Mutagenetix > Incidental Mutation

Incidental Mutation 'R6864:Bcl2'

535786

Institutional Source

Beutler Lab

Gene Symbol

Bcl2

Ensembl Gene

ENSMUSG00000057329

Gene Name

B cell leukemia/lymphoma 2

Synonyms

Bcl-2, C430015F12Rik, D830018M01Rik

MMRRC Submission

044964-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.916) question?

Stock #

R6864 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106465908-106642004 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106471011 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 232 (Y232N)

Ref Sequence

ENSEMBL: ENSMUSP00000108371 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112751]

AlphaFold

P10417

Predicted Effect

probably damaging
Transcript: ENSMUST00000112751
AA Change: Y232N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108371
Gene: ENSMUSG00000057329
AA Change: Y232N

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

Meta Mutation Damage Score

0.6368

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

100% (60/60)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	C	T	17: 57,785,879 (GRCm39)	T875I	probably damaging	Het
Anln	A	T	9: 22,293,545 (GRCm39)	S33T	probably benign	Het
Anxa6	T	C	11: 54,877,011 (GRCm39)	T541A	probably benign	Het
Atxn2	C	T	5: 121,917,557 (GRCm39)	R334W	probably damaging	Het
AU040320	T	A	4: 126,741,612 (GRCm39)	V940D	probably damaging	Het
Bmp7	A	G	2: 172,781,855 (GRCm39)	V3A	probably benign	Het
Calr	A	T	8: 85,571,557 (GRCm39)	H145Q	probably damaging	Het
Camta2	T	A	11: 70,562,792 (GRCm39)	T976S	probably benign	Het
Ccnk	G	A	12: 108,168,473 (GRCm39)		probably benign	Het
Cntln	T	C	4: 85,015,029 (GRCm39)	S1107P	probably damaging	Het
Cradd	T	C	10: 95,011,789 (GRCm39)	D117G	probably damaging	Het
Dcaf7	C	T	11: 105,937,647 (GRCm39)	T90I	probably damaging	Het
Defb30	T	A	14: 63,273,552 (GRCm39)		probably null	Het
Dock4	T	A	12: 40,795,745 (GRCm39)	I854N	probably damaging	Het
Dym	T	A	18: 75,189,809 (GRCm39)	Y132*	probably null	Het
Eef1a2	T	C	2: 180,791,477 (GRCm39)	T341A	probably benign	Het
Eml2	T	C	7: 18,930,206 (GRCm39)	V309A	probably damaging	Het
Flnb	C	T	14: 7,905,640 (GRCm38)	P1130L	possibly damaging	Het
Hivep3	C	A	4: 119,952,085 (GRCm39)	Q134K	possibly damaging	Het
Kbtbd2	T	A	6: 56,757,011 (GRCm39)	K242*	probably null	Het
Kel	A	G	6: 41,680,694 (GRCm39)		probably null	Het
Lcorl	T	A	5: 45,904,546 (GRCm39)	K177N	probably damaging	Het
Mbd3l2	A	G	9: 18,354,795 (GRCm39)		probably benign	Het
Mcm3ap	A	G	10: 76,343,313 (GRCm39)	D1735G	probably damaging	Het
Ms4a1	C	A	19: 11,230,542 (GRCm39)		probably null	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Mylk	C	A	16: 34,694,520 (GRCm39)	P193Q	probably benign	Het
Or1j11	T	A	2: 36,311,832 (GRCm39)	C141S	probably damaging	Het
Or2y16	G	T	11: 49,334,767 (GRCm39)	A30S	probably benign	Het
Or2y17	A	T	11: 49,231,580 (GRCm39)	T74S	probably damaging	Het
Or4d10b	A	T	19: 12,036,777 (GRCm39)	F113Y	probably damaging	Het
Or4f52	C	T	2: 111,061,542 (GRCm39)	V199I	probably benign	Het
Otogl	C	T	10: 107,663,667 (GRCm39)	S968N	probably damaging	Het
Oxr1	T	G	15: 41,686,783 (GRCm39)	V555G	probably damaging	Het
Parp12	T	C	6: 39,088,670 (GRCm39)	I189V	probably benign	Het
Peg3	T	C	7: 6,715,761 (GRCm39)	Y103C	probably damaging	Het
Plekhh2	T	C	17: 84,925,427 (GRCm39)	V1408A	probably benign	Het
Prkacb	T	C	3: 146,451,133 (GRCm39)	Y204C	probably damaging	Het
Prkch	A	G	12: 73,806,391 (GRCm39)	E546G	probably damaging	Het
Prss12	C	A	3: 123,241,033 (GRCm39)	H76N	probably benign	Het
Rai14	G	T	15: 10,633,254 (GRCm39)	S45R	possibly damaging	Het
Samd9l	T	A	6: 3,374,750 (GRCm39)	D837V	probably benign	Het
Slc22a6	G	T	19: 8,595,805 (GRCm39)	C49F	probably damaging	Het
Slc2a2	T	A	3: 28,775,874 (GRCm39)	I328N	probably damaging	Het
Slc35f4	T	C	14: 49,556,310 (GRCm39)	I148V	possibly damaging	Het
Stk32b	A	T	5: 37,606,149 (GRCm39)		probably null	Het
Tasor	T	A	14: 27,183,115 (GRCm39)	F525I	probably damaging	Het
Tktl2	T	C	8: 66,964,991 (GRCm39)	I183T	probably damaging	Het
Tmem175	A	C	5: 108,793,845 (GRCm39)	H325P	probably damaging	Het
Tns3	A	G	11: 8,443,196 (GRCm39)	V389A	probably damaging	Het
Trappc9	A	T	15: 72,809,011 (GRCm39)		probably null	Het
Trim28	T	A	7: 12,763,385 (GRCm39)	F509I	possibly damaging	Het
Vmn1r210	T	A	13: 23,011,713 (GRCm39)	Q191L	probably benign	Het
Vmn2r24	A	T	6: 123,756,117 (GRCm39)	D63V	possibly damaging	Het
Zfp536	A	G	7: 37,267,940 (GRCm39)	L492P	probably damaging	Het
Zfp831	C	A	2: 174,488,533 (GRCm39)	N1069K	possibly damaging	Het
Zfp943	T	A	17: 22,211,593 (GRCm39)	H226Q	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
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
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'- GCAGTAAATAGCTGATTCGACC -3'
(R):5'- GGCCATGATATCTCTTGGTGGC -3'

Sequencing Primer
(F):5'- GATTCGACCATTTGCCTGAATG -3'
(R):5'- CCATGATATCTCTTGGTGGCTAACAG -3'

Posted On

2018-10-18