Mutagenetix > Incidental Mutation

Incidental Mutation 'R0348:Bcl2'

35959

Institutional Source

Beutler Lab

Gene Symbol

Bcl2

Ensembl Gene

ENSMUSG00000057329

Gene Name

B cell leukemia/lymphoma 2

Synonyms

Bcl-2, C430015F12Rik, D830018M01Rik

MMRRC Submission

038555-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.916) question?

Stock #

R0348 (G1)

Quality Score

225

Status

Not validated

Chromosome

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

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

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

Domain	Start	End	E-Value	Type
BH4	7	33	1.13e-12	SMART
BCL	94	192	4.43e-48	SMART

Meta Mutation Damage Score

0.4359

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.5%

Validation Efficiency

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921536K21Rik	T	C	11: 3,844,987 (GRCm39)	D34G	probably benign	Het
Adam6a	T	C	12: 113,508,337 (GRCm39)	S237P	probably damaging	Het
Adamts13	A	C	2: 26,871,092 (GRCm39)	D235A	probably benign	Het
Adgb	T	A	10: 10,233,623 (GRCm39)	M1259L	probably benign	Het
Apbb1	T	C	7: 105,214,510 (GRCm39)	Q529R	probably damaging	Het
Camta1	T	C	4: 151,670,888 (GRCm39)	T96A	possibly damaging	Het
Ccdc148	A	T	2: 58,894,084 (GRCm39)		probably null	Het
Cep170b	T	C	12: 112,703,240 (GRCm39)	Y568H	probably damaging	Het
Clca4b	A	T	3: 144,627,741 (GRCm39)	I410N	probably damaging	Het
Cnot10	G	A	9: 114,427,838 (GRCm39)	T592I	probably benign	Het
Col6a3	C	T	1: 90,755,771 (GRCm39)	A173T	probably damaging	Het
Ctcf	T	A	8: 106,402,789 (GRCm39)	C560*	probably null	Het
Daglb	G	A	5: 143,472,951 (GRCm39)	V369I	probably benign	Het
Defb19	G	A	2: 152,422,146 (GRCm39)	L8F	unknown	Het
Emcn	G	T	3: 137,078,608 (GRCm39)	E65*	probably null	Het
Etl4	G	T	2: 20,782,940 (GRCm39)	R753L	probably damaging	Het
Fam151b	T	C	13: 92,586,689 (GRCm39)	Y248C	probably benign	Het
Fmo1	T	C	1: 162,663,704 (GRCm39)	D275G	probably benign	Het
Gjd4	A	G	18: 9,280,964 (GRCm39)	V38A	possibly damaging	Het
Hivep1	T	C	13: 42,311,855 (GRCm39)	V1365A	possibly damaging	Het
Hivep2	T	C	10: 14,005,702 (GRCm39)	S767P	possibly damaging	Het
Hoxa6	T	C	6: 52,183,548 (GRCm39)	T166A	possibly damaging	Het
Ift80	G	T	3: 68,843,232 (GRCm39)	L367I	probably benign	Het
Igf2bp1	T	C	11: 95,859,719 (GRCm39)	N369S	possibly damaging	Het
Igsf11	C	A	16: 38,829,179 (GRCm39)	D24E	probably benign	Het
Ints5	C	T	19: 8,873,114 (GRCm39)	L358F	probably damaging	Het
Kbtbd3	A	G	9: 4,330,519 (GRCm39)	T298A	possibly damaging	Het
Kif28	C	A	1: 179,558,818 (GRCm39)	V297F	probably damaging	Het
Krt12	T	C	11: 99,308,771 (GRCm39)	Y422C	probably damaging	Het
Lig1	T	A	7: 13,043,122 (GRCm39)	W856R	probably damaging	Het
Liph	C	T	16: 21,786,730 (GRCm39)		probably null	Het
Lrig3	T	A	10: 125,849,317 (GRCm39)	C1012*	probably null	Het
Lrit1	A	G	14: 36,782,182 (GRCm39)	E285G	probably damaging	Het
Lrrc31	A	G	3: 30,743,377 (GRCm39)	V196A	probably benign	Het
Lrrn4	T	C	2: 132,712,363 (GRCm39)	T487A	probably benign	Het
Mllt10	T	C	2: 18,167,424 (GRCm39)	Y372H	probably damaging	Het
Mrpl50	A	T	4: 49,514,515 (GRCm39)	V52E	probably damaging	Het
Mthfd1l	T	C	10: 4,006,766 (GRCm39)	V676A	probably damaging	Het
Ncl	C	T	1: 86,284,362 (GRCm39)	D245N	possibly damaging	Het
Neil1	A	T	9: 57,054,065 (GRCm39)		probably null	Het
Nfatc3	A	G	8: 106,818,827 (GRCm39)	E515G	probably damaging	Het
Nlrp4b	A	G	7: 10,449,108 (GRCm39)	E70G	possibly damaging	Het
Nme3	A	T	17: 25,115,491 (GRCm39)	I2F	possibly damaging	Het
Nup210	G	A	6: 91,051,292 (GRCm39)	H364Y	probably benign	Het
Nxpe3	T	A	16: 55,686,898 (GRCm39)	T37S	probably benign	Het
Olfm1	T	A	2: 28,102,554 (GRCm39)	M76K	probably benign	Het
Pgbd5	A	T	8: 125,160,771 (GRCm39)	V32E	probably damaging	Het
Plcb4	T	C	2: 135,810,339 (GRCm39)	M646T	probably damaging	Het
Plekha7	G	A	7: 115,757,255 (GRCm39)	P565L	probably damaging	Het
Poc5	A	G	13: 96,535,374 (GRCm39)	D213G	probably null	Het
Poli	A	G	18: 70,656,452 (GRCm39)	I125T	probably benign	Het
Ppm1f	T	C	16: 16,721,254 (GRCm39)	M1T	probably null	Het
Psmd7	T	C	8: 108,307,523 (GRCm39)	K320R	unknown	Het
Rabggtb	A	G	3: 153,615,954 (GRCm39)	V128A	probably damaging	Het
Rasa2	A	T	9: 96,454,012 (GRCm39)	L308H	probably damaging	Het
Serpina1d	C	T	12: 103,730,034 (GRCm39)	V383M	probably benign	Het
Sipa1l1	T	C	12: 82,431,530 (GRCm39)		probably null	Het
Sos1	T	C	17: 80,715,740 (GRCm39)	T1006A	probably benign	Het
Sugp1	T	A	8: 70,522,658 (GRCm39)	Y453N	probably damaging	Het
Taf3	A	T	2: 10,047,455 (GRCm39)	D64E	probably benign	Het
Tcf19	A	T	17: 35,826,801 (GRCm39)		probably null	Het
Trim60	T	A	8: 65,453,868 (GRCm39)	H127L	probably damaging	Het
Tubb4a	C	T	17: 57,387,770 (GRCm39)	V419M	probably damaging	Het
Vmn2r22	G	T	6: 123,614,684 (GRCm39)	T302K	probably damaging	Het
Vmn2r68	T	G	7: 84,870,884 (GRCm39)	T800P	possibly damaging	Het
Zfhx2	A	C	14: 55,300,965 (GRCm39)	V2262G	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
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