Incidental Mutation 'R5207:Derl2'
ID 470614
Institutional Source Beutler Lab
Gene Symbol Derl2
Ensembl Gene ENSMUSG00000018442
Gene Name Der1-like domain family, member 2
Synonyms F-lana, CGI-101, Derlin-2, Flana
MMRRC Submission 042782-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5207 (G1)
Quality Score 121
Status Validated
Chromosome 11
Chromosomal Location 70898266-70910667 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 70910073 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000104163 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018586] [ENSMUST00000048807] [ENSMUST00000108523] [ENSMUST00000131340] [ENSMUST00000132198] [ENSMUST00000133413] [ENSMUST00000136137] [ENSMUST00000164220] [ENSMUST00000171041] [ENSMUST00000143762] [ENSMUST00000155236] [ENSMUST00000143850]
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: ENSMUST00000048807
SMART Domains Protein: ENSMUSP00000039500
Gene: ENSMUSG00000040599

DomainStartEndE-ValueType
Pfam:Mis12 8 141 4.2e-31 PFAM
coiled coil region 179 206 N/A INTRINSIC
Predicted Effect probably null
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 probably benign
Transcript: ENSMUST00000133413
Predicted Effect probably benign
Transcript: ENSMUST00000136137
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140712
Predicted Effect probably benign
Transcript: ENSMUST00000164220
SMART Domains Protein: ENSMUSP00000127782
Gene: ENSMUSG00000040599

DomainStartEndE-ValueType
Pfam:Mis12 8 156 2.5e-47 PFAM
coiled coil region 179 206 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171041
SMART Domains Protein: ENSMUSP00000127568
Gene: ENSMUSG00000018442

DomainStartEndE-ValueType
Pfam:DER1 1 129 4.2e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143762
Predicted Effect probably benign
Transcript: ENSMUST00000155236
Predicted Effect probably benign
Transcript: ENSMUST00000143850
SMART Domains Protein: ENSMUSP00000117052
Gene: ENSMUSG00000018442

DomainStartEndE-ValueType
Pfam:DER1 13 203 7.8e-72 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 97% (60/62)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 A T 1: 179,621,159 (GRCm39) probably benign Het
Alg6 C T 4: 99,607,431 (GRCm39) L15F possibly damaging Het
Allc T A 12: 28,605,325 (GRCm39) M325L probably benign Het
Ap3b2 T C 7: 81,126,517 (GRCm39) N361S possibly damaging Het
Bmp8b A G 4: 123,009,714 (GRCm39) probably benign Het
Borcs6 A T 11: 68,951,674 (GRCm39) T351S probably damaging Het
Ccar1 T C 10: 62,589,060 (GRCm39) R808G unknown Het
Celsr3 A T 9: 108,709,958 (GRCm39) T1480S probably benign Het
Chdh C T 14: 29,753,318 (GRCm39) P76S probably damaging Het
Chmp7 T C 14: 69,969,755 (GRCm39) S62G probably benign Het
Cldn23 A T 8: 36,293,182 (GRCm39) V102E probably damaging Het
Csn2 G A 5: 87,842,821 (GRCm39) Q69* probably null Het
Ctrc A C 4: 141,567,695 (GRCm39) I136S probably damaging Het
Cysltr2 A C 14: 73,266,951 (GRCm39) L253R probably damaging Het
Ddr2 G A 1: 169,812,530 (GRCm39) T654M probably damaging Het
Dnai7 A T 6: 145,124,794 (GRCm39) D510E probably damaging Het
Dock5 T C 14: 68,013,733 (GRCm39) S1330G probably benign Het
Emp3 T C 7: 45,569,373 (GRCm39) N56S probably benign Het
Fam161a A T 11: 22,970,583 (GRCm39) K195* probably null Het
Ficd T A 5: 113,875,072 (GRCm39) V47E probably benign Het
Garin3 T C 11: 46,295,990 (GRCm39) S121P probably benign Het
Gbp10 T C 5: 105,372,575 (GRCm39) T123A probably benign Het
Gdf7 C T 12: 8,348,371 (GRCm39) A309T unknown Het
Gm14486 G T 2: 30,548,572 (GRCm39) noncoding transcript Het
Herc1 T A 9: 66,307,151 (GRCm39) C990* probably null Het
Itgb4 T C 11: 115,897,365 (GRCm39) V1530A probably damaging Het
Itpka G A 2: 119,580,974 (GRCm39) R374H probably damaging Het
Lacc1 T A 14: 77,271,594 (GRCm39) probably null Het
Med23 A T 10: 24,771,734 (GRCm39) K225* probably null Het
Mrgpra3 T A 7: 47,239,909 (GRCm39) T6S probably benign Het
Mroh7 T A 4: 106,578,583 (GRCm39) N32Y probably damaging Het
Mrps2 A G 2: 28,359,763 (GRCm39) R207G probably damaging Het
Mup20 A C 4: 61,969,823 (GRCm39) probably null Het
Nagpa A G 16: 5,017,478 (GRCm39) probably null Het
Nek3 A T 8: 22,622,243 (GRCm39) probably benign Het
Nes G A 3: 87,885,935 (GRCm39) G1398E probably damaging Het
Nf1 G T 11: 79,345,015 (GRCm39) V1323L probably damaging Het
Or5b96 T A 19: 12,867,801 (GRCm39) I47F probably benign Het
Or6b2 A T 1: 92,407,594 (GRCm39) F250I probably benign Het
Or6c2 T C 10: 129,362,773 (GRCm39) F226L probably benign Het
Paqr8 G T 1: 21,005,482 (GRCm39) C212F probably benign Het
Pcdhb1 T C 18: 37,399,515 (GRCm39) Y489H probably damaging Het
Piwil2 T C 14: 70,629,966 (GRCm39) K683E probably damaging Het
Pjvk A C 2: 76,480,734 (GRCm39) probably null Het
Pkd1l3 A T 8: 110,359,823 (GRCm39) S893C probably damaging Het
Plxna2 A G 1: 194,471,207 (GRCm39) T993A probably benign Het
Ppp2r2b A T 18: 42,821,417 (GRCm39) I247N probably damaging Het
Rac2 T C 15: 78,449,654 (GRCm39) N92S probably damaging Het
Senp2 A T 16: 21,860,130 (GRCm39) H501L possibly damaging Het
Snx29 A T 16: 11,556,227 (GRCm39) I753F probably damaging Het
Tcf20 T A 15: 82,740,386 (GRCm39) H355L probably damaging Het
Tex2 T C 11: 106,437,666 (GRCm39) D668G unknown Het
Tlr12 G A 4: 128,510,502 (GRCm39) Q583* probably null Het
Tmem119 T C 5: 113,933,289 (GRCm39) I171V probably damaging Het
Ube2m C T 7: 12,770,249 (GRCm39) probably null Het
Vmn2r25 A T 6: 123,817,062 (GRCm39) I173N probably damaging Het
Whrn A T 4: 63,350,951 (GRCm39) V15E probably damaging Het
Zfp558 A C 9: 18,368,296 (GRCm39) V164G 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
IGL02727:Derl2 APN 11 70,904,036 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- AACCCGTTTTCTGAAGACGC -3'
(R):5'- GAGCCACTGCGATTGGTAAAAG -3'

Sequencing Primer
(F):5'- ACGCAGTCATAGCTAGCCTG -3'
(R):5'- GACGGAACTGGTCCTTCTC -3'
Posted On 2017-03-24