Mutagenetix > Incidental Mutation

Incidental Mutation 'R9548:Bcl2'

720217

Institutional Source

Beutler Lab

Gene Symbol

Bcl2

Ensembl Gene

ENSMUSG00000057329

Gene Name

B cell leukemia/lymphoma 2

Synonyms

Bcl-2, C430015F12Rik, D830018M01Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.916) question?

Stock #

R9548 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106465908-106642004 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 106640508 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 35 (A35S)

Ref Sequence

ENSEMBL: ENSMUSP00000108371 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112751] [ENSMUST00000189999]

AlphaFold

P10417

Predicted Effect

probably benign
Transcript: ENSMUST00000112751
AA Change: A35S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000108371
Gene: ENSMUSG00000057329
AA Change: A35S

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 benign
Transcript: ENSMUST00000189999
AA Change: A35S

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000139856
Gene: ENSMUSG00000057329
AA Change: A35S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.5%

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
Ankfy1	G	A	11: 72,641,005 (GRCm39)		probably null	Het
Arid1b	A	G	17: 5,385,262 (GRCm39)	Y1340C	probably damaging	Het
Brf2	A	T	8: 27,614,623 (GRCm39)	S188T	probably benign	Het
Carmil1	C	A	13: 24,460,516 (GRCm39)	G21V	probably damaging	Het
Cavin4	T	C	4: 48,663,956 (GRCm39)	V112A	probably benign	Het
Cd300lf	T	C	11: 115,007,858 (GRCm39)	E319G	probably benign	Het
Cd44	A	T	2: 102,661,832 (GRCm39)	D587E	possibly damaging	Het
Cfap53	A	T	18: 74,438,040 (GRCm39)	T239S	possibly damaging	Het
Cma2	A	C	14: 56,211,256 (GRCm39)	I239L	probably damaging	Het
Cnot1	A	T	8: 96,482,854 (GRCm39)	M733K	probably benign	Het
Cyp2f2	A	G	7: 26,829,170 (GRCm39)	D225G	probably benign	Het
Cyp4f40	G	A	17: 32,890,158 (GRCm39)	R276H	probably benign	Het
Cytip	A	T	2: 58,041,141 (GRCm39)	F88L	probably damaging	Het
Dnaaf2	T	C	12: 69,244,776 (GRCm39)	N95S	probably damaging	Het
Dnah5	C	A	15: 28,328,025 (GRCm39)	T2133K	possibly damaging	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Elapor2	G	A	5: 9,490,859 (GRCm39)	G623D	probably damaging	Het
Epn2	A	T	11: 61,436,988 (GRCm39)	S195T	probably benign	Het
Exoc3	A	T	13: 74,330,285 (GRCm39)	Y521N	possibly damaging	Het
Fbxo10	C	A	4: 45,058,970 (GRCm39)	V256L	probably damaging	Het
Fis1	A	T	5: 136,991,907 (GRCm39)	T34S	probably benign	Het
Gm10309	A	T	17: 86,806,161 (GRCm39)	C118S	unknown	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Hook1	T	A	4: 95,891,808 (GRCm39)	V340E	probably damaging	Het
Ifng	C	A	10: 118,277,128 (GRCm39)	H23Q	probably benign	Het
Lect2	C	T	13: 56,694,660 (GRCm39)	E32K	probably benign	Het
