Incidental Mutation 'R5965:Derl2'
ID 501711
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 044150-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5965 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 70898266-70910667 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70905378 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 109 (T109A)
Ref Sequence ENSEMBL: ENSMUSP00000117052 (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
AA Change: T109A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000104163
Gene: ENSMUSG00000018442
AA Change: T109A

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
AA Change: T109A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000117052
Gene: ENSMUSG00000018442
AA Change: T109A

DomainStartEndE-ValueType
Pfam:DER1 13 203 7.8e-72 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171041
AA Change: T35A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000127568
Gene: ENSMUSG00000018442
AA Change: T35A

DomainStartEndE-ValueType
Pfam:DER1 1 129 4.2e-46 PFAM
Meta Mutation Damage Score 0.2141 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.1%
Validation Efficiency 98% (80/82)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf3 T A 5: 30,410,637 (GRCm39) T23S probably benign Het
Armc2 A G 10: 41,798,568 (GRCm39) I747T possibly damaging Het
Cacna1c T A 6: 118,579,261 (GRCm39) H1729L probably damaging Het
Crebbp A G 16: 3,905,525 (GRCm39) probably benign Het
Cyp4f17 T A 17: 32,743,611 (GRCm39) M326K probably damaging Het
Dchs1 T G 7: 105,405,132 (GRCm39) D2470A probably damaging Het
Ddhd2 T C 8: 26,225,804 (GRCm39) T518A probably damaging Het
Dnah7b T C 1: 46,402,147 (GRCm39) L3994P probably damaging Het
Dock10 T C 1: 80,546,461 (GRCm39) probably null Het
Dync1h1 T A 12: 110,599,212 (GRCm39) S1856T probably benign Het
Ehd2 T C 7: 15,685,999 (GRCm39) K358E possibly damaging Het
Enpp2 A G 15: 54,746,367 (GRCm39) probably null Het
Esco1 T C 18: 10,593,867 (GRCm39) E473G possibly damaging Het
Exoc5 A G 14: 49,272,388 (GRCm39) F342S probably damaging Het
Fam186a T A 15: 99,842,978 (GRCm39) T1089S probably benign Het
Fanca T C 8: 124,043,149 (GRCm39) D79G possibly damaging Het
Gabrb2 A G 11: 42,517,696 (GRCm39) Y506C probably damaging Het
Galntl6 T C 8: 58,310,565 (GRCm39) T379A probably benign Het
Garin2 T A 12: 78,757,080 (GRCm39) N12K unknown Het
Gm34768 A G 2: 11,913,316 (GRCm39) noncoding transcript Het
Gps2 A G 11: 69,805,620 (GRCm39) E46G possibly damaging Het
Gsdmc T C 15: 63,676,447 (GRCm39) probably null Het
Gys1 C T 7: 45,104,763 (GRCm39) T666I probably benign Het
Hsd17b11 T A 5: 104,169,651 (GRCm39) probably benign Het
Iffo1 T A 6: 125,129,471 (GRCm39) probably benign Het
Ighv1-51 T C 12: 115,095,177 (GRCm39) noncoding transcript Het
Kansl3 T A 1: 36,384,601 (GRCm39) probably null Het
Kdm3a A G 6: 71,598,364 (GRCm39) I174T probably benign Het
Klhl26 A T 8: 70,905,381 (GRCm39) D95E probably damaging Het
Lair1 T C 7: 4,032,023 (GRCm39) D28G possibly damaging Het
Lama3 A G 18: 12,562,944 (GRCm39) D489G possibly damaging Het
Lamb3 A T 1: 193,025,768 (GRCm39) I1153F probably damaging Het
Lsp1 T A 7: 142,044,161 (GRCm39) probably null Het
Man1a A G 10: 53,809,586 (GRCm39) probably benign Het
Mcam A C 9: 44,047,925 (GRCm39) S57R probably damaging Het
Mrgprf C A 7: 144,861,168 (GRCm39) probably benign Het
Nfia T C 4: 97,999,529 (GRCm39) *499Q probably null Het
Nmbr C A 10: 14,642,554 (GRCm39) R38S probably benign Het
Or12e7 T G 2: 87,288,381 (GRCm39) F291V probably benign Het
Or51a25 C A 7: 102,373,467 (GRCm39) V77L probably benign Het
Or5h23 T C 16: 58,906,666 (GRCm39) Y60C probably damaging Het
P3h1 C T 4: 119,105,424 (GRCm39) H741Y probably benign Het
Parp4 A T 14: 56,861,489 (GRCm39) M941L probably benign Het
Phaf1 T C 8: 105,961,171 (GRCm39) F69L probably damaging Het
Pik3c3 C T 18: 30,431,633 (GRCm39) T331M probably damaging Het
Prkg1 T C 19: 30,701,556 (GRCm39) probably null Het
Qsox2 A T 2: 26,112,233 (GRCm39) V103D probably benign Het
Ranbp1 T C 16: 18,063,092 (GRCm39) T95A probably damaging Het
Ric1 G A 19: 29,548,171 (GRCm39) D280N probably damaging Het
Scd1 A G 19: 44,388,579 (GRCm39) probably null Het
Serpinb3c A G 1: 107,204,653 (GRCm39) I31T probably benign Het
Slc7a11 T A 3: 50,333,593 (GRCm39) Y386F probably benign Het
Smtnl2 A T 11: 72,291,279 (GRCm39) probably null Het
Snx2 G T 18: 53,327,534 (GRCm39) E87* probably null Het
Tars2 A C 3: 95,655,464 (GRCm39) probably null Het
Tax1bp1 C A 6: 52,706,317 (GRCm39) T106N probably damaging Het
Tcof1 A G 18: 60,966,490 (GRCm39) probably null Het
Tenm3 C A 8: 48,681,543 (GRCm39) E2680* probably null Het
Thap7 C T 16: 17,348,611 (GRCm39) probably benign Het
Thoc6 T A 17: 23,889,842 (GRCm39) I23F possibly damaging Het
Tmem185b T G 1: 119,454,294 (GRCm39) Y18* probably null Het
Trav6-1 A C 14: 52,876,254 (GRCm39) Y58S probably damaging Het
Trbv16 A T 6: 41,128,989 (GRCm39) I58F probably benign Het
Ubtfl1 T A 9: 18,320,838 (GRCm39) M122K probably benign Het
Vps13a T C 19: 16,596,392 (GRCm39) probably null Het
Zdhhc24 T G 19: 4,933,778 (GRCm39) D278E probably benign Het
Zfp316 T C 5: 143,250,427 (GRCm39) probably null Het
Zfyve9 T C 4: 108,548,878 (GRCm39) T769A possibly damaging Het
Znhit6 T A 3: 145,284,103 (GRCm39) N96K 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
R5207:Derl2 UTSW 11 70,910,073 (GRCm39) splice site probably null
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'- TCCACCTGGGTTGAAACTTCTC -3'
(R):5'- GCCCAAGTATGTTTCAGTGGTTC -3'

Sequencing Primer
(F):5'- TTGAAACTTCTCGCCCAGTGGAG -3'
(R):5'- CCAAGTATGTTTCAGTGGTTCATTAC -3'
Posted On 2017-12-01