Mutagenetix > Incidental Mutation

Incidental Mutation 'R6603:Prmt8'

525443

Institutional Source

Beutler Lab

Gene Symbol

Prmt8

Ensembl Gene

ENSMUSG00000030350

Gene Name

protein arginine N-methyltransferase 8

Synonyms

Hrmt1l3, Hrmt1l4

MMRRC Submission

044726-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6603 (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 T at 127706376 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 138 (F138L)

Ref Sequence

ENSEMBL: ENSMUSP00000032500 (fasta)

Gene Model

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

AlphaFold

Q6PAK3

Predicted Effect

probably benign
Transcript: ENSMUST00000032500
AA Change: F138L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000032500
Gene: ENSMUSG00000030350
AA Change: F138L

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: 99.5%
10x: 97.7%
20x: 92.9%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	A	T	8: 25,155,518 (GRCm39)	F167Y	possibly damaging	Het
Ap3d1	A	G	10: 80,549,881 (GRCm39)	S755P	probably benign	Het
Aph1a	A	T	3: 95,802,808 (GRCm39)	N136I	probably damaging	Het
AU040320	T	A	4: 126,686,046 (GRCm39)	N207K	probably benign	Het
Caprin1	A	T	2: 103,605,856 (GRCm39)	D377E	probably benign	Het
Col18a1	A	G	10: 76,899,811 (GRCm39)		probably null	Het
Ddi2	T	C	4: 141,411,181 (GRCm39)	N577S	probably damaging	Het
Dip2c	T	A	13: 9,704,624 (GRCm39)		probably null	Het
Dmbt1	A	T	7: 130,648,240 (GRCm39)		probably null	Het
Fam13a	T	C	6: 58,964,174 (GRCm39)	K86R	probably benign	Het
Fam168b	C	A	1: 34,875,822 (GRCm39)	G21V	probably damaging	Het
Fbxl8	A	T	8: 105,994,842 (GRCm39)	D118V	probably damaging	Het
Garin5b	G	A	7: 4,761,431 (GRCm39)	P427L	possibly damaging	Het
Git2	C	A	5: 114,869,052 (GRCm39)		probably null	Het
Gm17190	T	G	13: 96,218,770 (GRCm39)	D35E	possibly damaging	Het
Gnb4	C	T	3: 32,639,295 (GRCm39)	D333N	probably damaging	Het
Has2	T	A	15: 56,531,968 (GRCm39)	D249V	probably damaging	Het
Ighv1-23	A	G	12: 114,728,141 (GRCm39)	S94P	probably damaging	Het
Itpr2	A	G	6: 146,248,669 (GRCm39)	I1029T	probably damaging	Het
Kctd16	T	C	18: 40,391,544 (GRCm39)	I44T	probably benign	Het
Kpna1	A	G	16: 35,849,890 (GRCm39)		probably null	Het
Lonrf1	T	A	8: 36,690,095 (GRCm39)	R654S	probably damaging	Het
Lrrc49	A	C	9: 60,501,052 (GRCm39)		probably null	Het
Miip	T	G	4: 147,950,380 (GRCm39)	K72T	possibly damaging	Het
Mink1	C	T	11: 70,500,419 (GRCm39)	P782S	probably damaging	Het
Mpped2	A	G	2: 106,697,322 (GRCm39)	T266A	probably benign	Het
Naip1	G	A	13: 100,559,578 (GRCm39)	S1142F	probably benign	Het
Naip1	C	T	13: 100,559,666 (GRCm39)	G1113S	probably benign	Het
Nbr1	A	G	11: 101,446,931 (GRCm39)		probably benign	Het
Necab3	A	T	2: 154,396,842 (GRCm39)	N46K	probably damaging	Het
Or51a8	A	T	7: 102,549,621 (GRCm39)	I16F	probably benign	Het
Phtf1	C	T	3: 103,901,189 (GRCm39)	R360C	probably damaging	Het
Plcl2	A	G	17: 50,914,145 (GRCm39)	I385V	probably benign	Het
Prpf40a	T	G	2: 53,042,975 (GRCm39)	R436S	probably damaging	Het
Rab27b	T	A	18: 70,118,375 (GRCm39)	I181F	probably damaging	Het
Rasgrf1	A	G	9: 89,792,310 (GRCm39)	E87G	probably damaging	Het
Scrib	T	A	15: 75,934,572 (GRCm39)	T674S	probably benign	Het
Slc9a4	A	G	1: 40,662,664 (GRCm39)	S644G	probably benign	Het
Slc9a9	G	A	9: 94,821,599 (GRCm39)	A329T	probably damaging	Het
Smc4	T	C	3: 68,929,794 (GRCm39)		probably null	Het
Sox7	T	A	14: 64,185,637 (GRCm39)	H224Q	probably benign	Het
Spata31	T	C	13: 65,070,479 (GRCm39)	S876P	probably damaging	Het
Syndig1	G	A	2: 149,845,208 (GRCm39)	V244M	probably damaging	Het
Tas2r113	A	T	6: 132,870,421 (GRCm39)	I150L	probably benign	Het
Tasor	A	G	14: 27,168,343 (GRCm39)	Y295C	probably damaging	Het
Tmem59l	G	A	8: 70,939,006 (GRCm39)	P56L	probably benign	Het
Tnfrsf8	A	T	4: 145,019,168 (GRCm39)	D222E	possibly damaging	Het
Trim52	T	C	14: 106,344,483 (GRCm39)	L47P	probably damaging	Het
Ttc34	T	A	4: 154,923,762 (GRCm39)	I157K	probably benign	Het
Txndc16	A	G	14: 45,389,224 (GRCm39)	F492S	probably damaging	Het
Ubr4	A	G	4: 139,182,897 (GRCm39)	I428V	probably benign	Het
Vmn2r41	T	A	7: 8,141,359 (GRCm39)	I702F	probably damaging	Het
Wdr12	T	A	1: 60,121,783 (GRCm39)	H256L	probably damaging	Het
Xirp2	A	G	2: 67,346,888 (GRCm39)	H3043R	probably benign	Het
Xrcc1	C	T	7: 24,270,459 (GRCm39)	Q500*	probably null	Het
Zfp583	T	C	7: 6,328,475 (GRCm39)	N38S	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
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'- TGCTCCTCTAACAAGAGAGATAGAC -3'
(R):5'- ATGCTCATGAGTCCCCTGAC -3'

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

Posted On

2018-06-22