Mutagenetix > Incidental Mutation

Incidental Mutation 'R3925:Becn2'

474852

Institutional Source

Beutler Lab

Gene Symbol

Becn2

Ensembl Gene

Gene Name

beclin 2

Synonyms

Gm38100, LOC226720, Gm104

MMRRC Submission

040916-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R3925 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

175747895-175749791 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 175748852 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 306 (V306A)

Ref Sequence

ENSEMBL: ENSMUSP00000144267 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000194391] [ENSMUST00000201297]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000194391
AA Change: V306A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000144267
Gene: ENSMUSG00000104158
AA Change: V306A

Domain	Start	End	E-Value	Type
low complexity region	12	26	N/A	INTRINSIC
Pfam:APG6	126	440	1.2e-94	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201297
AA Change: V306A

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

SMART Domains

Protein: ENSMUSP00000143887
Gene: ENSMUSG00000104158
AA Change: V306A

Domain	Start	End	E-Value	Type
low complexity region	12	26	N/A	INTRINSIC
Pfam:APG6	126	440	6.1e-95	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

97% (30/31)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic and preweaning lethality with imapired basal and starvation-induced autophagy. Mice heterozygous for this allele exhibit increased susteptibility to obesity, insulin resistance and impaired glucosetolerance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	G	A	13: 81,726,891 (GRCm39)	T487I	possibly damaging	Het
Amn	T	C	12: 111,242,114 (GRCm39)	V367A	possibly damaging	Het
C230029F24Rik	AGAAAG	A	1: 49,350,088 (GRCm39)		noncoding transcript	Het
Cdkl1	G	T	12: 69,803,373 (GRCm39)	R168S	probably damaging	Het
Cfap43	T	C	19: 47,785,555 (GRCm39)	K445R	probably benign	Het
Crct1	C	A	3: 92,922,014 (GRCm39)		probably benign	Het
Eif4e	G	A	3: 138,261,198 (GRCm39)	G164D	probably damaging	Het
Eno1	T	C	4: 150,324,025 (GRCm39)		probably null	Het
Hmcn2	G	A	2: 31,343,169 (GRCm39)	R4565Q	probably benign	Het
Itgal	A	T	7: 126,923,709 (GRCm39)		probably benign	Het
Klhl1	A	T	14: 96,584,316 (GRCm39)	C305S	possibly damaging	Het
Ms4a2	A	G	19: 11,596,312 (GRCm39)	M139T	probably benign	Het
Nr2e3	C	T	9: 59,855,716 (GRCm39)	R213H	probably damaging	Het
Onecut2	A	G	18: 64,474,591 (GRCm39)	K381E	probably damaging	Het
Or2t43	T	A	11: 58,457,652 (GRCm39)	H173L	probably benign	Het
Or52n1	T	A	7: 104,383,396 (GRCm39)	E58D	probably benign	Het
Or5t17	A	G	2: 86,832,718 (GRCm39)	Y135C	possibly damaging	Het
Pabpc1l	T	A	2: 163,869,596 (GRCm39)		probably benign	Het
Prim2	A	G	1: 33,572,380 (GRCm39)	L253P	probably damaging	Het
Pycr1	T	C	11: 120,532,961 (GRCm39)	T100A	probably benign	Het
Qrfpr	T	C	3: 36,276,072 (GRCm39)	N106S	possibly damaging	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Selenoi	T	A	5: 30,461,086 (GRCm39)	D107E	probably damaging	Het
Synrg	C	T	11: 83,931,725 (GRCm39)	P1321S	probably benign	Het
Trgv7	A	G	13: 19,362,644 (GRCm39)	Y111C	probably damaging	Het
Trp53rkb	A	G	2: 166,637,392 (GRCm39)	Y116C	probably damaging	Het
Usp34	T	A	11: 23,293,640 (GRCm39)	F245I	probably benign	Het
Utrn	C	T	10: 12,573,786 (GRCm39)	V1095I	probably benign	Het
Xpnpep1	T	C	19: 52,980,128 (GRCm39)	H632R	probably damaging	Het
Zfp735	T	C	11: 73,601,950 (GRCm39)	I298T	probably benign	Het
Zfp953	T	A	13: 67,496,002 (GRCm39)	Y13F	probably damaging	Het

Other mutations in Becn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3623:Becn2	UTSW	1	175,748,197 (GRCm39)	missense	possibly damaging	0.88
R3922:Becn2	UTSW	1	175,748,852 (GRCm39)	missense	probably benign	0.00
R3926:Becn2	UTSW	1	175,748,852 (GRCm39)	missense	probably benign	0.00
R5192:Becn2	UTSW	1	175,748,408 (GRCm39)	missense	probably benign	0.24
R5275:Becn2	UTSW	1	175,748,336 (GRCm39)	missense	probably benign	0.07
R5666:Becn2	UTSW	1	175,749,179 (GRCm39)	missense	probably damaging	1.00
R5670:Becn2	UTSW	1	175,749,179 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-04-14