Mutagenetix > Incidental Mutation

Incidental Mutation 'R4563:Bace2'

343212

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

041788-MU

Accession Numbers

Essential gene?

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

Stock #

R4563 (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: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

100% (40/40)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011H14Rik	T	A	14: 49,234,498	M152L	probably benign	Het
Adam17	A	G	12: 21,332,088	C591R	probably damaging	Het
Calm5	C	A	13: 3,854,402	S32*	probably null	Het
Cln3	G	T	7: 126,572,558	S346R	probably damaging	Het
Dirc2	T	C	16: 35,697,942	Y467C	probably damaging	Het
G6pd2	G	A	5: 61,810,343	R487H	possibly damaging	Het
Glipr2	A	T	4: 43,977,600	N77Y	probably damaging	Het
Huwe1	A	T	X: 151,863,959	I682F	probably damaging	Het
Kbtbd2	A	G	6: 56,789,279	V37A	probably benign	Het
Kdm7a	C	T	6: 39,152,823	R473Q	probably damaging	Het
Lrrc71	T	A	3: 87,745,408		probably benign	Het
Mcm3	G	T	1: 20,809,645	R543S	probably benign	Het
Mgat4a	T	C	1: 37,466,579	D43G	probably damaging	Het
Mphosph8	T	C	14: 56,691,000	Y703H	probably benign	Het
Ncf2	T	C	1: 152,808,225		probably benign	Het
Nek6	T	G	2: 38,585,293	V282G	probably damaging	Het
Nhlrc1	T	C	13: 47,014,190	D197G	possibly damaging	Het
Nup93	G	T	8: 94,307,892	V612F	probably damaging	Het
Olfr1105	C	T	2: 87,033,684	C179Y	probably damaging	Het
Olfr1499	A	G	19: 13,815,282	F103L	probably benign	Het
Pafah1b2	T	C	9: 45,976,106	K36E	probably damaging	Het
Paqr9	A	G	9: 95,560,944	E329G	probably benign	Het
Pclo	A	G	5: 14,521,369	Q256R	probably damaging	Het
Pctp	A	T	11: 89,988,752	D94E	probably benign	Het
Pde8a	T	A	7: 81,308,820	Y315*	probably null	Het
Pex14	A	T	4: 149,041,768	V41D	probably damaging	Het
Ptgir	A	G	7: 16,906,869	M29V	possibly damaging	Het
Rasal2	T	C	1: 157,175,991	K366R	probably damaging	Het
Rprd1a	A	C	18: 24,507,103		probably null	Het
Senp8	A	C	9: 59,750,263	M1R	probably null	Het
Slco1b2	A	G	6: 141,671,167	T409A	probably benign	Het
Strc	T	C	2: 121,365,805	T1581A	probably benign	Het
Tmem117	T	C	15: 94,638,154	I23T	possibly damaging	Het
Ttc13	A	G	8: 124,675,277	L657P	probably damaging	Het
Ube4b	A	G	4: 149,359,165		probably benign	Het
Vmn1r125	A	G	7: 21,272,383	T69A	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
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'- AACGGAGAGCTGTTTCCTG -3'
(R):5'- GTGAGACCATAACATCCCAGGC -3'

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

Posted On

2015-09-24