Incidental Mutation 'R0488:Edem2'
ID42394
Institutional Source Beutler Lab
Gene Symbol Edem2
Ensembl Gene ENSMUSG00000038312
Gene NameER degradation enhancer, mannosidase alpha-like 2
Synonyms
MMRRC Submission 038687-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.898) question?
Stock #R0488 (G1)
Quality Score207
Status Validated
Chromosome2
Chromosomal Location155701677-155729475 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 155716123 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 197 (T197A)
Ref Sequence ENSEMBL: ENSMUSP00000041202 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040833]
Predicted Effect probably damaging
Transcript: ENSMUST00000040833
AA Change: T197A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041202
Gene: ENSMUSG00000038312
AA Change: T197A

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 0.9583 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 98.9%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 100% (54/54)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam19 T G 11: 46,138,930 L734R probably damaging Het
Adgrf1 T C 17: 43,310,411 I513T probably damaging Het
Adgrl2 A G 3: 148,846,905 V654A probably damaging Het
Agl A T 3: 116,754,962 Y1249* probably null Het
Ankar T A 1: 72,658,732 Q996H probably damaging Het
Aqp12 T C 1: 93,008,656 Y235H probably damaging Het
Arsb T C 13: 93,940,505 V460A probably benign Het
Baiap3 A G 17: 25,248,470 probably null Het
Cd44 T C 2: 102,834,219 probably benign Het
Clec4b1 T A 6: 123,071,482 I192N probably damaging Het
Cps1 A C 1: 67,148,808 probably benign Het
Dab2 T C 15: 6,424,654 L215S probably damaging Het
E2f4 G A 8: 105,298,539 V84I probably damaging Het
Eno2 T A 6: 124,763,874 M121L probably benign Het
Ephb1 A G 9: 101,964,008 V757A probably damaging Het
Etv5 T A 16: 22,412,945 I106F probably damaging Het
Foxj3 T A 4: 119,619,990 Y298* probably null Het
Gm12185 A G 11: 48,907,839 L609S probably damaging Het
Gm5884 T C 6: 128,646,068 noncoding transcript Het
Havcr1 A G 11: 46,752,571 Y106C probably damaging Het
Jmjd1c A G 10: 67,240,727 N2110S probably damaging Het
Kif2b T C 11: 91,576,972 K162E probably benign Het
Micu2 T C 14: 57,932,242 Y217C probably benign Het
Mink1 G T 11: 70,597,204 G32C probably damaging Het
Mnat1 T A 12: 73,170,639 N96K probably damaging Het
Mpp2 G T 11: 102,061,601 R349S possibly damaging Het
Mrpl13 T A 15: 55,539,148 I59F probably benign Het
Mybl2 T C 2: 163,072,614 probably benign Het
Otogl T C 10: 107,803,605 E1382G probably benign Het
Pclo A G 5: 14,669,299 E1150G unknown Het
Pkd1l3 C G 8: 109,623,649 D375E possibly damaging Het
Pkd1l3 G A 8: 109,623,663 S380N probably benign Het
Pla2g4a G A 1: 149,871,445 T322M probably damaging Het
Pramef6 A T 4: 143,895,403 Y461N probably benign Het
Prpsap2 A G 11: 61,741,000 I177T possibly damaging Het
Ptprg A T 14: 12,220,653 D455V probably damaging Het
Ptprt T C 2: 161,553,825 T1162A probably damaging Het
Rad51ap1 T C 6: 126,934,760 N55D possibly damaging Het
Rc3h2 T C 2: 37,389,588 E543G probably damaging Het
Rimklb G A 6: 122,460,975 T103I probably benign Het
Rsg1 A G 4: 141,214,401 D14G probably benign Het
Samd4b T C 7: 28,414,237 Y101C probably damaging Het
Snrnp40 C G 4: 130,378,043 probably null Het
Tubgcp5 T A 7: 55,829,338 S979T probably damaging Het
Vmn2r93 G A 17: 18,326,049 E728K probably damaging Het
Wdr17 T C 8: 54,693,052 probably benign Het
Wdr90 T C 17: 25,848,617 Y1457C probably damaging Het
Wsb1 T C 11: 79,244,500 D225G probably damaging Het
Xirp2 T C 2: 67,514,821 S2469P possibly damaging Het
Zeb1 T A 18: 5,772,455 C915S probably damaging Het
Znfx1 C A 2: 167,042,563 R923L 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
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
R5574:Edem2 UTSW 2 155716155 missense probably damaging 1.00
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'- GGACCACACCTACAATCGCTGTAAG -3'
(R):5'- ACTCAGTTATCCGCCAGGCTTTG -3'

Sequencing Primer
(F):5'- AGACCTCTGGGTCTCATAAATGG -3'
(R):5'- CCCAAGGTATAGTGTTTGACAGC -3'
Posted On2013-05-23