Mutagenetix > Incidental Mutation

Incidental Mutation 'R7045:Bace2'

547278

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

Accession Numbers

Essential gene?

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

Stock #

R7045 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97356742-97442936 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97399665 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 111 (N111S)

Ref Sequence

ENSEMBL: ENSMUSP00000043918 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000047275
AA Change: N111S

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

SMART Domains

Protein: ENSMUSP00000043918
Gene: ENSMUSG00000040605
AA Change: N111S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt1	A	T	12: 112,662,301	Y18*	probably null	Het
Ank2	C	A	3: 127,012,744	A583S	probably damaging	Het
Atp8b4	T	C	2: 126,372,195	N706S	probably benign	Het
Cnp	A	T	11: 100,580,358	R275S	probably benign	Het
Cs	T	A	10: 128,352,717	M104K	probably benign	Het
Ctcfl	G	A	2: 173,112,374	T310I	probably damaging	Het
Cyp2d40	T	C	15: 82,761,562	I81V	probably benign	Het
Ddx19a	A	G	8: 110,993,074	V30A	probably benign	Het
Disp1	C	A	1: 183,087,466	R1130L	probably damaging	Het
Dock6	G	A	9: 21,821,811	A1062V	probably damaging	Het
Dpysl2	T	C	14: 66,829,946	D172G	probably benign	Het
Eml2	A	G	7: 19,201,579	D638G	probably damaging	Het
Epb41l4b	C	A	4: 57,103,522	A105S	possibly damaging	Het
Fam198a	T	C	9: 121,965,641	L287P	probably damaging	Het
Fat4	A	G	3: 38,888,601	I548V	probably benign	Het
Gabrb2	G	A	11: 42,593,931	A272T	probably damaging	Het
Hcn1	C	T	13: 117,975,462	P654L	unknown	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,266,278		probably benign	Het
Hk1	C	A	10: 62,286,570	G477C	probably damaging	Het
Hspa5	C	T	2: 34,773,192	P127L	probably damaging	Het
Kiss1r	A	G	10: 79,919,425		probably null	Het
L3mbtl4	G	T	17: 68,461,566	R223L	probably benign	Het
Loxl4	G	T	19: 42,606,635	N200K	probably damaging	Het
Lrba	T	C	3: 86,285,091	V104A	probably benign	Het
Lyst	T	A	13: 13,634,900	V385D	probably benign	Het
Lyst	T	A	13: 13,637,708	C902S	probably damaging	Het
Mrpl28	T	C	17: 26,126,287	F227S	probably benign	Het
Mtmr3	A	T	11: 4,498,896	V289E	possibly damaging	Het
Ndst3	A	G	3: 123,672,083	V80A	probably damaging	Het
Nid2	C	T	14: 19,779,681	A680V	possibly damaging	Het
Nudcd1	T	C	15: 44,405,830	N145D	probably benign	Het
Nup210	A	T	6: 91,054,451	I812N	probably damaging	Het
Olfr1008	A	G	2: 85,689,911	S161G	possibly damaging	Het
Olfr130	C	T	17: 38,067,971	H267Y	probably benign	Het
Olfr1390	A	T	11: 49,340,930	T133S	probably damaging	Het
Olfr1468-ps1	C	A	19: 13,374,972	N3K	probably damaging	Het
Olfr251	T	A	9: 38,378,433	M184K	probably damaging	Het
Olfr319	A	T	11: 58,701,669		probably benign	Het
Olfr503	A	G	7: 108,545,245	K238R	probably damaging	Het
Pcdhb6	A	C	18: 37,336,276	Q750P	possibly damaging	Het
Plppr4	T	C	3: 117,360,034	Y72C	probably damaging	Het
Rasgrf2	G	T	13: 92,022,592		probably benign	Het
Sbk2	A	G	7: 4,958,906	I127T	probably damaging	Het
Smchd1	A	C	17: 71,415,044	S817A	probably benign	Het
Speer4b	A	T	5: 27,500,125	N83K	probably damaging	Het
Strc	A	T	2: 121,370,726	L1296Q	probably damaging	Het
Svs1	T	C	6: 48,988,612	V518A	possibly damaging	Het
Thap11	C	A	8: 105,855,583	R75S	possibly damaging	Het
Unc13a	A	C	8: 71,658,763	L268R	possibly damaging	Het
Zfp39	A	T	11: 58,890,443	C498S	unknown	Het
Zfp507	T	C	7: 35,795,553	T22A	possibly damaging	Het
Zfp85	T	C	13: 67,749,593	Y120C	probably benign	Het
Zfp882	G	A	8: 71,913,249		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
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
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'- CCACTTGTTTCTTGCAGCAG -3'
(R):5'- TGCACACATTGAATACAGTTCC -3'

Sequencing Primer
(F):5'- AGCATCTTCCAGGGCTGTG -3'
(R):5'- GTTCCTGAGAAATGAGACAGATGGTC -3'

Posted On

2019-05-13