Incidental Mutation 'R1860:Derl2'
ID 203825
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 039883-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1860 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 70898266-70910667 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70909169 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 43 (F43S)
Ref Sequence ENSEMBL: ENSMUSP00000136261 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018586] [ENSMUST00000048807] [ENSMUST00000108523] [ENSMUST00000131340] [ENSMUST00000132198] [ENSMUST00000133413] [ENSMUST00000136137] [ENSMUST00000143850] [ENSMUST00000143762] [ENSMUST00000155236] [ENSMUST00000171041] [ENSMUST00000164220]
AlphaFold Q8BNI4
Predicted Effect probably damaging
Transcript: ENSMUST00000018586
AA Change: F43S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136261
Gene: ENSMUSG00000018442
AA Change: F43S

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 damaging
Transcript: ENSMUST00000108523
AA Change: F43S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000104163
Gene: ENSMUSG00000018442
AA Change: F43S

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 probably damaging
Transcript: ENSMUST00000143850
AA Change: F43S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000117052
Gene: ENSMUSG00000018442
AA Change: F43S

DomainStartEndE-ValueType
Pfam:DER1 13 203 7.8e-72 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140712
Predicted Effect probably benign
Transcript: ENSMUST00000143762
Predicted Effect probably benign
Transcript: ENSMUST00000155236
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: 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
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 91.7%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A G 5: 109,884,098 (GRCm39) C587R probably damaging Het
Abca16 T A 7: 120,133,986 (GRCm39) S1320T probably benign Het
Abra C A 15: 41,732,430 (GRCm39) R212L probably damaging Het
Acadsb T A 7: 131,045,958 (GRCm39) probably null Het
Adam26a A G 8: 44,022,578 (GRCm39) V304A possibly damaging Het
Adgre1 T C 17: 57,748,363 (GRCm39) V521A probably benign Het
Adh5 G A 3: 138,159,539 (GRCm39) V288I probably benign Het
Astn1 A C 1: 158,429,515 (GRCm39) N753T probably damaging Het
Atad2 A T 15: 57,960,114 (GRCm39) probably null Het
Best3 A G 10: 116,829,178 (GRCm39) T153A probably damaging Het
Ccdc122 G A 14: 77,348,847 (GRCm39) V226I probably damaging Het
Ccdc175 T C 12: 72,152,700 (GRCm39) Q735R probably benign Het
Cd19 T A 7: 126,008,813 (GRCm39) I499F probably damaging Het
Cftr T A 6: 18,268,288 (GRCm39) L749H probably benign Het
Clec2h G T 6: 128,652,790 (GRCm39) G186W probably damaging Het
Cpsf3 T A 12: 21,346,733 (GRCm39) I202N probably damaging Het
Crebbp G T 16: 3,905,600 (GRCm39) T1669N possibly damaging Het
Csmd3 A T 15: 47,522,588 (GRCm39) C2694S probably damaging Het
Cul4a G A 8: 13,173,565 (GRCm39) R204Q probably damaging Het
Dnah14 T A 1: 181,591,525 (GRCm39) N3348K probably damaging Het
Dnhd1 T C 7: 105,353,412 (GRCm39) V2855A probably benign Het
Dpysl4 G T 7: 138,670,215 (GRCm39) C27F probably benign Het
Fam228b G A 12: 4,798,314 (GRCm39) A163V probably damaging Het
Fscn1 T C 5: 142,955,818 (GRCm39) probably null Het
Fzd5 C A 1: 64,774,153 (GRCm39) R536L probably damaging Het
Gm8180 T A 14: 44,021,196 (GRCm39) H4L probably benign Het
Gpr176 T A 2: 118,203,659 (GRCm39) N4Y probably damaging Het
Grin3a T C 4: 49,665,309 (GRCm39) I1109V possibly damaging Het
Hcar1 T A 5: 124,017,092 (GRCm39) I200F probably damaging Het
Heatr4 G A 12: 84,026,502 (GRCm39) Q252* probably null Het
