Mutagenetix > Incidental Mutation

Incidental Mutation 'R7174:Prmt2'

558500

Institutional Source

Beutler Lab

Gene Symbol

Prmt2

Ensembl Gene

ENSMUSG00000020230

Gene Name

protein arginine N-methyltransferase 2

Synonyms

Hrmt1l1

MMRRC Submission

045266-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7174 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76043060-76073699 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 76061173 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 104 (D104E)

Ref Sequence

ENSEMBL: ENSMUSP00000097167 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000020452
AA Change: D104E

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000020452
Gene: ENSMUSG00000020230
AA Change: D104E

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 benign
Transcript: ENSMUST00000099571
AA Change: D104E

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000097166
Gene: ENSMUSG00000020230
AA Change: D104E

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 benign
Transcript: ENSMUST00000099572
AA Change: D104E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000097167
Gene: ENSMUSG00000020230
AA Change: D104E

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 benign
Transcript: ENSMUST00000128099
AA Change: D104E

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000137707
Gene: ENSMUSG00000020230
AA Change: D104E

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 benign
Transcript: ENSMUST00000137857
AA Change: D104E

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000137725
Gene: ENSMUSG00000020230
AA Change: D104E

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

unknown
Transcript: ENSMUST00000217726
AA Change: P103T

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

97% (61/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	C	A	5: 144,981,627 (GRCm39)	A154E	probably benign	Het
Adamts1	C	A	16: 85,596,060 (GRCm39)	A419S	probably benign	Het
Arap2	C	G	5: 62,761,621 (GRCm39)	V1702L	probably benign	Het
Arpc1a	C	T	5: 145,034,087 (GRCm39)	P152S	probably benign	Het
Bbs10	T	A	10: 111,136,628 (GRCm39)	C580*	probably null	Het
Bcam	A	G	7: 19,499,376 (GRCm39)	Y216H	probably damaging	Het
C2cd3	T	C	7: 100,081,405 (GRCm39)	S1016P		Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Ceacam5	T	A	7: 17,491,839 (GRCm39)		probably null	Het
Cfap57	A	G	4: 118,446,264 (GRCm39)	V666A	probably benign	Het
Cntn3	A	G	6: 102,142,305 (GRCm39)	F1021L	probably benign	Het
Cr1l	C	T	1: 194,811,497 (GRCm39)	G119D	probably benign	Het
Fgf10	A	T	13: 118,851,942 (GRCm39)	H8L	probably benign	Het
Fras1	T	A	5: 96,903,436 (GRCm39)		probably null	Het
Frem1	G	T	4: 82,840,493 (GRCm39)	T1811N	probably benign	Het
Fsd1	A	T	17: 56,298,356 (GRCm39)	Q227L	probably benign	Het
Galk2	A	G	2: 125,738,621 (GRCm39)	I138M	probably damaging	Het
Igkv8-30	A	G	6: 70,094,582 (GRCm39)	V7A	possibly damaging	Het
Katnb1	G	A	8: 95,824,069 (GRCm39)	A450T	probably benign	Het
Kif14	A	T	1: 136,448,995 (GRCm39)	E1465V	possibly damaging	Het
Klra3	A	T	6: 130,312,941 (GRCm39)		probably null	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Lepr	A	G	4: 101,607,535 (GRCm39)	N251S	probably benign	Het
Lrp2	T	C	2: 69,263,416 (GRCm39)	M4379V	probably benign	Het
Lrriq1	T	C	10: 103,060,826 (GRCm39)	N92S	probably benign	Het
Map3k13	A	G	16: 21,745,006 (GRCm39)	N855S	probably damaging	Het
Marf1	T	A	16: 13,954,817 (GRCm39)	D900V	probably damaging	Het
Nckap5l	A	T	15: 99,321,884 (GRCm39)	M1087K	probably benign	Het
Nlrp9c	T	C	7: 26,084,722 (GRCm39)	N286D	probably benign	Het
Or12j4	T	C	7: 140,047,076 (GRCm39)	*321Q	probably null	Het
Or13c7d	C	T	4: 43,770,691 (GRCm39)	A107T	not run	Het
Or4k2	T	C	14: 50,424,153 (GRCm39)	I175V	probably benign	Het
Or51ah3	A	T	7: 103,210,598 (GRCm39)	R305*	probably null	Het
Or5g9	C	T	2: 85,552,297 (GRCm39)	P183S	possibly damaging	Het
Or5p72	T	A	7: 108,022,367 (GRCm39)	S196R	probably benign	Het
Pcdhga3	A	G	18: 37,808,980 (GRCm39)	T478A	probably benign	Het
Pdgfrb	T	C	18: 61,199,587 (GRCm39)	I385T	probably benign	Het
Poteg	C	T	8: 27,943,305 (GRCm39)	R192W	probably benign	Het
Rgl2	T	C	17: 34,153,964 (GRCm39)	F457L	possibly damaging	Het
Rlbp1	T	C	7: 79,027,090 (GRCm39)	N190S	possibly damaging	Het
Ryr2	T	C	13: 11,816,063 (GRCm39)	D641G	possibly damaging	Het
Sh3gl1	A	T	17: 56,324,846 (GRCm39)	M303K	probably benign	Het
Slc26a5	A	G	5: 22,018,892 (GRCm39)	V649A	probably damaging	Het
Slco4c1	T	C	1: 96,765,323 (GRCm39)	N376D	possibly damaging	Het
Socs3	A	T	11: 117,858,553 (GRCm39)	Y168*	probably null	Het
Spata31d1d	A	T	13: 59,876,394 (GRCm39)	N380K	possibly damaging	Het
Speer1c	T	C	5: 10,295,237 (GRCm39)	K56E	probably damaging	Het
Ssbp3	A	G	4: 106,894,843 (GRCm39)	N254S	probably benign	Het
Stard10	C	T	7: 100,995,226 (GRCm39)	S326L	probably damaging	Het
Taf2	T	C	15: 54,912,135 (GRCm39)	D524G	possibly damaging	Het
Taf7	A	T	18: 37,776,053 (GRCm39)	S171R	probably damaging	Het
Tchh	C	T	3: 93,353,478 (GRCm39)	R973C	unknown	Het
Tmem67	T	C	4: 12,077,337 (GRCm39)	R172G	possibly damaging	Het
Top2a	C	A	11: 98,914,922 (GRCm39)		probably benign	Het
Ttc8	T	A	12: 98,940,960 (GRCm39)	N323K	possibly damaging	Het
Txnl1	T	C	18: 63,804,667 (GRCm39)	N276D	probably benign	Het
Usp24	T	G	4: 106,219,878 (GRCm39)		probably null	Het
Vmn1r18	A	C	6: 57,366,609 (GRCm39)		probably null	Het
Vmn2r53	A	T	7: 12,315,628 (GRCm39)	H730Q	probably benign	Het
Wnk1	A	C	6: 119,947,939 (GRCm39)	I500M	probably damaging	Het
Zfp335	A	T	2: 164,744,423 (GRCm39)	Y451N	probably damaging	Het
Zfp683	T	A	4: 133,783,064 (GRCm39)	I176N	probably damaging	Het

