Mutagenetix > Incidental Mutation

Incidental Mutation 'R7117:Prmt3'

551846

Institutional Source

Beutler Lab

Gene Symbol

Prmt3

Ensembl Gene

ENSMUSG00000030505

Gene Name

protein arginine N-methyltransferase 3

Synonyms

2410018A17Rik, 2010005E20Rik, Hrmt1l3

MMRRC Submission

045208-MU

Accession Numbers

Essential gene?

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

Stock #

R7117 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49428094-49508013 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 49467843 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 350 (A350S)

Ref Sequence

ENSEMBL: ENSMUSP00000032715 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000032715
AA Change: A350S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000032715
Gene: ENSMUSG00000030505
AA Change: A350S

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

Meta Mutation Damage Score

0.0607

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

97% (95/98)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	C	5: 113,339,250 (GRCm39)	Y254C	probably benign	Het
4930480E11Rik	G	T	X: 77,414,311 (GRCm39)	M345I	probably benign	Het
Adam12	T	C	7: 133,518,191 (GRCm39)	I650V	probably benign	Het
Adam39	G	T	8: 41,279,279 (GRCm39)	G557C	probably damaging	Het
Ak5	A	G	3: 152,321,493 (GRCm39)		probably null	Het
Arhgef10l	C	T	4: 140,291,497 (GRCm39)		probably null	Het
Arhgef37	C	T	18: 61,637,481 (GRCm39)	E394K	probably benign	Het
Baz2b	A	G	2: 59,742,841 (GRCm39)	V13A		Het
Bnc1	G	T	7: 81,623,109 (GRCm39)	A706E	possibly damaging	Het
Bscl2	G	A	19: 8,825,878 (GRCm39)	A421T	possibly damaging	Het
Btn1a1	A	C	13: 23,643,415 (GRCm39)	W345G	possibly damaging	Het
C3	A	T	17: 57,519,655 (GRCm39)	M1199K	probably benign	Het
Ccdc18	T	G	5: 108,296,835 (GRCm39)	L213V	possibly damaging	Het
Cers2	T	C	3: 95,228,072 (GRCm39)		probably null	Het
Chpt1	T	A	10: 88,316,711 (GRCm39)	H249L	probably damaging	Het
Cited2	A	G	10: 17,600,364 (GRCm39)	E224G	possibly damaging	Het
Cntn5	T	A	9: 10,904,704 (GRCm39)		probably benign	Het
Col28a1	A	G	6: 8,013,122 (GRCm39)	S977P	possibly damaging	Het
Col6a1	T	C	10: 76,560,843 (GRCm39)	K52E	probably damaging	Het
Cpne2	T	A	8: 95,282,172 (GRCm39)	H239Q	probably damaging	Het
Cr2	A	T	1: 194,842,909 (GRCm39)	N244K	possibly damaging	Het
Csf2rb2	T	C	15: 78,169,385 (GRCm39)	D590G	probably damaging	Het
Defb25	A	C	2: 152,464,380 (GRCm39)	C55G	probably damaging	Het
Dnah7b	A	T	1: 46,391,973 (GRCm39)		probably null	Het
Dvl3	T	A	16: 20,346,072 (GRCm39)	Y467*	probably null	Het
Elapor2	T	A	5: 9,495,384 (GRCm39)	C729*	probably null	Het
Extl2	T	C	3: 115,821,088 (GRCm39)	S312P	probably damaging	Het
Fam178b	T	C	1: 36,639,548 (GRCm39)	T313A	probably benign	Het
Fam186b	A	G	15: 99,183,471 (GRCm39)	Y58H	probably damaging	Het
Fat1	A	T	8: 45,484,505 (GRCm39)	I3248L	probably damaging	Het
Fat2	A	G	11: 55,172,088 (GRCm39)	F2875S	probably damaging	Het
Flnb	T	A	14: 7,894,214 (GRCm38)	N760K	probably benign	Het
Galnt14	T	C	17: 73,801,190 (GRCm39)	H544R	probably benign	Het
Gpr137c	A	C	14: 45,516,484 (GRCm39)	R357S	probably damaging	Het
Grk2	A	G	19: 4,340,630 (GRCm39)		probably null	Het
Hectd2	A	T	19: 36,577,055 (GRCm39)	T342S	probably benign	Het
Hjv	G	T	3: 96,435,542 (GRCm39)	V267L	possibly damaging	Het
Ildr2	G	T	1: 166,123,380 (GRCm39)	G270C	probably damaging	Het
Insm2	C	A	12: 55,647,357 (GRCm39)	A367D	probably damaging	Het
Kcnh5	T	A	12: 75,161,219 (GRCm39)	I230F	possibly damaging	Het
Keg1	T	A	19: 12,687,042 (GRCm39)	S24T	probably damaging	Het
Kera	A	T	10: 97,448,714 (GRCm39)	E311D	probably benign	Het
Kit	T	A	5: 75,767,758 (GRCm39)	I47K	probably benign	Het
