Incidental Mutation 'R6669:Bbc3'
ID 528054
Institutional Source Beutler Lab
Gene Symbol Bbc3
Ensembl Gene ENSMUSG00000002083
Gene Name BCL2 binding component 3
Synonyms PUMA
MMRRC Submission 044789-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6669 (G1)
Quality Score 116.008
Status Validated
Chromosome 7
Chromosomal Location 16042318-16052130 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 16047641 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 122 (A122S)
Ref Sequence ENSEMBL: ENSMUSP00000119225 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002152] [ENSMUST00000136781] [ENSMUST00000209688]
AlphaFold Q99ML1
Predicted Effect possibly damaging
Transcript: ENSMUST00000002152
AA Change: A122S

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000002152
Gene: ENSMUSG00000002083
AA Change: A122S

DomainStartEndE-ValueType
Pfam:PUMA 2 193 8.5e-97 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000136781
AA Change: A122S

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000119225
Gene: ENSMUSG00000002083
AA Change: A122S

DomainStartEndE-ValueType
low complexity region 42 71 N/A INTRINSIC
low complexity region 73 95 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147267
Predicted Effect probably benign
Transcript: ENSMUST00000209688
Meta Mutation Damage Score 0.0612 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.5%
Validation Efficiency 97% (33/34)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the BCL-2 family of proteins. This family member belongs to the BH3-only pro-apoptotic subclass. The protein cooperates with direct activator proteins to induce mitochondrial outer membrane permeabilization and apoptosis. It can bind to anti-apoptotic Bcl-2 family members to induce mitochondrial dysfunction and caspase activation. Because of its pro-apoptotic role, this gene is a potential drug target for cancer therapy and for tissue injury. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene display abnormalities in apoptosis but otherwise are phenotypically normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ascc3 A G 10: 50,716,469 (GRCm39) I1952V probably benign Het
Atg2b T C 12: 105,637,788 (GRCm39) E142G possibly damaging Het
Cenpu T C 8: 47,029,319 (GRCm39) S191P probably damaging Het
Clic3 G T 2: 25,347,779 (GRCm39) R48L possibly damaging Het
Cmya5 T C 13: 93,229,767 (GRCm39) K1774E probably benign Het
Cnst T A 1: 179,432,638 (GRCm39) probably null Het
Cyfip1 T A 7: 55,549,809 (GRCm39) S657T probably damaging Het
Dock10 T C 1: 80,570,572 (GRCm39) Y322C probably damaging Het
Epn2 C T 11: 61,410,384 (GRCm39) V550I probably benign Het
Evc2 C T 5: 37,535,722 (GRCm39) P466S possibly damaging Het
Fancd2 C T 6: 113,570,288 (GRCm39) T1413I probably benign Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Herc4 T A 10: 63,121,847 (GRCm39) W400R probably benign Het
Kcna7 T C 7: 45,058,988 (GRCm39) V425A probably damaging Het
Klhl3 A T 13: 58,158,966 (GRCm39) D564E probably benign Het
Man2b2 T C 5: 36,967,702 (GRCm39) I889V probably benign Het
Mcm3ap A G 10: 76,343,171 (GRCm39) I1688V probably damaging Het
Mocos T A 18: 24,799,467 (GRCm39) F234I probably damaging Het
Muc20 T C 16: 32,614,307 (GRCm39) T357A possibly damaging Het
Ncoa6 T G 2: 155,241,613 (GRCm39) probably null Het
Nlk C A 11: 78,477,892 (GRCm39) G284* probably null Het
Nrxn1 T A 17: 90,366,991 (GRCm39) T12S probably damaging Het
Nrxn2 A G 19: 6,531,221 (GRCm39) Y627C probably damaging Het
Ntn1 T C 11: 68,276,576 (GRCm39) N124S probably benign Het
Pdzd7 T A 19: 45,025,190 (GRCm39) Q435L possibly damaging Het
Rsf1 GCGGCGGCG GCGGCGGCGTCGGCGGCG 7: 97,229,132 (GRCm39) probably benign Het
Slc30a10 G A 1: 185,196,625 (GRCm39) R429Q probably benign Het
Tox4 T C 14: 52,524,213 (GRCm39) Y116H probably damaging Het
Trpv5 G A 6: 41,634,976 (GRCm39) A451V probably damaging Het
Ube3a T C 7: 58,926,605 (GRCm39) V482A probably benign Het
Vcan A T 13: 89,852,850 (GRCm39) D703E probably benign Het
Xirp2 C A 2: 67,343,699 (GRCm39) A1980E possibly damaging Het
Xrcc1 T C 7: 24,246,762 (GRCm39) V10A probably damaging Het
Other mutations in Bbc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
Dunnaway UTSW 7 16,047,733 (GRCm39) nonsense probably null
R2130:Bbc3 UTSW 7 16,046,268 (GRCm39) missense possibly damaging 0.51
R6935:Bbc3 UTSW 7 16,046,124 (GRCm39) missense possibly damaging 0.92
R7159:Bbc3 UTSW 7 16,047,733 (GRCm39) nonsense probably null
R7393:Bbc3 UTSW 7 16,047,714 (GRCm39) missense probably benign 0.08
R7464:Bbc3 UTSW 7 16,051,082 (GRCm39) missense unknown
R7575:Bbc3 UTSW 7 16,046,292 (GRCm39) missense possibly damaging 0.95
R9559:Bbc3 UTSW 7 16,047,660 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AAGAAAGCACAGTGTAGCTCC -3'
(R):5'- GCATCCAGCAGATCCATTCC -3'

Sequencing Primer
(F):5'- ACAGTGTAGCTCCTGGGC -3'
(R):5'- ATCTGCTTGTCCCTGGCG -3'
Posted On 2018-07-24