Incidental Mutation 'R0107:Bcl2'
ID 33295
Institutional Source Beutler Lab
Gene Symbol Bcl2
Ensembl Gene ENSMUSG00000057329
Gene Name B cell leukemia/lymphoma 2
Synonyms Bcl-2, C430015F12Rik, D830018M01Rik
MMRRC Submission 038393-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.910) question?
Stock # R0107 (G1)
Quality Score 207
Status Validated (trace)
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: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 90.6%
Validation Efficiency 99% (71/72)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 T A 3: 59,659,737 (GRCm39) L397I possibly damaging Het
Abca1 A G 4: 53,080,834 (GRCm39) V825A probably benign Het
Adamts7 T C 9: 90,062,773 (GRCm39) I409T possibly damaging Het
Adck1 T C 12: 88,413,426 (GRCm39) W253R possibly damaging Het
Afg3l2 A G 18: 67,564,836 (GRCm39) F213L probably damaging Het
Ankle2 T C 5: 110,400,893 (GRCm39) V743A probably benign Het
Ankrd34c C T 9: 89,611,537 (GRCm39) R268H probably benign Het
Arb2a A G 13: 78,050,933 (GRCm39) D145G probably damaging Het
Ccdc7b T G 8: 129,904,678 (GRCm39) probably benign Het
Cd320 A T 17: 34,067,059 (GRCm39) M169L probably benign Het
Chn1 A G 2: 73,445,028 (GRCm39) Y338H probably damaging Het
Chuk T A 19: 44,085,358 (GRCm39) S263C probably damaging Het
Dennd4b C A 3: 90,180,043 (GRCm39) P663T possibly damaging Het
Dnajc24 T G 2: 105,832,259 (GRCm39) probably benign Het
Fbn2 A G 18: 58,189,275 (GRCm39) V1617A probably benign Het
Fermt2 T C 14: 45,702,279 (GRCm39) N502D probably damaging Het
Frrs1 A T 3: 116,690,365 (GRCm39) I3F probably damaging Het
Fut1 C A 7: 45,268,270 (GRCm39) Q20K possibly damaging Het
Gbf1 T C 19: 46,273,267 (GRCm39) V1709A probably benign Het
Gfra3 G T 18: 34,844,359 (GRCm39) H60Q probably benign Het
Gm10750 T A 2: 148,857,973 (GRCm39) M93L unknown Het
Hmcn1 T A 1: 150,462,766 (GRCm39) I5124L probably benign Het
Hps3 A C 3: 20,084,960 (GRCm39) L76R probably damaging Het
Ifrd1 T A 12: 40,264,080 (GRCm39) Q105L probably damaging Het
Irs2 A T 8: 11,054,691 (GRCm39) V1247E probably damaging Het
Itgal T C 7: 126,927,731 (GRCm39) probably benign Het
Ivns1abp A T 1: 151,237,321 (GRCm39) N495I probably damaging Het
Kank1 T A 19: 25,407,730 (GRCm39) probably benign Het
Mroh8 T C 2: 157,067,388 (GRCm39) Q657R probably benign Het
Mthfd1l T C 10: 3,991,838 (GRCm39) Y597H probably benign Het
Myom1 G A 17: 71,384,360 (GRCm39) V692I probably damaging Het
Or13a17 A T 7: 140,271,258 (GRCm39) M147L probably benign Het
Or1j18 T G 2: 36,624,730 (GRCm39) Y132* probably null Het
Or7g20 A G 9: 18,946,629 (GRCm39) D70G probably damaging Het
Palmd A T 3: 116,717,725 (GRCm39) H257Q probably damaging Het
Pcnx2 A T 8: 126,480,325 (GRCm39) V1994D probably benign Het
Phkb G A 8: 86,743,560 (GRCm39) G553S probably benign Het
Plekha5 G A 6: 140,537,473 (GRCm39) R646K possibly damaging Het
Ptprn A T 1: 75,232,356 (GRCm39) L453M probably damaging Het
Ptprz1 T A 6: 23,000,569 (GRCm39) D886E probably damaging Het
Rcn1 T A 2: 105,225,126 (GRCm39) I110F possibly damaging Het
Scn1a T A 2: 66,154,977 (GRCm39) T661S probably benign Het
Slc6a19 A G 13: 73,832,176 (GRCm39) Y467H possibly damaging Het
Slc9c1 T A 16: 45,395,783 (GRCm39) D611E probably benign Het
Slitrk6 T C 14: 110,989,395 (GRCm39) E104G possibly damaging Het
Spag17 A T 3: 99,958,103 (GRCm39) K920N possibly damaging Het
St3gal5 A G 6: 72,119,133 (GRCm39) S82G probably benign Het
Tlk1 T C 2: 70,544,333 (GRCm39) *767W probably null Het
Tln2 A G 9: 67,277,988 (GRCm39) V342A probably damaging Het
Tmem104 T A 11: 115,093,006 (GRCm39) M132K probably damaging Het
Tmem184c A G 8: 78,323,702 (GRCm39) S387P possibly damaging Het
Tmtc1 A G 6: 148,327,411 (GRCm39) V34A possibly damaging Het
Trim46 A G 3: 89,143,640 (GRCm39) F596S probably damaging Het
Unc79 T A 12: 103,100,784 (GRCm39) D1870E possibly damaging Het
Utp20 T C 10: 88,614,253 (GRCm39) T1234A probably benign Het
Vmn1r31 T A 6: 58,449,728 (GRCm39) T46S probably benign Het
Vps13a A T 19: 16,669,188 (GRCm39) L1341Q probably benign Het
Wdr72 A T 9: 74,117,715 (GRCm39) D821V probably damaging Het
Zfhx4 T C 3: 5,464,042 (GRCm39) L1400P probably damaging Het
Zfp217 T A 2: 169,956,794 (GRCm39) K735* probably null Het
Zfp235 A G 7: 23,836,541 (GRCm39) Q29R probably damaging Het
Zfp628 A G 7: 4,923,167 (GRCm39) Y463C probably damaging Het
Zkscan4 A G 13: 21,668,751 (GRCm39) T401A possibly 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
R0086: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 2013-05-09