Mutagenetix > Incidental Mutation

Incidental Mutation 'R8483:Prmt8'

668214

Institutional Source

Beutler Lab

Gene Symbol

Prmt8

Ensembl Gene

ENSMUSG00000030350

Gene Name

protein arginine N-methyltransferase 8

Synonyms

Hrmt1l3, Hrmt1l4

MMRRC Submission

067927-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8483 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127665972-127746430 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 127680976 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000032500 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032500]

AlphaFold

Q6PAK3

Predicted Effect

probably null
Transcript: ENSMUST00000032500

SMART Domains

Protein: ENSMUSP00000032500
Gene: ENSMUSG00000030350

Domain	Start	End	E-Value	Type
low complexity region	26	44	N/A	INTRINSIC
Pfam:PRMT5	80	368	4.5e-7	PFAM
Pfam:PrmA	102	200	2e-10	PFAM
Pfam:Methyltransf_31	110	274	7.3e-9	PFAM
Pfam:Methyltransf_18	111	215	9.9e-8	PFAM
Pfam:Methyltransf_11	116	215	6.2e-8	PFAM

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (54/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Arginine methylation is a widespread posttranslational modification mediated by arginine methyltransferases, such as PRMT8. Arginine methylation is involved in a number of cellular processes, including DNA repair, RNA transcription, signal transduction, protein compartmentalization, and possibly protein translation (Lee et al., 2005 [PubMed 16051612]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knockout allele exhibit abnormal Purkinje cell dendrite morphology, hyperactivity, limb grasping and gait abnormalities, and show reduced levels of acetylcholine and choline along with increased phosphatidylcholine levels in the cerebellum. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ang6	A	G	14: 44,239,285 (GRCm39)	*148Q	probably null	Het
Ankrd28	A	T	14: 31,457,048 (GRCm39)		probably null	Het
Ark2c	G	A	18: 77,556,034 (GRCm39)	A174V	probably benign	Het
Aurkc	T	A	7: 6,999,664 (GRCm39)	L57*	probably null	Het
Brca1	T	C	11: 101,416,802 (GRCm39)	D444G	probably damaging	Het
Cd200l1	T	A	16: 45,240,235 (GRCm39)	I134F	possibly damaging	Het
Cdhr4	T	C	9: 107,872,198 (GRCm39)	V204A	probably damaging	Het
Chd7	A	G	4: 8,822,412 (GRCm39)	D835G	possibly damaging	Het
Cux1	C	A	5: 136,303,944 (GRCm39)	A1328S	possibly damaging	Het
Cwc27	G	T	13: 104,940,772 (GRCm39)	P196T	probably benign	Het
Cwc27	C	A	13: 104,940,776 (GRCm39)	L194F	possibly damaging	Het
Cyp39a1	A	G	17: 43,993,898 (GRCm39)	D186G	probably benign	Het
Dnah3	T	C	7: 119,536,253 (GRCm39)	I3677V	probably benign	Het
Dnmt3b	A	G	2: 153,516,306 (GRCm39)	D477G	probably damaging	Het
Drc1	A	T	5: 30,507,785 (GRCm39)	Y269F	probably benign	Het
Esco2	T	C	14: 66,069,118 (GRCm39)	H64R	probably benign	Het
Gcnt3	A	T	9: 69,941,959 (GRCm39)	V203E	probably damaging	Het
Gpam	A	C	19: 55,077,374 (GRCm39)	V139G	probably damaging	Het
Gsta3	G	A	1: 21,333,063 (GRCm39)	S104N	probably damaging	Het
Hsd17b13	C	T	5: 104,125,049 (GRCm39)	G45R	probably damaging	Het
Ighe	T	C	12: 113,235,808 (GRCm39)	M173V		Het
Ipo5	A	G	14: 121,183,560 (GRCm39)	E1046G	probably benign	Het
Kank4	T	A	4: 98,659,615 (GRCm39)	Q821L	probably damaging	Het
Kat6b	G	T	14: 21,719,461 (GRCm39)	S1271I	probably damaging	Het
Klhl1	A	G	14: 96,619,370 (GRCm39)	S176P	probably benign	Het
Lbhd2	G	A	12: 111,378,190 (GRCm39)	D86N	probably damaging	Het
Lrp1	G	A	10: 127,394,519 (GRCm39)	R2565C	probably damaging	Het
Lrrc55	A	T	2: 85,022,295 (GRCm39)	C299S	probably benign	Het
Mtres1	T	C	10: 43,408,915 (GRCm39)	Y76C	probably benign	Het
Nprl3	T	A	11: 32,213,083 (GRCm39)	S44C	probably damaging	Het
Nucks1	A	G	1: 131,855,829 (GRCm39)	H86R	possibly damaging	Het
Or14j3	A	G	17: 37,900,866 (GRCm39)	V126A	possibly damaging	Het
Or4s2	A	G	2: 88,473,678 (GRCm39)	D189G	probably benign	Het
Or6c219	T	A	10: 129,780,998 (GRCm39)	H311L	probably benign	Het
Ovgp1	T	A	3: 105,894,311 (GRCm39)		probably benign	Het
Oxa1l	G	A	14: 54,606,001 (GRCm39)		probably null	Het
Patj	C	A	4: 98,312,539 (GRCm39)	H292Q	probably damaging	Het
Pcdha9	A	G	18: 37,131,636 (GRCm39)	N235S	probably benign	Het
Pcdhb12	A	T	18: 37,570,590 (GRCm39)	T579S	possibly damaging	Het
Pde3b	A	G	7: 114,118,803 (GRCm39)	I647M	probably benign	Het
Pdp1	T	C	4: 11,961,982 (GRCm39)	R110G	probably benign	Het
Prb1a	T	G	6: 132,185,398 (GRCm39)	R78S	unknown	Het
Semp2l2a	T	A	8: 13,888,229 (GRCm39)		probably benign	Het
Slc35f2	T	A	9: 53,716,985 (GRCm39)	Y249*	probably null	Het
Smok2b	A	C	17: 13,453,908 (GRCm39)	M23L	probably benign	Het
Sra1	A	G	18: 36,800,879 (GRCm39)	I153T	probably benign	Het
Stk38l	T	A	6: 146,660,017 (GRCm39)	H16Q	possibly damaging	Het
Tent5c	T	A	3: 100,379,784 (GRCm39)	H324L	probably damaging	Het
Unc80	T	C	1: 66,732,869 (GRCm39)	S3073P	possibly damaging	Het
Usp24	T	C	4: 106,230,953 (GRCm39)	I844T	probably damaging	Het
V1ra8	A	T	6: 90,179,916 (GRCm39)	I40F	probably benign	Het
Vmn2r88	T	A	14: 51,650,530 (GRCm39)	M81K	possibly damaging	Het
Vps8	T	C	16: 21,393,763 (GRCm39)	I1182T	probably damaging	Het
Wdr54	A	G	6: 83,130,591 (GRCm39)	V181A	probably benign	Het
Zbed4	A	G	15: 88,665,990 (GRCm39)	Y686C	probably damaging	Het
Zfyve28	T	C	5: 34,393,480 (GRCm39)	N62S	possibly damaging	Het
Zic1	T	C	9: 91,246,424 (GRCm39)	Y216C	probably damaging	Het

