Mutagenetix > Incidental Mutation

Incidental Mutation 'R1473:Prmt5'

165949

Institutional Source

Beutler Lab

Gene Symbol

Prmt5

Ensembl Gene

ENSMUSG00000023110

Gene Name

protein arginine N-methyltransferase 5

Synonyms

Jak-binding protein 1, Jbp1, Skb1

MMRRC Submission

039526-MU

Accession Numbers

Genbank: NM_013768.3; Ensembl: ENSMUST00000023873

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1473 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54507187-54517525 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54508915 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 580 (F580L)

Ref Sequence

ENSEMBL: ENSMUSP00000023873 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023873] [ENSMUST00000132227] [ENSMUST00000147214]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000023873
AA Change: F580L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023873
Gene: ENSMUSG00000023110
AA Change: F580L

Domain	Start	End	E-Value	Type
low complexity region	1	18	N/A	INTRINSIC
Pfam:PRMT5	181	619	4.5e-184	PFAM
Pfam:SAMBD	184	465	3e-119	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132227

SMART Domains

Protein: ENSMUSP00000138549
Gene: ENSMUSG00000023110

Domain	Start	End	E-Value	Type
low complexity region	1	18	N/A	INTRINSIC
PDB:4GQB\|A	19	40	5e-7	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000139964

SMART Domains

Protein: ENSMUSP00000121502
Gene: ENSMUSG00000023110

Domain	Start	End	E-Value	Type
Pfam:PRMT5	1	62	1.3e-10	PFAM
Pfam:SAMBD	1	203	4.6e-68	PFAM
Pfam:PRMT5	52	203	1.2e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147214

Meta Mutation Damage Score

0.7609

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

98% (88/90)

MGI Phenotype

FUNCTION: This gene encodes an enzyme that belongs to the methyltransferase family. The encoded protein catalyzes the transfer of methyl groups to the amino acid arginine, in target proteins that include histones, transcriptional elongation factors and the tumor suppressor p53. This gene plays a role in several cellular processes, including transcriptional regulation and the assembly of small nuclear ribonucleoproteins. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a null allele display embryonic lethality before somite formation with failure of inner cell mass proliferation. [provided by MGI curators]

Allele List at MGI

All alleles(9) : Targeted, other(4) Gene trapped(5)

