Mutagenetix > Incidental Mutation

Incidental Mutation 'R5959:Prmt8'

471346

Institutional Source

Beutler Lab

Gene Symbol

Prmt8

Ensembl Gene

ENSMUSG00000030350

Gene Name

protein arginine N-methyltransferase 8

Synonyms

Hrmt1l3, Hrmt1l4

MMRRC Submission

044146-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5959 (G1)

Quality Score

212

Status

Not validated

Chromosome

Chromosomal Location

127665972-127746430 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 127706381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 137 (V137L)

Ref Sequence

ENSEMBL: ENSMUSP00000032500 (fasta)

Gene Model

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

AlphaFold

Q6PAK3

Predicted Effect

probably damaging
Transcript: ENSMUST00000032500
AA Change: V137L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032500
Gene: ENSMUSG00000030350
AA Change: V137L

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: 99.9%
3x: 99.7%
10x: 98.3%
20x: 94.6%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	T	11: 84,106,792 (GRCm39)	N164Y	probably damaging	Het
Acp6	A	G	3: 97,073,888 (GRCm39)	E164G	probably damaging	Het
Adcy5	A	T	16: 35,118,780 (GRCm39)	I1044F	probably damaging	Het
Ahcyl2	A	G	6: 29,886,173 (GRCm39)	D363G	probably damaging	Het
Ankrd28	T	C	14: 31,451,879 (GRCm39)	T273A	probably benign	Het
Cc2d1a	A	T	8: 84,860,132 (GRCm39)	Y862*	probably null	Het
Cfap221	T	A	1: 119,860,511 (GRCm39)	H705L	probably damaging	Het
Cfap61	C	T	2: 145,789,053 (GRCm39)	T19M	probably benign	Het
Chga	T	C	12: 102,528,114 (GRCm39)	S202P	probably benign	Het
Cnmd	T	C	14: 79,894,109 (GRCm39)	I93V	probably damaging	Het
Cpne1	G	A	2: 155,920,143 (GRCm39)	S188L	probably benign	Het
Dchs2	G	A	3: 83,232,725 (GRCm39)	V2237I	probably benign	Het
Dguok	C	T	6: 83,467,574 (GRCm39)	R91H	probably benign	Het
Eed	A	G	7: 89,618,835 (GRCm39)	I193T	probably damaging	Het
Fasn	C	T	11: 120,699,390 (GRCm39)	E2353K	probably damaging	Het
Fpr-rs7	G	A	17: 20,334,011 (GRCm39)	H160Y	probably benign	Het
Gramd4	T	A	15: 86,011,758 (GRCm39)	M272K	probably damaging	Het
Hfm1	A	G	5: 107,022,783 (GRCm39)	S940P	probably damaging	Het
Ifnlr1	T	A	4: 135,432,652 (GRCm39)	S363T	possibly damaging	Het
Jak3	A	G	8: 72,134,715 (GRCm39)	N481D	probably damaging	Het
Kcnj3	A	G	2: 55,327,330 (GRCm39)	K40E	probably benign	Het
Kif20a	G	A	18: 34,765,468 (GRCm39)	A822T	probably benign	Het
Lpcat4	T	A	2: 112,070,380 (GRCm39)	L31H	possibly damaging	Het
Myo1c	A	G	11: 75,548,345 (GRCm39)	T38A	probably benign	Het
Myt1l	T	C	12: 29,970,039 (GRCm39)		probably null	Het
Nbas	T	C	12: 13,338,802 (GRCm39)	V214A	probably damaging	Het
Neb	C	A	2: 52,046,389 (GRCm39)	R6537L	probably benign	Het
Nwd2	T	A	5: 63,965,413 (GRCm39)	F1666I	probably benign	Het
Or52z1	T	A	7: 103,436,723 (GRCm39)	I254F	probably damaging	Het
Or8b1	A	G	9: 38,400,207 (GRCm39)	N294S	probably damaging	Het
Ptpn21	A	T	12: 98,675,148 (GRCm39)		probably null	Het
Rab15	A	G	12: 76,869,043 (GRCm39)	S17P	probably damaging	Het
Rbm5	T	G	9: 107,629,339 (GRCm39)	I338L	probably benign	Het
Rragc	G	A	4: 123,817,767 (GRCm39)	S218N	probably damaging	Het
Sacs	T	C	14: 61,449,849 (GRCm39)	M3965T	probably damaging	Het
Sgo2b	T	A	8: 64,380,322 (GRCm39)	I837F	probably benign	Het
Sorcs3	T	G	19: 48,737,835 (GRCm39)	C751G	probably damaging	Het
Sowahc	A	G	10: 59,058,920 (GRCm39)	D352G	probably benign	Het
Sox15	C	T	11: 69,546,556 (GRCm39)	R120C	probably damaging	Het
Spata31f1e	T	A	4: 42,793,492 (GRCm39)	K213N	probably damaging	Het
Srr	A	G	11: 74,801,891 (GRCm39)	V126A	possibly damaging	Het
Tenm3	T	A	8: 49,099,482 (GRCm39)	R108*	probably null	Het
Traf3ip2	A	T	10: 39,517,337 (GRCm39)	M403L	probably benign	Het
Trappc11	T	C	8: 47,954,593 (GRCm39)	D949G	probably damaging	Het
Ttn	A	G	2: 76,544,960 (GRCm39)	I32714T	probably damaging	Het
Ttn	T	A	2: 76,693,849 (GRCm39)	T218S	possibly damaging	Het
Uaca	A	T	9: 60,778,052 (GRCm39)	H811L	probably damaging	Het
Ugt2b1	T	C	5: 87,073,813 (GRCm39)	E182G	probably benign	Het
Vmn1r49	T	C	6: 90,049,786 (GRCm39)	D72G	probably damaging	Het
Vmn2r80	A	T	10: 79,005,313 (GRCm39)	M317L	probably benign	Het
Vwa2	T	C	19: 56,869,604 (GRCm39)	L13P	possibly damaging	Het
Zc3hav1	G	A	6: 38,284,379 (GRCm39)	T912I	probably benign	Het
Zfp703	C	T	8: 27,469,233 (GRCm39)	P299L	probably damaging	Het
Zfp948	A	G	17: 21,807,776 (GRCm39)	K323E	probably benign	Het
Zfyve27	T	G	19: 42,167,887 (GRCm39)	V143G	unknown	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
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
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'- CTCTGCTCCTCTAACAAGAGAG -3'
(R):5'- ATGCTCATGAGTCCCCTGAC -3'

Sequencing Primer
(F):5'- GCTCCTCTAACAAGAGAGATAGACTG -3'
(R):5'- GTCCCCTGACTGTATCTTTCTC -3'

Posted On

2017-03-31