaging	0.48
R5364:Prmt3	UTSW	7	49,498,554 (GRCm39)	missense	probably damaging	1.00
R5586:Prmt3	UTSW	7	49,476,499 (GRCm39)	missense	probably damaging	1.00
R5624:Prmt3	UTSW	7	49,430,082 (GRCm39)	missense	probably damaging	0.97
R5992:Prmt3	UTSW	7	49,478,695 (GRCm39)	missense	probably benign	0.00
R6931:Prmt3	UTSW	7	49,478,764 (GRCm39)	missense	probably benign	0.00
R7117:Prmt3	UTSW	7	49,467,843 (GRCm39)	missense	probably benign	0.00
R7889:Prmt3	UTSW	7	49,437,049 (GRCm39)	missense	possibly damaging	0.87
R8298:Prmt3	UTSW	7	49,507,186 (GRCm39)	missense	probably benign
R8831:Prmt3	UTSW	7	49,478,729 (GRCm39)	missense	probably null	0.14
R9053:Prmt3	UTSW	7	49,430,104 (GRCm39)	missense	probably damaging	1.00
R9333:Prmt3	UTSW	7	49,456,308 (GRCm39)	missense	probably damaging	0.98
X0064:Prmt3	UTSW	7	49,431,722 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGTTAGATTTGTGCCCCAAGG -3'
(R):5'- ACTGGAAACTTTTCTAAGCATGG -3'

Sequencing Primer
(F):5'- CAAGGTGTTTGGTCAGAAGC -3'
(R):5'- TTGGGTCTACTTAAAGAGCAGC -3'

Posted On

2016-12-20