Other mutations in Prmt8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02122:Prmt8	APN	6	127,667,680 (GRCm39)	missense	probably benign	0.17
IGL02178:Prmt8	APN	6	127,674,770 (GRCm39)	missense	probably benign	0.06
IGL02526:Prmt8	APN	6	127,688,786 (GRCm39)	missense	probably damaging	0.96
IGL03010:Prmt8	APN	6	127,706,498 (GRCm39)	missense	probably benign	0.09
IGL03037:Prmt8	APN	6	127,680,940 (GRCm39)	missense	possibly damaging	0.75
R0096:Prmt8	UTSW	6	127,709,590 (GRCm39)	splice site	probably benign
R0254:Prmt8	UTSW	6	127,688,771 (GRCm39)	missense	probably damaging	1.00
R0355:Prmt8	UTSW	6	127,688,837 (GRCm39)	nonsense	probably null
R0925:Prmt8	UTSW	6	127,674,776 (GRCm39)	missense	probably benign	0.00
R1606:Prmt8	UTSW	6	127,666,799 (GRCm39)	nonsense	probably null
R1716:Prmt8	UTSW	6	127,703,486 (GRCm39)	critical splice donor site	probably null
R3789:Prmt8	UTSW	6	127,688,110 (GRCm39)	missense	probably damaging	1.00
R3790:Prmt8	UTSW	6	127,688,110 (GRCm39)	missense	probably damaging	1.00
R3958:Prmt8	UTSW	6	127,709,707 (GRCm39)	missense	probably benign	0.00
R5022:Prmt8	UTSW	6	127,688,126 (GRCm39)	missense	possibly damaging	0.92
R5143:Prmt8	UTSW	6	127,709,677 (GRCm39)	missense	probably benign
R5635:Prmt8	UTSW	6	127,745,692 (GRCm39)	missense	probably damaging	1.00
R5816:Prmt8	UTSW	6	127,674,701 (GRCm39)	missense	probably benign	0.09
R5959:Prmt8	UTSW	6	127,706,381 (GRCm39)	missense	probably damaging	1.00
R6267:Prmt8	UTSW	6	127,688,767 (GRCm39)	missense	probably damaging	0.99
R6296:Prmt8	UTSW	6	127,688,767 (GRCm39)	missense	probably damaging	0.99
R6450:Prmt8	UTSW	6	127,709,606 (GRCm39)	missense	possibly damaging	0.71
R6603:Prmt8	UTSW	6	127,706,376 (GRCm39)	missense	probably benign	0.00
R7208:Prmt8	UTSW	6	127,666,792 (GRCm39)	missense	possibly damaging	0.81
R7629:Prmt8	UTSW	6	127,666,846 (GRCm39)	nonsense	probably null
R7719:Prmt8	UTSW	6	127,706,466 (GRCm39)	missense	probably damaging	0.97
R8313:Prmt8	UTSW	6	127,666,813 (GRCm39)	missense	probably benign
R8346:Prmt8	UTSW	6	127,688,810 (GRCm39)	missense	probably damaging	1.00
R8404:Prmt8	UTSW	6	127,666,825 (GRCm39)	missense	possibly damaging	0.93
R8843:Prmt8	UTSW	6	127,706,462 (GRCm39)	missense	probably damaging	0.99
X0020:Prmt8	UTSW	6	127,674,734 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACAGCTAGGCCCTTAGCATAC -3'
(R):5'- CTAGAGAACTTCTTGGGGAACG -3'

Sequencing Primer
(F):5'- TAGGCCCTTAGCATACCCAGG -3'
(R):5'- CTCTGCTGATCGAACAGAACGG -3'

Posted On

2021-04-29