Mutagenetix > Incidental Mutation

Incidental Mutation 'R8341:Bace2'

644918

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R8341 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97356742-97442936 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 97356908 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 36 (A36V)

Ref Sequence

ENSEMBL: ENSMUSP00000043918 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047275
AA Change: A36V

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000043918
Gene: ENSMUSG00000040605
AA Change: A36V

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

Meta Mutation Damage Score

0.1926

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (57/58)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932429P05Rik	A	T	X: 89,754,716	K718M	probably damaging	Het
Abca8b	T	A	11: 109,955,050	I915F	probably damaging	Het
Adam11	C	A	11: 102,776,536	H641N	probably damaging	Het
Amfr	A	G	8: 93,999,178	S192P	probably damaging	Het
Ano9	T	A	7: 141,102,334	N676I	possibly damaging	Het
Arfgef1	C	T	1: 10,154,328	V1428I	probably benign	Het
B3gnt9	C	T	8: 105,253,865	R297H	probably benign	Het
C1s1	C	T	6: 124,531,156	A625T	probably damaging	Het
Camkmt	T	C	17: 85,439,580	L251P	probably damaging	Het
Ceacam15	C	A	7: 16,672,003	V208F	probably benign	Het
Clp1	T	C	2: 84,723,773	K351E	probably damaging	Het
Csmd3	T	C	15: 47,698,151	Y1343C		Het
Cubn	C	A	2: 13,428,724	G1125V	probably damaging	Het
Dpp4	C	T	2: 62,347,890	V633I	probably benign	Het
Eif2ak1	A	T	5: 143,884,937	D357V	probably benign	Het
Fez1	T	C	9: 36,876,309	M370T	possibly damaging	Het
Frk	G	A	10: 34,586,283	E257K	probably damaging	Het
Gm7579	T	A	7: 142,212,119	C87*	probably null	Het
Henmt1	T	C	3: 108,958,592	V211A	probably damaging	Het
Hspg2	C	G	4: 137,518,979	P1023A	possibly damaging	Het
Ints9	T	A	14: 65,036,414	V556E	probably benign	Het
Klhl41	T	C	2: 69,670,524	S110P	probably benign	Het
Klrk1	T	C	6: 129,622,700		probably benign	Het
Kmt2e	A	T	5: 23,499,453	S1215C	probably damaging	Het
Lyn	T	C	4: 3,743,304		probably null	Het
Map2k5	T	A	9: 63,339,098	N116Y	probably damaging	Het
Map3k13	G	T	16: 21,921,584	E554*	probably null	Het
Map6	A	G	7: 99,268,440	E140G	possibly damaging	Het
Mpv17	A	C	5: 31,154,103		probably null	Het
Myo1c	C	T	11: 75,671,427	P883S	probably benign	Het
Myo7b	T	C	18: 31,983,926	M914V	probably benign	Het
Olfm2	C	T	9: 20,672,622		probably null	Het
Olfr124	G	A	17: 37,805,652	C169Y	probably damaging	Het
Osbpl7	T	G	11: 97,060,163	L612R	probably damaging	Het
Polq	A	T	16: 37,071,771	M2012L	possibly damaging	Het
Ppp1r7	G	A	1: 93,346,278	D59N	probably benign	Het
Ptbp1	A	C	10: 79,863,211	E534D	probably benign	Het
Qser1	A	G	2: 104,789,475	Y241H	probably damaging	Het
Rbx1	T	C	15: 81,473,877	L88P	probably damaging	Het
Rft1	T	C	14: 30,689,881	L462P	probably damaging	Het
Serpinb9f	T	A	13: 33,327,307	L77*	probably null	Het
Shisa9	T	C	16: 11,997,151	M221T	possibly damaging	Het
Slc12a2	T	G	18: 57,879,209	F135V	possibly damaging	Het
Slc23a1	C	T	18: 35,622,535	G436E	probably damaging	Het
Slc44a2	T	C	9: 21,342,199	F88L	probably benign	Het
Snx21	A	G	2: 164,791,885	E197G	probably damaging	Het
Srarp	T	C	4: 141,433,396	D42G	possibly damaging	Het
Ssfa2	A	T	2: 79,657,718	K715I	probably damaging	Het
St6galnac1	T	A	11: 116,768,888	M200L	probably benign	Het
Stambpl1	A	T	19: 34,234,001	Q154L	probably benign	Het
Szt2	G	T	4: 118,392,836	R492S	possibly damaging	Het
Thbs3	G	A	3: 89,225,391	R880Q	probably benign	Het
Tnks	A	T	8: 34,873,045	L473H	probably damaging	Het
Ttc4	A	G	4: 106,665,696	S342P	probably benign	Het
Uckl1	T	A	2: 181,569,719	M463L	probably benign	Het
Unc80	T	C	1: 66,649,033	S2397P	possibly damaging	Het
Vmn2r73	T	A	7: 85,857,920	H728L	probably benign	Het
Vsig10l	T	C	7: 43,463,954	V110A	probably damaging	Het
Zgrf1	T	A	3: 127,560,915	L61*	probably null	Het
Zswim5	A	G	4: 116,986,792	Y1009C	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
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
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'- GCGACTGAGAACTTGTTCAACTC -3'
(R):5'- CAGCATCTCTAGGTAGTAGCCG -3'

Sequencing Primer
(F):5'- GAGAACTTGTTCAACTCTGCACCG -3'
(R):5'- TAGGTAGTAGCCGCGGCC -3'

Posted On

2020-09-02