Mutagenetix > Incidental Mutation

Incidental Mutation 'R8480:Bace2'

657503

Institutional Source

Beutler Lab

Gene Symbol

Bace2

Ensembl Gene

ENSMUSG00000040605

Gene Name

beta-site APP-cleaving enzyme 2

Synonyms

1110059C24Rik, ARP1, BAE2, ALP56, ASP21, CDA13, CEAP1

MMRRC Submission

067924-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R8480 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97356742-97442936 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 97413470 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 286 (L286Q)

Ref Sequence

ENSEMBL: ENSMUSP00000043918 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047275] [ENSMUST00000231664]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000047275
AA Change: L286Q

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

SMART Domains

Protein: ENSMUSP00000043918
Gene: ENSMUSG00000040605
AA Change: L286Q

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Asp	87	427	2.3e-47	PFAM
Pfam:TAXi_C	269	426	4.4e-16	PFAM
transmembrane domain	466	488	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000231664

Predicted Effect

probably benign
Transcript: ENSMUST00000231892

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (53/54)

MGI Phenotype

FUNCTION: This gene encodes a member of the peptidase A1 family of aspartic proteases. The encoded preproprotein undergoes proteolytic processing to generate an active endopeptidase enzyme. This transmembrane protease catalyzes the proteolysis of amyloid precursor protein to produce amyloid beta peptide. Mice lacking the encoded product exhibit increased pancreatic beta cell mass and improved glucose tolerance due to increased insulin secretion. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous mutation of this gene results in impaired APP processing by neurons and glia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	C	A	15: 8,187,458	P720Q	possibly damaging	Het
Acvr1b	G	A	15: 101,210,839	V499M	possibly damaging	Het
Adam5	G	A	8: 24,804,459	Q375*	probably null	Het
Adgrf1	G	A	17: 43,295,164	E60K	probably benign	Het
Alb	T	C	5: 90,462,771	V70A	probably damaging	Het
Aph1b	T	A	9: 66,788,427		probably benign	Het
Aste1	G	A	9: 105,396,990	R143Q	possibly damaging	Het
Aste1	A	T	9: 105,397,796	T351S	probably damaging	Het
Bach1	G	A	16: 87,719,275	G235R	probably damaging	Het
Brwd1	A	T	16: 96,047,430	H516Q	probably damaging	Het
Cc2d2a	C	A	5: 43,685,144		probably null	Het
Cdh22	T	A	2: 165,146,726	E236D	probably benign	Het
Celsr1	G	T	15: 86,033,085	S229*	probably null	Het
Celsr2	T	A	3: 108,398,902	T2029S	probably benign	Het
Col11a1	A	G	3: 114,181,394	D1234G	probably benign	Het
Cpt2	A	G	4: 107,907,760	I269T	probably damaging	Het
Dcaf7	T	A	11: 106,054,793	S323T	probably benign	Het
Ddias	G	T	7: 92,859,400	Q436K	probably benign	Het
Dlec1	G	A	9: 119,143,267		probably null	Het
Dock5	T	A	14: 67,836,410	I294F	probably benign	Het
Fat2	A	T	11: 55,282,968	D2306E	possibly damaging	Het
Gm4787	T	A	12: 81,377,506	D626V	probably damaging	Het
Gm6563	A	G	19: 23,675,926	T27A	probably benign	Het
Hadhb	T	C	5: 30,168,570		probably null	Het
Hsph1	A	T	5: 149,627,564	W406R	probably null	Het
Ighv1-66	C	T	12: 115,593,382	G27R	possibly damaging	Het
Impad1	C	T	4: 4,769,376	M246I	probably benign	Het
Krt26	T	C	11: 99,337,600	E102G	probably damaging	Het
Krt34	T	A	11: 100,040,145		probably null	Het
Krt36	T	C	11: 100,102,809	D401G	possibly damaging	Het
Loxhd1	G	A	18: 77,431,131	G326S	probably damaging	Het
Lrrc8b	A	G	5: 105,485,936	N758S	probably damaging	Het
Mkl2	A	T	16: 13,384,192		probably null	Het
Muc4	C	T	16: 32,752,993	T957I	probably benign	Het
Naip5	T	C	13: 100,222,235	Y831C	probably damaging	Het
Nfatc1	A	T	18: 80,635,644	V829E	probably benign	Het
Nmnat1	G	A	4: 149,473,370	L72F	possibly damaging	Het
Olfr1316	A	T	2: 112,129,985	D275E	possibly damaging	Het
Pcdh7	T	A	5: 58,129,065	V1161E	probably damaging	Het
Raver1	A	G	9: 21,090,280	Y86H	probably benign	Het
Recql4	G	T	15: 76,704,505	H1035Q	probably benign	Het
Sgsm1	A	T	5: 113,263,418	M814K	probably benign	Het
Sh3d19	T	G	3: 86,084,877	W71G	probably benign	Het
Sidt1	T	C	16: 44,245,166	Y759C	probably damaging	Het
Spg11	G	T	2: 122,113,079	D197E	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,866,069		probably null	Het
Ssc5d	A	T	7: 4,936,329	D588V	probably damaging	Het
Supt20	C	A	3: 54,707,116	T181K	probably damaging	Het
Szt2	A	T	4: 118,386,818	S1363R	probably benign	Het
Tbcel	G	A	9: 42,463,873		probably null	Het
Ube2e3	T	C	2: 78,918,814	L169P	probably damaging	Het
Wrn	A	G	8: 33,288,768	F595S	probably benign	Het
Zfp473	G	T	7: 44,732,899	P670Q	probably damaging	Het
Zw10	C	T	9: 49,074,999	A660V	probably benign	Het

