Mutagenetix > Incidental Mutation

Incidental Mutation 'R8313:Prmt8'

641494

Institutional Source

Beutler Lab

Gene Symbol

Prmt8

Ensembl Gene

ENSMUSG00000030350

Gene Name

protein arginine N-methyltransferase 8

Synonyms

Hrmt1l3, Hrmt1l4

MMRRC Submission

067797-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8313 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127665972-127746430 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127666813 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 387 (V387A)

Ref Sequence

ENSEMBL: ENSMUSP00000032500 (fasta)

Gene Model

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

AlphaFold

Q6PAK3

Predicted Effect

probably benign
Transcript: ENSMUST00000032500
AA Change: V387A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000032500
Gene: ENSMUSG00000030350
AA Change: V387A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 99.0%

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkal2	G	T	12: 30,934,850 (GRCm39)	G23V	probably damaging	Het
Atl2	C	T	17: 80,160,033 (GRCm39)	W518*	probably null	Het
Atp13a2	G	A	4: 140,730,046 (GRCm39)	V646I	probably benign	Het
Bcar1	A	T	8: 112,440,270 (GRCm39)	F575I	probably benign	Het
Bpifa6	T	A	2: 153,831,178 (GRCm39)	L248*	probably null	Het
Ccdc38	T	C	10: 93,399,111 (GRCm39)	L193P	probably damaging	Het
Ch25h	A	C	19: 34,452,138 (GRCm39)	I130S	probably benign	Het
Chaf1a	C	A	17: 56,351,109 (GRCm39)	Q30K	unknown	Het
Dab2ip	T	C	2: 35,617,440 (GRCm39)	L1106S	probably damaging	Het
Dnah3	A	G	7: 119,550,375 (GRCm39)	Y3315H	probably benign	Het
Dnah7b	G	A	1: 46,214,456 (GRCm39)	V1074I	possibly damaging	Het
Efemp1	A	G	11: 28,860,691 (GRCm39)	Q200R	probably benign	Het
Eif1ad3	A	T	12: 87,843,764 (GRCm39)	D137V	unknown	Het
Epx	C	T	11: 87,763,557 (GRCm39)	R221Q	possibly damaging	Het
Exosc7	T	C	9: 122,956,942 (GRCm39)	L109P	probably damaging	Het
Fbxo22	T	A	9: 55,128,344 (GRCm39)	F222I	probably damaging	Het
Fcgbp	A	G	7: 27,785,769 (GRCm39)	D402G	probably benign	Het
Foxr1	A	G	9: 44,347,351 (GRCm39)	V62A	probably damaging	Het
Gm8267	A	T	14: 44,961,515 (GRCm39)	H59Q	probably damaging	Het
Gnptab	T	A	10: 88,275,071 (GRCm39)	Y1090N	probably damaging	Het
Gpr20	A	G	15: 73,568,161 (GRCm39)	F76S	probably damaging	Het
Gpr33	A	G	12: 52,070,907 (GRCm39)	V44A	probably benign	Het
Grin3a	G	A	4: 49,665,599 (GRCm39)	T1012I	probably benign	Het
Itga1	T	A	13: 115,103,120 (GRCm39)	T1104S	probably benign	Het
Kidins220	T	A	12: 25,054,110 (GRCm39)	Y537N	probably damaging	Het
Lama1	A	G	17: 68,057,515 (GRCm39)	T530A		Het
Lysmd2	A	T	9: 75,533,040 (GRCm39)		probably benign	Het
Mdk	T	C	2: 91,761,178 (GRCm39)	K128E	unknown	Het
Mphosph8	AC	A	14: 56,916,062 (GRCm39)		probably null	Het
Muc16	A	C	9: 18,436,443 (GRCm39)	L7915W	possibly damaging	Het
Muc4	A	T	16: 32,753,423 (GRCm38)	T1100S	probably benign	Het
Mxra7	T	C	11: 116,695,376 (GRCm39)	Y176C	probably damaging	Het
Myh15	C	A	16: 48,940,381 (GRCm39)	T777N	probably damaging	Het
Myo18b	A	G	5: 113,023,045 (GRCm39)	S116P	unknown	Het
Noc3l	A	G	19: 38,784,254 (GRCm39)	L543P	probably damaging	Het
Or5h24	C	T	16: 58,919,004 (GRCm39)	G117D	unknown	Het
Or7a39	C	T	10: 78,715,170 (GRCm39)	P55S	probably benign	Het
Or8c10	T	A	9: 38,279,346 (GRCm39)	V168E	probably damaging	Het
Pkm	G	T	9: 59,575,902 (GRCm39)	R106L	probably benign	Het
Prkab2	G	T	3: 97,570,911 (GRCm39)	V112F	probably benign	Het
Prkaca	A	T	8: 84,717,151 (GRCm39)	N172Y	probably damaging	Het
Rad17	T	C	13: 100,761,074 (GRCm39)	T485A	probably benign	Het
Rita1	G	T	5: 120,747,716 (GRCm39)	T194K	possibly damaging	Het
Rogdi	C	A	16: 4,831,313 (GRCm39)		probably benign	Het
Senp5	T	C	16: 31,808,117 (GRCm39)	D379G	probably benign	Het
Slc4a4	A	G	5: 89,194,122 (GRCm39)	K201E	possibly damaging	Het
Slc9a4	C	T	1: 40,619,520 (GRCm39)		probably benign	Het
Tmem175	T	A	5: 108,791,075 (GRCm39)	S208R	probably benign	Het
Tmem237	A	T	1: 59,147,237 (GRCm39)	Y299N	probably damaging	Het
Tnrc6a	T	A	7: 122,769,936 (GRCm39)	N575K	possibly damaging	Het
Trak2	A	T	1: 58,960,306 (GRCm39)	C232*	probably null	Het
Ubr3	A	G	2: 69,775,478 (GRCm39)	H589R	probably damaging	Het
Vcp	T	C	4: 42,988,728 (GRCm39)	T249A	possibly damaging	Het
Vmn1r208	G	C	13: 22,956,947 (GRCm39)	I183M	probably benign	Het
Vmn1r231	C	T	17: 21,110,289 (GRCm39)	V209I	probably benign	Het
Vmn1r80	T	C	7: 11,926,994 (GRCm39)	F35L	probably benign	Het
Vmn2r58	A	T	7: 41,521,952 (GRCm39)	I48N	probably benign	Het
Vstm2a	T	A	11: 16,231,898 (GRCm39)	V231E	probably damaging	Het
Zfp108	A	C	7: 23,960,087 (GRCm39)	Y226S	possibly damaging	Het
Zfp445	A	T	9: 122,682,695 (GRCm39)	N415K	possibly damaging	Het
Zfp938	T	G	10: 82,061,422 (GRCm39)	R399S	possibly damaging	Het
Zmym4	G	A	4: 126,804,762 (GRCm39)	H464Y	probably benign	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
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
R8483:Prmt8	UTSW	6	127,680,976 (GRCm39)	splice site	probably null
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'- ATGCTTCCATCCTCAGAGCC -3'
(R):5'- AGAACTCCCGTGGCTACCTATC -3'

Sequencing Primer
(F):5'- CCAGCCATAGCACGGAAGG -3'
(R):5'- GTGGCTACCTATCCCCATGG -3'

Posted On

2020-07-28