Incidental Mutation 'R0086:Bcl2'
ID 60576
Institutional Source Beutler Lab
Gene Symbol Bcl2
Ensembl Gene ENSMUSG00000057329
Gene Name B cell leukemia/lymphoma 2
Synonyms Bcl-2, C430015F12Rik, D830018M01Rik
MMRRC Submission 038373-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.910) question?
Stock # R0086 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 106465908-106642004 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 106640292 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 107 (R107C)
Ref Sequence ENSEMBL: ENSMUSP00000139856 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112751] [ENSMUST00000189999]
AlphaFold P10417
Predicted Effect probably damaging
Transcript: ENSMUST00000112751
AA Change: R107C

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000108371
Gene: ENSMUSG00000057329
AA Change: R107C

DomainStartEndE-ValueType
BH4 7 33 1.13e-12 SMART
BCL 94 192 4.43e-48 SMART
transmembrane domain 211 233 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000189999
AA Change: R107C

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000139856
Gene: ENSMUSG00000057329
AA Change: R107C

DomainStartEndE-ValueType
BH4 7 33 1.13e-12 SMART
BCL 94 192 4.43e-48 SMART
Meta Mutation Damage Score 0.4359 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.0%
  • 10x: 94.6%
  • 20x: 86.6%
Validation Efficiency 96% (91/95)
MGI Phenotype FUNCTION: This gene encodes a member of the B cell lymphoma 2 protein family. Members of this family regulate cell death in multiple cell types and can have either proapoptotic or antiapoptotic activities. The protein encoded by this gene inhibits mitochondrial-mediated apoptosis. This protein is an integral outer mitochondrial membrane protein that functions as part of signaling pathway that controls mitochondrial permeability in response to apoptotic stimuli. This protein may also play a role in neuron cell survival and autophagy. Abnormal expression and chromosomal translocations of this gene are associated with cancer progression in numerous tissues. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous null mutants show pleiotropic abnormalities including small size, increased postnatal mortality, polycystic kidneys, apoptotic involution of thymus and spleen, graying in the second hair follicle cycle, and reduced numbers of motor, sympathetic and sensory neurons. [provided by MGI curators]
Allele List at MGI

All alleles(11) : Targeted(8) Gene trapped(2) Chemically induced(1)          

Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T A 15: 81,946,802 (GRCm39) V233D probably benign Het
Abcg8 T C 17: 85,000,199 (GRCm39) V252A probably damaging Het
Adam39 C T 8: 41,279,397 (GRCm39) T596I possibly damaging Het
Agap2 C A 10: 126,923,751 (GRCm39) probably null Het
Ap4b1 T G 3: 103,722,176 (GRCm39) V50G probably damaging Het
Atp13a1 T A 8: 70,250,424 (GRCm39) I381N possibly damaging Het
Birc6 T C 17: 74,900,161 (GRCm39) V1113A possibly damaging Het
C1galt1 T A 6: 7,867,051 (GRCm39) probably benign Het
Capza2 A G 6: 17,660,773 (GRCm39) K158E probably damaging Het
Cenpe C T 3: 134,970,185 (GRCm39) probably benign Het
Cercam T C 2: 29,761,076 (GRCm39) L42P probably damaging Het
Cfap54 T C 10: 92,864,456 (GRCm39) E807G possibly damaging Het
Cog6 A G 3: 52,900,991 (GRCm39) V157A probably damaging Het
Cts6 A T 13: 61,344,271 (GRCm39) probably benign Het
Cyp2c39 A T 19: 39,499,357 (GRCm39) I15F unknown Het
Dock7 A T 4: 98,833,381 (GRCm39) V1970D probably damaging Het
Exph5 A G 9: 53,249,230 (GRCm39) D73G possibly damaging Het
Gjc2 A T 11: 59,067,672 (GRCm39) M270K probably benign Het
Gns G A 10: 121,227,378 (GRCm39) D463N probably damaging Het
Hoxd8 G T 2: 74,536,276 (GRCm39) G129W probably damaging Het
Ina A G 19: 47,012,030 (GRCm39) T483A possibly damaging Het
Lmod3 T A 6: 97,224,306 (GRCm39) Q505L probably damaging Het
Map3k13 A G 16: 21,732,975 (GRCm39) N526D probably damaging Het
Map3k2 A T 18: 32,351,521 (GRCm39) I435F probably damaging Het
Mfsd6l A G 11: 68,447,391 (GRCm39) T81A probably benign Het
Micall1 T C 15: 79,009,689 (GRCm39) probably benign Het
Mkrn2 G T 6: 115,590,296 (GRCm39) M217I possibly damaging Het
Mtrex G T 13: 113,063,862 (GRCm39) F10L probably benign Het
Myh11 C A 16: 14,041,883 (GRCm39) Q720H probably damaging Het
Ncapg A G 5: 45,834,086 (GRCm39) probably null Het
Nlrp9a G A 7: 26,257,972 (GRCm39) C530Y probably damaging Het
Numb T C 12: 83,842,704 (GRCm39) T442A probably damaging Het
Oip5 C T 2: 119,448,410 (GRCm39) probably benign Het
Or1j14 A T 2: 36,417,462 (GRCm39) I13F possibly damaging Het
Or4c119 C T 2: 88,986,820 (GRCm39) R233H probably benign Het
Or51k1 A G 7: 103,661,261 (GRCm39) I216T probably benign Het
Or8g22 T C 9: 38,958,191 (GRCm39) T175A probably benign Het
Pcnx1 T C 12: 82,038,832 (GRCm39) probably benign Het
Pkhd1l1 T A 15: 44,419,404 (GRCm39) N2956K possibly damaging Het
Plcl1 T A 1: 55,754,742 (GRCm39) W1030R probably damaging Het
Polr2i G A 7: 29,932,511 (GRCm39) V73M probably damaging Het
Prr14l T A 5: 32,988,903 (GRCm39) probably benign Het
Pxdn G T 12: 30,052,418 (GRCm39) R865L possibly damaging Het
Scnn1a T C 6: 125,319,550 (GRCm39) probably benign Het
Shkbp1 G T 7: 27,051,451 (GRCm39) H203N probably benign Het
Slc22a14 C T 9: 119,051,804 (GRCm39) probably benign Het
Snap29 C A 16: 17,246,100 (GRCm39) T240K probably damaging Het
Sp2 C A 11: 96,848,253 (GRCm39) G457C probably damaging Het
Ssr2 C T 3: 88,484,187 (GRCm39) probably benign Het
Synpo2 A T 3: 122,910,753 (GRCm39) C297* probably null Het
Tpm3 T A 3: 89,997,399 (GRCm39) probably benign Het
Trmt6 CTG C 2: 132,650,937 (GRCm39) probably benign Het
Trp63 T C 16: 25,689,837 (GRCm39) Y431H probably damaging Het
Tuba3b T A 6: 145,566,886 (GRCm39) C376S probably damaging Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Ulk1 G A 5: 110,935,573 (GRCm39) probably benign Het
Usp24 T C 4: 106,249,557 (GRCm39) S1425P probably damaging Het
Xdh T C 17: 74,191,433 (GRCm39) I1335V probably benign Het
Zmynd15 T C 11: 70,355,058 (GRCm39) Y352H probably damaging Het
Other mutations in Bcl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00570:Bcl2 APN 1 106,640,088 (GRCm39) missense possibly damaging 0.95
IGL03076:Bcl2 APN 1 106,471,037 (GRCm39) missense probably benign 0.24
Croce UTSW 1 106,471,011 (GRCm39) missense probably damaging 1.00
R0002:Bcl2 UTSW 1 106,640,241 (GRCm39) missense possibly damaging 0.94
R0002:Bcl2 UTSW 1 106,640,241 (GRCm39) missense possibly damaging 0.94
R0083:Bcl2 UTSW 1 106,640,292 (GRCm39) missense probably damaging 0.99
R0107:Bcl2 UTSW 1 106,640,292 (GRCm39) missense probably damaging 0.99
R0183:Bcl2 UTSW 1 106,640,292 (GRCm39) missense probably damaging 0.99
R0217:Bcl2 UTSW 1 106,640,292 (GRCm39) missense probably damaging 0.99
R0219:Bcl2 UTSW 1 106,640,292 (GRCm39) missense probably damaging 0.99
R0346:Bcl2 UTSW 1 106,640,292 (GRCm39) missense probably damaging 0.99
R0347:Bcl2 UTSW 1 106,640,292 (GRCm39) missense probably damaging 0.99
R0348:Bcl2 UTSW 1 106,640,292 (GRCm39) missense probably damaging 0.99
R0361:Bcl2 UTSW 1 106,640,424 (GRCm39) missense probably damaging 0.96
R0470:Bcl2 UTSW 1 106,640,292 (GRCm39) missense probably damaging 0.99
R0471:Bcl2 UTSW 1 106,640,292 (GRCm39) missense probably damaging 0.99
R0601:Bcl2 UTSW 1 106,640,292 (GRCm39) missense probably damaging 0.99
R0609:Bcl2 UTSW 1 106,640,292 (GRCm39) missense probably damaging 0.99
R0965:Bcl2 UTSW 1 106,640,021 (GRCm39) missense probably benign 0.13
R1756:Bcl2 UTSW 1 106,640,122 (GRCm39) missense probably damaging 1.00
R2764:Bcl2 UTSW 1 106,640,166 (GRCm39) missense probably damaging 1.00
R4798:Bcl2 UTSW 1 106,640,338 (GRCm39) missense possibly damaging 0.57
R4922:Bcl2 UTSW 1 106,640,376 (GRCm39) missense probably benign 0.00
R6864:Bcl2 UTSW 1 106,471,011 (GRCm39) missense probably damaging 1.00
R7576:Bcl2 UTSW 1 106,640,153 (GRCm39) missense possibly damaging 0.64
R7837:Bcl2 UTSW 1 106,471,086 (GRCm39) missense possibly damaging 0.93
R8176:Bcl2 UTSW 1 106,640,528 (GRCm39) missense probably damaging 1.00
R9486:Bcl2 UTSW 1 106,471,109 (GRCm39) missense probably benign 0.40
R9548:Bcl2 UTSW 1 106,640,508 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGGCCTTGAGATCAAAGCCCAGAC -3'
(R):5'- TTCCAGCCTGAGAGCAACCCAATG -3'

Sequencing Primer
(F):5'- GTTCAGGTACTCAGTCATCCACAG -3'
(R):5'- ACCCAATGCCCGCTGTG -3'
Posted On 2013-07-24