Incidental Mutation 'R2049:Bscl2'
ID 226293
Institutional Source Beutler Lab
Gene Symbol Bscl2
Ensembl Gene ENSMUSG00000071657
Gene Name BSCL2 lipid droplet biogenesis associated, seipin
Synonyms seipin, Gng3lg
MMRRC Submission 040056-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2049 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 8814831-8826047 bp(+) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) T to C at 8822684 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127685 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086058] [ENSMUST00000159634] [ENSMUST00000159653] [ENSMUST00000160556] [ENSMUST00000160897] [ENSMUST00000171649]
AlphaFold Q9Z2E9
Predicted Effect probably null
Transcript: ENSMUST00000086058
SMART Domains Protein: ENSMUSP00000083224
Gene: ENSMUSG00000071657

DomainStartEndE-ValueType
Pfam:Seipin 37 243 3.9e-71 PFAM
Blast:PAC 269 306 4e-7 BLAST
low complexity region 353 371 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159571
Predicted Effect probably null
Transcript: ENSMUST00000159634
SMART Domains Protein: ENSMUSP00000125422
Gene: ENSMUSG00000071657

DomainStartEndE-ValueType
Pfam:Seipin 37 243 3.9e-71 PFAM
Blast:PAC 269 306 4e-7 BLAST
low complexity region 353 371 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159653
SMART Domains Protein: ENSMUSP00000123920
Gene: ENSMUSG00000071657

DomainStartEndE-ValueType
Pfam:Seipin 1 97 1.2e-33 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000160556
SMART Domains Protein: ENSMUSP00000123976
Gene: ENSMUSG00000071657

DomainStartEndE-ValueType
Pfam:Seipin 37 243 3.9e-71 PFAM
Blast:PAC 269 306 4e-7 BLAST
low complexity region 353 371 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160897
SMART Domains Protein: ENSMUSP00000125250
Gene: ENSMUSG00000071657

DomainStartEndE-ValueType
Pfam:Seipin 97 208 2.8e-34 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000171649
SMART Domains Protein: ENSMUSP00000127685
Gene: ENSMUSG00000071657

