Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02063:Prmt5'

185510

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prmt5

Ensembl Gene

ENSMUSG00000023110

Gene Name

protein arginine N-methyltransferase 5

Synonyms

Jbp1, Jak-binding protein 1, Skb1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02063

Quality Score

Status

Chromosome

Chromosomal Location

54744639-54754927 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 54748477 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 197 (Q197*)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000023873
AA Change: Q412*

SMART Domains

Protein: ENSMUSP00000023873
Gene: ENSMUSG00000023110
AA Change: Q412*

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

noncoding transcript
Transcript: ENSMUST00000133552

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138367

Predicted Effect

probably null
Transcript: ENSMUST00000139964
AA Change: Q197*

SMART Domains

Protein: ENSMUSP00000121502
Gene: ENSMUSG00000023110
AA Change: Q197*

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

Coding Region Coverage

Validation Efficiency

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg2b	A	G	12: 105,614,581 (GRCm39)	Y1117H	possibly damaging	Het
B020004C17Rik	A	G	14: 57,253,480 (GRCm39)	R24G	probably damaging	Het
BC005624	A	G	2: 30,868,946 (GRCm39)	M76T	probably benign	Het
Blm	G	T	7: 80,159,167 (GRCm39)	S323*	probably null	Het
Card19	C	A	13: 49,356,607 (GRCm39)	G181*	probably null	Het
Cilp2	T	C	8: 70,335,515 (GRCm39)	I494M	probably damaging	Het
Col5a2	A	G	1: 45,442,579 (GRCm39)		probably null	Het
Col6a4	T	C	9: 105,934,617 (GRCm39)	D1431G	probably benign	Het
Cped1	G	A	6: 22,138,701 (GRCm39)	C560Y	probably damaging	Het
Cyfip1	T	C	7: 55,576,096 (GRCm39)	S1091P	probably damaging	Het
Ddx24	A	G	12: 103,384,461 (GRCm39)	I466T	probably damaging	Het
Dlg2	T	A	7: 91,459,684 (GRCm39)		probably benign	Het
Esf1	C	A	2: 140,006,377 (GRCm39)	D257Y	possibly damaging	Het
Fgfr2	A	G	7: 129,769,485 (GRCm39)	F634S	probably damaging	Het
Flywch2	A	G	17: 23,996,081 (GRCm39)		probably benign	Het
Gbp10	A	T	5: 105,383,906 (GRCm39)	I32N	possibly damaging	Het
Gli3	A	G	13: 15,900,957 (GRCm39)	D1448G	possibly damaging	Het
Gm10335	T	C	10: 14,399,147 (GRCm39)		probably benign	Het
Golga5	A	T	12: 102,438,418 (GRCm39)	E44D	probably benign	Het
H2-M10.1	C	T	17: 36,634,901 (GRCm39)		probably benign	Het
Ino80b	A	T	6: 83,101,143 (GRCm39)	D141E	probably damaging	Het
Itpr3	A	G	17: 27,338,997 (GRCm39)	I2593V	probably benign	Het
Krt73	C	T	15: 101,704,204 (GRCm39)		probably benign	Het
Loxl4	G	T	19: 42,596,778 (GRCm39)	L78I	probably benign	Het
Mbd5	A	T	2: 49,164,779 (GRCm39)	N360I	probably damaging	Het
Nfat5	A	T	8: 108,088,450 (GRCm39)	M495L	probably benign	Het
Nrxn3	A	T	12: 88,762,565 (GRCm39)	E204V	possibly damaging	Het
Or8k21	G	T	2: 86,145,137 (GRCm39)	F164L	possibly damaging	Het
Paqr4	A	T	17: 23,958,886 (GRCm39)	C38*	probably null	Het
Pcdhb13	T	A	18: 37,577,282 (GRCm39)	N553K	probably damaging	Het
Pcdhb9	T	A	18: 37,534,810 (GRCm39)	M268K	probably benign	Het
Pdap1	A	T	5: 145,071,869 (GRCm39)		probably benign	Het
Phf2	A	T	13: 48,975,118 (GRCm39)	Y281N	unknown	Het
Phka2	T	A	X: 159,347,209 (GRCm39)	I664N	possibly damaging	Het
Plekha7	A	T	7: 115,739,936 (GRCm39)	D762E	possibly damaging	Het
Plekhg4	T	A	8: 106,105,884 (GRCm39)		probably benign	Het
Ppfia2	A	T	10: 106,740,706 (GRCm39)	Q1006L	probably null	Het
Pramel12	C	A	4: 143,144,421 (GRCm39)	Q256K	probably benign	Het
Prodh	A	T	16: 17,897,049 (GRCm39)		probably null	Het
Ptgr3	T	A	18: 84,113,390 (GRCm39)	Y355*	probably null	Het
Rnft2	A	G	5: 118,380,587 (GRCm39)		probably benign	Het
Rp1l1	G	T	14: 64,266,985 (GRCm39)	S857I	probably damaging	Het
Samd9l	A	G	6: 3,372,992 (GRCm39)	F1423S	probably damaging	Het
Scn3a	A	G	2: 65,291,854 (GRCm39)	Y1631H	probably damaging	Het
Slc22a5	A	T	11: 53,765,899 (GRCm39)	I229K	probably damaging	Het
Slco1a7	T	C	6: 141,684,615 (GRCm39)	D280G	probably benign	Het
Snd1	T	A	6: 28,526,220 (GRCm39)		probably benign	Het
Srrm1	G	T	4: 135,074,518 (GRCm39)		probably null	Het
Syne2	T	C	12: 76,098,874 (GRCm39)	V5252A	probably damaging	Het
Tek	A	G	4: 94,627,882 (GRCm39)	D2G	probably benign	Het
Uba1	T	C	X: 20,545,964 (GRCm39)	S803P	probably damaging	Het
Uggt2	A	G	14: 119,326,605 (GRCm39)	I202T	possibly damaging	Het
Umodl1	A	T	17: 31,206,888 (GRCm39)	I760F	probably benign	Het
Vgll1	A	G	X: 56,144,569 (GRCm39)		probably benign	Het
Zfp236	A	G	18: 82,676,276 (GRCm39)	V347A	probably benign	Het
Zswim9	T	C	7: 12,994,608 (GRCm39)	E516G	probably damaging	Het