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	T	C	19: 57,068,236	D342G	probably damaging	Het
Acad8	T	C	9: 26,979,041	T293A	probably benign	Het
Adamts13	C	A	2: 26,981,753	Y310*	probably null	Het
Adcy6	T	A	15: 98,592,743	Y1102F	probably damaging	Het
Ahctf1	G	A	1: 179,776,108	T791M	probably benign	Het
Ahctf1	A	G	1: 179,799,279	V18A	probably damaging	Het
Ampd3	T	G	7: 110,804,935	S564R	probably damaging	Het
Anapc1	A	T	2: 128,617,697	I1814K	possibly damaging	Het
Arl4c	A	T	1: 88,701,609	L19Q	probably damaging	Het
Atp6v0e2	T	C	6: 48,539,264	Y49H	probably damaging	Het
Ccdc24	G	T	4: 117,869,904		probably benign	Het
Clcn6	A	C	4: 148,024,156	F139V	possibly damaging	Het
Col2a1	A	G	15: 97,982,908		probably benign	Het
Crip2	T	A	12: 113,143,500	C29S	probably damaging	Het
Cyp2a4	A	C	7: 26,314,763	N455T	probably benign	Het
Dhcr7	A	G	7: 143,841,368	D113G	probably damaging	Het
Dhcr7	T	C	7: 143,847,068	Y323H	probably damaging	Het
Dnah7a	A	C	1: 53,496,014	S2696A	probably benign	Het
Dnajc12	A	G	10: 63,397,244	T55A	probably benign	Het
Drosha	G	A	15: 12,912,520	E1075K	probably benign	Het
Duox2	A	G	2: 122,287,121	S911P	possibly damaging	Het
Ephb2	G	A	4: 136,694,058	A327V	possibly damaging	Het
Espl1	C	T	15: 102,320,443	T1711I	possibly damaging	Het
Fmnl2	A	G	2: 52,858,207	K22R	possibly damaging	Het
Fzd6	T	C	15: 39,030,963	F175L	probably damaging	Het
Gm4737	T	A	16: 46,154,819	E65V	probably damaging	Het
Gm5155	A	G	7: 17,905,091		noncoding transcript	Het
Gm6526	A	G	14: 43,748,846	I76M	probably damaging	Het
Gm6583	T	C	5: 112,354,549	T430A	probably benign	Het
Gm9881	A	T	16: 91,170,735	F34I	unknown	Het
Gm9892	T	C	8: 52,196,614	D148G	possibly damaging	Het
Grb10	C	T	11: 11,934,249	V486I	probably damaging	Het
Gtf3c3	C	T	1: 54,417,778	A488T	probably damaging	Het
Hdac4	T	C	1: 92,029,968	H108R	possibly damaging	Het
Hist2h2bb	G	T	3: 96,270,072	L107F	probably damaging	Het
Hmcn1	G	A	1: 150,772,552	T661I	probably benign	Het
Icam1	T	A	9: 21,027,876	I515N	probably damaging	Het
Ifi208	A	G	1: 173,695,654	R497G	possibly damaging	Het
Igsf10	A	T	3: 59,318,767	V2495E	probably damaging	Het
Iqgap1	T	C	7: 80,734,011	M1102V	probably benign	Het
Itgb4	A	T	11: 115,984,047	N410I	probably benign	Het
Jup	T	C	11: 100,379,601	H360R	possibly damaging	Het
Kif20b	T	A	19: 34,974,496	S1685T	possibly damaging	Het
Lins1	T	C	7: 66,712,046		probably null	Het
Lrig1	T	A	6: 94,607,313	T917S	probably benign	Het
Mast2	A	G	4: 116,311,955	S814P	probably damaging	Het
Mast4	T	C	13: 102,772,519	T483A	probably damaging	Het
Mcpt1	T	C	14: 56,019,533	M176T	probably benign	Het
Mettl22	A	G	16: 8,473,961	Q38R	probably damaging	Het
Mrm2	T	C	5: 140,328,688	T131A	probably benign	Het
Nde1	T	G	16: 14,185,864	F71V	probably benign	Het
Nxn	C	T	11: 76,263,187	G274D	possibly damaging	Het
Olfr1230	A	T	2: 89,296,906	Y121*	probably null	Het
Olfr183	A	T	16: 58,999,912	T76S	probably benign	Het
Olfr414	T	A	1: 174,430,643	W72R	probably damaging	Het
Olfr427	G	T	1: 174,099,749	C97F	probably damaging	Het
Osbp2	T	C	11: 3,717,175		probably null	Het
Otud7a	C	A	7: 63,754,629		probably benign	Het
Phf3	G	A	1: 30,805,940	L1313F	probably damaging	Het
Pkhd1	A	T	1: 20,522,983	D1635E	probably benign	Het
Plpp1	A	G	13: 112,859,664	H171R	probably damaging	Het
Pofut1	A	G	2: 153,261,246	M172V	probably damaging	Het
Rab11fip3	A	T	17: 25,991,322	L987Q	probably damaging	Het
Retnlb	T	A	16: 48,818,665	C76*	probably null	Het
Rnf38	T	C	4: 44,131,584	N399S	probably benign	Het
Sbk1	A	G	7: 126,292,252	E286G	possibly damaging	Het
Scin	T	A	12: 40,077,502	T430S	probably benign	Het
Sgsm1	T	A	5: 113,263,257	T868S	probably benign	Het
Sipa1l1	G	A	12: 82,341,111	R37H	probably damaging	Het
Smchd1	A	T	17: 71,361,837		probably benign	Het
Sned1	G	A	1: 93,281,654	V830M	possibly damaging	Het
Soga1	A	T	2: 157,020,448	Y1520*	probably null	Het
Stk32c	C	T	7: 139,125,179	R23Q	probably damaging	Het
Sult1d1	A	G	5: 87,564,739	M82T	probably benign	Het
Tat	T	C	8: 109,996,918	L346P	probably damaging	Het
Tenm3	C	A	8: 48,310,625	G789V	probably damaging	Het
Thsd7a	C	T	6: 12,338,622	S1203N	probably benign	Het
Tmem191c	G	A	16: 17,277,962		probably null	Het
Tmem268	A	G	4: 63,580,338	T239A	probably damaging	Het
Tmem82	A	C	4: 141,616,278	L227R	possibly damaging	Het
Ttn	A	T	2: 76,727,032	I29906N	probably damaging	Het
Txndc15	T	C	13: 55,721,574		probably benign	Het
Ubqln4	A	G	3: 88,565,845	I536V	probably benign	Het
Unc80	C	T	1: 66,521,581	H823Y	possibly damaging	Het
Vmn2r102	A	T	17: 19,694,581	I803F	probably benign	Het
Vmn2r6	G	T	3: 64,538,158	Y715*	probably null	Het
Vmn2r74	A	T	7: 85,961,410	C25S	probably damaging	Het
Wdr38	A	G	2: 39,000,979	T261A	probably benign	Het
Zfp653	T	C	9: 22,058,220	E250G	possibly damaging	Het

