Mutagenetix > Incidental Mutation

Incidental Mutation 'R2401:Prmt2'

248699

Institutional Source

Beutler Lab

Gene Symbol

Prmt2

Ensembl Gene

ENSMUSG00000020230

Gene Name

protein arginine N-methyltransferase 2

Synonyms

Hrmt1l1

MMRRC Submission

040367-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2401 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76207222-76237865 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 76225415 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 79 (W79*)

Ref Sequence

ENSEMBL: ENSMUSP00000137725 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020452] [ENSMUST00000099571] [ENSMUST00000099572] [ENSMUST00000128099] [ENSMUST00000137857] [ENSMUST00000217726]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000020452
AA Change: W79*

SMART Domains

Protein: ENSMUSP00000020452
Gene: ENSMUSG00000020230
AA Change: W79*

Domain	Start	End	E-Value	Type
low complexity region	30	43	N/A	INTRINSIC
SH3	45	100	4.22e-15	SMART
Pfam:PrmA	122	253	2.5e-8	PFAM
Pfam:PRMT5	123	427	2.4e-13	PFAM
Pfam:Met_10	127	244	5.1e-8	PFAM
Pfam:MTS	134	223	5.7e-11	PFAM
Pfam:Methyltransf_31	147	294	1.5e-8	PFAM
Pfam:Methyltransf_26	150	224	1.2e-9	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000099571
AA Change: W79*

SMART Domains

Protein: ENSMUSP00000097166
Gene: ENSMUSG00000020230
AA Change: W79*

Domain	Start	End	E-Value	Type
low complexity region	30	43	N/A	INTRINSIC
SH3	45	100	4.22e-15	SMART
Pfam:PrmA	122	253	2.5e-8	PFAM
Pfam:PRMT5	123	427	2.4e-13	PFAM
Pfam:Met_10	127	244	5.1e-8	PFAM
Pfam:MTS	134	223	5.7e-11	PFAM
Pfam:Methyltransf_31	147	294	1.5e-8	PFAM
Pfam:Methyltransf_26	150	224	1.2e-9	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000099572
AA Change: W79*

SMART Domains

Protein: ENSMUSP00000097167
Gene: ENSMUSG00000020230
AA Change: W79*

Domain	Start	End	E-Value	Type
low complexity region	30	43	N/A	INTRINSIC
SH3	45	100	4.22e-15	SMART
Pfam:PrmA	124	253	3.1e-8	PFAM
Pfam:PRMT5	124	451	1.2e-11	PFAM
Pfam:MTS	137	223	3.3e-10	PFAM
Pfam:Methyltransf_31	147	294	1.7e-8	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000128099
AA Change: W79*

SMART Domains

Protein: ENSMUSP00000137707
Gene: ENSMUSG00000020230
AA Change: W79*

Domain	Start	End	E-Value	Type
low complexity region	30	43	N/A	INTRINSIC
SH3	45	100	4.22e-15	SMART
Pfam:PrmA	120	253	1.3e-9	PFAM
Pfam:Met_10	122	235	3.8e-8	PFAM
Pfam:TehB	122	235	6.9e-8	PFAM
Pfam:MTS	133	223	2e-11	PFAM
Pfam:Methyltransf_31	147	243	9.3e-9	PFAM
Pfam:Methyltransf_26	150	224	4.6e-10	PFAM
Pfam:Methyltransf_11	154	238	3.2e-6	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000137857
AA Change: W79*

SMART Domains

Protein: ENSMUSP00000137725
Gene: ENSMUSG00000020230
AA Change: W79*

Domain	Start	End	E-Value	Type
low complexity region	30	43	N/A	INTRINSIC
SH3	45	100	4.22e-15	SMART
Pfam:PrmA	120	253	1.5e-9	PFAM
Pfam:Met_10	129	235	4.2e-7	PFAM
Pfam:MTS	137	223	1.1e-10	PFAM
Pfam:Methyltransf_31	147	243	9.2e-9	PFAM
Pfam:Methyltransf_11	154	237	1.7e-6	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000217726

