Incidental Mutation 'R6047:Bloc1s2'
ID 483363
Institutional Source Beutler Lab
Gene Symbol Bloc1s2
Ensembl Gene ENSMUSG00000057506
Gene Name biogenesis of lysosomal organelles complex-1, subunit 2
Synonyms Bloc1s2, BLOS2, Bloc1s2a, 2410089B13Rik
MMRRC Submission 044215-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6047 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 44127685-44134885 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44130629 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 112 (I112V)
Ref Sequence ENSEMBL: ENSMUSP00000078042 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079033]
AlphaFold Q9CWG9
Predicted Effect possibly damaging
Transcript: ENSMUST00000079033
AA Change: I112V

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000078042
Gene: ENSMUSG00000057506
AA Change: I112V

DomainStartEndE-ValueType
low complexity region 22 36 N/A INTRINSIC
Pfam:BLOC1_2 43 138 6.9e-39 PFAM
Meta Mutation Damage Score 0.1448 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.6%
Validation Efficiency 100% (36/36)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with multiple functions. The encoded protein has been found in association with the centrosome, shown to co-localize with gamma-tubulin, and also found to be one of the proteins in the BLOC-1 complex which functions in the formation of lysosome-related organelles. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit elevated Notch signaling during neural and hematopoietic stem and progenitor cell development leading to prenatal and neonatal lethality associated with defects in cortical development and hematopoiesis, craniofacial anomalies, and absent eye pigmentation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T C 5: 8,856,066 (GRCm39) I58T probably damaging Het
Adgrb2 G T 4: 129,912,498 (GRCm39) G1208C probably damaging Het
Antxrl T C 14: 33,775,433 (GRCm39) probably benign Het
Appl2 C T 10: 83,448,765 (GRCm39) probably null Het
Cblb G T 16: 51,932,611 (GRCm39) probably null Het
Cdk9 T C 2: 32,598,285 (GRCm39) probably null Het
Dok7 G A 5: 35,236,651 (GRCm39) G206D probably damaging Het
Ftsj3 C T 11: 106,143,144 (GRCm39) R390H probably damaging Het
Gpr179 G T 11: 97,229,242 (GRCm39) P971Q probably damaging Het
Hic1 A T 11: 75,057,675 (GRCm39) S405T possibly damaging Het
Ifngr1 T C 10: 19,482,061 (GRCm39) L217P probably damaging Het
Insrr A G 3: 87,711,483 (GRCm39) K468E probably damaging Het
Lce1j G C 3: 92,696,503 (GRCm39) R92G unknown Het
Lrp12 T C 15: 39,735,463 (GRCm39) E823G probably damaging Het
Lrp1b A G 2: 40,527,787 (GRCm39) I98T probably benign Het
Mbd3l2 A T 9: 18,356,212 (GRCm39) H179L possibly damaging Het
Med24 A T 11: 98,598,591 (GRCm39) C691* probably null Het
Mical1 T C 10: 41,357,703 (GRCm39) probably null Het
Msantd2 A T 9: 37,434,738 (GRCm39) Y326F probably damaging Het
Nfyc T A 4: 120,636,314 (GRCm39) probably null Het
Nrg3 T A 14: 38,119,309 (GRCm39) probably null Het
Nt5c3 G A 6: 56,859,964 (GRCm39) S291L probably damaging Het
Pak4 A G 7: 28,262,461 (GRCm39) Y384H probably benign Het
Pdia5 T C 16: 35,217,848 (GRCm39) K512E probably damaging Het
Pfpl T C 19: 12,406,597 (GRCm39) F283L probably damaging Het
Pick1 A G 15: 79,139,895 (GRCm39) probably benign Het
Pkd1 T C 17: 24,814,059 (GRCm39) V4143A probably damaging Het
Ptprc C T 1: 138,028,779 (GRCm39) probably null Het
Scn10a A G 9: 119,451,897 (GRCm39) F1342S probably benign Het
Slc17a7 A T 7: 44,822,830 (GRCm39) I436F probably benign Het
Slc34a1 G T 13: 55,559,884 (GRCm39) A403S probably damaging Het
Stmn3 A T 2: 180,950,952 (GRCm39) Y35N possibly damaging Het
Tldc2 A G 2: 156,938,382 (GRCm39) E207G probably damaging Het
Unc79 A G 12: 103,027,717 (GRCm39) N436S probably damaging Het
Uty G T Y: 1,158,288 (GRCm39) P538Q probably damaging Het
Zzef1 A G 11: 72,756,921 (GRCm39) D1142G probably damaging Het
Other mutations in Bloc1s2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0486:Bloc1s2 UTSW 19 44,131,589 (GRCm39) splice site probably benign
Predicted Primers PCR Primer
(F):5'- ACTTCTAAGGCAGTAACCACAG -3'
(R):5'- AAGTACCTGTGTCTTCCCAGG -3'

Sequencing Primer
(F):5'- ACTTGTAACTCCAATTCCAGGGGG -3'
(R):5'- TGTGTCTTCCCAGGACGAG -3'
Posted On 2017-07-14