Mutagenetix > Incidental Mutation

Incidental Mutation 'R8831:Prmt3'

673826

Institutional Source

Beutler Lab

Gene Symbol

Prmt3

Ensembl Gene

ENSMUSG00000030505

Gene Name

protein arginine N-methyltransferase 3

Synonyms

2410018A17Rik, 2010005E20Rik, Hrmt1l3

MMRRC Submission

068659-MU

Accession Numbers

Essential gene?

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

Stock #

R8831 (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 49478729 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 430 (E430G)

Ref Sequence

ENSEMBL: ENSMUSP00000032715 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000032715
AA Change: E430G

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000032715
Gene: ENSMUSG00000030505
AA Change: E430G

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: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (81/82)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230072I06Rik	A	T	8: 12,329,688 (GRCm39)	I48L	unknown	Het
Abcc3	A	C	11: 94,241,787 (GRCm39)	C1415G	probably damaging	Het
Abcf3	C	T	16: 20,369,214 (GRCm39)	R205C	probably damaging	Het
Abcg5	G	T	17: 84,976,423 (GRCm39)	H471Q	probably damaging	Het
Actl6b	G	A	5: 137,565,305 (GRCm39)	R363Q	probably damaging	Het
Adcy1	T	A	11: 7,111,362 (GRCm39)	D884E	probably benign	Het
Aldh3a1	A	G	11: 61,107,142 (GRCm39)	Y282C	probably damaging	Het
Amdhd2	A	G	17: 24,376,712 (GRCm39)		probably null	Het
Arfgef3	A	G	10: 18,528,491 (GRCm39)	S299P	possibly damaging	Het
Asic2	A	T	11: 81,858,726 (GRCm39)	N95K	probably damaging	Het
Atp2c2	A	G	8: 120,476,033 (GRCm39)		probably null	Het
Atrn	T	C	2: 130,748,521 (GRCm39)	L14P	probably benign	Het
C8b	A	G	4: 104,647,874 (GRCm39)	Y355C	probably damaging	Het
Carm1	A	G	9: 21,491,663 (GRCm39)	E244G	probably damaging	Het
Cd300c2	A	T	11: 114,891,844 (GRCm39)	C39*	probably null	Het
Cish	T	A	9: 107,177,671 (GRCm39)	F116I	probably damaging	Het
Clstn1	G	A	4: 149,730,780 (GRCm39)	R837Q	probably benign	Het
Cox10	A	G	11: 63,855,306 (GRCm39)	F325S	probably damaging	Het
Cplane1	T	C	15: 8,211,620 (GRCm39)	I320T	probably benign	Het
Ctps1	A	T	4: 120,424,507 (GRCm39)	S36T	possibly damaging	Het
Dchs2	T	C	3: 83,192,670 (GRCm39)	L1705P	probably benign	Het
Defb25	C	A	2: 152,464,899 (GRCm39)	V17L	probably benign	Het
Dhx16	A	G	17: 36,199,000 (GRCm39)	D782G	probably damaging	Het
Dhx30	A	G	9: 109,917,319 (GRCm39)	S399P	probably benign	Het
Dhx58	T	A	11: 100,594,806 (GRCm39)	K30M	probably damaging	Het
Drc7	G	A	8: 95,788,845 (GRCm39)	R301Q	probably damaging	Het
Dsg1a	T	C	18: 20,453,365 (GRCm39)	V21A	probably damaging	Het
Ercc6	T	A	14: 32,282,784 (GRCm39)		probably null	Het
Fam193a	A	G	5: 34,616,374 (GRCm39)	T850A	probably benign	Het
Fgf10	A	G	13: 118,925,671 (GRCm39)	D150G	probably damaging	Het
Flii	A	T	11: 60,616,074 (GRCm39)	N28K	probably benign	Het
Gfi1	G	A	5: 107,868,138 (GRCm39)	R377C	probably damaging	Het
Gfra2	A	T	14: 71,204,503 (GRCm39)	N324I	probably benign	Het
Gm10308	A	G	17: 91,396,431 (GRCm39)	R118G	unknown	Het
Gm10801	T	A	2: 98,494,334 (GRCm39)	V137E	probably damaging	Het
Hmmr	G	A	11: 40,612,499 (GRCm39)	S206F	probably damaging	Het
Hsd3b9	A	T	3: 98,354,047 (GRCm39)	W151R	probably benign	Het
Ift80	G	A	3: 68,869,583 (GRCm39)	A236V	probably damaging	Het
Il1rn	A	T	2: 24,239,505 (GRCm39)	T134S	possibly damaging	Het
