Mutagenetix > Incidental Mutation

Incidental Mutation 'R8171:Bace2'

634159

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

Essential gene?

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

Stock #

R8171 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97356742-97442936 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 97424586 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 407 (V407L)

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: V407L

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000043918
Gene: ENSMUSG00000040605
AA Change: V407L

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: 99.4%
20x: 97.9%

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	G	T	14: 32,662,025	A661E	probably benign	Het
4932438A13Rik	T	C	3: 36,975,713	V2423A	probably benign	Het
4933425L06Rik	T	A	13: 105,109,783	V284E	probably benign	Het
Abhd14a	T	A	9: 106,440,761	T142S	probably benign	Het
Actn1	A	G	12: 80,196,393		probably null	Het
Adss	T	C	1: 177,796,351	N15S	probably benign	Het
Alpk2	A	G	18: 65,305,983	S780P	probably benign	Het
Asap1	G	T	15: 64,110,966	L830M	probably damaging	Het
Atic	T	C	1: 71,569,873	V319A	possibly damaging	Het
Atp8a2	A	T	14: 60,046,044	I87N	probably damaging	Het
Bmp3	A	T	5: 98,872,669	Y317F	probably damaging	Het
Ccdc159	A	G	9: 21,933,711	E291G	possibly damaging	Het
Cct8l1	T	A	5: 25,516,554	L89Q	probably damaging	Het
Cep83	T	A	10: 94,768,935	N503K	possibly damaging	Het
Ces4a	A	G	8: 105,147,207	Y436C	probably damaging	Het
Cftr	T	A	6: 18,258,288	D579E	probably damaging	Het
Chd9	T	A	8: 91,025,387	V1751D	possibly damaging	Het
Clasp2	A	T	9: 113,903,906	T937S	possibly damaging	Het
Clock	T	A	5: 76,266,414	D17V	possibly damaging	Het
Cpm	T	C	10: 117,683,315	L376P	probably damaging	Het
Crocc2	T	C	1: 93,189,001		probably null	Het
Csnk1g2	A	G	10: 80,639,802	D401G	probably damaging	Het
Cyb5r4	C	T	9: 87,042,810	L206F	possibly damaging	Het
Cyp1a1	T	A	9: 57,700,196	W36R	probably benign	Het
Cyp3a59	A	T	5: 146,085,774	H30L	probably damaging	Het
Dab2	G	A	15: 6,423,926	V182I	probably benign	Het
Dnah1	G	T	14: 31,297,110	F1342L	probably damaging	Het
Draxin	A	T	4: 148,115,666	L109Q	possibly damaging	Het
Elfn1	G	A	5: 139,971,357	V39M	probably damaging	Het
Erlin1	A	G	19: 44,069,329	I19T	probably benign	Het
F830016B08Rik	T	A	18: 60,300,078	S78T	possibly damaging	Het
Fer1l4	A	G	2: 156,048,231	V258A	probably benign	Het
Fgb	T	C	3: 83,042,515	D445G	probably damaging	Het
Fgd6	T	C	10: 94,074,332		probably null	Het
Frem3	T	A	8: 80,615,240	D1387E	probably damaging	Het
Gdf3	T	C	6: 122,609,903	T22A	probably benign	Het
Glcci1	C	T	6: 8,593,167	A511V	probably benign	Het
Gldc	A	T	19: 30,133,761	N538K	probably benign	Het
Glipr1l1	C	T	10: 112,078,384	P217S	probably benign	Het
Gm15800	A	G	5: 121,318,756	E728G	possibly damaging	Het
Gm35339	C	A	15: 76,363,619	F1614L		Het
Gpr161	A	G	1: 165,306,436	N89S	probably damaging	Het
Gypa	T	A	8: 80,509,463	S166T	probably benign	Het
