Mutagenetix > Incidental Mutation

Incidental Mutation 'R4717:Bace2'

354171

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

041984-MU

Accession Numbers

Essential gene?

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

Stock #

R4717 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97356742-97442936 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 97436873 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 508 (L508Q)

Ref Sequence

ENSEMBL: ENSMUSP00000043918 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000047275
AA Change: L508Q

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

SMART Domains

Protein: ENSMUSP00000043918
Gene: ENSMUSG00000040605
AA Change: L508Q

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	C	10: 29,221,787	L60P	probably damaging	Het
Acsf2	T	G	11: 94,559,546	M512L	probably benign	Het
Ahrr	T	A	13: 74,215,766	H312L	probably benign	Het
Akr1c18	T	C	13: 4,136,718	M244V	probably benign	Het
Aldh3b2	A	G	19: 3,981,128	Y459C	probably damaging	Het
Arhgap29	A	T	3: 122,009,958	I796L	possibly damaging	Het
Arrdc4	T	A	7: 68,741,658	D287V	probably damaging	Het
Astn2	A	T	4: 65,644,754	I930N	possibly damaging	Het
Baz2a	G	T	10: 128,124,942	C1537F	possibly damaging	Het
Cad	A	G	5: 31,066,686		probably null	Het
Capn5	A	T	7: 98,123,919	I626N	probably benign	Het
Car8	A	T	4: 8,169,685	N274K	probably damaging	Het
Casp14	T	C	10: 78,715,124	I76V	probably benign	Het
Ccdc88c	A	G	12: 100,916,666	V1649A	probably benign	Het
Cemip	A	T	7: 83,947,280	I1092N	probably damaging	Het
Clspn	A	G	4: 126,560,056	N91D	probably damaging	Het
Cpxm2	A	G	7: 132,054,845	Y563H	possibly damaging	Het
Csnk1g2	T	C	10: 80,637,915	V72A	probably benign	Het
Cyp46a1	T	C	12: 108,352,026		probably null	Het
Cyp4x1	T	C	4: 115,121,705	H206R	probably benign	Het
Dapk1	T	A	13: 60,726,662		probably null	Het
Ddx1	A	G	12: 13,240,887	W76R	probably damaging	Het
Dhx29	G	A	13: 112,946,935	R508H	unknown	Het
Dnah2	T	C	11: 69,429,357	D3962G	probably benign	Het
Dnajc14	T	A	10: 128,806,244	C12S	possibly damaging	Het
Dock1	T	C	7: 134,848,170	I804T	probably damaging	Het
Efs	G	T	14: 54,920,344	S170Y	probably damaging	Het
Eml4	G	T	17: 83,448,225	W295C	probably benign	Het
Fkbp15	A	G	4: 62,308,069	S748P	probably damaging	Het
Ghr	T	G	15: 3,319,753	I648L	possibly damaging	Het
Gigyf1	T	A	5: 137,525,232	I942N	probably damaging	Het
Gm960	A	G	19: 4,625,873		probably benign	Het
Gpam	T	A	19: 55,075,614	E682D	probably benign	Het
Gsr	A	T	8: 33,693,858	K383*	probably null	Het
Hapln1	C	A	13: 89,605,460	S248R	probably benign	Het
Haus2	G	T	2: 120,619,102	R209L	probably benign	Het
Hhatl	A	G	9: 121,789,877	F63S	probably damaging	Het
Hmcn1	A	G	1: 150,619,065	M4091T	probably benign	Het
Hspb7	A	G	4: 141,422,585	D94G	probably damaging	Het
Irf6	T	A	1: 193,167,434		probably null	Het
Itgb2	T	A	10: 77,546,044	L60*	probably null	Het
Jmjd1c	C	T	10: 67,158,051	Q104*	probably null	Het
Kcnh1	A	G	1: 192,276,717	D193G	probably damaging	Het
Klhl25	G	T	7: 75,866,780	C478F	probably damaging	Het
Klhl3	T	C	13: 58,030,516	D267G	probably damaging	Het
L3mbtl4	T	G	17: 68,455,713	H80Q	probably null	Het
Lhcgr	C	A	17: 88,742,467	V544F	probably benign	Het
Mfsd4a	T	C	1: 132,057,895	N168D	probably benign	Het
Mmp3	A	G	9: 7,449,881	Q255R	possibly damaging	Het
Mrgprb3	C	A	7: 48,643,252	G184C	probably benign	Het
Mtpap	C	T	18: 4,396,394	A562V	possibly damaging	Het
Nid1	T	C	13: 13,506,501	V1072A	probably benign	Het
Nsf	T	G	11: 103,823,769	K728T	probably damaging	Het
Olfr1328	T	C	4: 118,934,429	N140D	probably benign	Het
Olfr23	T	A	11: 73,940,815	S190T	possibly damaging	Het
Olfr448	T	C	6: 42,897,224	Y258H	probably damaging	Het
Olfr530	T	C	7: 140,373,415	N65S	probably damaging	Het
Olfr725	A	T	14: 50,035,364	V13E	probably damaging	Het
Pcsk5	A	T	19: 17,525,267	C894S	probably damaging	Het
Pde2a	A	G	7: 101,494,672	D166G	probably benign	Het
Pfpl	G	A	19: 12,429,254	E290K	probably benign	Het
Pi4kb	A	C	3: 94,998,851	I570L	probably damaging	Het
Plxnb2	A	T	15: 89,157,419	C1727*	probably null	Het
Poln	A	T	5: 34,129,448	D125E	possibly damaging	Het
Pomgnt1	A	G	4: 116,154,215	D259G	possibly damaging	Het
Prx	A	T	7: 27,516,727	M218L	probably benign	Het
Pxn	A	T	5: 115,551,942	Q342L	probably damaging	Het
Rhpn2	A	G	7: 35,334,350	D3G	possibly damaging	Het
Rnase2b	C	T	14: 51,162,717	T85I	possibly damaging	Het
Rnaseh2b	C	A	14: 62,353,626	T142K	probably damaging	Het
Sacs	T	C	14: 61,212,855	S4117P	probably damaging	Het
Sdk2	T	C	11: 113,854,369	N700S	probably damaging	Het
Sec62	A	C	3: 30,809,871	K101Q	unknown	Het
Sel1l2	A	C	2: 140,230,023	L659R	possibly damaging	Het
Sept11	A	G	5: 93,156,956	I211V	possibly damaging	Het
Slc25a42	C	T	8: 70,189,457	E112K	probably damaging	Het
Spem2	T	C	11: 69,817,783	N119D	probably benign	Het
Themis	G	A	10: 28,789,752	E604K	probably benign	Het
Tie1	T	C	4: 118,486,217	K150E	probably damaging	Het
Ubap2	G	A	4: 41,218,333	T258I	possibly damaging	Het
Ushbp1	C	T	8: 71,385,669	A664T	probably damaging	Het
Vmn1r1	T	C	1: 182,157,209	N297S	possibly damaging	Het
Vmn1r173	A	C	7: 23,703,212	I291L	probably damaging	Het
Yy1	A	G	12: 108,794,046	I212V	possibly damaging	Het
Zfp442	A	T	2: 150,408,229	F527L	probably damaging	Het
Zyg11b	T	A	4: 108,241,872	H632L	probably damaging	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
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
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'- CAGCAACTGTGTTCCAGCAC -3'
(R):5'- CCAATGCACTGTTTTGGTTCAC -3'

Sequencing Primer
(F):5'- ATGCCCTGATGAGTGTGT -3'
(R):5'- ATGCACTGTTTTGGTTCACAATGAG -3'

Posted On

2015-10-21