Mutagenetix > Incidental Mutation

Incidental Mutation 'R4562:Bace2'

343167

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

041787-MU

Accession Numbers

Essential gene?

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

Stock #

R4562 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97356742-97442936 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 97421980 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 368 (R368Q)

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: R368Q

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

SMART Domains

Protein: ENSMUSP00000043918
Gene: ENSMUSG00000040605
AA Change: R368Q

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

noncoding transcript
Transcript: ENSMUST00000231783

Predicted Effect

probably benign
Transcript: ENSMUST00000231892

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (53/53)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	G	A	3: 36,066,182	R25K	probably benign	Het
Acap1	C	T	11: 69,885,351		probably benign	Het
Aox1	T	C	1: 58,059,056	L309P	probably damaging	Het
Arhgap8	A	C	15: 84,741,913	D63A	probably damaging	Het
Asap2	A	G	12: 21,112,093	D17G	probably damaging	Het
Atp8b1	A	T	18: 64,556,891	V590D	probably damaging	Het
Cad	G	A	5: 31,058,133	S96N	possibly damaging	Het
Csmd3	T	C	15: 47,899,844	T1303A	probably benign	Het
Defa24	A	G	8: 21,734,507		probably benign	Het
Dffb	A	G	4: 153,965,456	C317R	probably damaging	Het
Erap1	T	C	13: 74,673,659	V711A	probably benign	Het
Esco1	A	G	18: 10,595,074	S71P	possibly damaging	Het
Evpl	G	A	11: 116,233,399	T198M	possibly damaging	Het
Fam208a	A	G	14: 27,466,308	T904A	possibly damaging	Het
Gm10797	A	G	10: 67,572,685		noncoding transcript	Het
Gm10822	C	T	2: 73,899,489		noncoding transcript	Het
Gm9268	C	T	7: 43,023,562	Q130*	probably null	Het
Huwe1	A	T	X: 151,863,959	I682F	probably damaging	Het
Ift22	A	G	5: 136,912,870	E152G	probably benign	Het
Ighv3-5	T	A	12: 114,262,878	T25S	possibly damaging	Het
Ivl	CCTGCTGCTGCT	CCTGCTGCTGCTGCT	3: 92,571,955		probably benign	Het
Kcna5	T	C	6: 126,534,340	H275R	probably benign	Het
Kdm7a	C	T	6: 39,152,823	R473Q	probably damaging	Het
Klf14	G	A	6: 30,958,459	A80V	probably damaging	Het
Lrrc71	T	A	3: 87,745,408		probably benign	Het
Lypd8	T	A	11: 58,382,389		probably null	Het
Mef2b	G	A	8: 70,167,268	D345N	probably damaging	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Mtmr10	C	T	7: 64,314,159	T214M	possibly damaging	Het
Olfr1289	A	T	2: 111,483,564	M45L	probably benign	Het
Olfr309	A	G	7: 86,307,152		probably benign	Het
Olfr980	A	G	9: 40,006,281	S223P	probably damaging	Het
Orc1	T	C	4: 108,602,055		probably null	Het
P4htm	T	C	9: 108,581,996	S246G	probably null	Het
Pax2	A	G	19: 44,835,963	Y374C	unknown	Het
Pde6b	A	G	5: 108,403,368	K173E	probably benign	Het
Pde8a	T	A	7: 81,308,820	Y315*	probably null	Het
Plekhh2	A	G	17: 84,566,097	D270G	probably benign	Het
Robo4	CGG	CG	9: 37,411,490		probably null	Het
Ryr1	C	A	7: 29,074,580		probably benign	Het
Slc4a1ap	G	A	5: 31,532,029	V347M	probably damaging	Het
Tln1	C	A	4: 43,533,598	A2319S	probably damaging	Het
Tm6sf1	G	A	7: 81,859,461	A5T	probably damaging	Het
Tmem117	A	T	15: 95,094,796	M446L	probably benign	Het
Tnfrsf22	C	T	7: 143,649,576	R19Q	unknown	Het
Tnfsf11	T	C	14: 78,278,580	D316G	probably damaging	Het
Trerf1	G	A	17: 47,327,071		noncoding transcript	Het
Ttc13	A	G	8: 124,675,277	L657P	probably damaging	Het
Unc79	C	T	12: 102,991,461	T45I	probably damaging	Het
Usp3	G	T	9: 66,520,765		probably benign	Het
Wdr31	A	C	4: 62,453,922	L319W	probably damaging	Het
Zfp947	G	T	17: 22,146,143	Y183*	probably null	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
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
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'- TCCTGTTATGTGCCAGGCTG -3'
(R):5'- ACATATGAGGTGAGACCATAACATCC -3'

Sequencing Primer
(F):5'- TGGTGCCTGCTTCTCACAGG -3'
(R):5'- CCCAGGCTTAAGTTAAGACATGTTC -3'

Posted On

2015-09-24