Mutagenetix > Incidental Mutation

Incidental Mutation 'R7241:Bace2'

563243

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 #

R7241 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97356742-97442936 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97436798 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 483 (I483T)

Ref Sequence

ENSEMBL: ENSMUSP00000043918 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047275
AA Change: I483T

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000043918
Gene: ENSMUSG00000040605
AA Change: I483T

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

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	T	C	10: 82,287,042	E3378G	probably benign	Het
Abca14	A	G	7: 120,246,961	T612A	probably damaging	Het
Acacb	G	A	5: 114,245,100	A2115T	possibly damaging	Het
Adam32	T	C	8: 24,898,494	K398R	probably benign	Het
Adam9	T	A	8: 24,950,986	I824F	possibly damaging	Het
Ahnak	A	G	19: 9,009,031	I2560V	possibly damaging	Het
Ank3	G	A	10: 69,706,814	M1I	probably null	Het
Anks1b	T	G	10: 90,512,837	I789S	probably damaging	Het
Ap2b1	T	A	11: 83,351,105	N641K	probably benign	Het
Arhgap33	A	G	7: 30,528,721	L412P	probably damaging	Het
Atp13a3	T	A	16: 30,352,277	M317L	possibly damaging	Het
B4galt5	A	G	2: 167,306,697	L167P	probably damaging	Het
C2cd3	A	C	7: 100,407,050	K177T		Het
Ccr4	T	C	9: 114,492,956	T14A	probably benign	Het
Cep250	A	T	2: 155,991,552	H1799L	probably benign	Het
Cgnl1	T	C	9: 71,724,770	Q433R	probably benign	Het
Copb1	C	T	7: 114,237,356	V384M	probably damaging	Het
Cyp2c50	T	A	19: 40,090,568	N118K	probably benign	Het
Cyp4a32	A	G	4: 115,602,302	I78V	probably benign	Het
Cyth4	A	G	15: 78,607,045	K108R	probably benign	Het
Dnah1	T	C	14: 31,264,939	H3632R	probably benign	Het
Dnah3	T	C	7: 119,943,633	I540V	probably benign	Het
Dock4	A	G	12: 40,794,860	Y1174C	probably damaging	Het
Drd5	A	G	5: 38,320,536	T291A	probably damaging	Het
Fam102a	A	G	2: 32,558,064	R62G	probably benign	Het
Fbn1	T	C	2: 125,306,495	N2611S	possibly damaging	Het
Fhod3	A	G	18: 25,060,352	E640G	probably damaging	Het
Flvcr2	T	A	12: 85,805,239	D522E	probably benign	Het
Fuk	A	G	8: 110,895,897	I133T	probably benign	Het
Ganc	T	A	2: 120,441,529	I556K	probably damaging	Het
Gjc2	T	A	11: 59,177,134	E174V	unknown	Het
Gm4869	A	G	5: 140,462,188	T137A	probably damaging	Het
Gzmd	G	A	14: 56,131,342	R32C	probably damaging	Het
Hltf	T	A	3: 20,065,392	H200Q	probably benign	Het
Hrasls5	A	G	19: 7,614,581	T121A	probably benign	Het
Ift88	A	G	14: 57,479,997	I559M	probably damaging	Het
Ighv1-62-1	C	A	12: 115,386,702	C115F	probably damaging	Het
Impdh2	A	G	9: 108,563,437	N279S	possibly damaging	Het
Itpr1	T	C	6: 108,517,620		probably null	Het
Kansl1l	T	C	1: 66,801,628	N171S	possibly damaging	Het
Kif14	T	A	1: 136,468,753	C266S	probably benign	Het
Lrriq1	A	C	10: 103,215,973	V306G	probably damaging	Het
Mast4	G	A	13: 103,334,000	R65W	possibly damaging	Het
Mex3d	T	C	10: 80,387,257	D55G		Het
Mrps27	A	T	13: 99,411,280	K233*	probably null	Het
Myo1f	A	G	17: 33,579,928	N189S	probably damaging	Het
Nbn	A	T	4: 15,991,190	K729N	probably benign	Het
Olfr1082	C	A	2: 86,594,154	V225F	possibly damaging	Het
Olfr395	T	C	11: 73,907,232	S87G	probably benign	Het
Park2	C	A	17: 11,854,861	N355K	possibly damaging	Het
Pgghg	T	C	7: 140,945,720	S479P		Het
Polr1e	A	C	4: 45,029,340	H315P	probably damaging	Het
Pou6f2	A	G	13: 18,125,289	V595A		Het
Prdm15	T	C	16: 97,795,741	D960G	possibly damaging	Het
Prkcz	A	T	4: 155,269,059	M460K	probably benign	Het
Prkd2	G	T	7: 16,857,805	R587L	probably benign	Het
Rabep1	C	A	11: 70,939,989	T829N	probably damaging	Het
Rptn	A	G	3: 93,395,954	E198G	probably benign	Het
Ryr2	A	T	13: 11,665,913	I3182N	possibly damaging	Het
Sectm1a	T	A	11: 121,069,882	I36F	possibly damaging	Het
Sez6l	T	C	5: 112,473,480	S243G	probably benign	Het
Taf2	T	A	15: 55,062,141	H235L	probably benign	Het
Tbc1d7	T	C	13: 43,153,017	Q161R	probably benign	Het
Tfcp2	T	C	15: 100,518,587	T271A	possibly damaging	Het
Thrsp	G	T	7: 97,417,088	T139K	probably damaging	Het
Timm10	T	A	2: 84,829,989	*91R	probably null	Het
Tlr11	T	A	14: 50,362,141	I528N	possibly damaging	Het
Tnnt2	T	A	1: 135,851,706	L278Q	probably damaging	Het
Toe1	A	T	4: 116,807,518	M1K	probably null	Het
Trpv5	G	A	6: 41,675,308	R148*	probably null	Het
Ttll13	A	C	7: 80,254,163	K280Q	probably damaging	Het
Ttn	A	G	2: 76,953,206	V860A	unknown	Het
Txnip	T	C	3: 96,559,675	Y222H	probably damaging	Het
Ubr4	G	A	4: 139,443,414	S1600N	probably damaging	Het
Uhrf1	T	C	17: 56,315,193	Y364H	probably damaging	Het
Unc5a	A	T	13: 54,991,020	T71S	probably damaging	Het
Vmn1r123	A	T	7: 21,162,612	Y143F	possibly damaging	Het
Vmn1r180	T	A	7: 23,952,466	I18N	probably damaging	Het
Washc2	A	G	6: 116,208,207	M1V	probably null	Het
Zfp174	C	A	16: 3,848,247	H125Q	probably benign	Het
Zfpl1	T	C	19: 6,081,913	H227R	possibly 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
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
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'- GGCTTCTTGACTCACAGCTG -3'
(R):5'- TTGCACAGTTGAGGTTCCCG -3'

Sequencing Primer
(F):5'- TCTTGACTCACAGCTGTAACC -3'
(R):5'- CACAGTTGAGGTTCCCGACTAATAG -3'

Posted On

2019-06-26