Mutagenetix > Incidental Mutation

Incidental Mutation 'R9447:Epm2a'

714007

Institutional Source

Beutler Lab

Gene Symbol

Epm2a

Ensembl Gene

ENSMUSG00000055493

Gene Name

epilepsy, progressive myoclonic epilepsy, type 2 gene alpha

Synonyms

laforin

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

R9447 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

11219148-11335388 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 11324432 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 174 (H174Y)

Ref Sequence

ENSEMBL: ENSMUSP00000066050 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069106]

AlphaFold

Q9WUA5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069106
AA Change: H174Y

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000066050
Gene: ENSMUSG00000055493
AA Change: H174Y

Domain	Start	End	E-Value	Type
CBM_2	4	115	4.89e-14	SMART
Pfam:DSPc	163	314	1.9e-15	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a dual-specificity phosphatase that associates with polyribosomes. The encoded protein may be involved in the regulation of glycogen metabolism. Mutations in this gene have been associated with myoclonic epilepsy of Lafora. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit behavioral deficits, ataxia, myoclonus epilepsy, and widespread degeneration of neurons in the presence of only a few small Lafora inclusions, providing a putative mouse model of human Lafora disease. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	T	A	3: 59,651,051 (GRCm39)	Y58N	probably damaging	Het
Ago4	G	A	4: 126,402,151 (GRCm39)	P572S	probably benign	Het
Akr1c19	A	G	13: 4,296,838 (GRCm39)	I295V	probably benign	Het
Cadps2	A	T	6: 23,323,297 (GRCm39)	I1007K	probably damaging	Het
Cd47	C	A	16: 49,715,822 (GRCm39)	T196K		Het
Cdrt4	T	G	11: 62,883,418 (GRCm39)	L40R	probably damaging	Het
Cox16	A	T	12: 81,406,109 (GRCm39)	C72S	probably benign	Het
Cyp2t4	G	A	7: 26,854,717 (GRCm39)	V66M	possibly damaging	Het
Daxx	A	T	17: 34,132,247 (GRCm39)	D497V	unknown	Het
Ddt	A	G	10: 75,608,671 (GRCm39)	V62A	possibly damaging	Het
Dhx57	A	G	17: 80,549,523 (GRCm39)	V1294A	probably damaging	Het
Dnaaf5	A	G	5: 139,163,743 (GRCm39)	T667A	probably damaging	Het
Dnase2a	A	C	8: 85,635,786 (GRCm39)	S90R	probably damaging	Het
Dytn	A	G	1: 63,700,302 (GRCm39)	V276A		Het
Efcab8	G	C	2: 153,646,861 (GRCm39)	V397L	unknown	Het
Enpp6	A	T	8: 47,483,600 (GRCm39)	R131W	probably damaging	Het
Fcho1	A	G	8: 72,169,913 (GRCm39)	L70P	probably damaging	Het
Fhip1b	G	T	7: 105,034,155 (GRCm39)	T492K	probably benign	Het
Fstl4	G	T	11: 53,077,166 (GRCm39)	C641F	probably damaging	Het
Ganab	C	T	19: 8,886,894 (GRCm39)	H327Y	probably damaging	Het
Gkn1	A	G	6: 87,323,322 (GRCm39)	Y164H	probably benign	Het
Gm57858	A	G	3: 36,074,195 (GRCm39)	V318A	possibly damaging	Het
Hpf1	A	G	8: 61,348,618 (GRCm39)	D111G	probably damaging	Het
Hs3st2	C	T	7: 120,992,289 (GRCm39)	R113W	probably damaging	Het
Ighm	A	T	12: 113,384,794 (GRCm39)	L353Q		Het
Krbox5	A	G	13: 67,981,953 (GRCm39)	E55G	probably damaging	Het
Ksr1	T	C	11: 78,909,159 (GRCm39)	D782G	unknown	Het
Lpin2	A	G	17: 71,539,087 (GRCm39)	K392E	unknown	Het
Lrrc4	A	G	6: 28,830,650 (GRCm39)	S322P	probably benign	Het
Man2a1	T	C	17: 64,966,001 (GRCm39)	V313A	possibly damaging	Het
Mctp1	A	G	13: 76,727,904 (GRCm39)	S9G	probably benign	Het
Morn5	A	T	2: 35,969,525 (GRCm39)		probably null	Het
Mroh2b	C	T	15: 4,960,823 (GRCm39)	A795V	probably damaging	Het
Ncf4	G	T	15: 78,146,499 (GRCm39)	A310S	probably benign	Het
Nedd4	T	C	9: 72,577,381 (GRCm39)	Y69H	probably benign	Het
Nras	T	C	3: 102,967,673 (GRCm39)	F90L	possibly damaging	Het
Nrxn3	T	C	12: 89,221,678 (GRCm39)	F113L	probably benign	Het
Ntsr1	C	T	2: 180,180,540 (GRCm39)	T282I	probably benign	Het
Or1e1d-ps1	G	T	11: 73,819,617 (GRCm39)	C189F	probably benign	Het
Osbpl3	T	A	6: 50,321,857 (GRCm39)	K310*	probably null	Het
Pcca	T	C	14: 122,854,290 (GRCm39)	V194A	probably damaging	Het
Plekha5	A	G	6: 140,525,192 (GRCm39)	Y900C	probably damaging	Het
Prss22	T	C	17: 24,212,837 (GRCm39)	D300G	probably benign	Het
Rad17	A	T	13: 100,764,119 (GRCm39)	Y451N	probably damaging	Het
Rnf181	G	T	6: 72,337,570 (GRCm39)	T97K	probably damaging	Het
Sec24d	T	C	3: 123,084,162 (GRCm39)	S114P	probably benign	Het
Siae	C	A	9: 37,557,743 (GRCm39)	Q517K	probably benign	Het
Smurf2	A	T	11: 106,715,548 (GRCm39)	V653D	probably damaging	Het
Sqor	C	A	2: 122,649,520 (GRCm39)	T359K	possibly damaging	Het
Taf6	A	T	5: 138,176,970 (GRCm39)	*637R	probably null	Het
Tas2r109	A	C	6: 132,957,270 (GRCm39)	M220R	probably damaging	Het
Tlr2	T	A	3: 83,748,445 (GRCm39)		probably null	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tmem8b	T	G	4: 43,685,766 (GRCm39)	L179R	probably damaging	Het
Tnfrsf10b	T	A	14: 70,013,608 (GRCm39)	H179Q	probably damaging	Het
Trip11	T	A	12: 101,850,148 (GRCm39)	K1305N	probably damaging	Het
Ttn	C	A	2: 76,582,862 (GRCm39)	W22677L	probably damaging	Het
Ube2r2	T	C	4: 41,190,655 (GRCm39)	V183A	probably damaging	Het
Ubqln4	T	A	3: 88,464,124 (GRCm39)	D208E	probably benign	Het
Ugt2a3	T	A	5: 87,473,330 (GRCm39)	N529I	probably benign	Het
Vmn1r125	A	G	7: 21,006,627 (GRCm39)	N175S	probably benign	Het
Xirp2	T	A	2: 67,338,950 (GRCm39)	I397K	probably damaging	Het
Zfp821	G	A	8: 110,450,816 (GRCm39)	V270I	probably damaging	Het
Zfp935	A	G	13: 62,602,842 (GRCm39)	V99A	possibly damaging	Het

