Incidental Mutation 'IGL02727:Derl2'
ID 305282
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Derl2
Ensembl Gene ENSMUSG00000018442
Gene Name Der1-like domain family, member 2
Synonyms F-lana, CGI-101, Derlin-2, Flana
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02727
Quality Score
Status
Chromosome 11
Chromosomal Location 70898266-70910667 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to C at 70904036 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018586] [ENSMUST00000108523] [ENSMUST00000131340] [ENSMUST00000132198] [ENSMUST00000143850] [ENSMUST00000171041]
AlphaFold Q8BNI4
Predicted Effect probably benign
Transcript: ENSMUST00000018586
SMART Domains Protein: ENSMUSP00000136261
Gene: ENSMUSG00000018442

DomainStartEndE-ValueType
Pfam:DER1 13 82 2e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108523
SMART Domains Protein: ENSMUSP00000104163
Gene: ENSMUSG00000018442

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 probably benign
Transcript: ENSMUST00000143850
SMART Domains Protein: ENSMUSP00000117052
Gene: ENSMUSG00000018442

DomainStartEndE-ValueType
Pfam:DER1 13 203 7.8e-72 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171041
SMART Domains Protein: ENSMUSP00000127568
Gene: ENSMUSG00000018442

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik T C 1: 53,226,724 (GRCm39) T13A probably benign Het
Aldh1l2 T A 10: 83,342,469 (GRCm39) K447I probably damaging Het
Ankrd17 A G 5: 90,392,151 (GRCm39) S1840P possibly damaging Het
Ash1l A G 3: 88,930,344 (GRCm39) I1940M probably benign Het
Bfar T G 16: 13,506,791 (GRCm39) probably null Het
Bicra G T 7: 15,713,390 (GRCm39) H937Q possibly damaging Het
Brip1 A T 11: 86,043,562 (GRCm39) M334K probably benign Het
Camsap2 T G 1: 136,232,050 (GRCm39) M182L probably benign Het
Chd6 A T 2: 160,811,383 (GRCm39) C1407S probably damaging Het
Cmya5 A G 13: 93,234,753 (GRCm39) S112P possibly damaging Het
Csmd1 A T 8: 16,281,341 (GRCm39) V728E probably damaging Het
Cyp2j6 T A 4: 96,434,001 (GRCm39) Q103L probably benign Het
Ddias A T 7: 92,515,830 (GRCm39) I21K probably damaging Het
Dgka A T 10: 128,558,317 (GRCm39) probably benign Het
Dusp11 T C 6: 85,938,474 (GRCm39) D15G probably damaging Het
Enpp2 T C 15: 54,773,577 (GRCm39) D110G probably damaging Het
Fkbp11 A T 15: 98,622,471 (GRCm39) V134E probably damaging Het
Gm3248 T C 14: 5,945,036 (GRCm38) T49A probably damaging Het
Gm57858 T A 3: 36,087,065 (GRCm39) R176S possibly damaging Het
Irag2 T C 6: 145,120,344 (GRCm39) S520P possibly damaging Het
Luzp2 T C 7: 54,821,939 (GRCm39) probably benign Het
Manea C A 4: 26,328,127 (GRCm39) E305* probably null Het
Manea T A 4: 26,328,126 (GRCm39) E305V probably damaging Het
Megf6 A G 4: 154,337,606 (GRCm39) probably null Het
Mrpl3 G T 9: 104,931,726 (GRCm39) D59Y probably damaging Het
Myh9 T C 15: 77,675,942 (GRCm39) Y248C probably benign Het
Nbeal2 G A 9: 110,468,353 (GRCm39) probably benign Het
Or10a5 G T 7: 106,635,902 (GRCm39) C180F probably damaging Het
Or1f19 T A 16: 3,411,190 (GRCm39) I310K probably benign Het
Or2y1c G T 11: 49,361,893 (GRCm39) G305V probably benign Het
Or8b40 A G 9: 38,027,808 (GRCm39) T239A probably damaging Het
Pax8 C A 2: 24,331,642 (GRCm39) C147F probably damaging Het
Phf12 T C 11: 77,914,493 (GRCm39) V96A possibly damaging Het
Psg18 A T 7: 18,079,875 (GRCm39) I442K probably damaging Het
Pygl T A 12: 70,254,442 (GRCm39) probably null Het
Rassf2 C A 2: 131,846,307 (GRCm39) R150L probably benign Het
Rdh7 A T 10: 127,723,487 (GRCm39) W123R probably damaging Het
Saal1 T C 7: 46,339,223 (GRCm39) probably null Het
Sall1 T C 8: 89,757,383 (GRCm39) D907G probably damaging Het
Spag1 T A 15: 36,234,964 (GRCm39) F876I probably damaging Het
Syncrip G A 9: 88,361,932 (GRCm39) A61V probably damaging Het
Trbv3 A T 6: 41,025,576 (GRCm39) K55N probably benign Het
Vmn1r178 A G 7: 23,593,871 (GRCm39) probably null Het
Vmn2r84 T C 10: 130,229,995 (GRCm39) D39G possibly damaging Het
Other mutations in Derl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00803:Derl2 APN 11 70,904,280 (GRCm39) missense probably benign 0.31
IGL01338:Derl2 APN 11 70,901,181 (GRCm39) missense possibly damaging 0.61
R0394:Derl2 UTSW 11 70,905,387 (GRCm39) missense probably benign
R0751:Derl2 UTSW 11 70,905,373 (GRCm39) splice site probably null
R1507:Derl2 UTSW 11 70,898,171 (GRCm39) missense probably benign
R1860:Derl2 UTSW 11 70,909,169 (GRCm39) missense probably damaging 1.00
R5138:Derl2 UTSW 11 70,905,390 (GRCm39) nonsense probably null
R5207:Derl2 UTSW 11 70,910,073 (GRCm39) splice site probably null
R5965:Derl2 UTSW 11 70,905,378 (GRCm39) missense probably benign 0.00
R7385:Derl2 UTSW 11 70,909,764 (GRCm39) intron probably benign
R8473:Derl2 UTSW 11 70,910,035 (GRCm39) missense probably damaging 1.00
R9176:Derl2 UTSW 11 70,904,376 (GRCm39) missense possibly damaging 0.89
Posted On 2015-04-16