Incidental Mutation 'IGL01129:Bace2'
ID 52957
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bace2
Ensembl Gene ENSMUSG00000040605
Gene Name beta-site APP-cleaving enzyme 2
Synonyms ARP1, 1110059C24Rik, BAE2, ALP56, ASP21, CDA13, CEAP1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # IGL01129
Quality Score
Chromosome 16
Chromosomal Location 97157942-97244136 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 97209630 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 181 (N181K)
Ref Sequence ENSEMBL: ENSMUSP00000043918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047275] [ENSMUST00000231664]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000047275
AA Change: N181K

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000043918
Gene: ENSMUSG00000040605
AA Change: N181K

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 possibly damaging
Transcript: ENSMUST00000231664
AA Change: N52K

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231783
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232315
Coding Region Coverage
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933436I01Rik A T X: 66,964,210 (GRCm39) F216L possibly damaging Het
Cc2d1a G T 8: 84,870,033 (GRCm39) H161N probably benign Het
Ckap2 C T 8: 22,659,774 (GRCm39) G569D probably damaging Het
Col11a1 T C 3: 113,979,522 (GRCm39) probably benign Het
Col1a2 G A 6: 4,535,846 (GRCm39) D939N unknown Het
Creb3l2 A T 6: 37,330,569 (GRCm39) probably benign Het
Cuedc1 T A 11: 88,074,080 (GRCm39) S205T possibly damaging Het
Cux1 G A 5: 136,333,572 (GRCm39) probably benign Het
Cyp3a59 A G 5: 146,035,089 (GRCm39) M256V probably benign Het
Gzf1 C A 2: 148,532,916 (GRCm39) P690Q probably damaging Het
Lrch3 T A 16: 32,815,335 (GRCm39) D575E probably benign Het
Lypd3 A G 7: 24,340,018 (GRCm39) M362V probably benign Het
Mppe1 C A 18: 67,370,515 (GRCm39) G61* probably null Het
Nr2c2 T A 6: 92,135,397 (GRCm39) D328E probably benign Het
Or6b9 T C 7: 106,555,634 (GRCm39) N170D probably damaging Het
Pfn4 T A 12: 4,825,505 (GRCm39) V114E probably damaging Het
Rab14 T C 2: 35,073,398 (GRCm39) probably benign Het
Slc30a9 G T 5: 67,499,486 (GRCm39) G315C probably damaging Het
Spag16 A T 1: 69,935,681 (GRCm39) S303C probably benign Het
Spata16 C T 3: 26,967,333 (GRCm39) probably benign Het
Srcap T C 7: 127,120,823 (GRCm39) V161A probably damaging Het
Srd5a3 A G 5: 76,297,593 (GRCm39) probably benign Het
Vmn1r18 A T 6: 57,367,482 (GRCm39) F24Y probably benign Het
Vmn1r78 A T 7: 11,887,165 (GRCm39) T259S probably benign Het
Zc3h13 G A 14: 75,573,439 (GRCm39) D1527N probably damaging Het
Other mutations in Bace2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02660:Bace2 APN 16 97,216,340 (GRCm39) missense probably damaging 1.00
IGL02669:Bace2 APN 16 97,238,093 (GRCm39) makesense probably null
R0244:Bace2 UTSW 16 97,237,973 (GRCm39) splice site probably null
R0674:Bace2 UTSW 16 97,237,949 (GRCm39) missense possibly damaging 0.93
R0906:Bace2 UTSW 16 97,158,141 (GRCm39) missense possibly damaging 0.67
R1078:Bace2 UTSW 16 97,158,060 (GRCm39) missense unknown
R1670:Bace2 UTSW 16 97,213,335 (GRCm39) missense probably damaging 0.96
R1997:Bace2 UTSW 16 97,216,289 (GRCm39) missense possibly damaging 0.93
R2050:Bace2 UTSW 16 97,213,336 (GRCm39) missense probably damaging 1.00
R2937:Bace2 UTSW 16 97,213,388 (GRCm39) critical splice donor site probably null
R2938:Bace2 UTSW 16 97,213,388 (GRCm39) critical splice donor site probably null
R3103:Bace2 UTSW 16 97,223,201 (GRCm39) critical splice donor site probably null
R3755:Bace2 UTSW 16 97,237,857 (GRCm39) missense probably benign 0.34
R4110:Bace2 UTSW 16 97,237,856 (GRCm39) missense probably benign
R4112:Bace2 UTSW 16 97,237,856 (GRCm39) missense probably benign
R4113:Bace2 UTSW 16 97,237,856 (GRCm39) missense probably benign
R4560:Bace2 UTSW 16 97,223,180 (GRCm39) missense probably damaging 1.00
R4562:Bace2 UTSW 16 97,223,180 (GRCm39) missense probably damaging 1.00
R4563:Bace2 UTSW 16 97,223,180 (GRCm39) missense probably damaging 1.00
R4717:Bace2 UTSW 16 97,238,073 (GRCm39) missense probably damaging 1.00
R5535:Bace2 UTSW 16 97,214,625 (GRCm39) missense probably damaging 1.00
R6282:Bace2 UTSW 16 97,216,297 (GRCm39) missense probably damaging 1.00
R6364:Bace2 UTSW 16 97,214,633 (GRCm39) missense probably benign 0.05
R7045:Bace2 UTSW 16 97,200,865 (GRCm39) missense probably damaging 1.00
R7241:Bace2 UTSW 16 97,237,998 (GRCm39) missense possibly damaging 0.92
R7546:Bace2 UTSW 16 97,200,882 (GRCm39) missense probably benign 0.01
R7653:Bace2 UTSW 16 97,237,852 (GRCm39) missense
R8026:Bace2 UTSW 16 97,238,052 (GRCm39) missense probably benign 0.26
R8171:Bace2 UTSW 16 97,225,786 (GRCm39) missense possibly damaging 0.86
R8324:Bace2 UTSW 16 97,158,108 (GRCm39) missense possibly damaging 0.51
R8341:Bace2 UTSW 16 97,158,108 (GRCm39) missense possibly damaging 0.51
R8480:Bace2 UTSW 16 97,214,670 (GRCm39) missense probably damaging 1.00
R9205:Bace2 UTSW 16 97,158,059 (GRCm39) missense unknown
R9221:Bace2 UTSW 16 97,209,692 (GRCm39) missense probably benign 0.01
X0024:Bace2 UTSW 16 97,214,598 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-21