DomainStartEndE-ValueType
Pfam:Seipin 99 302 8.5e-66 PFAM
Blast:PAC 329 366 2e-6 BLAST
low complexity region 413 431 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162071
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162580
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 97% (118/122)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit severe generalized lipodystrophy with hepatic steatosis, glucose intolerance, and insulin resistance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 118 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik G A 14: 54,822,444 (GRCm39) R8* probably null Het
Abhd17a A G 10: 80,421,440 (GRCm39) probably null Het
Acsm1 A G 7: 119,255,262 (GRCm39) R415G probably damaging Het
Acta1 G T 8: 124,618,803 (GRCm39) T360N probably benign Het
Adam6a T A 12: 113,508,049 (GRCm39) S141T probably benign Het
Adgrd1 G T 5: 129,192,159 (GRCm39) K76N probably benign Het
Afdn A G 17: 14,030,695 (GRCm39) E202G probably damaging Het
Agps T A 2: 75,689,270 (GRCm39) M156K probably benign Het
Agxt A G 1: 93,065,037 (GRCm39) I149V probably benign Het
Aoc1l1 T A 6: 48,954,689 (GRCm39) L609* probably null Het
Aqp2 A G 15: 99,477,247 (GRCm39) T72A probably damaging Het
Arhgap18 T A 10: 26,725,938 (GRCm39) D54E probably benign Het
Asb8 C A 15: 98,033,950 (GRCm39) E202* probably null Het
Bmp5 A G 9: 75,801,072 (GRCm39) I401V probably damaging Het
Capn9 G A 8: 125,332,450 (GRCm39) G430R possibly damaging Het
Cd55 C T 1: 130,377,160 (GRCm39) V333I probably benign Het
Cep112 A G 11: 108,497,151 (GRCm39) E697G probably damaging Het
Cerk G A 15: 86,027,009 (GRCm39) S167L probably benign Het
Chrm3 T A 13: 9,928,371 (GRCm39) I222F probably damaging Het
Clcn6 A G 4: 148,108,594 (GRCm39) F145S possibly damaging Het
Cnksr1 A G 4: 133,956,939 (GRCm39) Y488H probably damaging Het
Cntrl CAGAG CAG 2: 35,012,818 (GRCm39) probably null Het
Commd10 A T 18: 47,096,814 (GRCm39) T74S probably benign Het
Cyp4f39 T C 17: 32,701,112 (GRCm39) F201L probably benign Het
Dennd4a A G 9: 64,796,887 (GRCm39) T860A possibly damaging Het
Dlg5 A T 14: 24,204,715 (GRCm39) I1253N probably damaging Het
Dnah7b T A 1: 46,307,830 (GRCm39) M3048K probably damaging Het
Dnah9 A G 11: 65,935,509 (GRCm39) M1970T probably damaging Het
Dsc3 A T 18: 20,122,737 (GRCm39) D62E possibly damaging Het
Dsel T C 1: 111,787,187 (GRCm39) N1116S probably benign Het
Dusp7 C T 9: 106,251,096 (GRCm39) T407M probably damaging Het
Efnb1 A G X: 98,191,123 (GRCm39) Y343C probably damaging Het
Eif1ad8 A G 12: 87,564,046 (GRCm39) D127G unknown Het
Entpd5 A G 12: 84,443,632 (GRCm39) I12T probably benign Het
Espn T C 4: 152,205,714 (GRCm39) E408G probably damaging Het
Fhip1b A T 7: 105,039,046 (GRCm39) D64E probably damaging Het
Gdpd3 A G 7: 126,367,766 (GRCm39) T200A probably damaging Het
Gli1 A G 10: 127,172,596 (GRCm39) L182P probably damaging Het
Gm5134 G A 10: 75,840,718 (GRCm39) A521T possibly damaging Het
Gprasp1 G A X: 134,702,791 (GRCm39) E995K possibly damaging Het
H2-M10.1 T C 17: 36,636,108 (GRCm39) D153G possibly damaging Het
Helb A T 10: 119,941,926 (GRCm39) M254K possibly damaging Het
I0C0044D17Rik A G 4: 98,708,533 (GRCm39) probably benign Het
Igfn1 AGGG AGG 1: 135,902,590 (GRCm39) probably benign Het
Igfn1 T A 1: 135,898,376 (GRCm39) Q730L probably benign Het
