Mutagenetix > Incidental Mutation

Incidental Mutation 'R4806:Edem2'

370661

Institutional Source

Beutler Lab

Gene Symbol

Edem2

Ensembl Gene

ENSMUSG00000038312

Gene Name

ER degradation enhancer, mannosidase alpha-like 2

Synonyms

9530090G24Rik

MMRRC Submission

042425-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.910) question?

Stock #

R4806 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

155543597-155571395 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155570913 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 39 (V39A)

Ref Sequence

ENSEMBL: ENSMUSP00000041202 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040833]

AlphaFold

Q8BJT9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040833
AA Change: V39A

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000041202
Gene: ENSMUSG00000038312
AA Change: V39A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Glyco_hydro_47	42	482	8.3e-118	PFAM

Meta Mutation Damage Score

0.2608

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.5%

Validation Efficiency

100% (66/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In the endoplasmic reticulum (ER), misfolded proteins are retrotranslocated to the cytosol and degraded by the proteasome in a process known as ER-associated degradation (ERAD). EDEM2 belongs to a family of proteins involved in ERAD of glycoproteins (Mast et al., 2005 [PubMed 15537790]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	A	G	7: 27,265,070 (GRCm39)		probably null	Het
2410137M14Rik	T	A	17: 37,289,746 (GRCm39)	H28L	probably benign	Het
4930562C15Rik	T	C	16: 4,667,536 (GRCm39)	F309S	unknown	Het
Acd	A	G	8: 106,424,922 (GRCm39)	V406A	possibly damaging	Het
Acin1	A	T	14: 54,916,685 (GRCm39)		probably benign	Het
Agbl4	T	C	4: 110,812,834 (GRCm39)	V118A	probably damaging	Het
Arhgap5	A	G	12: 52,565,486 (GRCm39)	D819G	probably damaging	Het
BC049715	A	T	6: 136,816,927 (GRCm39)	I56F	possibly damaging	Het
C1rb	A	T	6: 124,551,908 (GRCm39)	Q270L	probably benign	Het
Cadps2	C	T	6: 23,688,859 (GRCm39)	R121Q	probably damaging	Het
Cd84	A	G	1: 171,679,688 (GRCm39)	Y122C	probably benign	Het
Cklf	C	A	8: 104,984,067 (GRCm39)	P77T	probably damaging	Het
Clrn2	T	C	5: 45,611,346 (GRCm39)	L65P	probably damaging	Het
Csde1	TCCTCGACCT	TCCT	3: 102,963,685 (GRCm39)		probably benign	Het
Csf2rb2	T	C	15: 78,169,490 (GRCm39)	D446G	probably benign	Het
Csmd3	T	C	15: 48,177,464 (GRCm39)	E358G	probably benign	Het
Dmkn	C	T	7: 30,470,667 (GRCm39)	T385I	possibly damaging	Het
Dnah10	A	G	5: 124,896,408 (GRCm39)	T3591A	probably damaging	Het
Dpp9	A	G	17: 56,497,030 (GRCm39)	L734P	probably damaging	Het
Glmp	A	C	3: 88,233,320 (GRCm39)		probably benign	Het
Gm20775	T	C	Y: 10,641,885 (GRCm39)		noncoding transcript	Het
Gpr179	T	G	11: 97,240,610 (GRCm39)	D271A	possibly damaging	Het
Gtf2ird1	A	G	5: 134,412,750 (GRCm39)	V587A	probably damaging	Het
Igfn1	T	A	1: 135,895,095 (GRCm39)	T1824S	probably benign	Het
Ighmbp2	A	T	19: 3,311,589 (GRCm39)	I942N	probably damaging	Het
Ints2	A	G	11: 86,147,035 (GRCm39)	L37P	probably benign	Het
Irgq	T	A	7: 24,233,470 (GRCm39)	L437Q	probably damaging	Het
Kcnq4	A	T	4: 120,570,291 (GRCm39)	W351R	probably damaging	Het
Kif3b	G	A	2: 153,162,288 (GRCm39)	A500T	probably damaging	Het
Lpp	A	G	16: 24,480,430 (GRCm39)	D66G	probably damaging	Het
Mapkap1	G	A	2: 34,487,434 (GRCm39)		probably null	Het
Mc4r	T	A	18: 66,992,559 (GRCm39)	I185F	probably damaging	Het
Mdga1	T	C	17: 30,061,128 (GRCm39)	D621G	probably benign	Het
Med13	A	G	11: 86,189,403 (GRCm39)	S1169P	probably benign	Het
Myh11	A	T	16: 14,018,947 (GRCm39)		probably null	Het
Naip1	G	A	13: 100,562,129 (GRCm39)	A1012V	probably benign	Het
Ntn4	C	T	10: 93,480,362 (GRCm39)	R29C	probably damaging	Het
Plb1	G	A	5: 32,447,196 (GRCm39)	G321D	probably damaging	Het
Plxnd1	A	G	6: 115,937,816 (GRCm39)	V1510A	probably damaging	Het
Polr1e	T	A	4: 45,024,482 (GRCm39)	M131K	probably benign	Het
Prdm10	T	A	9: 31,241,237 (GRCm39)	*342R	probably null	Het
Prex2	T	C	1: 11,138,244 (GRCm39)	F108L	probably damaging	Het
Psmg2	T	A	18: 67,781,992 (GRCm39)	I186N	probably benign	Het
Ros1	T	A	10: 51,972,271 (GRCm39)	E1614D	probably damaging	Het
Sin3a	G	A	9: 56,994,026 (GRCm39)	V44M	probably damaging	Het
Slco1a1	G	A	6: 141,854,735 (GRCm39)	L639F	possibly damaging	Het
Smr2	T	G	5: 88,246,289 (GRCm39)	L101*	probably null	Het
Spata31d1b	C	T	13: 59,863,535 (GRCm39)	P228S	probably benign	Het
Stat5b	G	T	11: 100,681,623 (GRCm39)	H544N	probably benign	Het
Syk	A	T	13: 52,786,963 (GRCm39)	Y319F	probably benign	Het
Tln2	G	T	9: 67,239,015 (GRCm39)	T1087K	probably benign	Het
Tsc22d1	A	G	14: 76,654,428 (GRCm39)		probably null	Het
Vmn2r52	T	A	7: 9,893,169 (GRCm39)	T657S	probably damaging	Het
Vmn2r63	A	T	7: 42,576,314 (GRCm39)	S500T	probably benign	Het
Vps45	A	C	3: 95,953,725 (GRCm39)	V209G	probably benign	Het
Xrcc1	C	A	7: 24,269,905 (GRCm39)	A442E	probably benign	Het
Ythdc1	T	A	5: 86,970,704 (GRCm39)	V430E	probably damaging	Het
Zfp341	G	A	2: 154,487,786 (GRCm39)		probably benign	Het
Zfp422	A	T	6: 116,603,623 (GRCm39)	N125K	probably damaging	Het
Zfp53	T	A	17: 21,725,263 (GRCm39)	D58E	possibly damaging	Het
Zfp707	C	T	15: 75,845,000 (GRCm39)	Q66*	probably null	Het

