Incidental Mutation 'R2268:Edem2'
ID 242205
Institutional Source Beutler Lab
Gene Symbol Edem2
Ensembl Gene ENSMUSG00000038312
Gene Name ER degradation enhancer, mannosidase alpha-like 2
Synonyms 9530090G24Rik
MMRRC Submission 040268-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.887) question?
Stock # R2268 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 155543597-155571395 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 155544137 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 538 (P538S)
Ref Sequence ENSEMBL: ENSMUSP00000041202 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040833]
AlphaFold Q8BJT9
Predicted Effect probably benign
Transcript: ENSMUST00000040833
AA Change: P538S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000041202
Gene: ENSMUSG00000038312
AA Change: P538S

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Glyco_hydro_47 42 482 8.3e-118 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148571
Meta Mutation Damage Score 0.0597 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (82/82)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox2 A T 14: 8,253,496 (GRCm38) M217K probably damaging Het
Adam34 C T 8: 44,103,647 (GRCm39) R666H probably benign Het
Adap2 G T 11: 80,056,552 (GRCm39) Q188H probably damaging Het
Adgrb3 T C 1: 25,150,898 (GRCm39) T872A possibly damaging Het
Ahnak A G 19: 8,987,938 (GRCm39) K3074R possibly damaging Het
Ano7 A T 1: 93,308,161 (GRCm39) D64V possibly damaging Het
Apob T C 12: 8,065,475 (GRCm39) F4115S possibly damaging Het
Arl13a A G X: 133,106,162 (GRCm39) Q236R possibly damaging Het
Astn1 T C 1: 158,329,669 (GRCm39) Y175H probably damaging Het
Atn1 C G 6: 124,723,203 (GRCm39) probably benign Het
Ccser1 C T 6: 61,547,827 (GRCm39) T118M probably damaging Het
Cenpe A G 3: 134,967,397 (GRCm39) T2180A probably benign Het
Col17a1 G A 19: 47,638,550 (GRCm39) P1173S probably benign Het
Commd8 A G 5: 72,322,765 (GRCm39) W51R probably damaging Het
Cyp4f17 G T 17: 32,736,928 (GRCm39) V87F probably benign Het
D2hgdh C T 1: 93,763,157 (GRCm39) A314V probably damaging Het
Dcun1d4 T A 5: 73,638,618 (GRCm39) probably benign Het
Dhodh A G 8: 110,321,306 (GRCm39) F360S possibly damaging Het
Dipk2b A G X: 18,289,926 (GRCm39) S179P possibly damaging Het
Dynap C T 18: 70,374,218 (GRCm39) A103T probably benign Het
Egfl8 C T 17: 34,832,832 (GRCm39) V253M probably damaging Het
Erich6 A T 3: 58,526,260 (GRCm39) S581T probably benign Het
Fam117b T C 1: 59,952,789 (GRCm39) L156P probably damaging Het
Fbn1 G T 2: 125,163,661 (GRCm39) A2065E possibly damaging Het
Foxn4 T C 5: 114,393,662 (GRCm39) T486A probably damaging Het
Fzd9 A G 5: 135,279,148 (GRCm39) S246P probably damaging Het
Hdhd2 C T 18: 77,052,866 (GRCm39) T172M probably benign Het
Heatr5a T C 12: 51,940,528 (GRCm39) D1444G possibly damaging Het
Hmcn1 A G 1: 150,500,349 (GRCm39) probably benign Het
Hps3 G A 3: 20,067,099 (GRCm39) probably benign Het
Hr A T 14: 70,795,547 (GRCm39) D393V probably benign Het
Ido2 T C 8: 25,025,268 (GRCm39) Y253C probably damaging Het
Irs2 T C 8: 11,057,586 (GRCm39) E282G probably damaging Het