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (40/40)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele display a hyperplastic response to vascular injury while mutant mouse embryonic fibroblasts show an earlier S phase entry following release of serum starvation. [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
Abca14	T	C	7: 120,283,089	L1158P	probably damaging	Het
Acnat1	A	T	4: 49,451,077	N11K	possibly damaging	Het
Ammecr1l	T	A	18: 31,776,003	I217N	possibly damaging	Het
Ankrd11	G	A	8: 122,908,734	R54*	probably null	Het
Ccdc178	C	T	18: 22,131,414		probably null	Het
Ccdc36	G	T	9: 108,413,006	T133N	possibly damaging	Het
Clcn7	T	C	17: 25,153,140	S425P	probably benign	Het
Cnmd	A	G	14: 79,656,605	V114A	probably damaging	Het
Col13a1	T	C	10: 61,851,162	T651A	unknown	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Cyp3a25	T	C	5: 145,986,968		probably null	Het
Dmrta1	A	T	4: 89,691,616	D271V	probably benign	Het
Efcab3	T	A	11: 105,072,318		probably null	Het
Exo5	T	C	4: 120,921,997	I224V	probably damaging	Het
Fam162b	C	A	10: 51,587,218	A118S	probably damaging	Het
Glb1	A	G	9: 114,454,257	T406A	possibly damaging	Het
Grk3	T	C	5: 112,914,983	N666S	probably benign	Het
Hars2	T	C	18: 36,789,523	F370L	possibly damaging	Het
Ighv8-11	T	G	12: 115,567,603		probably benign	Het
Inpp4b	A	T	8: 81,997,339	D500V	probably benign	Het
Itgb4	A	G	11: 116,006,563	D1534G	possibly damaging	Het
Kcnk2	G	C	1: 189,340,017	T38S	possibly damaging	Het
Kif16b	C	T	2: 142,756,122	V527I	probably benign	Het
Kmt2b	A	G	7: 30,576,708	Y1789H	probably damaging	Het
Lpl	A	C	8: 68,901,243	D412A	possibly damaging	Het
Lrrc27	T	G	7: 139,223,613	L151R	probably damaging	Het
Muc3	T	C	5: 137,154,041		probably benign	Het
Nup205	T	A	6: 35,208,134	Y829*	probably null	Het
Obscn	T	C	11: 59,131,646	R758G	possibly damaging	Het
Olfm4	A	G	14: 80,021,752	Y447C	probably damaging	Het
Olfr1308	T	C	2: 111,960,149	Y308C	probably benign	Het
Pcdhb6	T	C	18: 37,335,169	V381A	probably benign	Het
Skiv2l	T	C	17: 34,840,385	M1029V	probably benign	Het
Stil	A	G	4: 115,016,286	R369G	probably null	Het
Ttc41	T	C	10: 86,724,374	I387T	probably benign	Het
Tubgcp6	A	G	15: 89,102,984	L1262P	probably benign	Het
Vmn2r112	T	A	17: 22,603,115	V258E	probably damaging	Het
Zfp804b	T	C	5: 6,769,445	H1206R	probably damaging	Het

Other mutations in Prmt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01642:Prmt2	APN	10	76222493	missense	probably damaging	1.00
IGL01663:Prmt2	APN	10	76217309	splice site	probably null
IGL02015:Prmt2	APN	10	76226255	nonsense	probably null
IGL03094:Prmt2	APN	10	76210390	splice site	probably benign
R0352:Prmt2	UTSW	10	76208503	missense	possibly damaging	0.89
R0617:Prmt2	UTSW	10	76208683	intron	probably benign
R0831:Prmt2	UTSW	10	76207807	unclassified	probably benign
R0885:Prmt2	UTSW	10	76222565	missense	probably damaging	1.00
R1882:Prmt2	UTSW	10	76222468	missense	probably benign	0.00
R2022:Prmt2	UTSW	10	76225458	nonsense	probably null
R2312:Prmt2	UTSW	10	76226255	nonsense	probably null
R2408:Prmt2	UTSW	10	76208467	missense	probably damaging	0.98
R3753:Prmt2	UTSW	10	76225303	missense	probably benign	0.01
R4707:Prmt2	UTSW	10	76226221	missense	probably damaging	0.96
R4785:Prmt2	UTSW	10	76226221	missense	probably damaging	0.96
R4937:Prmt2	UTSW	10	76221008	missense	probably damaging	1.00
R5072:Prmt2	UTSW	10	76222556	missense	probably damaging	1.00
R5073:Prmt2	UTSW	10	76222556	missense	probably damaging	1.00
R5074:Prmt2	UTSW	10	76222556	missense	probably damaging	1.00
R5851:Prmt2	UTSW	10	76236740	missense	possibly damaging	0.61
R6084:Prmt2	UTSW	10	76210444	missense	probably benign	0.23
R6120:Prmt2	UTSW	10	76209446	missense	possibly damaging	0.51
R6239:Prmt2	UTSW	10	76222591	nonsense	probably null
R6317:Prmt2	UTSW	10	76222517	missense	probably benign	0.15
R6659:Prmt2	UTSW	10	76217374	missense	possibly damaging	0.85
R7174:Prmt2	UTSW	10	76225339	missense	probably benign	0.00
R7421:Prmt2	UTSW	10	76221078	missense	probably benign	0.00
R7485:Prmt2	UTSW	10	76221004	nonsense	probably null
R8326:Prmt2	UTSW	10	76217413	missense	probably benign	0.00
R9490:Prmt2	UTSW	10	76217393	missense	probably damaging	0.98
R9620:Prmt2	UTSW	10	76225379	missense	probably damaging	1.00
R9694:Prmt2	UTSW	10	76225379	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCACCCTGAACACTAGGAG -3'
(R):5'- TGCTCACTGAGGGTCATTGC -3'

Sequencing Primer
(F):5'- TGAACACTAGGAGCAGTCCC -3'
(R):5'- GTCATTGCGATTTGGTCACCAATAG -3'

Posted On

2014-11-11