Other mutations in Bace2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01129:Bace2	APN	16	97408430	missense	probably damaging	0.97
IGL02660:Bace2	APN	16	97415140	missense	probably damaging	1.00
IGL02669:Bace2	APN	16	97436893	makesense	probably null
R0244:Bace2	UTSW	16	97436773	splice site	probably null
R0674:Bace2	UTSW	16	97436749	missense	possibly damaging	0.93
R0906:Bace2	UTSW	16	97356941	missense	possibly damaging	0.67
R1078:Bace2	UTSW	16	97356860	missense	unknown
R1670:Bace2	UTSW	16	97412135	missense	probably damaging	0.96
R1997:Bace2	UTSW	16	97415089	missense	possibly damaging	0.93
R2050:Bace2	UTSW	16	97412136	missense	probably damaging	1.00
R2937:Bace2	UTSW	16	97412188	critical splice donor site	probably null
R2938:Bace2	UTSW	16	97412188	critical splice donor site	probably null
R3103:Bace2	UTSW	16	97422001	critical splice donor site	probably null
R3755:Bace2	UTSW	16	97436657	missense	probably benign	0.34
R4110:Bace2	UTSW	16	97436656	missense	probably benign
R4112:Bace2	UTSW	16	97436656	missense	probably benign
R4113:Bace2	UTSW	16	97436656	missense	probably benign
R4560:Bace2	UTSW	16	97421980	missense	probably damaging	1.00
R4562:Bace2	UTSW	16	97421980	missense	probably damaging	1.00
R4563:Bace2	UTSW	16	97421980	missense	probably damaging	1.00
R4717:Bace2	UTSW	16	97436873	missense	probably damaging	1.00
R5535:Bace2	UTSW	16	97413425	missense	probably damaging	1.00
R6282:Bace2	UTSW	16	97415097	missense	probably damaging	1.00
R6364:Bace2	UTSW	16	97413433	missense	probably benign	0.05
R7045:Bace2	UTSW	16	97399665	missense	probably damaging	1.00
R7241:Bace2	UTSW	16	97436798	missense	possibly damaging	0.92
R7546:Bace2	UTSW	16	97399682	missense	probably benign	0.01
R7653:Bace2	UTSW	16	97436652	missense
R8026:Bace2	UTSW	16	97436852	missense	probably benign	0.26
R8171:Bace2	UTSW	16	97424586	missense	possibly damaging	0.86
R8324:Bace2	UTSW	16	97356908	missense	possibly damaging	0.51
R8341:Bace2	UTSW	16	97356908	missense	possibly damaging	0.51
R9205:Bace2	UTSW	16	97356859	missense	unknown
R9221:Bace2	UTSW	16	97408492	missense	probably benign	0.01
X0024:Bace2	UTSW	16	97413398	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAAGCTATTGATGTAGTCACATAGG -3'
(R):5'- TTTTCCAGGAGGTCGAGAAGAG -3'

Sequencing Primer
(F):5'- GATGTAGTCACATAGGTTTGACCTC -3'
(R):5'- AGGTACTGGCTAAACGCT -3'

Posted On

2021-01-18