Mutagenetix > Incidental Mutation

Incidental Mutation 'R2050:Bace2'

226367

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

040057-MU

Accession Numbers

Essential gene?

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

Stock #

R2050 (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 97412136 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 100 (C100S)

Ref Sequence

ENSEMBL: ENSMUSP00000156270 (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: C229S

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

SMART Domains

Protein: ENSMUSP00000043918
Gene: ENSMUSG00000040605
AA Change: C229S

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 damaging
Transcript: ENSMUST00000231664
AA Change: C100S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231783

Predicted Effect

probably benign
Transcript: ENSMUST00000231892

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548H24Rik	T	C	5: 31,486,058	I44T	possibly damaging	Het
Agap2	G	T	10: 127,080,261	E214*	probably null	Het
Angpt2	G	T	8: 18,705,657	P265T	probably benign	Het
Apc2	C	A	10: 80,307,609		probably null	Het
Arpc1b	C	T	5: 145,125,919	P250S	probably damaging	Het
Atxn10	T	G	15: 85,365,312	V115G	probably benign	Het
Bpifb9b	T	C	2: 154,309,604	S82P	possibly damaging	Het
Cacna1g	A	G	11: 94,409,474	S2157P	probably damaging	Het
Cacnb4	T	A	2: 52,469,586	I104L	probably damaging	Het
Cdh6	T	A	15: 13,057,501	M245L	probably benign	Het
Celsr1	A	C	15: 86,030,547	V1075G	probably benign	Het
Cfap61	T	C	2: 146,145,473	F1065L	probably benign	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Colgalt1	T	C	8: 71,617,686		probably null	Het
Ctnnal1	A	T	4: 56,835,350	V309D	probably benign	Het
D7Ertd443e	T	A	7: 134,266,798	E659D	probably damaging	Het
Dab2	T	C	15: 6,435,215	Y516H	possibly damaging	Het
Dnah14	T	C	1: 181,752,562	L3099P	probably damaging	Het
Frem3	A	G	8: 80,614,891	E1271G	probably damaging	Het
Gm14085	T	C	2: 122,522,868	S510P	probably benign	Het
Grap2	A	G	15: 80,646,243	H188R	probably benign	Het
Grin2c	T	C	11: 115,257,419	D344G	possibly damaging	Het
Hmcn2	T	C	2: 31,335,436	M119T	probably damaging	Het
Hsd11b2	A	G	8: 105,523,360	I368V	probably benign	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Ifit1bl2	T	A	19: 34,619,470	N249Y	possibly damaging	Het
Igsf8	T	A	1: 172,318,865	Y36N	probably damaging	Het
Lrp12	G	A	15: 39,872,589	S649L	probably damaging	Het
Map2	T	C	1: 66,414,314	S788P	probably damaging	Het
Mast4	T	C	13: 102,751,409	D1164G	probably damaging	Het
Mcm9	A	G	10: 53,612,825		probably null	Het
Myo5a	G	A	9: 75,146,874	E355K	probably benign	Het
Myo9b	T	A	8: 71,290,550	V85E	probably damaging	Het
Nbeal1	G	A	1: 60,292,964		probably null	Het
Nlrx1	A	T	9: 44,262,780	W375R	probably damaging	Het
Pik3c2a	A	G	7: 116,417,451		probably null	Het
Plch2	A	G	4: 155,000,818	M272T	probably benign	Het
Plk4	T	A	3: 40,810,380	M603K	probably benign	Het
Rfx7	T	A	9: 72,617,466	V646E	probably benign	Het
Slc9a1	A	G	4: 133,416,334	H377R	probably benign	Het
Snrnp70	A	C	7: 45,387,300	Y61*	probably null	Het
Spatc1l	T	C	10: 76,564,058	L138P	probably damaging	Het
Spink5	T	C	18: 44,007,758		probably null	Het
Sptan1	T	A	2: 30,002,238	S1055T	probably benign	Het
Tas2r104	T	A	6: 131,685,120	M209L	probably damaging	Het
Tdrd12	C	T	7: 35,529,247	V17I	probably damaging	Het
Tmem129	C	A	5: 33,657,782	A16S	probably benign	Het
Tmtc1	T	C	6: 148,262,883	E584G	probably damaging	Het
Trank1	C	A	9: 111,364,788	H627N	probably damaging	Het
Trio	T	C	15: 27,851,945	D820G	possibly damaging	Het
Trpt1	T	A	19: 6,998,084	N98K	probably damaging	Het
Ube4b	A	T	4: 149,344,612	F857I	probably damaging	Het
Vmn2r45	A	G	7: 8,472,022	V669A	probably damaging	Het
Vmn2r71	A	G	7: 85,624,473	I832V	probably damaging	Het
Zbtb20	T	A	16: 43,609,612		probably null	Het
Zfyve9	A	C	4: 108,718,603	M427R	probably benign	Het
Zfyve9	A	T	4: 108,719,303	F194I	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
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
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'- GATCATAGCTGTTTTCAAGCATGTG -3'
(R):5'- CCATGTGGGATCTAACAGGACC -3'

Sequencing Primer
(F):5'- CAAGCATGTGTGTTGATTAACCATG -3'
(R):5'- GTGGGATCTAACAGGACCTATATTAG -3'

Posted On

2014-09-17