Other mutations in Prmt5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01309:Prmt5	APN	14	54509877	missense	probably damaging	1.00
IGL01586:Prmt5	APN	14	54509951	unclassified	probably benign
IGL02063:Prmt5	APN	14	54511020	nonsense	probably null
IGL02249:Prmt5	APN	14	54509865	missense	probably damaging	1.00
IGL03024:Prmt5	APN	14	54516598	missense	possibly damaging	0.93
skipper	UTSW	14	54509911	missense	probably damaging	1.00
1mM(1):Prmt5	UTSW	14	54511500	critical splice donor site	probably null
R0485:Prmt5	UTSW	14	54511255	missense	probably damaging	1.00
R0664:Prmt5	UTSW	14	54507856	missense	probably damaging	0.99
R2106:Prmt5	UTSW	14	54507917	missense	probably benign	0.00
R2159:Prmt5	UTSW	14	54515338	missense	probably benign	0.03
R4728:Prmt5	UTSW	14	54507907	missense	probably benign	0.00
R4843:Prmt5	UTSW	14	54516125	missense	probably benign	0.33
R5261:Prmt5	UTSW	14	54507916	missense	probably damaging	0.96
R5277:Prmt5	UTSW	14	54509942	missense	probably benign	0.02
R5736:Prmt5	UTSW	14	54514840	missense	probably null	0.84
R5892:Prmt5	UTSW	14	54509911	missense	probably damaging	1.00
R5945:Prmt5	UTSW	14	54514887	missense	possibly damaging	0.52
R7021:Prmt5	UTSW	14	54515388	missense	probably damaging	1.00
R7091:Prmt5	UTSW	14	54511342	splice site	probably null
R7172:Prmt5	UTSW	14	54514886	missense	possibly damaging	0.92
R7574:Prmt5	UTSW	14	54507890	missense	possibly damaging	0.48
R9019:Prmt5	UTSW	14	54516107	missense	probably benign	0.01
R9234:Prmt5	UTSW	14	54511217	missense	possibly damaging	0.72
R9302:Prmt5	UTSW	14	54512126	missense	probably benign	0.22

Predicted Primers

PCR Primer
(F):5'- TCCCTCTTCCAGGTAAAGACTGGAC -3'
(R):5'- TGAGCGCATTAGCATGGGTGAC -3'

Sequencing Primer
(F):5'- CTTCCAGGTAAAGACTGGACAAGAG -3'
(R):5'- agctgagtactagccgagg -3'

Posted On

2014-03-28