Mutagenetix > Incidental Mutation

Incidental Mutation 'R7659:Prmt7'

591443

Institutional Source

Beutler Lab

Gene Symbol

Prmt7

Ensembl Gene

ENSMUSG00000060098

Gene Name

protein arginine N-methyltransferase 7

Synonyms

4933402B05Rik

MMRRC Submission

045734-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.897) question?

Stock #

R7659 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106937686-106978326 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 106963918 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 271 (A271S)

Ref Sequence

ENSEMBL: ENSMUSP00000071521 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071592] [ENSMUST00000109297]

AlphaFold

Q922X9

PDB Structure

Crystal structure of mouse protein arginine methyltransferase 7 in complex with SAH [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000071592
AA Change: A271S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000071521
Gene: ENSMUSG00000060098
AA Change: A271S

Domain	Start	End	E-Value	Type
Pfam:PrmA	53	148	1.6e-7	PFAM
internal_repeat_1	382	652	1.71e-8	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000109297

SMART Domains

Protein: ENSMUSP00000104920
Gene: ENSMUSG00000060098

Domain	Start	End	E-Value	Type
Pfam:PrmA	51	148	1.5e-8	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000119992
Gene: ENSMUSG00000060098
AA Change: A254S

Domain	Start	End	E-Value	Type
Pfam:PrmA	37	132	3.2e-8	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (66/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Arginine methylation is an apparently irreversible protein modification catalyzed by arginine methyltransferases, such as PMT7, using S-adenosylmethionine (AdoMet) as the methyl donor. Arginine methylation is implicated in signal transduction, RNA transport, and RNA splicing (Miranda et al., 2004 [PubMed 15044439]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh2	T	C	5: 121,707,023 (GRCm39)	E498G	probably damaging	Het
Ankar	T	C	1: 72,729,294 (GRCm39)	T284A	possibly damaging	Het
Arid5b	C	T	10: 67,934,417 (GRCm39)	G495E	probably benign	Het
Armh1	C	A	4: 117,070,938 (GRCm39)	A396S	probably benign	Het
Atp6v0a4	A	G	6: 38,048,907 (GRCm39)	I452T	probably damaging	Het
Azgp1	G	T	5: 137,985,775 (GRCm39)	A133S	probably damaging	Het
Bmp2k	T	C	5: 97,222,578 (GRCm39)	S667P	unknown	Het
C1qtnf9	T	A	14: 61,009,753 (GRCm39)	I3N	possibly damaging	Het
C530025M09Rik	T	G	2: 149,672,539 (GRCm39)	T199P	unknown	Het
Casc3	C	G	11: 98,700,699 (GRCm39)	R4G	unknown	Het
Cass4	A	G	2: 172,268,947 (GRCm39)	D343G	probably damaging	Het
Cenatac	T	C	9: 44,324,790 (GRCm39)	E164G	probably damaging	Het
Col6a3	T	A	1: 90,709,467 (GRCm39)	T2517S	unknown	Het
Dbr1	A	G	9: 99,458,663 (GRCm39)	T78A	probably damaging	Het
Dnah9	A	G	11: 65,880,606 (GRCm39)	F2664L	probably damaging	Het
Eif2ak1	T	C	5: 143,826,280 (GRCm39)	I431T	probably damaging	Het
Got1	A	G	19: 43,493,078 (GRCm39)	V281A	probably benign	Het
Gpld1	A	C	13: 25,163,964 (GRCm39)	R555S	probably benign	Het
Gpr149	T	C	3: 62,511,256 (GRCm39)	R248G	probably benign	Het
Hps3	G	A	3: 20,076,978 (GRCm39)	R395*	probably null	Het
Inpp5b	T	C	4: 124,689,219 (GRCm39)	L833P	probably damaging	Het
Itgb4	A	T	11: 115,870,557 (GRCm39)	S129C	probably damaging	Het
Kif1a	T	A	1: 92,974,542 (GRCm39)		probably benign	Het
Lgr4	T	A	2: 109,827,111 (GRCm39)	V205E	probably damaging	Het
Mbd3	T	C	10: 80,231,019 (GRCm39)	N96S	probably damaging	Het
Mcam	T	A	9: 44,048,067 (GRCm39)	C136S	unknown	Het
Mki67	A	G	7: 135,299,155 (GRCm39)	S1960P	probably damaging	Het
Mogs	G	A	6: 83,093,806 (GRCm39)		probably null	Het
Muc6	T	C	7: 141,216,973 (GRCm39)	T2567A	possibly damaging	Het
Mug1	C	A	6: 121,838,179 (GRCm39)	H470N	possibly damaging	Het
Nae1	A	G	8: 105,242,796 (GRCm39)	V432A	probably benign	Het
Nav3	T	G	10: 109,602,851 (GRCm39)	T1233P	probably benign	Het
Nme9	G	A	9: 99,352,910 (GRCm39)	A287T	possibly damaging	Het
Nmrk1	A	G	19: 18,613,499 (GRCm39)	I8V	probably benign	Het
Noa1	T	C	5: 77,457,237 (GRCm39)	N223D	not run	Het
Nr4a3	T	C	4: 48,051,269 (GRCm39)	Y8H	probably damaging	Het
Or12e1	T	A	2: 87,022,709 (GRCm39)	V226E	possibly damaging	Het
Or1j15	T	A	2: 36,458,637 (GRCm39)	V9E	possibly damaging	Het
Or2b4	A	T	17: 38,116,054 (GRCm39)	Q6L	probably benign	Het
Or4n4b	T	C	14: 50,536,698 (GRCm39)	I23V	probably benign	Het
Or4p20	T	C	2: 88,254,270 (GRCm39)	Y33C	probably damaging	Het
Or52h2	T	C	7: 103,839,394 (GRCm39)	S7G	probably benign	Het
Or7g29	C	T	9: 19,286,854 (GRCm39)	A108T	probably benign	Het
Or8c9	T	C	9: 38,241,012 (GRCm39)	V40A	possibly damaging	Het
Otoa	T	A	7: 120,733,267 (GRCm39)	H711Q	probably benign	Het
Otogl	T	A	10: 107,612,981 (GRCm39)	E2048D	probably benign	Het
Paip1	C	T	13: 119,587,306 (GRCm39)	T390I	possibly damaging	Het
Pcdha3	A	G	18: 37,081,219 (GRCm39)	T654A	probably benign	Het
Pigg	G	A	5: 108,486,485 (GRCm39)	V713I	probably benign	Het
Ppt1	T	A	4: 122,730,126 (GRCm39)	H26Q	probably benign	Het
Prim1	T	C	10: 127,862,458 (GRCm39)		probably null	Het
Ptprd	T	C	4: 76,047,153 (GRCm39)	D124G	probably benign	Het
Rad54l2	T	C	9: 106,590,777 (GRCm39)	K450E	probably benign	Het
Rasgrp2	G	T	19: 6,451,857 (GRCm39)	V13L	probably damaging	Het
Sapcd2	A	G	2: 25,265,978 (GRCm39)		probably null	Het
Siglecf	A	G	7: 43,001,194 (GRCm39)	Y54C	probably damaging	Het
Stk31	T	A	6: 49,400,340 (GRCm39)	N388K	probably benign	Het
Timm23	A	C	14: 31,920,935 (GRCm39)	Y52*	probably null	Het
Tm9sf1	A	T	14: 55,873,792 (GRCm39)	F569I	probably damaging	Het
Tmprss9	C	A	10: 80,728,843 (GRCm39)	A592E	probably damaging	Het
Trim30d	A	T	7: 104,121,554 (GRCm39)	V397E	probably benign	Het
Tshz1	A	T	18: 84,034,200 (GRCm39)	N69K	probably damaging	Het
Upk2	A	C	9: 44,364,808 (GRCm39)	S130R	probably damaging	Het
Vmn1r80	A	G	7: 11,926,977 (GRCm39)	Y29C	probably damaging	Het
Vmn2r96	T	C	17: 18,793,749 (GRCm39)	I31T	probably benign	Het
Zfp975	T	C	7: 42,311,848 (GRCm39)	Q255R	probably benign	Het