Hps1 G A 19: 42,750,888 (GRCm39) H371Y probably damaging Het
Ikzf2 T C 1: 69,609,661 (GRCm39) T195A probably damaging Het
Kdm1b G A 13: 47,202,666 (GRCm39) A34T probably benign Het
Lef1 A G 3: 130,905,290 (GRCm39) N57S probably damaging Het
Ltn1 A T 16: 87,213,231 (GRCm39) D443E probably benign Het
Macroh2a1 A G 13: 56,231,017 (GRCm39) L287P probably damaging Het
Mamdc2 T C 19: 23,336,517 (GRCm39) T331A probably damaging Het
Marchf10 A T 11: 105,287,904 (GRCm39) S133T probably damaging Het
Mb A G 15: 76,901,784 (GRCm39) Y104H probably damaging Het
Mrc1 C A 2: 14,333,390 (GRCm39) P1357Q probably benign Het
Nfib C T 4: 82,241,917 (GRCm39) V425M probably damaging Het
Or12j2 G A 7: 139,916,132 (GRCm39) R119H possibly damaging Het
Or4a27 T G 2: 88,559,674 (GRCm39) I90L probably damaging Het
Or4b1b C A 2: 90,112,502 (GRCm39) C139F probably damaging Het
Or4c127 G A 2: 89,833,490 (GRCm39) V247I probably benign Het
Or4n4 A T 14: 50,518,848 (GRCm39) Y287* probably null Het
Or52u1 T C 7: 104,237,112 (GRCm39) S34P probably damaging Het
Or5b113 T A 19: 13,342,705 (GRCm39) S238T possibly damaging Het
Or5p53 A G 7: 107,533,597 (GRCm39) Y290C probably damaging Het
Or6c208 T C 10: 129,223,955 (GRCm39) F151S probably damaging Het
Or8b51 A T 9: 38,569,661 (GRCm39) V9E probably damaging Het
Phaf1 A G 8: 105,966,703 (GRCm39) E150G probably null Het
Piezo1 T C 8: 123,222,489 (GRCm39) N919S possibly damaging Het
Prkaca T C 8: 84,707,852 (GRCm39) S46P probably benign Het
Prkcb T G 7: 122,167,424 (GRCm39) V378G probably damaging Het
Ptprf A T 4: 118,081,129 (GRCm39) L576Q probably damaging Het
Rapgef4 T C 2: 72,065,064 (GRCm39) V687A probably benign Het
Rsad2 C T 12: 26,500,616 (GRCm39) V224I probably damaging Het
Ryr1 A T 7: 28,708,977 (GRCm39) D4796E unknown Het
Scn1a C T 2: 66,148,326 (GRCm39) S1073N probably damaging Het
Slc26a3 A G 12: 31,515,845 (GRCm39) M582V probably benign Het
Tbc1d32 A T 10: 55,999,633 (GRCm39) Y846* probably null Het
Tbk1 A T 10: 121,383,076 (GRCm39) M719K probably benign Het
Timeless A G 10: 128,081,983 (GRCm39) K536R probably benign Het
Tle6 G T 10: 81,430,163 (GRCm39) Q330K probably damaging Het
Tmem208 A G 8: 106,061,438 (GRCm39) K155E possibly damaging Het
Toe1 T C 4: 116,662,426 (GRCm39) Y273C probably damaging Het
Tppp2 A C 14: 52,158,062 (GRCm39) N169T probably benign Het
Ttll6 T A 11: 96,029,700 (GRCm39) Y204* probably null Het
Ubxn11 G A 4: 133,852,149 (GRCm39) S32N probably damaging Het
Usp8 G A 2: 126,597,960 (GRCm39) C961Y probably damaging Het
Vdac3 A T 8: 23,070,515 (GRCm39) I132K possibly damaging Het
Vmn2r124 G T 17: 18,269,759 (GRCm39) W5L probably benign Het
Vmn2r71 A T 7: 85,264,782 (GRCm39) D38V probably damaging Het
Vmn2r87 C T 10: 130,315,755 (GRCm39) V104I probably benign Het
Vmn2r97 C T 17: 19,167,648 (GRCm39) T634I probably benign Het
Vps50 T C 6: 3,520,279 (GRCm39) probably null Het
Wwc2 T C 8: 48,443,137 (GRCm39) N32S possibly damaging Het
Ythdc2 T A 18: 45,006,023 (GRCm39) I1172K possibly damaging Het
Zfp14 C T 7: 29,738,116 (GRCm39) V290M probably damaging Het
Zfp317 G A 9: 19,553,280 (GRCm39) A18T possibly damaging Het
Zfp354b A T 11: 50,814,369 (GRCm39) N185K probably benign Het
Zscan21 T A 5: 138,124,892 (GRCm39) D269E probably benign 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
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
Predicted Primers PCR Primer
(F):5'- AGCAGCTCTCAAACCATTCTAG -3'
(R):5'- TTACCAGCTGTCACAAGCAAG -3'

Sequencing Primer
(F):5'- ATTCTAGAGTCCAACCAGGCTGTG -3'
(R):5'- GTCACAAGCAAGACAGAAATGTATTC -3'
Posted On 2014-06-23