Hcar1	A	G	5: 123,879,089	S180P	probably damaging	Het
Hcn1	T	C	13: 117,602,734	S11P	unknown	Het
Itih1	A	T	14: 30,937,090	M323K	possibly damaging	Het
Ivl	A	G	3: 92,571,778	S327P	probably damaging	Het
Kcnt2	T	A	1: 140,509,465	N545K	probably benign	Het
Kdm4b	A	T	17: 56,389,534	R417W	probably damaging	Het
Kif13a	T	C	13: 46,778,968	E1083G	probably damaging	Het
Klhl40	A	T	9: 121,778,557	H261L	probably benign	Het
Kpnb1	A	G	11: 97,175,747		probably null	Het
Lamc3	C	A	2: 31,914,971	T621N	probably benign	Het
Lingo3	T	C	10: 80,834,761	H445R	probably benign	Het
Ly75	G	A	2: 60,314,228	T1297I	possibly damaging	Het
Lypd6	C	T	2: 50,190,747	T149M	possibly damaging	Het
Mcrs1	A	T	15: 99,248,732	D139E	probably damaging	Het
Muc5b	G	A	7: 141,861,000	S2561N	unknown	Het
Mybpc1	C	T	10: 88,523,003	G1095R	probably damaging	Het
Myh1	A	G	11: 67,202,572	Y163C	probably damaging	Het
Notch4	T	A	17: 34,582,509	C1110*	probably null	Het
Olfr1257	A	G	2: 89,881,065	I80V	probably benign	Het
Olfr527	A	T	7: 140,336,230	I123F	probably damaging	Het
Olfr705	C	T	7: 106,714,618	S21N	probably benign	Het
Olfr705	T	A	7: 106,714,619	S21C		Het
Pcsk1	T	A	13: 75,090,091	C10*	probably null	Het
Pdlim5	A	T	3: 142,312,187	S107T	probably benign	Het
Plac8l1	T	A	18: 42,180,380	D99V	probably damaging	Het
Plin2	A	T	4: 86,657,112	V400E	probably damaging	Het
Plxna1	G	A	6: 89,357,120	P176S	probably benign	Het
Pnn	A	G	12: 59,070,437	K238R	probably damaging	Het
Pou5f1	A	G	17: 35,510,036	E231G	probably benign	Het
Ppara	A	T	15: 85,797,876	M258L	probably benign	Het
Prune2	G	A	19: 17,120,518	D1129N	probably damaging	Het
Rai14	G	A	15: 10,633,163	T47M	probably damaging	Het
Rdh5	T	C	10: 128,918,100	I117V	probably benign	Het
Rpain	G	A	11: 70,973,898	C137Y	probably damaging	Het
Scn3a	A	G	2: 65,530,810	V126A	possibly damaging	Het
Senp7	G	T	16: 56,111,726	L129F	probably damaging	Het
Setd1a	A	G	7: 127,791,227	D1025G	unknown	Het
Sirt4	A	T	5: 115,483,023	V30E	probably damaging	Het
Slit1	C	A	19: 41,727,073	R113L	probably damaging	Het
Stxbp5l	G	A	16: 37,208,054	T549I	noncoding transcript	Het
Sytl2	A	G	7: 90,409,470	M926V	probably damaging	Het
Tgfbr2	C	T	9: 116,130,006	W113*	probably null	Het
Tmem86a	A	G	7: 47,053,764	Y213C	probably damaging	Het
Tpo	T	A	12: 30,104,046	Y220F	probably damaging	Het
Ttc6	C	A	12: 57,673,310	A889E	probably damaging	Het
Tyw1	A	G	5: 130,300,014	D547G	probably benign	Het
Ubtfl1	A	G	9: 18,409,227	K17R	probably benign	Het
Usp46	T	A	5: 74,002,693	I331F	probably benign	Het
Vmn2r111	T	C	17: 22,573,092	H61R	probably benign	Het
Vwa9	A	T	9: 64,973,250	H213L	possibly damaging	Het
Wdr75	T	A	1: 45,822,546	N715K	probably benign	Het
Zfp772	A	T	7: 7,204,097	C198*	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
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
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'- TGGGACCTCCAGTTTTATGC -3'
(R):5'- GCCATTTCAGCGGTTATTGTTC -3'

Sequencing Primer
(F):5'- GGGACCTCCAGTTTTATGCTCTTG -3'
(R):5'- TGCCAAAGGGTTCAATAGTACC -3'

Posted On

2020-07-13