Other mutations in Prmt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01642:Prmt2	APN	10	76,058,327 (GRCm39)	missense	probably damaging	1.00
IGL01663:Prmt2	APN	10	76,053,143 (GRCm39)	splice site	probably null
IGL02015:Prmt2	APN	10	76,062,089 (GRCm39)	nonsense	probably null
IGL03094:Prmt2	APN	10	76,046,224 (GRCm39)	splice site	probably benign
R0352:Prmt2	UTSW	10	76,044,337 (GRCm39)	missense	possibly damaging	0.89
R0617:Prmt2	UTSW	10	76,044,517 (GRCm39)	intron	probably benign
R0831:Prmt2	UTSW	10	76,043,641 (GRCm39)	unclassified	probably benign
R0885:Prmt2	UTSW	10	76,058,399 (GRCm39)	missense	probably damaging	1.00
R1882:Prmt2	UTSW	10	76,058,302 (GRCm39)	missense	probably benign	0.00
R2022:Prmt2	UTSW	10	76,061,292 (GRCm39)	nonsense	probably null
R2312:Prmt2	UTSW	10	76,062,089 (GRCm39)	nonsense	probably null
R2401:Prmt2	UTSW	10	76,061,249 (GRCm39)	nonsense	probably null
R2408:Prmt2	UTSW	10	76,044,301 (GRCm39)	missense	probably damaging	0.98
R3753:Prmt2	UTSW	10	76,061,137 (GRCm39)	missense	probably benign	0.01
R4707:Prmt2	UTSW	10	76,062,055 (GRCm39)	missense	probably damaging	0.96
R4785:Prmt2	UTSW	10	76,062,055 (GRCm39)	missense	probably damaging	0.96
R4937:Prmt2	UTSW	10	76,056,842 (GRCm39)	missense	probably damaging	1.00
R5072:Prmt2	UTSW	10	76,058,390 (GRCm39)	missense	probably damaging	1.00
R5073:Prmt2	UTSW	10	76,058,390 (GRCm39)	missense	probably damaging	1.00
R5074:Prmt2	UTSW	10	76,058,390 (GRCm39)	missense	probably damaging	1.00
R5851:Prmt2	UTSW	10	76,072,574 (GRCm39)	missense	possibly damaging	0.61
R6084:Prmt2	UTSW	10	76,046,278 (GRCm39)	missense	probably benign	0.23
R6120:Prmt2	UTSW	10	76,045,280 (GRCm39)	missense	possibly damaging	0.51
R6239:Prmt2	UTSW	10	76,058,425 (GRCm39)	nonsense	probably null
R6317:Prmt2	UTSW	10	76,058,351 (GRCm39)	missense	probably benign	0.15
R6659:Prmt2	UTSW	10	76,053,208 (GRCm39)	missense	possibly damaging	0.85
R7421:Prmt2	UTSW	10	76,056,912 (GRCm39)	missense	probably benign	0.00
R7485:Prmt2	UTSW	10	76,056,838 (GRCm39)	nonsense	probably null
R8326:Prmt2	UTSW	10	76,053,247 (GRCm39)	missense	probably benign	0.00
R9490:Prmt2	UTSW	10	76,053,227 (GRCm39)	missense	probably damaging	0.98
R9620:Prmt2	UTSW	10	76,061,213 (GRCm39)	missense	probably damaging	1.00
R9694:Prmt2	UTSW	10	76,061,213 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATCCTACTAAGACCCAGGTGC -3'
(R):5'- ACCCAGTTATTGGTGAGATGC -3'

Sequencing Primer
(F):5'- TACTAAGACCCAGGTGCCTGTG -3'
(R):5'- ATTGGTGAGATGCCAGTCGAC -3'

Posted On

2019-06-26