Mutagenetix > Incidental Mutation

Incidental Mutation 'R7889:Prmt3'

609213

Institutional Source

Beutler Lab

Gene Symbol

Prmt3

Ensembl Gene

ENSMUSG00000030505

Gene Name

protein arginine N-methyltransferase 3

Synonyms

2410018A17Rik, 2010005E20Rik, Hrmt1l3

MMRRC Submission

045941-MU

Accession Numbers

Essential gene?

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

Stock #

R7889 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49428094-49508013 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49437049 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 208 (D208G)

Ref Sequence

ENSEMBL: ENSMUSP00000032715 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032715] [ENSMUST00000147401]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032715
AA Change: D208G

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000032715
Gene: ENSMUSG00000030505
AA Change: D208G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000147401

SMART Domains

Protein: ENSMUSP00000115155
Gene: ENSMUSG00000030505

Domain	Start	End	E-Value	Type
low complexity region	22	36	N/A	INTRINSIC
PDB:1WIR\|A	38	64	1e-13	PDB
Blast:ZnF_C2H2	46	64	1e-5	BLAST

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (61/61)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg2a	A	G	3: 37,632,959 (GRCm39)	D855G	probably benign	Het
Angptl3	C	T	4: 98,919,308 (GRCm39)	L23F	probably benign	Het
Art2a	C	T	7: 101,204,418 (GRCm39)	S40N	not run	Het
Ash1l	A	G	3: 88,873,345 (GRCm39)	T43A	probably benign	Het
Atp1a2	G	A	1: 172,105,631 (GRCm39)		probably null	Het
Azi2	A	G	9: 117,890,983 (GRCm39)	E336G	probably benign	Het
Cap2	A	G	13: 46,800,051 (GRCm39)	H419R	probably damaging	Het
Ccdc14	T	A	16: 34,544,206 (GRCm39)	S903T	probably damaging	Het
Cep72	A	T	13: 74,198,241 (GRCm39)	S380T	possibly damaging	Het
Clca3a2	C	A	3: 144,516,574 (GRCm39)	E341*	probably null	Het
Clcnkb	T	G	4: 141,137,915 (GRCm39)	I294L	probably benign	Het
Csnk2a1-ps3	G	A	1: 156,352,965 (GRCm39)	A389T	probably benign	Het
Cyp2d9	T	A	15: 82,340,027 (GRCm39)	M350K	probably damaging	Het
Dhx40	T	G	11: 86,689,793 (GRCm39)	I266L	probably benign	Het
Dnah5	G	T	15: 28,448,560 (GRCm39)	E4208*	probably null	Het
Dync2i1	T	A	12: 116,219,559 (GRCm39)	K128*	probably null	Het
Ephb2	T	C	4: 136,498,353 (GRCm39)	N242S	probably damaging	Het
Fam13b	A	T	18: 34,590,744 (GRCm39)	F478Y	probably benign	Het
Fastkd2	C	G	1: 63,774,619 (GRCm39)		probably null	Het
Fbxo40	T	A	16: 36,790,012 (GRCm39)	D366V	probably damaging	Het
Fhod3	A	T	18: 24,903,551 (GRCm39)	K95M	probably damaging	Het
Foxo3	T	A	10: 42,151,023 (GRCm39)	Q136L	probably benign	Het
Gadl1	A	T	9: 115,783,883 (GRCm39)	Q236L	possibly damaging	Het
Galnt13	A	G	2: 55,002,873 (GRCm39)	D560G	probably benign	Het
