Mutagenetix > Incidental Mutation

Incidental Mutation 'R3755:Bace2'

271415

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

040738-MU

Accession Numbers

Essential gene?

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

Stock #

R3755 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97356742-97442936 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 97436657 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Arginine at position 436 (T436R)

Ref Sequence

ENSEMBL: ENSMUSP00000043918 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000047275
AA Change: T436R

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000043918
Gene: ENSMUSG00000040605
AA Change: T436R

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

unknown
Transcript: ENSMUST00000231892
AA Change: Q40E

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

96% (50/52)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	C	A	10: 29,222,114	S169Y	probably damaging	Het
Abcb1a	G	A	5: 8,747,403	V1225M	possibly damaging	Het
Adamdec1	A	T	14: 68,577,138	I130N	probably damaging	Het
Atf7ip	T	A	6: 136,560,817	N357K	probably benign	Het
Capn13	G	A	17: 73,331,119	Q430*	probably null	Het
Ccdc30	A	T	4: 119,367,808		probably null	Het
Ces5a	T	C	8: 93,528,502	T184A	probably benign	Het
Cntnap5c	T	C	17: 58,104,599	C493R	possibly damaging	Het
Creb3l2	A	T	6: 37,364,026	I146N	possibly damaging	Het
Erich3	A	G	3: 154,764,321		probably benign	Het
Etl4	G	A	2: 20,743,537	V27I	probably benign	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fsip2	G	A	2: 82,978,217	D1627N	probably benign	Het
Gcdh	A	G	8: 84,893,480		probably benign	Het
Kcna7	T	C	7: 45,408,945	F219L	probably benign	Het
Kdm3b	T	C	18: 34,808,296	L280S	probably benign	Het
Knl1	T	A	2: 119,102,579	V2073D	probably damaging	Het
Kprp	A	G	3: 92,825,039	S235P	unknown	Het
Lpp	A	G	16: 24,845,161	H396R	probably benign	Het
Lrch4	T	A	5: 137,637,730	D348E	probably damaging	Het
Mcm9	T	C	10: 53,625,952	N179S	probably benign	Het
Mettl13	T	C	1: 162,544,220	E360G	probably damaging	Het
Nfib	A	T	4: 82,323,699	S418R	probably damaging	Het
Olfr283	A	C	15: 98,378,582	I176S	probably benign	Het
Olfr690	A	G	7: 105,330,151	F14L	probably damaging	Het
Pcdha8	G	A	18: 36,993,688	V408M	probably damaging	Het
Pcdhb3	T	C	18: 37,302,825	F615L	probably damaging	Het
Pkd1l3	C	T	8: 109,632,539	T844I	probably damaging	Het
Pkhd1l1	A	T	15: 44,589,406	E3909V	probably damaging	Het
Poldip3	A	G	15: 83,131,475		probably benign	Het
Ptpn1	T	C	2: 167,974,223	I219T	probably damaging	Het
Rad18	T	C	6: 112,693,471	N44S	probably damaging	Het
Reep5	T	C	18: 34,372,474	Y48C	probably damaging	Het
Rgl2	C	A	17: 33,932,597	A205D	probably benign	Het
Rundc3a	A	G	11: 102,399,259	I175V	possibly damaging	Het
Slamf1	C	T	1: 171,777,160	A166V	probably damaging	Het
Slc4a5	A	G	6: 83,288,303	D693G	probably benign	Het
Snap23	T	A	2: 120,586,245	C79S	probably damaging	Het
Spag6l	A	C	16: 16,763,020		probably null	Het
Trappc13	C	T	13: 104,168,560	D40N	probably benign	Het
Trav4-3	C	A	14: 53,599,139	S20R	probably benign	Het
Tssk2	G	A	16: 17,898,963	E77K	probably damaging	Het
Ubap2	A	G	4: 41,195,482	F1051S	probably damaging	Het
Ugt3a2	A	G	15: 9,367,412	T414A	probably benign	Het
Urod	C	T	4: 116,993,404	C66Y	probably damaging	Het
Vmn1r234	A	G	17: 21,229,009	K62E	probably damaging	Het
Wiz	A	G	17: 32,359,132	S460P	probably damaging	Het
Zbbx	C	T	3: 75,105,671	G151E	probably damaging	Het
Zbtb7a	C	T	10: 81,144,266	T98M	probably damaging	Het
Zfp524	C	A	7: 5,017,885	H137Q	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
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'- TCTTCACTCCTGAGGGCATG -3'
(R):5'- AGCGATGTCTGACTAGTGAGGAC -3'

Sequencing Primer
(F):5'- GGCATGCTGCTCCTGAG -3'
(R):5'- GGACTCATCGTTAACTACCTCAGGG -3'

Posted On

2015-03-18