Mutagenetix > Incidental Mutation

Incidental Mutation 'R4112:Bace2'

314486

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

040989-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R4112 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97356742-97442936 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97436656 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 436 (T436A)

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: T436A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000043918
Gene: ENSMUSG00000040605
AA Change: T436A

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

silent
Transcript: ENSMUST00000231892

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.3%

Validation Efficiency

97% (56/58)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,794,154	C172*	probably null	Het
5830411N06Rik	G	T	7: 140,298,368	G1003*	probably null	Het
Aamp	A	G	1: 74,281,227		probably benign	Het
Abcb4	A	G	5: 8,936,783		probably null	Het
Adam6b	T	A	12: 113,489,636	F24L	possibly damaging	Het
Alms1	G	A	6: 85,620,888	V1368I	probably benign	Het
Angpt2	T	A	8: 18,699,123	Q326L	probably damaging	Het
Armc9	T	A	1: 86,188,939	I327N	possibly damaging	Het
Ccdc162	T	A	10: 41,656,328	E450V	possibly damaging	Het
Ccdc7b	G	T	8: 129,085,227		probably benign	Het
Cdh17	T	C	4: 11,814,628	S728P	probably damaging	Het
Chia1	T	C	3: 106,128,528	L168P	probably damaging	Het
Cnot1	A	C	8: 95,773,618	L111V	probably damaging	Het
Col14a1	A	T	15: 55,363,559	N235I	unknown	Het
Col2a1	A	C	15: 97,983,701	L787R	probably benign	Het
Cyp3a25	A	T	5: 146,003,031	D55E	probably benign	Het
Dennd6a	A	T	14: 26,628,518		probably benign	Het
Dnajc28	G	A	16: 91,616,867	T187M	probably damaging	Het
Etfbkmt	T	C	6: 149,144,591		probably benign	Het
Etfrf1	T	C	6: 145,215,372	Y23H	probably damaging	Het
Gemin4	T	A	11: 76,212,819	E372V	probably damaging	Het
Glyr1	T	C	16: 5,018,486	K500E	possibly damaging	Het
Gm10271	A	T	10: 116,968,038		probably benign	Het
Gm20775	A	T	Y: 10,641,878		noncoding transcript	Het
Gm5578	A	G	6: 112,606,505		noncoding transcript	Het
Gxylt2	A	G	6: 100,783,206	N234S	probably damaging	Het
Kcna6	G	C	6: 126,739,774	R51G	probably damaging	Het
Klf17	A	G	4: 117,760,701	V153A	possibly damaging	Het
L3mbtl2	T	C	15: 81,681,969	V331A	possibly damaging	Het
Med1	A	T	11: 98,180,087	V110E	probably damaging	Het
Nsmaf	A	C	4: 6,417,188	Y535*	probably null	Het
Pcdh10	G	A	3: 45,381,620	V790M	probably damaging	Het
Phlpp1	A	G	1: 106,364,338	T976A	probably damaging	Het
Prelid3a	T	C	18: 67,472,897	Y25H	probably damaging	Het
Ptprk	T	A	10: 28,475,288		probably null	Het
Rbm5	A	T	9: 107,765,597	D79E	probably damaging	Het
Rhox3f	G	T	X: 37,582,019	E140*	probably null	Het
Rnd3	T	A	2: 51,148,230	T78S	possibly damaging	Het
Sgca	T	C	11: 94,972,570	T27A	possibly damaging	Het
Slc10a2	C	T	8: 5,105,135	D17N	probably benign	Het
Snap23	C	T	2: 120,584,375		probably benign	Het
Sptb	T	A	12: 76,597,779	T2098S	probably damaging	Het
Src	T	A	2: 157,463,026	L165H	probably damaging	Het
Srr	G	T	11: 74,913,072	Q20K	probably benign	Het
Stt3b	A	T	9: 115,266,138	F275Y	probably damaging	Het
Sucnr1	C	G	3: 60,086,794	R248G	probably damaging	Het
Thsd7b	A	T	1: 130,116,619	D1112V	probably benign	Het
Tmem80	A	G	7: 141,333,779		probably benign	Het
Top2a	C	A	11: 99,022,960	K18N	probably damaging	Het
Ttc24	T	A	3: 88,074,639	D40V	probably damaging	Het
Vmn2r-ps159	G	T	4: 156,334,397		noncoding transcript	Het
Zfp3	T	A	11: 70,771,507	S97R	probably benign	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
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'- TCATCTTCACTCCTGAGGGC -3'
(R):5'- TCTGACTAGTGAGGACTCATCG -3'

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

Posted On

2015-05-14