Other mutations in Edem2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01141:Edem2	APN	2	155,550,948 (GRCm39)	missense	probably benign	0.01
IGL01417:Edem2	APN	2	155,570,898 (GRCm39)	missense	probably damaging	1.00
IGL02043:Edem2	APN	2	155,547,661 (GRCm39)	missense	probably damaging	1.00
IGL02403:Edem2	APN	2	155,550,983 (GRCm39)	missense	possibly damaging	0.81
R0488:Edem2	UTSW	2	155,558,043 (GRCm39)	missense	probably damaging	1.00
R1312:Edem2	UTSW	2	155,544,505 (GRCm39)	missense	probably damaging	0.99
R1547:Edem2	UTSW	2	155,564,436 (GRCm39)	missense	probably damaging	1.00
R2092:Edem2	UTSW	2	155,550,969 (GRCm39)	missense	probably benign	0.03
R2114:Edem2	UTSW	2	155,544,479 (GRCm39)	missense	probably damaging	1.00
R2250:Edem2	UTSW	2	155,552,893 (GRCm39)	splice site	probably null
R2268:Edem2	UTSW	2	155,544,137 (GRCm39)	missense	probably benign
R2287:Edem2	UTSW	2	155,555,279 (GRCm39)	missense	probably benign
R2919:Edem2	UTSW	2	155,550,947 (GRCm39)	missense	probably damaging	1.00
R4730:Edem2	UTSW	2	155,547,618 (GRCm39)	missense	possibly damaging	0.96
R5574:Edem2	UTSW	2	155,558,075 (GRCm39)	missense	probably damaging	1.00
R6714:Edem2	UTSW	2	155,570,809 (GRCm39)	critical splice donor site	probably null
R6913:Edem2	UTSW	2	155,568,594 (GRCm39)	missense	probably damaging	1.00
R7016:Edem2	UTSW	2	155,557,992 (GRCm39)	missense	possibly damaging	0.77
R7234:Edem2	UTSW	2	155,552,886 (GRCm39)	missense	probably benign	0.19
R8063:Edem2	UTSW	2	155,544,376 (GRCm39)	missense	probably benign	0.00
R9072:Edem2	UTSW	2	155,571,212 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGAGACCATGAAGCCACCAG -3'
(R):5'- ACAGGACACGAGCTCTATGC -3'

Sequencing Primer
(F):5'- AGCCCTCCTATGATCCCGG -3'
(R):5'- AGGACACGAGCTCTATGCCTTTC -3'

Posted On

2016-02-04