Incidental Mutation 'R0002:Bcl2'
| ID |
157129 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bcl2
|
| Ensembl Gene |
ENSMUSG00000057329 |
| Gene Name |
B cell leukemia/lymphoma 2 |
| Synonyms |
Bcl-2, C430015F12Rik, D830018M01Rik |
| MMRRC Submission |
038298-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.910)
|
| Stock # |
R0002 (G1)
|
| Quality Score |
79 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
106465908-106642004 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106640241 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 124
(R124G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139856
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112751]
[ENSMUST00000189999]
|
| AlphaFold |
P10417 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112751
AA Change: R124G
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108371
Gene: ENSMUSG00000057329
AA Change: R124G
| Domain | Start | End | E-Value | Type |
|---|
|
BH4
|
7 |
33 |
1.13e-12 |
SMART |
|
BCL
|
94 |
192 |
4.43e-48 |
SMART |
|
transmembrane domain
|
211 |
233 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000189999
AA Change: R124G
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139856
Gene: ENSMUSG00000057329
AA Change: R124G
| Domain | Start | End | E-Value | Type |
|---|
|
BH4
|
7 |
33 |
1.13e-12 |
SMART |
|
BCL
|
94 |
192 |
4.43e-48 |
SMART |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.1%
|
| Validation Efficiency |
97% (36/37) |
| 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: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Catsper1 |
A |
G |
19: 5,391,551 (GRCm39) |
|
probably benign |
Het |
| Ccdc125 |
C |
T |
13: 100,830,114 (GRCm39) |
Q295* |
probably null |
Het |
| Cdhr5 |
G |
T |
7: 140,849,933 (GRCm39) |
|
probably null |
Het |
| Dhx36 |
A |
C |
3: 62,388,260 (GRCm39) |
L625W |
probably damaging |
Het |
| Icam5 |
T |
A |
9: 20,944,801 (GRCm39) |
D121E |
probably benign |
Het |
| Ncoa1 |
A |
G |
12: 4,340,885 (GRCm39) |
V849A |
probably benign |
Het |
| Nuak1 |
A |
T |
10: 84,211,231 (GRCm39) |
W286R |
probably damaging |
Het |
| Pate14 |
A |
T |
9: 36,548,655 (GRCm39) |
D59E |
probably damaging |
Het |
| Prkag3 |
T |
C |
1: 74,783,947 (GRCm39) |
D312G |
probably damaging |
Het |
| Sbk3 |
T |
C |
7: 4,973,630 (GRCm39) |
D17G |
probably damaging |
Het |
| Slc26a5 |
T |
A |
5: 22,019,981 (GRCm39) |
I530F |
probably damaging |
Het |
| Spink12 |
T |
C |
18: 44,240,763 (GRCm39) |
C50R |
probably damaging |
Het |
| Sult3a2 |
T |
C |
10: 33,655,803 (GRCm39) |
I59V |
possibly damaging |
Het |
| Tapbp |
C |
T |
17: 34,144,606 (GRCm39) |
A234V |
probably damaging |
Het |
| Tnr |
T |
C |
1: 159,701,770 (GRCm39) |
Y624H |
probably damaging |
Het |
| Zfp560 |
T |
C |
9: 20,258,813 (GRCm39) |
Y683C |
probably damaging |
Het |
|
| Other mutations in Bcl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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'- ATCCAGGTGTGCAGATGC -3'
(R):5'- ACCCAATGCCCGCTGTG -3'
|
| Posted On |
2014-02-14 |
Incidental Mutation