Other mutations in Prmt5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01309:Prmt5	APN	14	54,747,334 (GRCm39)	missense	probably damaging	1.00
IGL01586:Prmt5	APN	14	54,747,408 (GRCm39)	unclassified	probably benign
IGL02249:Prmt5	APN	14	54,747,322 (GRCm39)	missense	probably damaging	1.00
IGL03024:Prmt5	APN	14	54,754,055 (GRCm39)	missense	possibly damaging	0.93
skipper	UTSW	14	54,747,368 (GRCm39)	missense	probably damaging	1.00
1mM(1):Prmt5	UTSW	14	54,748,957 (GRCm39)	critical splice donor site	probably null
R0485:Prmt5	UTSW	14	54,748,712 (GRCm39)	missense	probably damaging	1.00
R0664:Prmt5	UTSW	14	54,745,313 (GRCm39)	missense	probably damaging	0.99
R1473:Prmt5	UTSW	14	54,746,372 (GRCm39)	missense	probably damaging	1.00
R2106:Prmt5	UTSW	14	54,745,374 (GRCm39)	missense	probably benign	0.00
R2159:Prmt5	UTSW	14	54,752,795 (GRCm39)	missense	probably benign	0.03
R4728:Prmt5	UTSW	14	54,745,364 (GRCm39)	missense	probably benign	0.00
R4843:Prmt5	UTSW	14	54,753,582 (GRCm39)	missense	probably benign	0.33
R5261:Prmt5	UTSW	14	54,745,373 (GRCm39)	missense	probably damaging	0.96
R5277:Prmt5	UTSW	14	54,747,399 (GRCm39)	missense	probably benign	0.02
R5736:Prmt5	UTSW	14	54,752,297 (GRCm39)	missense	probably null	0.84
R5892:Prmt5	UTSW	14	54,747,368 (GRCm39)	missense	probably damaging	1.00
R5945:Prmt5	UTSW	14	54,752,344 (GRCm39)	missense	possibly damaging	0.52
R7021:Prmt5	UTSW	14	54,752,845 (GRCm39)	missense	probably damaging	1.00
R7091:Prmt5	UTSW	14	54,748,799 (GRCm39)	splice site	probably null
R7172:Prmt5	UTSW	14	54,752,343 (GRCm39)	missense	possibly damaging	0.92
R7574:Prmt5	UTSW	14	54,745,347 (GRCm39)	missense	possibly damaging	0.48
R9019:Prmt5	UTSW	14	54,753,564 (GRCm39)	missense	probably benign	0.01
R9234:Prmt5	UTSW	14	54,748,674 (GRCm39)	missense	possibly damaging	0.72
R9302:Prmt5	UTSW	14	54,749,583 (GRCm39)	missense	probably benign	0.22

Posted On

2014-05-07