Other mutations in Epm2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00596:Epm2a	APN	10	11,324,384 (GRCm39)	critical splice acceptor site	probably null
IGL01925:Epm2a	APN	10	11,324,502 (GRCm39)	missense	possibly damaging	0.93
IGL02612:Epm2a	APN	10	11,332,980 (GRCm39)	missense	probably damaging	1.00
IGL03052:Epm2a	UTSW	10	11,332,974 (GRCm39)	missense	possibly damaging	0.95
R1432:Epm2a	UTSW	10	11,266,587 (GRCm39)	missense	probably damaging	0.99
R1716:Epm2a	UTSW	10	11,324,580 (GRCm39)	missense	probably benign	0.31
R1785:Epm2a	UTSW	10	11,219,426 (GRCm39)	missense	probably benign
R2132:Epm2a	UTSW	10	11,219,426 (GRCm39)	missense	probably benign
R2133:Epm2a	UTSW	10	11,219,426 (GRCm39)	missense	probably benign
R3715:Epm2a	UTSW	10	11,219,420 (GRCm39)	missense	probably benign	0.01
R4794:Epm2a	UTSW	10	11,266,597 (GRCm39)	missense	probably benign	0.01
R5222:Epm2a	UTSW	10	11,324,493 (GRCm39)	missense	probably damaging	0.99
R5254:Epm2a	UTSW	10	11,333,089 (GRCm39)	missense	probably benign	0.00
R6608:Epm2a	UTSW	10	11,266,731 (GRCm39)	critical splice donor site	probably null
R6941:Epm2a	UTSW	10	11,266,829 (GRCm39)	splice site	probably null
R7211:Epm2a	UTSW	10	11,219,419 (GRCm39)	missense	probably benign	0.00
R7440:Epm2a	UTSW	10	11,266,619 (GRCm39)	nonsense	probably null
R7740:Epm2a	UTSW	10	11,266,684 (GRCm39)	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- CATAGAGCACATACAACATGTTGAG -3'
(R):5'- TGGGCATCCAGATGTAGGAC -3'

Sequencing Primer
(F):5'- TTCCTGAAGCAGTAAAACAAGTAG -3'
(R):5'- GGACAAGCCTTCTTCCTTATACAG -3'

Posted On

2022-06-15