Megf6	A	G	4: 154,343,379 (GRCm39)	T663A	possibly damaging	Het
Mettl21c	G	A	1: 44,049,808 (GRCm39)	A79V	probably damaging	Het
Mfsd1	T	A	3: 67,507,391 (GRCm39)		probably null	Het
Mob3b	A	G	4: 34,985,914 (GRCm39)		probably null	Het
Morc2b	T	A	17: 33,356,926 (GRCm39)	H282L	probably benign	Het
Mtpap	T	C	18: 4,380,889 (GRCm39)		probably null	Het
Mtus1	A	G	8: 41,536,621 (GRCm39)	V365A	possibly damaging	Het
Muc5ac	T	A	7: 141,367,559 (GRCm39)	Y2993*	probably null	Het
Mycbp2	A	C	14: 103,391,513 (GRCm39)	F3422V	probably benign	Het
Ndufb7	T	A	8: 84,297,490 (GRCm39)	D48E	probably benign	Het
Nxpe5	A	G	5: 138,237,704 (GRCm39)	Y88C	probably damaging	Het
Or51a6	T	A	7: 102,604,185 (GRCm39)	M208L	probably benign	Het
Or5d3	A	G	2: 88,174,905 (GRCm39)	L64P	probably damaging	Het
Osbpl5	T	A	7: 143,263,520 (GRCm39)	D121V	probably benign	Het
Oxnad1	A	T	14: 31,813,608 (GRCm39)	H3L	probably benign	Het
Pam	C	A	1: 97,904,841 (GRCm39)		probably benign	Het
Papolg	T	C	11: 23,845,207 (GRCm39)		probably benign	Het
Pax1	G	A	2: 147,208,190 (GRCm39)	G266D	probably damaging	Het
Pde11a	A	T	2: 75,906,348 (GRCm39)	M623K	probably damaging	Het
Peg3	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	7: 6,712,167 (GRCm39)		probably benign	Het
Phf21a	A	T	2: 92,189,502 (GRCm39)	Q587L	probably benign	Het
Plcb3	A	G	19: 6,941,746 (GRCm39)	L336P	probably damaging	Het
Pnp2	T	C	14: 51,201,931 (GRCm39)	*306Q	probably null	Het
Pou5f2	A	G	13: 78,173,392 (GRCm39)	I111M	probably benign	Het
Pramel32	T	A	4: 88,547,195 (GRCm39)	M246L	probably damaging	Het
Rac3	A	T	11: 120,614,343 (GRCm39)	R163*	probably null	Het
Raly	G	T	2: 154,699,432 (GRCm39)	V79L	probably benign	Het
Rbm20	A	T	19: 53,839,989 (GRCm39)	T993S	possibly damaging	Het
Rwdd3	A	G	3: 120,964,987 (GRCm39)	L56P	probably benign	Het
Serpina3a	C	T	12: 104,082,436 (GRCm39)	H70Y	possibly damaging	Het
Sez6l2	A	C	7: 126,552,915 (GRCm39)	E227A	possibly damaging	Het
Shank1	C	T	7: 43,976,585 (GRCm39)	A561V	unknown	Het
Sidt2	C	T	9: 45,864,517 (GRCm39)	V71I	probably benign	Het
Slc35f6	T	C	5: 30,815,051 (GRCm39)	L326P	probably damaging	Het
Sox2	G	A	3: 34,705,075 (GRCm39)	G171S	possibly damaging	Het
Spef2	G	A	15: 9,729,924 (GRCm39)	R65C	probably damaging	Het
Spmap2	A	T	10: 79,420,741 (GRCm39)		probably null	Het
Stip1	C	T	19: 6,999,178 (GRCm39)	G467S	possibly damaging	Het
Tada2a	T	A	11: 83,976,514 (GRCm39)	I327F	probably damaging	Het
Tex2	A	G	11: 106,435,071 (GRCm39)	V785A	unknown	Het
Thada	C	A	17: 84,538,214 (GRCm39)		probably null	Het
Tmed1	G	A	9: 21,420,550 (GRCm39)	T94M	possibly damaging	Het
Tsr1	G	T	11: 74,790,360 (GRCm39)	M149I	probably benign	Het
Ttc8	T	C	12: 98,942,761 (GRCm39)	Y434H	possibly damaging	Het
Ttn	A	G	2: 76,578,519 (GRCm39)	Y24125H	probably damaging	Het
Ttn	G	T	2: 76,552,253 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,773,235 (GRCm39)	I2435T	unknown	Het
Uggt2	T	C	14: 119,251,938 (GRCm39)	I1174M	probably benign	Het
Unc13b	T	C	4: 43,216,544 (GRCm39)	I281T	probably benign	Het
Usp1	G	T	4: 98,817,127 (GRCm39)	K106N	possibly damaging	Het
Vwa3b	A	G	1: 37,174,634 (GRCm39)	D15G		Het
Zfp28	G	A	7: 6,397,461 (GRCm39)	C632Y	probably damaging	Het
Zfp68	T	C	5: 138,604,580 (GRCm39)	D581G	probably benign	Het
Zmynd10	A	C	9: 107,424,716 (GRCm39)	S21R	probably benign	Het
Zswim4	C	T	8: 84,940,681 (GRCm39)	R806H	probably 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
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'- TTCATCCCCAAGTTTCCAGG -3'
(R):5'- TGTCCTAAGAAACTATGACCTTGG -3'

Sequencing Primer
(F):5'- ATCCCCAAGTTTCCAGGGTTTAC -3'
(R):5'- GGACTCCCCGTATCTTAAGTGAC -3'

Posted On

2019-05-15