Incidental Mutation 'IGL01338:Derl2'
ID74704
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Derl2
Ensembl Gene ENSMUSG00000018442
Gene NameDer1-like domain family, member 2
SynonymsFlana, CGI-101, Derlin-2, F-lana
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01338
Quality Score
Status
Chromosome11
Chromosomal Location71007164-71019841 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 71010355 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 229 (F229S)
Ref Sequence ENSEMBL: ENSMUSP00000117052 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018586] [ENSMUST00000108523] [ENSMUST00000131340] [ENSMUST00000132198] [ENSMUST00000143850] [ENSMUST00000171041]
Predicted Effect probably benign
Transcript: ENSMUST00000018586
SMART Domains Protein: ENSMUSP00000136261
Gene: ENSMUSG00000018442

DomainStartEndE-ValueType
Pfam:DER1 13 82 2e-25 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000108523
AA Change: F229S

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000104163
Gene: ENSMUSG00000018442
AA Change: F229S

DomainStartEndE-ValueType
Pfam:DER1 13 203 5.3e-72 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131340
SMART Domains Protein: ENSMUSP00000135984
Gene: ENSMUSG00000018442

DomainStartEndE-ValueType
low complexity region 11 24 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132198
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140712
Predicted Effect possibly damaging
Transcript: ENSMUST00000143850
AA Change: F229S

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000117052
Gene: ENSMUSG00000018442
AA Change: F229S

DomainStartEndE-ValueType
Pfam:DER1 13 203 7.8e-72 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171041
AA Change: F155S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000127568
Gene: ENSMUSG00000018442
AA Change: F155S

DomainStartEndE-ValueType
Pfam:DER1 1 129 4.2e-46 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Proteins that are unfolded or misfolded in the endoplasmic reticulum (ER) must be refolded or degraded to maintain the homeostasis of the ER. DERL2 is involved in the degradation of misfolded glycoproteins in the ER (Oda et al., 2006 [PubMed 16449189]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial neonatal lethality with surviving mice exhibiting male sterility, inverted rib cage, abnormal chondrocytes in the ribs, lethality during pregancy, cachexia, and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004E09Rik T C 16: 90,926,048 N266S possibly damaging Het
Adam23 A G 1: 63,551,855 T494A possibly damaging Het
Adamts16 C T 13: 70,836,115 C143Y probably damaging Het
Cacna1i A G 15: 80,348,380 I195V probably damaging Het
Casp7 T C 19: 56,404,464 S17P probably benign Het
Cox6a1 C A 5: 115,345,839 probably benign Het
Cpvl T A 6: 53,974,655 S48C possibly damaging Het
Cyp2b19 G T 7: 26,759,417 M138I probably benign Het
Dennd5a T C 7: 109,919,404 Y510C possibly damaging Het
Dlec1 A G 9: 119,120,911 E452G probably damaging Het
Dsc2 T C 18: 20,047,157 K180E probably benign Het
Dus1l G A 11: 120,793,092 R177C possibly damaging Het
Egfr A G 11: 16,863,020 I167V probably damaging Het
Fam219b A T 9: 57,538,022 probably null Het
Fn1 T C 1: 71,626,210 E916G probably damaging Het
Gm2058 C T 7: 39,589,156 noncoding transcript Het
Gpd1 T A 15: 99,718,175 V22E probably damaging Het
Hsf2 T C 10: 57,501,379 F124L probably damaging Het
I0C0044D17Rik A G 4: 98,820,099 probably benign Het
Igfbp3 A T 11: 7,208,478 F262I possibly damaging Het
Klhl18 A G 9: 110,455,433 Y62H probably damaging Het
Lama2 C T 10: 27,188,272 E1238K probably benign Het
Man1b1 A G 2: 25,338,227 K170E probably benign Het
Mcrs1 A T 15: 99,249,501 I39N probably damaging Het
Mug2 T C 6: 122,049,628 probably benign Het
Neu3 C A 7: 99,813,422 G365W probably damaging Het
Nipal3 A C 4: 135,471,883 probably null Het
Nrxn3 A G 12: 89,255,034 I528V possibly damaging Het
Olfr122 A T 17: 37,771,839 H71L possibly damaging Het
Osbpl8 A G 10: 111,267,747 K204R probably damaging Het
Pax8 A G 2: 24,435,919 S318P possibly damaging Het
Pcdh18 T A 3: 49,756,141 N242Y probably damaging Het
Pkd1l2 T A 8: 117,059,520 K649* probably null Het
Ppm1n A T 7: 19,279,254 D257E probably benign Het
Pxdn A G 12: 30,002,797 E811G probably damaging Het
Relb T C 7: 19,616,373 I218V probably benign Het
Rreb1 T C 13: 37,931,034 C790R probably benign Het
Rtkn2 G T 10: 68,025,519 C258F possibly damaging Het
Scn11a G A 9: 119,784,161 probably benign Het
Snx8 G A 5: 140,358,096 R96C probably damaging Het
Syne2 A T 12: 76,060,226 T5649S possibly damaging Het
Tm2d3 T A 7: 65,695,222 C82* probably null Het
Tnpo2 T C 8: 85,040,526 L55P probably damaging Het
Tsc22d2 T C 3: 58,417,415 probably benign Het
Ttll3 T G 6: 113,394,729 V19G probably damaging Het
Ube2r2 A G 4: 41,174,119 I86V probably benign Het
Vps13d G A 4: 145,088,322 T3153I probably damaging Het
Wwp1 A G 4: 19,627,636 I753T probably damaging Het
Other mutations in Derl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00803:Derl2 APN 11 71013454 missense probably benign 0.31
IGL02727:Derl2 APN 11 71013210 splice site probably benign
R0394:Derl2 UTSW 11 71014561 missense probably benign
R0751:Derl2 UTSW 11 71014547 splice site probably null
R1507:Derl2 UTSW 11 71007345 missense probably benign
R1860:Derl2 UTSW 11 71018343 missense probably damaging 1.00
R5138:Derl2 UTSW 11 71014564 nonsense probably null
R5207:Derl2 UTSW 11 71019247 unclassified probably null
R5965:Derl2 UTSW 11 71014552 missense probably benign 0.00
Posted On2013-10-07