Lrp1	T	G	10: 127,388,733 (GRCm39)	T3239P	probably damaging	Het
Lrrc14b	T	A	13: 74,511,996 (GRCm39)	Y28F	probably benign	Het
Maml3	A	T	3: 51,763,791 (GRCm39)	V391E	possibly damaging	Het
Map3k8	C	T	18: 4,349,141 (GRCm39)	R59H	probably benign	Het
Med1	G	T	11: 98,070,884 (GRCm39)	L120I	possibly damaging	Het
Muc5b	C	A	7: 141,421,648 (GRCm39)	H4349N	possibly damaging	Het
Myo1h	C	T	5: 114,499,154 (GRCm39)	P110S	probably benign	Het
Nol10	T	G	12: 17,466,144 (GRCm39)	I513S	possibly damaging	Het
Nphs1	C	T	7: 30,180,875 (GRCm39)	S1093F	probably benign	Het
Or12e10	A	T	2: 87,641,097 (GRCm39)	N311I	probably damaging	Het
Or4b1b	T	C	2: 90,111,991 (GRCm39)	*309W	probably null	Het
Or56b1b	A	T	7: 108,164,334 (GRCm39)	S223T	possibly damaging	Het
Or5p72	A	T	7: 108,022,416 (GRCm39)	T213S	possibly damaging	Het
Or5w8	A	T	2: 87,688,040 (GRCm39)	I174F	probably damaging	Het
Pcdh17	A	T	14: 84,685,402 (GRCm39)	Y623F	possibly damaging	Het
Pdzd8	T	A	19: 59,289,826 (GRCm39)	I525F	probably benign	Het
Peak1	G	T	9: 56,113,917 (GRCm39)	Q1675K	probably benign	Het
Perm1	T	C	4: 156,302,290 (GRCm39)	V278A	probably benign	Het
Ppp2r5d	G	A	17: 46,998,527 (GRCm39)	R115C	probably damaging	Het
Rnf169	A	T	7: 99,574,690 (GRCm39)	L635Q	probably damaging	Het
Sacs	A	G	14: 61,440,692 (GRCm39)	T913A	probably benign	Het
Sh3bp1	A	T	15: 78,788,673 (GRCm39)	I233F	possibly damaging	Het
Skint9	T	G	4: 112,276,346 (GRCm39)	L8F	probably benign	Het
Slc1a4	A	T	11: 20,258,041 (GRCm39)	N360K	probably damaging	Het
Slc22a16	T	A	10: 40,460,865 (GRCm39)	Y243*	probably null	Het
Slc22a19	C	A	19: 7,659,219 (GRCm39)		probably null	Het
Smarcal1	T	C	1: 72,671,999 (GRCm39)	I840T	possibly damaging	Het
Spata13	A	G	14: 60,991,303 (GRCm39)	K1019E	possibly damaging	Het
Steap1	A	G	5: 5,790,700 (GRCm39)	S83P	possibly damaging	Het
Synj2bp	T	C	12: 81,551,382 (GRCm39)	H78R	probably damaging	Het
Tcstv7a	T	A	13: 120,289,924 (GRCm39)	I91F	probably benign	Het
Tjp3	T	C	10: 81,113,833 (GRCm39)	E475G	probably damaging	Het
Top3a	A	G	11: 60,644,768 (GRCm39)	V312A	probably benign	Het
Traip	C	A	9: 107,833,099 (GRCm39)	T45N	probably damaging	Het
Ttn	T	C	2: 76,573,691 (GRCm39)	Y25734C	probably damaging	Het
Unc79	T	A	12: 102,977,495 (GRCm39)	V166D	probably damaging	Het
Urgcp	C	A	11: 5,667,622 (GRCm39)	V282F	possibly damaging	Het
Vmn1r184	G	A	7: 25,966,734 (GRCm39)	S160N	probably benign	Het
Wdfy3	T	C	5: 102,033,059 (GRCm39)	D2231G	probably damaging	Het
Zan	C	T	5: 137,401,323 (GRCm39)	G4132D	unknown	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
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

Predicted Primers

PCR Primer
(F):5'- ACTGGACATCTCTGCGAAGTC -3'
(R):5'- GCACATCCAATAAAAGAGCTGG -3'

Sequencing Primer
(F):5'- ATCTCTGCGAAGTCACGACG -3'
(R):5'- CTTCTTTTCGGGGAAGGA -3'

Posted On

2022-07-18