Il6st	G	T	13: 112,640,914 (GRCm39)	D897Y	probably damaging	Het
Imp4	T	C	1: 34,483,445 (GRCm39)	M257T	probably benign	Het
Impdh2	T	C	9: 108,441,957 (GRCm39)	L377S	probably damaging	Het
Kdm1b	C	A	13: 47,217,617 (GRCm39)	L359I	possibly damaging	Het
Kidins220	A	T	12: 25,086,454 (GRCm39)	I963L	possibly damaging	Het
Mdm4	T	C	1: 132,931,601 (GRCm39)	R148G	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Ncor1	A	T	11: 62,260,234 (GRCm39)	D505E	probably benign	Het
Necab3	A	T	2: 154,396,607 (GRCm39)	L107Q	probably damaging	Het
Nkx2-4	G	A	2: 146,927,114 (GRCm39)	P51L	probably benign	Het
Nol11	T	C	11: 107,067,662 (GRCm39)	T388A	probably benign	Het
Npc1	T	A	18: 12,333,877 (GRCm39)	M735L	probably benign	Het
Nr1h3	C	A	2: 91,021,091 (GRCm39)	R232L	probably benign	Het
Nrcam	T	A	12: 44,591,680 (GRCm39)		probably null	Het
Or1j13	G	A	2: 36,369,794 (GRCm39)	T116I	possibly damaging	Het
Or52s1b	T	A	7: 102,822,203 (GRCm39)	I214L	probably benign	Het
Pabpn1	T	C	14: 55,131,914 (GRCm39)	V101A	probably damaging	Het
Pcare	A	T	17: 72,059,305 (GRCm39)	V124E	probably benign	Het
Pcbp2	A	G	15: 102,394,453 (GRCm39)	D217G	probably benign	Het
Pcdhb12	A	G	18: 37,570,386 (GRCm39)	M511V	probably benign	Het
Phf3	T	A	1: 30,860,347 (GRCm39)	K828*	probably null	Het
Plcg1	G	C	2: 160,589,732 (GRCm39)	K85N	probably benign	Het
Prag1	A	T	8: 36,613,891 (GRCm39)	T1148S	probably benign	Het
Prx	G	T	7: 27,217,538 (GRCm39)	V819F	probably damaging	Het
Ptpn18	A	T	1: 34,511,271 (GRCm39)	R338W	probably null	Het
Rab6a	T	C	7: 100,283,931 (GRCm39)	Y128H	probably benign	Het
Rgs2	T	C	1: 143,877,497 (GRCm39)	Y186C	probably damaging	Het
Rhbdl1	C	T	17: 26,053,857 (GRCm39)	V342M	probably damaging	Het
Rpn1	A	G	6: 88,061,775 (GRCm39)	Q88R	probably benign	Het
Slc19a2	C	T	1: 164,084,443 (GRCm39)	T111M	probably damaging	Het
Slc35e4	G	A	11: 3,863,087 (GRCm39)	P34L	possibly damaging	Het
Slc7a6os	A	T	8: 106,937,189 (GRCm39)	D90E	probably benign	Het
Ssh3	A	G	19: 4,319,053 (GRCm39)	V19A	possibly damaging	Het
Susd1	C	T	4: 59,379,594 (GRCm39)		probably benign	Het
Tcf19	A	T	17: 35,825,794 (GRCm39)	M121K	possibly damaging	Het
Tcp11	G	A	17: 28,299,193 (GRCm39)	R21C	probably damaging	Het
Tcp11l2	A	G	10: 84,449,522 (GRCm39)	I496V	probably damaging	Het
Tenm3	C	T	8: 48,729,417 (GRCm39)	A1530T		Het
Tmem127	T	A	2: 127,098,979 (GRCm39)	V171D	probably damaging	Het
Tyrp1	G	A	4: 80,753,399 (GRCm39)	C30Y	probably damaging	Het
Usp48	A	T	4: 137,341,080 (GRCm39)	D360V	probably damaging	Het
Vamp4	T	A	1: 162,401,952 (GRCm39)	D11E	possibly damaging	Het
Vmn1r14	T	C	6: 57,210,505 (GRCm39)	F28L	probably benign	Het
Vmn2r69	G	T	7: 85,059,018 (GRCm39)	C514*	probably null	Het
Vmn2r84	G	A	10: 130,226,968 (GRCm39)	A290V	probably benign	Het
Zfp1007	A	T	5: 109,824,174 (GRCm39)	S425R	probably benign	Het
Zhx3	T	A	2: 160,622,691 (GRCm39)	Y492F	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
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
R7889:Prmt3	UTSW	7	49,437,049 (GRCm39)	missense	possibly damaging	0.87
R8298:Prmt3	UTSW	7	49,507,186 (GRCm39)	missense	probably benign
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'- CTTGGAAAGAACCCTCAGAATGG -3'
(R):5'- GCTGCAGTGACTTTTCTGAATTC -3'

Sequencing Primer
(F):5'- AACCCTCAGAATGGTGTGTG -3'
(R):5'- GCAGATCTGTCCAGTGATAGC -3'

Posted On

2021-07-15