Mutagenetix > Incidental Mutation

Incidental Mutation 'R8063:Edem2'

619836

Institutional Source

Beutler Lab

Gene Symbol

Edem2

Ensembl Gene

ENSMUSG00000038312

Gene Name

ER degradation enhancer, mannosidase alpha-like 2

Synonyms

9530090G24Rik

MMRRC Submission

067499-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.887) question?

Stock #

R8063 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155543597-155571395 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 155544376 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 458 (M458K)

Ref Sequence

ENSEMBL: ENSMUSP00000041202 (fasta)

Gene Model

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

AlphaFold

Q8BJT9

Predicted Effect

probably benign
Transcript: ENSMUST00000040833
AA Change: M458K

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

SMART Domains

Protein: ENSMUSP00000041202
Gene: ENSMUSG00000038312
AA Change: M458K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (53/54)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	T	A	11: 105,862,190 (GRCm39)	I248N	possibly damaging	Het
Agk	T	A	6: 40,306,490 (GRCm39)	C20S	possibly damaging	Het
Alpk2	G	A	18: 65,483,417 (GRCm39)	S197L	probably benign	Het
Armc10	T	C	5: 21,853,768 (GRCm39)		probably null	Het
Asxl2	A	G	12: 3,550,768 (GRCm39)	T837A	probably benign	Het
Atp12a	A	G	14: 56,603,545 (GRCm39)	E50G	probably damaging	Het
Bend5	G	T	4: 111,317,031 (GRCm39)	C398F	probably damaging	Het
Bicra	A	G	7: 15,712,969 (GRCm39)	V1026A	probably benign	Het
Canx	A	T	11: 50,199,173 (GRCm39)	Y165*	probably null	Het
Casp14	A	G	10: 78,549,865 (GRCm39)	F210L	probably damaging	Het
Cep70	T	A	9: 99,178,175 (GRCm39)	D458E	probably benign	Het
Cisd3	T	C	11: 97,576,710 (GRCm39)	V12A	probably benign	Het
Cnot4	A	T	6: 35,045,578 (GRCm39)	M211K	probably damaging	Het
Cyp4f18	A	G	8: 72,752,075 (GRCm39)	L197P	probably damaging	Het
Dnah5	T	A	15: 28,230,729 (GRCm39)	I209N	probably benign	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Eif2ak4	G	A	2: 118,241,382 (GRCm39)	E178K	possibly damaging	Het
Fars2	G	A	13: 36,388,880 (GRCm39)	W123*	probably null	Het
Ighv1-20	T	C	12: 114,687,405 (GRCm39)	Y113C	probably damaging	Het
Il18r1	T	A	1: 40,526,198 (GRCm39)	I248N	probably benign	Het
Impg2	T	A	16: 56,081,819 (GRCm39)		probably benign	Het
Kcnh2	T	C	5: 24,526,670 (GRCm39)	E1042G	probably benign	Het
Krt42	G	C	11: 100,155,865 (GRCm39)	R294G	possibly damaging	Het
Lasp1	T	C	11: 97,724,957 (GRCm39)	Y188H	probably benign	Het
Lrrc37	T	C	11: 103,433,087 (GRCm39)	T3361A	unknown	Het
Lrrc52	A	G	1: 167,294,090 (GRCm39)	I65T	probably damaging	Het
Megf9	A	G	4: 70,406,495 (GRCm39)	C224R	probably damaging	Het
Ms4a10	T	C	19: 10,942,136 (GRCm39)	T162A	probably benign	Het
Mstn	T	A	1: 53,105,607 (GRCm39)	F316L	probably benign	Het
Ndufs8	T	C	19: 3,961,019 (GRCm39)	Y86C	probably damaging	Het
Or10d4b	A	T	9: 39,534,823 (GRCm39)	I133F	probably damaging	Het
Pappa2	C	T	1: 158,764,126 (GRCm39)	D462N	possibly damaging	Het
Rad51d	A	G	11: 82,780,597 (GRCm39)	S62P	probably benign	Het
Ralgapa2	A	G	2: 146,285,775 (GRCm39)	Y388H	probably damaging	Het
Rdm1	C	A	11: 101,521,694 (GRCm39)	Q150K	probably benign	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Sctr	T	C	1: 119,991,005 (GRCm39)	V446A	probably benign	Het
Sin3b	G	A	8: 73,452,169 (GRCm39)	D71N	probably damaging	Het
Sirt5	A	T	13: 43,524,323 (GRCm39)	T32S	probably benign	Het
Slc17a1	T	C	13: 24,059,524 (GRCm39)	V85A	probably benign	Het
Snx1	C	T	9: 66,004,676 (GRCm39)		probably benign	Het
Sorcs1	T	A	19: 50,132,415 (GRCm39)	D1181V	unknown	Het
Tcof1	A	G	18: 60,971,834 (GRCm39)	S158P	probably damaging	Het
Tet3	T	C	6: 83,379,723 (GRCm39)	D815G	probably damaging	Het
Tnfsf11	A	T	14: 78,516,098 (GRCm39)	I290N	probably damaging	Het
Uba6	A	T	5: 86,300,544 (GRCm39)	N225K	probably benign	Het
Usp30	A	G	5: 114,238,524 (GRCm39)	T11A	probably benign	Het
Vmn1r5	T	G	6: 56,962,583 (GRCm39)	M86R	probably damaging	Het
Vmn2r26	T	A	6: 124,001,914 (GRCm39)	H66Q	probably benign	Het
Vps13d	T	C	4: 144,841,327 (GRCm39)	E2647G		Het
Wdr5b	T	A	16: 35,862,158 (GRCm39)	D92E	possibly damaging	Het
Zfp960	C	A	17: 17,308,623 (GRCm39)	R446S	probably benign	Het
Zscan20	C	T	4: 128,480,028 (GRCm39)	S821N	probably benign	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
R4806:Edem2	UTSW	2	155,570,913 (GRCm39)	missense	possibly damaging	0.56
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
R9072:Edem2	UTSW	2	155,571,212 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGCAATGCCAGCTTAGAGGTG -3'
(R):5'- AGACCGTGTTCTGCTCTGAC -3'

Sequencing Primer
(F):5'- CAGCTGAGAAGCGGGGTTC -3'
(R):5'- GTGTTCTGCTCTGACTCTCTTCTG -3'

Posted On

2020-01-23