Ipo9 ATCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTCCTC 1: 135,314,006 (GRCm39) probably benign Het
Ipo9 A G 1: 135,329,988 (GRCm39) V484A probably benign Het
Jmjd1c T A 10: 66,993,777 (GRCm39) L86* probably null Het
Kat5 T A 19: 5,655,713 (GRCm39) probably null Het
Kif14 A G 1: 136,414,818 (GRCm39) N768S probably benign Het
Kif14 A G 1: 136,437,905 (GRCm39) E1199G possibly damaging Het
Klhl29 A G 12: 5,187,876 (GRCm39) S163P probably damaging Het
Kmt2c C A 5: 25,490,077 (GRCm39) Q4287H probably damaging Het
Krt82 T A 15: 101,453,591 (GRCm39) Q265L probably damaging Het
Macf1 C T 4: 123,248,895 (GRCm39) C7210Y probably damaging Het
Mx2 G A 16: 97,339,903 (GRCm39) E20K probably benign Het
Myom2 T G 8: 15,156,379 (GRCm39) I742S probably damaging Het
Narf A T 11: 121,141,195 (GRCm39) R310* probably null Het
Nktr T A 9: 121,570,760 (GRCm39) D167E probably damaging Het
Nle1 A G 11: 82,796,192 (GRCm39) W183R probably damaging Het
Npas3 A G 12: 54,108,871 (GRCm39) N425S probably damaging Het
Obsl1 G A 1: 75,486,756 (GRCm38) T1764M probably benign Het
Optc A T 1: 133,831,534 (GRCm39) probably null Het
Or4a27 A T 2: 88,559,089 (GRCm39) Y285N probably damaging Het
Or4a68 C T 2: 89,269,927 (GRCm39) R232H probably benign Het
Or4d5 T A 9: 40,012,415 (GRCm39) I124L probably benign Het
Or6c69 A G 10: 129,748,036 (GRCm39) V37A probably benign Het
Or8g52 A T 9: 39,631,411 (GRCm39) D296V probably damaging Het
Or8s2 G A 15: 98,276,277 (GRCm39) T238I possibly damaging Het
Otol1 T A 3: 69,926,169 (GRCm39) F115I probably benign Het
Parp8 T A 13: 117,031,422 (GRCm39) D430V probably benign Het
Pex7 T A 10: 19,770,061 (GRCm39) H123L probably damaging Het
Pkhd1l1 T A 15: 44,410,909 (GRCm39) probably benign Het
Pkhd1l1 G A 15: 44,445,137 (GRCm39) D3670N probably damaging Het
Plec T C 15: 76,067,374 (GRCm39) T1331A probably benign Het
Plekha4 A G 7: 45,203,222 (GRCm39) D704G probably benign Het
Plxnb2 T A 15: 89,043,205 (GRCm39) N1453I probably damaging Het
Pms1 T A 1: 53,321,147 (GRCm39) I29F probably damaging Het
Ppp1r1a G A 15: 103,439,833 (GRCm39) T153I probably damaging Het
Pramel12 T A 4: 143,143,441 (GRCm39) L69Q probably damaging Het
Prelp C T 1: 133,842,869 (GRCm39) R92K probably benign Het
Ptpre A G 7: 135,272,424 (GRCm39) probably benign Het
Ptprt A T 2: 161,376,465 (GRCm39) I1312N probably damaging Het
Ren1 C G 1: 133,278,516 (GRCm39) probably null Het
Rims1 C T 1: 22,635,516 (GRCm39) C155Y probably damaging Het
Ro60 T C 1: 143,635,772 (GRCm39) D458G probably benign Het
Slitrk6 T G 14: 110,988,226 (GRCm39) T494P probably benign Het
Sltm G A 9: 70,488,583 (GRCm39) G578S probably benign Het
Smyd5 A G 6: 85,421,300 (GRCm39) E338G probably benign Het
Snx2 G A 18: 53,327,516 (GRCm39) V81M probably damaging Het
Sp2 G T 11: 96,852,191 (GRCm39) N244K probably benign Het
Sspo C A 6: 48,437,697 (GRCm39) probably benign Het
Sspo A C 6: 48,440,465 (GRCm39) D1568A probably benign Het
Ssrp1 T C 2: 84,871,771 (GRCm39) probably benign Het
Syt2 ACTCTCTCT ACTCTCTCTCT 1: 134,674,479 (GRCm39) probably benign Het
Syt7 G A 19: 10,416,577 (GRCm39) R138Q probably benign Het
Taar7f T C 10: 23,926,323 (GRCm39) Y306H possibly damaging Het
Tbccd1 T C 16: 22,637,291 (GRCm39) probably null Het
Tesl1 T A X: 23,773,549 (GRCm39) V350E probably benign Het
Tex261 A G 6: 83,749,241 (GRCm39) Y119H probably damaging Het
