Mutagenetix > Incidental Mutation

Incidental Mutation 'R2938:Bace2'

256128

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

040515-MU

Accession Numbers

Essential gene?

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

Stock #

R2938 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97356742-97442936 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 97412188 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000043918 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000047275

SMART Domains

Protein: ENSMUSP00000043918
Gene: ENSMUSG00000040605

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

0.9494

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

100% (62/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgef2	T	A	2: 166,894,733	I1775K	probably damaging	Het
Arhgap45	T	A	10: 80,029,002	M933K	probably damaging	Het
Astn2	A	T	4: 65,992,313	H427Q	possibly damaging	Het
Cacna1b	A	G	2: 24,606,528	V125A	probably benign	Het
Cbarp	T	C	10: 80,131,769	D539G	probably damaging	Het
Ccdc59	A	T	10: 105,841,527	K9M	possibly damaging	Het
Ccdc73	T	A	2: 104,975,635	L296*	probably null	Het
Cd40	G	C	2: 165,069,702	V191L	probably benign	Het
Cdc6	A	G	11: 98,910,760	I217V	probably benign	Het
Cdh15	G	A	8: 122,862,024	R279Q	probably damaging	Het
Cdr1	T	G	X: 61,185,362	D66A	unknown	Het
Cela3b	A	G	4: 137,423,263	I208T	probably benign	Het
Col1a2	A	T	6: 4,520,788	Q375L	possibly damaging	Het
Csn1s1	A	T	5: 87,677,136	Q221L	possibly damaging	Het
Cstl1	T	A	2: 148,751,057	I44N	possibly damaging	Het
Depdc5	G	A	5: 32,901,621		probably null	Het
Dthd1	A	G	5: 62,842,957	I541V	probably benign	Het
Eml6	G	A	11: 29,833,049		probably benign	Het
Fkbp15	T	A	4: 62,304,663	T1000S	probably benign	Het
Gimap8	A	T	6: 48,658,796	R498S	possibly damaging	Het
Glis1	A	G	4: 107,632,291	N692D	possibly damaging	Het
Gpr83	A	G	9: 14,864,871	T163A	probably benign	Het
Hmgcr	G	A	13: 96,663,068	L173F	probably damaging	Het
Htr2b	T	A	1: 86,102,455	I173F	possibly damaging	Het
Ifna11	T	C	4: 88,820,293	L112P	probably damaging	Het
Lmod1	A	G	1: 135,363,916	K170E	probably benign	Het
Lrrtm1	A	T	6: 77,243,652	M31L	probably benign	Het
Macf1	T	C	4: 123,432,902	N2815S	probably damaging	Het
Man1c1	A	G	4: 134,702,952	I173T	possibly damaging	Het
Man2b2	A	G	5: 36,820,986	I318T	probably benign	Het
Mib1	T	A	18: 10,752,033		probably benign	Het
Myo10	T	A	15: 25,795,717	S1315T	probably damaging	Het
Nsun5	C	T	5: 135,375,463	Q375*	probably null	Het
Olfr1032	T	C	2: 86,008,013	M79T	probably damaging	Het
Olfr792	T	A	10: 129,540,615	F26Y	probably damaging	Het
Olfr984	A	T	9: 40,100,743	I249K	probably benign	Het
Opcml	A	G	9: 27,791,386	M1V	probably null	Het
Parm1	T	C	5: 91,594,469	I232T	possibly damaging	Het
Pdss1	T	A	2: 22,906,787		probably null	Het
Pfkfb2	G	A	1: 130,705,410	T202I	possibly damaging	Het
Postn	T	A	3: 54,370,310	F242Y	probably damaging	Het
Prss12	A	G	3: 123,486,976	T437A	probably benign	Het
Rap1gap2	C	A	11: 74,407,322	A491S	possibly damaging	Het
Rbm10	T	C	X: 20,647,695	L429P	possibly damaging	Het
Saraf	A	G	8: 34,168,581	N346D	probably benign	Het
Sec31b	T	C	19: 44,536,179	D93G	probably damaging	Het
Sgcg	A	T	14: 61,229,625	F175L	probably damaging	Het
Sh3rf2	A	G	18: 42,149,724	D449G	probably benign	Het
Slc9a3	T	C	13: 74,121,669	I52T	possibly damaging	Het
Tcf7	A	T	11: 52,282,783		probably null	Het
Tlr1	A	G	5: 64,925,908	V442A	probably damaging	Het
Tmub1	A	G	5: 24,445,924	*261Q	probably null	Het
Uck1	GCCAACACC	GCC	2: 32,256,076		probably benign	Het
Utp4	A	G	8: 106,922,929	D670G	probably damaging	Het
Vamp5	A	G	6: 72,369,340	V91A	probably benign	Het
Vmn1r35	A	T	6: 66,678,966	M73K	possibly damaging	Het
Vmn2r12	C	T	5: 109,091,531	E389K	probably damaging	Het
Wdsub1	T	C	2: 59,873,286	T112A	possibly damaging	Het
Xpo4	G	T	14: 57,604,440	Q473K	probably benign	Het
Xpo7	A	G	14: 70,671,690	I797T	probably damaging	Het
Zfp808	G	A	13: 62,171,218	V67M	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
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
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'- CTTCACAGTGGTCACAGCAG -3'
(R):5'- AGATAGCAGGACCATTATCCATC -3'

Sequencing Primer
(F):5'- GTGGTCACAGCAGTAAACCTCTTTC -3'
(R):5'- GCAGGACCATTATCCATCTTTTAAAG -3'

Posted On

2014-12-29