Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01444:Prmt3'

84350

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prmt3

Ensembl Gene

ENSMUSG00000030505

Gene Name

protein arginine N-methyltransferase 3

Synonyms

Hrmt1l3, 2010005E20Rik, 2410018A17Rik

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.703) question?

Stock #

IGL01444

Quality Score

Status

Chromosome

Chromosomal Location

49778346-49858265 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 49780372 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 74 (D74E)

Ref Sequence

ENSEMBL: ENSMUSP00000032715 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000032715
AA Change: D74E

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

SMART Domains

Protein: ENSMUSP00000032715
Gene: ENSMUSG00000030505
AA Change: D74E

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

noncoding transcript
Transcript: ENSMUST00000140656

SMART Domains

Protein: ENSMUSP00000124114
Gene: ENSMUSG00000030505

Domain	Start	End	E-Value	Type
low complexity region	22	36	N/A	INTRINSIC
ZnF_C2H2	46	69	2.41e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145666

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146052

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148996

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152127

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207216

Coding Region Coverage

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	G	11: 23,620,225		probably benign	Het
Adad1	A	T	3: 37,092,034	N517I	probably damaging	Het
Adam25	G	A	8: 40,754,921	R408H	probably benign	Het
Ang	C	A	14: 51,101,667	Y88*	probably null	Het
Ankrd42	T	C	7: 92,610,585	T327A	probably damaging	Het
Birc6	A	G	17: 74,631,687	D2696G	probably damaging	Het
Chd3	G	A	11: 69,348,742	T1717M	probably benign	Het
Csmd1	T	A	8: 16,200,055	M970L	probably benign	Het
Dhx32	T	C	7: 133,748,977	I121M	possibly damaging	Het
Dnah11	G	A	12: 118,020,232	S2506F	possibly damaging	Het
Dscam	T	A	16: 96,673,709	I1218F	possibly damaging	Het
Duox1	T	C	2: 122,340,090	L1197P	probably damaging	Het
Eps8l2	T	C	7: 141,361,375		probably benign	Het
Exoc3	T	C	13: 74,206,935	K49R	probably damaging	Het
Exoc8	T	A	8: 124,895,841	T596S	possibly damaging	Het
F13a1	C	T	13: 36,918,577	G391R	probably null	Het
Fam35a	C	A	14: 34,237,557	V823F	probably damaging	Het
Fat3	A	T	9: 15,998,848	S1953T	probably damaging	Het
Gls2	C	A	10: 128,201,347	N252K	probably damaging	Het
Gm5346	A	T	8: 43,626,433	D251E	probably benign	Het
Haus2	G	A	2: 120,615,942	R115K	probably benign	Het
Ift122	A	G	6: 115,884,379	K262E	probably benign	Het
Islr2	C	T	9: 58,198,378	C533Y	probably damaging	Het
Lrp2	A	T	2: 69,443,716	F3997I	possibly damaging	Het
Nt5c1a	C	T	4: 123,216,169	R354W	probably damaging	Het
Olfr776	T	A	10: 129,261,335	C125S	probably damaging	Het
Pcolce	A	T	5: 137,607,476	S200R	probably damaging	Het
Plec	A	G	15: 76,179,297	V2213A	possibly damaging	Het
Ptk7	A	G	17: 46,565,387	F1046S	probably damaging	Het
Ranbp2	T	C	10: 58,475,300	Y887H	possibly damaging	Het
Sez6l2	G	A	7: 126,961,883	E447K	possibly damaging	Het
Snrnp70	C	T	7: 45,387,236		probably null	Het
Timm10	T	A	2: 84,829,864	V49E	probably damaging	Het
Tox2	T	C	2: 163,225,466		probably benign	Het
Usp20	T	A	2: 30,998,789	M1K	probably null	Het
Usp32	A	C	11: 85,059,164	L223V	probably damaging	Het
Zeb1	T	C	18: 5,767,138	S550P	probably benign	Het
Zeb1	G	T	18: 5,767,906	A806S	probably damaging	Het

Other mutations in Prmt3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00930:Prmt3	APN	7	49792009	missense	probably damaging	1.00
IGL01688:Prmt3	APN	7	49848732	splice site	probably null
IGL02041:Prmt3	APN	7	49828963	missense	possibly damaging	0.91
IGL02304:Prmt3	APN	7	49826737	missense	probably benign	0.44
IGL02389:Prmt3	APN	7	49848758	nonsense	probably null
IGL02879:Prmt3	APN	7	49818063	missense	probably benign	0.39
K7894:Prmt3	UTSW	7	49826711	missense	probably damaging	1.00
R0616:Prmt3	UTSW	7	49787328	missense	probably damaging	1.00
R0667:Prmt3	UTSW	7	49791995	missense	probably damaging	1.00
R1170:Prmt3	UTSW	7	49848547	critical splice donor site	probably null
R1343:Prmt3	UTSW	7	49818108	missense	probably benign	0.19
R1562:Prmt3	UTSW	7	49826854	missense	probably benign	0.00
R1614:Prmt3	UTSW	7	49826719	missense	possibly damaging	0.95
R1777:Prmt3	UTSW	7	49798346	missense	possibly damaging	0.92
R3113:Prmt3	UTSW	7	49782012	missense	probably damaging	1.00
R4170:Prmt3	UTSW	7	49826776	missense	probably benign	0.01
R4403:Prmt3	UTSW	7	49780357	missense	probably damaging	1.00
R4463:Prmt3	UTSW	7	49818089	missense	probably damaging	1.00
R4962:Prmt3	UTSW	7	49826809	missense	probably benign	0.00
R5144:Prmt3	UTSW	7	49786135	missense	possibly damaging	0.48
R5364:Prmt3	UTSW	7	49848806	missense	probably damaging	1.00
R5586:Prmt3	UTSW	7	49826751	missense	probably damaging	1.00
R5624:Prmt3	UTSW	7	49780334	missense	probably damaging	0.97
R5820:Prmt3	UTSW	7	49848806	missense	probably damaging	1.00
R5992:Prmt3	UTSW	7	49828947	missense	probably benign	0.00
R6931:Prmt3	UTSW	7	49829016	missense	probably benign	0.00
R7117:Prmt3	UTSW	7	49818095	missense	probably benign	0.00
R7889:Prmt3	UTSW	7	49787301	missense	possibly damaging	0.87
R7972:Prmt3	UTSW	7	49787301	missense	possibly damaging	0.87
X0064:Prmt3	UTSW	7	49781974	nonsense	probably null

Posted On

2013-11-11