Tmem131l T G 3: 83,850,095 (GRCm39) E234D probably damaging Het
Tnnt2 TG TGG 1: 135,774,499 (GRCm39) probably benign Het
Top6bl A G 19: 4,748,633 (GRCm39) probably benign Het
Ttn C T 2: 76,643,683 (GRCm39) G11436R probably damaging Het
Ubap1 C T 4: 41,379,257 (GRCm39) A157V probably damaging Het
Ubr4 C T 4: 139,204,518 (GRCm39) T4810M probably damaging Het
Uso1 G A 5: 92,329,795 (GRCm39) G427R probably damaging Het
Usp15 A T 10: 122,955,042 (GRCm39) V912D probably damaging Het
Vmn1r20 T C 6: 57,408,943 (GRCm39) S90P probably damaging Het
Vmn1r32 T C 6: 66,530,545 (GRCm39) K77R probably damaging Het
Vmn2r100 A G 17: 19,742,312 (GRCm39) K229E probably benign Het
Vmn2r106 A G 17: 20,488,566 (GRCm39) V611A possibly damaging Het
Xrcc6 T A 15: 81,907,178 (GRCm39) F167I probably damaging Het
Zbtb21 G T 16: 97,751,355 (GRCm39) P804H probably damaging Het
Zdhhc3 T C 9: 122,929,602 (GRCm39) D11G probably damaging Het
Zfhx3 A G 8: 109,671,809 (GRCm39) T1324A probably benign Het
Zfp281 GCGGCAGCTCCGGCAGC GCGGCAGCTCCGGCAGCTCCGGCAGC 1: 136,553,091 (GRCm39) probably benign Het
Zfp608 G T 18: 55,028,637 (GRCm39) L1259I probably damaging Het
Other mutations in Bscl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01908:Bscl2 APN 19 8,822,640 (GRCm39) missense probably damaging 0.99
IGL03206:Bscl2 APN 19 8,820,453 (GRCm39) missense probably damaging 0.97
R0193:Bscl2 UTSW 19 8,824,793 (GRCm39) missense probably benign 0.21
R1112:Bscl2 UTSW 19 8,817,098 (GRCm39) missense possibly damaging 0.90
R1513:Bscl2 UTSW 19 8,818,509 (GRCm39) missense probably damaging 1.00
R2121:Bscl2 UTSW 19 8,817,146 (GRCm39) nonsense probably null
R2140:Bscl2 UTSW 19 8,822,684 (GRCm39) splice site probably null
R2142:Bscl2 UTSW 19 8,822,684 (GRCm39) splice site probably null
R2483:Bscl2 UTSW 19 8,818,514 (GRCm39) missense probably benign 0.01
R3623:Bscl2 UTSW 19 8,818,514 (GRCm39) missense probably benign 0.01
R4177:Bscl2 UTSW 19 8,817,120 (GRCm39) missense possibly damaging 0.85
R4675:Bscl2 UTSW 19 8,825,523 (GRCm39) missense possibly damaging 0.81
R4967:Bscl2 UTSW 19 8,825,344 (GRCm39) missense probably benign 0.02
R5051:Bscl2 UTSW 19 8,822,643 (GRCm39) nonsense probably null
R5446:Bscl2 UTSW 19 8,823,564 (GRCm39) missense possibly damaging 0.91
R6493:Bscl2 UTSW 19 8,817,138 (GRCm39) missense probably damaging 1.00
R6838:Bscl2 UTSW 19 8,818,745 (GRCm39) missense probably damaging 1.00
R7117:Bscl2 UTSW 19 8,825,878 (GRCm39) missense possibly damaging 0.68
R7401:Bscl2 UTSW 19 8,823,914 (GRCm39) missense possibly damaging 0.57
R7923:Bscl2 UTSW 19 8,824,883 (GRCm39) missense probably benign 0.00
R8249:Bscl2 UTSW 19 8,823,884 (GRCm39) missense probably damaging 1.00
R8332:Bscl2 UTSW 19 8,823,594 (GRCm39) missense probably benign 0.23
R8748:Bscl2 UTSW 19 8,825,311 (GRCm39) missense probably damaging 0.99
R8870:Bscl2 UTSW 19 8,824,793 (GRCm39) missense probably benign 0.02
R8926:Bscl2 UTSW 19 8,825,348 (GRCm39) critical splice donor site probably null
R9249:Bscl2 UTSW 19 8,820,378 (GRCm39) missense probably damaging 1.00
R9691:Bscl2 UTSW 19 8,817,110 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TTGAGTTCTTAAGCAGAGACAGTAC -3'
(R):5'- GGCACACCATAGGATACCAGTG -3'

Sequencing Primer
(F):5'- CAAGCAGCTCTCTGAATTTGAGGC -3'
(R):5'- CCAGTGTTTGGCAAATGTTAAGC -3'
Posted On 2014-09-17