Incidental Mutation 'R5574:Edem2'
ID437093
Institutional Source Beutler Lab
Gene Symbol Edem2
Ensembl Gene ENSMUSG00000038312
Gene NameER degradation enhancer, mannosidase alpha-like 2
Synonyms
MMRRC Submission 043129-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.898) question?
Stock #R5574 (G1)
Quality Score225
Status Validated
Chromosome2
Chromosomal Location155701677-155729475 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 155716155 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 186 (E186G)
Ref Sequence ENSEMBL: ENSMUSP00000041202 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040833]
Predicted Effect probably damaging
Transcript: ENSMUST00000040833
AA Change: E186G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041202
Gene: ENSMUSG00000038312
AA Change: E186G

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Glyco_hydro_47 42 482 8.3e-118 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139868
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148571
Meta Mutation Damage Score 0.6811 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.6%
Validation Efficiency 99% (68/69)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik T A 14: 59,142,756 N31I possibly damaging Het
3110002H16Rik CTGTGTGTT CTGTGTGTTGTGTGTT 18: 12,185,006 probably null Het
Acvr1b T A 15: 101,202,077 M304K probably benign Het
Adamts1 G T 16: 85,799,642 D106E probably damaging Het
Blm C A 7: 80,499,773 C696F probably damaging Het
Bnip3l-ps T A 12: 18,217,118 noncoding transcript Het
C87499 T G 4: 88,628,043 E354A probably benign Het
Ccdc171 A T 4: 83,693,753 N895I probably damaging Het
Cdhr4 A T 9: 107,993,328 probably benign Het
Cfap97 T C 8: 46,170,142 S190P probably damaging Het
Chrnb1 A C 11: 69,793,683 probably benign Het
Clns1a A G 7: 97,720,958 probably benign Het
Col8a2 G A 4: 126,311,268 probably benign Het
Cr2 T A 1: 195,141,236 E721V probably damaging Het
Csk A G 9: 57,629,301 V172A probably benign Het
Cyp2g1 G A 7: 26,820,740 V466M possibly damaging Het
Cyp4f13 A G 17: 32,929,205 Y349H probably benign Het
Dnm1l T C 16: 16,329,821 Y205C probably damaging Het
Dync1i2 A T 2: 71,233,650 T113S probably benign Het
Eya2 G A 2: 165,763,816 R380H probably damaging Het
Fam214a A T 9: 75,010,390 D757V probably damaging Het
Fam60a C T 6: 148,944,880 probably benign Het
Gldn A G 9: 54,312,922 T132A probably damaging Het
Gm13941 A T 2: 111,100,606 I74K unknown Het
Gm3898 C T 9: 43,830,042 noncoding transcript Het
Ighmbp2 C T 19: 3,271,536 V408I probably benign Het
Klhdc10 C T 6: 30,439,865 L127F possibly damaging Het
Letm1 G A 5: 33,769,386 T189M possibly damaging Het
Lrrc17 A T 5: 21,570,357 I306F possibly damaging Het
Lrrk2 T A 15: 91,787,016 V2000E probably damaging Het
Mettl9 A T 7: 121,047,870 E66D probably benign Het
Mroh1 T A 15: 76,433,931 V877D probably benign Het
Mycbp2 C T 14: 103,142,767 V3760M possibly damaging Het
Nos3 A G 5: 24,368,861 T208A possibly damaging Het
Npdc1 G A 2: 25,408,945 D284N probably damaging Het
Obp2a A T 2: 25,700,830 T70S possibly damaging Het
Olfr1040 T C 2: 86,146,191 D181G probably damaging Het
Olfr1100 A G 2: 86,978,523 V91A probably benign Het
Olfr1245 C T 2: 89,574,977 V250I possibly damaging Het
Olfr145 A T 9: 37,897,581 Y59F probably damaging Het
Olfr69 T G 7: 103,768,116 I94L possibly damaging Het
Pate2 A G 9: 35,686,115 probably benign Het
Pdzph1 A G 17: 58,973,947 F447L probably benign Het
Pias1 A G 9: 62,920,493 C211R probably damaging Het
Plb1 A G 5: 32,329,947 S929G probably benign Het
Prc1 G A 7: 80,294,542 probably benign Het
Prex2 A G 1: 11,140,058 D574G probably damaging Het
Rapgef4 G A 2: 72,034,120 probably null Het
Rock2 T C 12: 16,961,641 M690T possibly damaging Het
Slc18a2 A G 19: 59,261,405 I25V probably benign Het
Slc9a5 T A 8: 105,364,691 I701K probably benign Het
Sorcs1 T A 19: 50,222,133 N765Y probably damaging Het
Ssh2 A T 11: 77,450,115 I698L probably benign Het
Stam A G 2: 14,115,864 D58G probably damaging Het
Thsd4 C A 9: 59,972,400 R1018L probably damaging Het
Tnxb A G 17: 34,711,024 T2911A probably benign Het
Trpm7 A C 2: 126,813,030 F1329L probably benign Het
Ttll9 A G 2: 152,984,248 E126G possibly damaging Het
Tubgcp5 G A 7: 55,805,329 V258M probably benign Het
Unc45a G A 7: 80,334,856 A232V probably damaging Het
Utp14b G A 1: 78,666,409 V675M probably damaging Het
Vmn2r67 T A 7: 85,151,891 H279L probably benign Het
Vmn2r75 G T 7: 86,166,302 A118E probably benign Het
Wdr36 A T 18: 32,865,959 Q886L probably damaging Het
Zfp433 T A 10: 81,719,291 Y27* probably null Het
Zfp715 A T 7: 43,311,039 S43T possibly damaging Het
Zfyve26 A G 12: 79,239,924 S2297P possibly damaging Het
Other mutations in Edem2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01141:Edem2 APN 2 155709028 missense probably benign 0.01
IGL01417:Edem2 APN 2 155728978 missense probably damaging 1.00
IGL02043:Edem2 APN 2 155705741 missense probably damaging 1.00
IGL02403:Edem2 APN 2 155709063 missense possibly damaging 0.81
R0488:Edem2 UTSW 2 155716123 missense probably damaging 1.00
R1312:Edem2 UTSW 2 155702585 missense probably damaging 0.99
R1547:Edem2 UTSW 2 155722516 missense probably damaging 1.00
R2092:Edem2 UTSW 2 155709049 missense probably benign 0.03
R2114:Edem2 UTSW 2 155702559 missense probably damaging 1.00
R2250:Edem2 UTSW 2 155710973 splice site probably null
R2268:Edem2 UTSW 2 155702217 missense probably benign
R2287:Edem2 UTSW 2 155713359 missense probably benign
R2919:Edem2 UTSW 2 155709027 missense probably damaging 1.00
R4730:Edem2 UTSW 2 155705698 missense possibly damaging 0.96
R4806:Edem2 UTSW 2 155728993 missense possibly damaging 0.56
R6714:Edem2 UTSW 2 155728889 critical splice donor site probably null
R6913:Edem2 UTSW 2 155726674 missense probably damaging 1.00
R7016:Edem2 UTSW 2 155716072 missense possibly damaging 0.77
R7234:Edem2 UTSW 2 155710966 missense probably benign 0.19
R8063:Edem2 UTSW 2 155702456 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGGGCTCACACAAGAAATCC -3'
(R):5'- TTAGGCAGTTCAGGGTCCTG -3'

Sequencing Primer
(F):5'- TCCAAGAGCTGACCTACCAG -3'
(R):5'- TTCAGGGTCCTGCAATGAGAC -3'
Posted On2016-10-26