Mutagenetix > Incidental Mutations

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

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8313 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127689011-127769472 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127689850 bp

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]

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
Atl2	C	T	17: 79,852,604	W518*	probably null	Het
Atp13a2	G	A	4: 141,002,735	V646I	probably benign	Het
Bcar1	A	T	8: 111,713,638	F575I	probably benign	Het
Bpifa6	T	A	2: 153,989,258	L248*	probably null	Het
Ccdc38	T	C	10: 93,563,249	L193P	probably damaging	Het
Ch25h	A	C	19: 34,474,738	I130S	probably benign	Het
Chaf1a	C	A	17: 56,044,109	Q30K	unknown	Het
Dab2ip	T	C	2: 35,727,428	L1106S	probably damaging	Het
Dnah3	A	G	7: 119,951,152	Y3315H	probably benign	Het
Dnah7b	G	A	1: 46,175,296	V1074I	possibly damaging	Het
Efemp1	A	G	11: 28,910,691	Q200R	probably benign	Het
Epx	C	T	11: 87,872,731	R221Q	possibly damaging	Het
Exosc7	T	C	9: 123,127,877	L109P	probably damaging	Het
Fam150b	G	T	12: 30,884,851	G23V	probably damaging	Het
Fbxo22	T	A	9: 55,221,060	F222I	probably damaging	Het
Fcgbp	A	G	7: 28,086,344	D402G	probably benign	Het
Foxr1	A	G	9: 44,436,054	V62A	probably damaging	Het
Gm2016	A	T	12: 87,876,994	D137V	unknown	Het
Gm8267	A	T	14: 44,724,058	H59Q	probably damaging	Het
Gnptab	T	A	10: 88,439,209	Y1090N	probably damaging	Het
Gpr20	A	G	15: 73,696,312	F76S	probably damaging	Het
Gpr33	A	G	12: 52,024,124	V44A	probably benign	Het
Grin3a	G	A	4: 49,665,599	T1012I	probably benign	Het
Itga1	T	A	13: 114,966,584	T1104S	probably benign	Het
Kidins220	T	A	12: 25,004,111	Y537N	probably damaging	Het
Lama1	A	G	17: 67,750,520	T530A		Het
Lysmd2	A	T	9: 75,625,758		probably benign	Het
Mdk	T	C	2: 91,930,833	K128E	unknown	Het
Mphosph8	AC	A	14: 56,678,605		probably null	Het
Muc16	A	C	9: 18,525,147	L7915W	possibly damaging	Het
Muc4	A	T	16: 32,753,423	T1100S	probably benign	Het
Mxra7	T	C	11: 116,804,550	Y176C	probably damaging	Het
Myh15	C	A	16: 49,120,018	T777N	probably damaging	Het
Myo18b	A	G	5: 112,875,179	S116P	unknown	Het
Noc3l	A	G	19: 38,795,810	L543P	probably damaging	Het
Olfr1355	C	T	10: 78,879,336	P55S	probably benign	Het
Olfr192	C	T	16: 59,098,641	G117D	unknown	Het
Olfr250	T	A	9: 38,368,050	V168E	probably damaging	Het
Pkm	G	T	9: 59,668,619	R106L	probably benign	Het
Prkab2	G	T	3: 97,663,595	V112F	probably benign	Het
Prkaca	A	T	8: 83,990,522	N172Y	probably damaging	Het
Rad17	T	C	13: 100,624,566	T485A	probably benign	Het
Rita1	G	T	5: 120,609,651	T194K	possibly damaging	Het
Rogdi	C	A	16: 5,013,449		probably benign	Het
Senp5	T	C	16: 31,989,299	D379G	probably benign	Het
Slc4a4	A	G	5: 89,046,263	K201E	possibly damaging	Het
Slc9a4	C	T	1: 40,580,360		probably benign	Het
Tmem175	T	A	5: 108,643,209	S208R	probably benign	Het
Tmem237	A	T	1: 59,108,078	Y299N	probably damaging	Het
Tnrc6a	T	A	7: 123,170,713	N575K	possibly damaging	Het
Trak2	A	T	1: 58,921,147	C232*	probably null	Het
Ubr3	A	G	2: 69,945,134	H589R	probably damaging	Het
Vcp	T	C	4: 42,988,728	T249A	possibly damaging	Het
Vmn1r208	G	C	13: 22,772,777	I183M	probably benign	Het
Vmn1r231	C	T	17: 20,890,027	V209I	probably benign	Het
Vmn1r80	T	C	7: 12,193,067	F35L	probably benign	Het
Vmn2r58	A	T	7: 41,872,528	I48N	probably benign	Het
Vstm2a	T	A	11: 16,281,898	V231E	probably damaging	Het
Zfp108	A	C	7: 24,260,662	Y226S	possibly damaging	Het
Zfp445	A	T	9: 122,853,630	N415K	possibly damaging	Het
Zfp938	T	G	10: 82,225,588	R399S	possibly damaging	Het
Zmym4	G	A	4: 126,910,969	H464Y	probably benign	Het

Other mutations in Prmt8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02122:Prmt8	APN	6	127690717	missense	probably benign	0.17
IGL02178:Prmt8	APN	6	127697807	missense	probably benign	0.06
IGL02526:Prmt8	APN	6	127711823	missense	probably damaging	0.96
IGL03010:Prmt8	APN	6	127729535	missense	probably benign	0.09
IGL03037:Prmt8	APN	6	127703977	missense	possibly damaging	0.75
R0096:Prmt8	UTSW	6	127732627	splice site	probably benign
R0254:Prmt8	UTSW	6	127711808	missense	probably damaging	1.00
R0355:Prmt8	UTSW	6	127711874	nonsense	probably null
R0925:Prmt8	UTSW	6	127697813	missense	probably benign	0.00
R1606:Prmt8	UTSW	6	127689836	nonsense	probably null
R1716:Prmt8	UTSW	6	127726523	critical splice donor site	probably null
R3789:Prmt8	UTSW	6	127711147	missense	probably damaging	1.00
R3790:Prmt8	UTSW	6	127711147	missense	probably damaging	1.00
R3958:Prmt8	UTSW	6	127732744	missense	probably benign	0.00
R5022:Prmt8	UTSW	6	127711163	missense	possibly damaging	0.92
R5143:Prmt8	UTSW	6	127732714	missense	probably benign
R5635:Prmt8	UTSW	6	127768729	missense	probably damaging	1.00
R5816:Prmt8	UTSW	6	127697738	missense	probably benign	0.09
R5959:Prmt8	UTSW	6	127729418	missense	probably damaging	1.00
R6267:Prmt8	UTSW	6	127711804	missense	probably damaging	0.99
R6296:Prmt8	UTSW	6	127711804	missense	probably damaging	0.99
R6450:Prmt8	UTSW	6	127732643	missense	possibly damaging	0.71
R6603:Prmt8	UTSW	6	127729413	missense	probably benign	0.00
R7208:Prmt8	UTSW	6	127689829	missense	possibly damaging	0.81
R7629:Prmt8	UTSW	6	127689883	nonsense	probably null
R7719:Prmt8	UTSW	6	127729503	missense	probably damaging	0.97
R8346:Prmt8	UTSW	6	127711847	missense	probably damaging	1.00
R8404:Prmt8	UTSW	6	127689862	missense	possibly damaging	0.93
X0020:Prmt8	UTSW	6	127697771	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