Itih4 A G 14: 30,614,385 (GRCm39) D445G probably damaging Het
Kif14 T A 1: 136,447,486 (GRCm39) C1430* probably null Het
Kir3dl1 A G X: 135,425,784 (GRCm39) R53G probably benign Het
Lama2 T A 10: 26,868,932 (GRCm39) I2838F probably damaging Het
Lamb1 A T 12: 31,377,644 (GRCm39) I1630F probably damaging Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Magi3 G A 3: 103,928,382 (GRCm39) probably benign Het
Mink1 G A 11: 70,492,550 (GRCm39) probably null Het
Mmrn2 A G 14: 34,121,449 (GRCm39) K773R probably benign Het
Mpdz A G 4: 81,301,628 (GRCm39) S266P probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mtbp G A 15: 55,432,556 (GRCm39) probably null Het
Mybphl A G 3: 108,272,317 (GRCm39) E2G probably damaging Het
Myoc C T 1: 162,476,625 (GRCm39) T443M probably damaging Het
Nav1 A T 1: 135,399,974 (GRCm39) L532* probably null Het
Nbeal1 T A 1: 60,370,037 (GRCm39) probably benign Het
Nfix CAAAAA CAAAA 8: 85,442,876 (GRCm39) probably null Het
Opcml T C 9: 28,814,651 (GRCm39) I301T possibly damaging Het
Or10ak16 A T 4: 118,751,071 (GRCm39) R264W probably damaging Het
Or8b1 T A 9: 38,399,504 (GRCm39) Y60N probably damaging Het
Pappa2 A G 1: 158,684,841 (GRCm39) M766T probably damaging Het
Phf8 T C X: 150,355,597 (GRCm39) L520S possibly damaging Het
Phka1 A G X: 101,584,716 (GRCm39) probably benign Het
Ppp2ca G A 11: 52,008,913 (GRCm39) G138R probably damaging Het
Prrc1 G T 18: 57,514,718 (GRCm39) D312Y probably damaging Het
Rdh7 A G 10: 127,720,530 (GRCm39) S281P probably benign Het
Rps17 C T 7: 80,994,746 (GRCm39) R5H probably benign Het
Scgb1b2 T A 7: 30,991,201 (GRCm39) probably benign Het
Skic3 T G 13: 76,260,393 (GRCm39) probably benign Het
Slc35a3 T C 3: 116,467,285 (GRCm39) K325E possibly damaging Het
Snap23 A G 2: 120,429,793 (GRCm39) T213A probably benign Het
Spag17 C A 3: 99,969,182 (GRCm39) probably null Het
Srebf1 A G 11: 60,097,973 (GRCm39) S44P probably damaging Het
St8sia5 T C 18: 77,320,526 (GRCm39) S93P probably damaging Het
Styk1 T C 6: 131,289,539 (GRCm39) E25G probably benign Het
Taar8b T C 10: 23,967,270 (GRCm39) N308S probably damaging Het
Tbc1d14 A G 5: 36,700,561 (GRCm39) L269P possibly damaging Het
Tbc1d22b A G 17: 29,818,828 (GRCm39) H394R probably damaging Het
Tbx5 A T 5: 119,983,174 (GRCm39) probably null Het
Tgfbr3l A G 8: 4,300,506 (GRCm39) E228G probably benign Het
Tlr5 T A 1: 182,802,600 (GRCm39) S635T possibly damaging Het
Tmem233 G C 5: 116,189,517 (GRCm39) probably benign Het
Tymp A T 15: 89,258,011 (GRCm39) V378D probably damaging Het
Vangl1 A T 3: 102,104,160 (GRCm39) Y7N probably damaging Het
Vav2 A T 2: 27,182,667 (GRCm39) probably null Het
Vcp G A 4: 42,980,833 (GRCm39) A759V possibly damaging Het
Vmn2r15 A G 5: 109,441,073 (GRCm39) Y262H probably benign Het
Vmn2r76 T C 7: 85,879,707 (GRCm39) M198V probably benign Het
Zfp831 A C 2: 174,486,034 (GRCm39) R236S probably benign Het
Other mutations in Edem2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GCATGTAAAACCTGATAGCCAAAAG -3'
(R):5'- CATCTTCAACACGGAGGCTCAC -3'

Sequencing Primer
(F):5'- GCCAAAAGCAGATTTATTATTAGAGC -3'
(R):5'- GAGGCTCACCCCATTGAC -3'
Posted On 2014-10-16