Other mutations in Prmt7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01080:Prmt7	APN	8	106,963,846 (GRCm39)	splice site	probably benign
IGL01565:Prmt7	APN	8	106,977,041 (GRCm39)	missense	probably damaging	0.97
IGL02245:Prmt7	APN	8	106,963,937 (GRCm39)	missense	probably benign	0.10
R0104:Prmt7	UTSW	8	106,963,982 (GRCm39)	missense	probably damaging	0.99
R0255:Prmt7	UTSW	8	106,953,839 (GRCm39)	splice site	probably benign
R1432:Prmt7	UTSW	8	106,963,916 (GRCm39)	nonsense	probably null
R1551:Prmt7	UTSW	8	106,964,014 (GRCm39)	missense	probably benign
R1848:Prmt7	UTSW	8	106,963,640 (GRCm39)	missense	probably benign
R2117:Prmt7	UTSW	8	106,953,930 (GRCm39)	missense	probably damaging	0.96
R3784:Prmt7	UTSW	8	106,968,768 (GRCm39)	missense	probably benign	0.01
R4599:Prmt7	UTSW	8	106,976,961 (GRCm39)	missense	possibly damaging	0.80
R4940:Prmt7	UTSW	8	106,963,910 (GRCm39)	missense	probably benign	0.01
R4983:Prmt7	UTSW	8	106,976,995 (GRCm39)	missense	probably damaging	1.00
R5285:Prmt7	UTSW	8	106,974,991 (GRCm39)	missense	probably benign	0.15
R6015:Prmt7	UTSW	8	106,961,640 (GRCm39)	intron	probably benign
R6520:Prmt7	UTSW	8	106,961,516 (GRCm39)	missense	probably damaging	1.00
R7097:Prmt7	UTSW	8	106,961,732 (GRCm39)	missense	unknown
R7122:Prmt7	UTSW	8	106,961,732 (GRCm39)	missense	unknown
R7233:Prmt7	UTSW	8	106,946,642 (GRCm39)	missense	probably damaging	0.99
R7538:Prmt7	UTSW	8	106,964,018 (GRCm39)	missense	probably benign	0.02
R7577:Prmt7	UTSW	8	106,968,835 (GRCm39)	missense	probably damaging	1.00
R7858:Prmt7	UTSW	8	106,971,320 (GRCm39)	missense	possibly damaging	0.47
R8991:Prmt7	UTSW	8	106,943,874 (GRCm39)	critical splice acceptor site	probably null
R9041:Prmt7	UTSW	8	106,963,460 (GRCm39)	missense	possibly damaging	0.87
R9188:Prmt7	UTSW	8	106,961,486 (GRCm39)	missense	probably damaging	1.00
R9338:Prmt7	UTSW	8	106,961,665 (GRCm39)	missense	unknown
R9406:Prmt7	UTSW	8	106,970,435 (GRCm39)	missense	probably damaging	1.00
R9517:Prmt7	UTSW	8	106,953,930 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AAACCTAGCTGAGTCCTTTCCAC -3'
(R):5'- CCCAAAAGACAATTTCTTCTTTGCC -3'

Sequencing Primer
(F):5'- AGCTGAGTCCTTTCCACATCAG -3'
(R):5'- GCCTTTGACTGATACAGTGATCTAG -3'

Posted On

2019-11-12