Mutagenetix > Incidental Mutation

Incidental Mutation 'R8026:Bace2'

617742

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R8026 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97356742-97442936 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97436852 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 501 (V501A)

Ref Sequence

ENSEMBL: ENSMUSP00000043918 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000047275
AA Change: V501A

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000043918
Gene: ENSMUSG00000040605
AA Change: V501A

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: ENSMUST00000231892

Meta Mutation Damage Score

0.0920

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (66/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	T	C	5: 24,406,725	V513A	probably damaging	Het
Acsf2	C	T	11: 94,562,888	V416M	probably damaging	Het
Adrm1	G	A	2: 180,175,209	A225T	unknown	Het
Aldh9a1	T	C	1: 167,352,667		probably null	Het
Apbb2	T	C	5: 66,451,644	D220G	probably benign	Het
B230118H07Rik	A	T	2: 101,570,644		probably benign	Het
Camsap1	T	C	2: 25,938,202	N1170S	probably benign	Het
Casr	A	G	16: 36,495,617	V697A	probably damaging	Het
Clcn1	T	C	6: 42,307,661		probably null	Het
Cobl	T	C	11: 12,253,459	K1081R	probably benign	Het
Ctr9	T	A	7: 111,033,892	L116I	probably damaging	Het
Dennd4a	T	C	9: 64,873,030	F616S	probably damaging	Het
Dynlt1a	C	T	17: 6,311,814	G30S	possibly damaging	Het
Eif1	T	C	11: 100,320,448	S23P	possibly damaging	Het
Eml6	A	C	11: 29,749,973	L1721R	possibly damaging	Het
Fscb	A	G	12: 64,474,275	I139T	probably benign	Het
Fstl4	A	G	11: 53,068,669	E179G	probably damaging	Het
Fuom	T	C	7: 140,100,154	T95A		Het
Gigyf1	C	T	5: 137,525,478	H1001Y	probably damaging	Het
Gm21886	T	A	18: 80,089,746	S66C	probably damaging	Het
Helz2	G	A	2: 181,240,205	T265I	probably benign	Het
Hs6st3	G	T	14: 119,869,556	V459F	probably damaging	Het
Ido2	A	G	8: 24,535,140		probably null	Het
Idua	A	G	5: 108,670,249	I96V	probably benign	Het
Inpp5j	A	G	11: 3,495,171	S494P		Het
Krt19	A	G	11: 100,141,383	V285A	probably damaging	Het
Krt71	T	G	15: 101,738,382	D297A	possibly damaging	Het
L3hypdh	G	A	12: 72,084,949	R70C	probably damaging	Het
Masp1	T	C	16: 23,484,406	Y324C	probably damaging	Het
Mfap2	A	G	4: 141,013,803	D25G	possibly damaging	Het
Mmp17	G	A	5: 129,595,084		probably null	Het
Mroh7	G	A	4: 106,721,437	P15S	probably benign	Het
Muc5b	T	A	7: 141,863,636	C3440S	probably benign	Het
Naip5	C	A	13: 100,245,898	S101I	probably damaging	Het
Neb	A	T	2: 52,223,048	Y1066N		Het
Nop56	T	A	2: 130,277,268	C38S	probably benign	Het
Nup214	T	A	2: 32,033,350	L1297Q	possibly damaging	Het
Oasl2	C	A	5: 114,902,268		probably benign	Het
Olfr1242	A	G	2: 89,493,788	F175L	probably damaging	Het
Olfr192	T	C	16: 59,098,368	H208R	unknown	Het
Olfr48	T	C	2: 89,844,929	N15D	probably benign	Het
Olfr66	A	G	7: 103,881,697	V182A	possibly damaging	Het
Olfr68	T	A	7: 103,778,340	I2F	probably benign	Het
Olfr967	T	C	9: 39,750,796	S137P	possibly damaging	Het
Pacrg	C	T	17: 10,576,567	V155I	probably benign	Het
Patz1	A	T	11: 3,307,658	M96L	probably benign	Het
Pcca	A	G	14: 122,638,382	D141G	probably benign	Het
Ptprr	A	G	10: 116,048,170	Y44C	probably damaging	Het
Rad51ap1	A	G	6: 126,934,712		probably null	Het
Raet1e	A	C	10: 22,181,299	D174A	probably damaging	Het
Rhobtb2	T	G	14: 69,796,765	D337A	probably benign	Het
Sbf2	T	C	7: 110,335,387	K1377E	probably damaging	Het
Sh3pxd2b	A	G	11: 32,411,567	K260E	probably damaging	Het
Slc4a8	A	T	15: 100,787,289	I234F	possibly damaging	Het
Srgap3	C	T	6: 112,739,364	R625H	probably benign	Het
Tbxas1	C	T	6: 39,027,896	T359I	probably benign	Het
Trim9	T	A	12: 70,290,387	S309C	probably benign	Het
Ttn	G	A	2: 76,829,139	P12191S	unknown	Het
Unc80	A	G	1: 66,483,304	R222G	possibly damaging	Het
Vmn1r202	A	T	13: 22,502,144	H34Q	possibly damaging	Het
Vmn2r61	T	A	7: 42,266,717	N251K	probably benign	Het
Vmn2r67	A	T	7: 85,136,716	Y694N	probably damaging	Het
Vwde	A	G	6: 13,205,783	F255S	probably benign	Het
Zfp532	T	G	18: 65,625,156	I720R	possibly damaging	Het
Zfp819	A	G	7: 43,617,895	T601A	probably benign	Het
Zfp853	G	T	5: 143,288,525	Q462K	unknown	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
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
R8480:Bace2	UTSW	16	97413470	missense	probably damaging	1.00
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'- TCCACGGAAGACATAGCCAG -3'
(R):5'- ACTGTTTTGGTTCACAATGAGG -3'

Sequencing Primer
(F):5'- GACATAGCCAGCAACTGTGTTC -3'
(R):5'- TCAAGAGTAATCAAGATACAGTCTGG -3'

Posted On

2020-01-23