Ghsr	A	G	3: 27,426,315 (GRCm39)	S124G	probably benign	Het
Gkn2	A	G	6: 87,355,268 (GRCm39)		probably null	Het
Glyctk	T	A	9: 106,033,638 (GRCm39)	R68W	unknown	Het
Gm5157	G	A	7: 20,918,641 (GRCm39)	P301S	unknown	Het
Hdc	A	T	2: 126,458,130 (GRCm39)	I64N	probably damaging	Het
Helq	A	T	5: 100,940,427 (GRCm39)		probably null	Het
Ighv1-43	T	C	12: 114,909,583 (GRCm39)	Y113C	probably damaging	Het
Ipo9	T	C	1: 135,334,591 (GRCm39)	T273A	probably benign	Het
Itga4	G	A	2: 79,146,389 (GRCm39)	V774I	probably benign	Het
Itpr3	T	C	17: 27,335,751 (GRCm39)	L2287P	probably damaging	Het
Llgl1	T	A	11: 60,598,138 (GRCm39)	I394N	probably damaging	Het
Mta1	G	A	12: 113,095,308 (GRCm39)	R487H	probably benign	Het
Neb	T	C	2: 52,037,681 (GRCm39)	D7049G	probably benign	Het
Nlrp4f	G	A	13: 65,342,832 (GRCm39)	S271F	probably damaging	Het
Noxo1	A	G	17: 24,918,356 (GRCm39)	D172G	probably damaging	Het
Nup155	T	A	15: 8,150,991 (GRCm39)	V347E	probably damaging	Het
Oaf	G	T	9: 43,133,968 (GRCm39)	A251E	possibly damaging	Het
Pds5b	T	A	5: 150,715,637 (GRCm39)	F1039I	probably damaging	Het
Pla2g12b	T	A	10: 59,257,062 (GRCm39)		probably null	Het
Ptcd3	G	A	6: 71,865,592 (GRCm39)	T441M	probably damaging	Het
Rabl6	A	G	2: 25,474,786 (GRCm39)		probably null	Het
Shtn1	T	A	19: 58,992,328 (GRCm39)	I417F	probably damaging	Het
Slc20a2	T	C	8: 23,030,417 (GRCm39)	S158P	probably damaging	Het
Sltm	C	G	9: 70,493,955 (GRCm39)	P802R	possibly damaging	Het
Spef2	T	C	15: 9,717,649 (GRCm39)	Y232C	probably damaging	Het
Stard9	C	T	2: 120,534,942 (GRCm39)	T3733I	probably benign	Het
Thrap3	A	T	4: 126,071,855 (GRCm39)	F512L	probably benign	Het
Tmem150c	A	T	5: 100,240,963 (GRCm39)	I30K	probably damaging	Het
Tnnt1	C	T	7: 4,511,582 (GRCm39)	A168T	probably damaging	Het
Trak2	A	G	1: 58,957,983 (GRCm39)	L308P	probably damaging	Het
Trp53i11	T	C	2: 93,029,244 (GRCm39)	L81P	probably damaging	Het
Usp16	T	C	16: 87,271,472 (GRCm39)	Y344H	probably benign	Het
Vinac1	T	C	2: 128,878,914 (GRCm39)	E1004G	unknown	Het
Xrcc5	G	T	1: 72,395,985 (GRCm39)	V593L	probably benign	Het
Zcchc14	A	T	8: 122,331,634 (GRCm39)	H576Q	unknown	Het
Zfp616	T	A	11: 73,976,271 (GRCm39)	C847S	probably damaging	Het
Zfp626	A	T	7: 27,518,924 (GRCm39)	Y635F	probably benign	Het
Zfp799	G	A	17: 33,038,473 (GRCm39)	R598*	probably null	Het
Zfp831	A	G	2: 174,487,097 (GRCm39)	K591E	possibly damaging	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
R5820:Prmt3	UTSW	7	49,498,554 (GRCm39)	missense	probably damaging	1.00
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
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'- TTTAAGAGGCTGGGCACAC -3'
(R):5'- CTTCTCATCTTGGGAGCGTG -3'

Sequencing Primer
(F):5'- GCACACTGCCCTTCTCC -3'
(R):5'- AGCGTGGGAGCATATGTG -3'

Posted On

2019-12-20