Incidental Mutation 'R8222:Bace1'
ID 636769
Institutional Source Beutler Lab
Gene Symbol Bace1
Ensembl Gene ENSMUSG00000032086
Gene Name beta-site APP cleaving enzyme 1
Synonyms
MMRRC Submission 067640-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.380) question?
Stock # R8222 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 45749878-45775694 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45768491 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 262 (V262A)
Ref Sequence ENSEMBL: ENSMUSP00000034591 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034591] [ENSMUST00000078111]
AlphaFold P56818
Predicted Effect probably damaging
Transcript: ENSMUST00000034591
AA Change: V262A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000034591
Gene: ENSMUSG00000032086
AA Change: V262A

DomainStartEndE-ValueType
low complexity region 27 45 N/A INTRINSIC
Pfam:Asp 74 418 3.1e-46 PFAM
Pfam:TAXi_C 259 417 1.2e-13 PFAM
transmembrane domain 455 477 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000078111
AA Change: V262A

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000077249
Gene: ENSMUSG00000032086
AA Change: V262A

DomainStartEndE-ValueType
low complexity region 27 45 N/A INTRINSIC
Pfam:Asp 74 295 9.5e-34 PFAM
Pfam:TAXi_C 290 383 1.5e-8 PFAM
transmembrane domain 421 443 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159499
SMART Domains Protein: ENSMUSP00000124773
Gene: ENSMUSG00000032086

DomainStartEndE-ValueType
Pfam:Asp 4 61 4.5e-13 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000124960
Gene: ENSMUSG00000032086
AA Change: V120A

DomainStartEndE-ValueType
Pfam:Asp 1 75 3.6e-9 PFAM
Pfam:Asp 78 277 3.3e-22 PFAM
Pfam:TAXi_C 118 276 1.4e-15 PFAM
transmembrane domain 314 336 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
Validation Efficiency 100% (56/56)
MGI Phenotype FUNCTION: This gene encodes a member of the peptidase A1 family of aspartic proteases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature protease. This transmembrane protease catalyzes the first step in the formation of amyloid beta peptide from amyloid precursor protein. Amyloid beta peptides are the main constituent of amyloid beta plaques, which accumulate in the brains of human Alzheimer's disease patients. Homozygous knockout mice for this gene exhibit a wide range of nervous system defects, growth retardation, metabolic abnormalities, and increased neonatal lethality. [provided by RefSeq, Nov 2015]
PHENOTYPE: Some alleles with a targeted mutation exhibit small body size, postnatal lethality, hyperactivity, decreased anxiety, and abnormal APP processing by neurons, while others appear normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh18a1 C T 19: 40,562,296 (GRCm39) V243I probably benign Het
Ankrd11 A T 8: 123,622,347 (GRCm39) S481T probably damaging Het
Atg2b A G 12: 105,618,475 (GRCm39) I859T possibly damaging Het
B4galt3 G A 1: 171,100,253 (GRCm39) R141Q possibly damaging Het
BC106179 A T 16: 23,043,055 (GRCm39) I47N noncoding transcript Het
Brpf1 C T 6: 113,286,999 (GRCm39) P76S probably benign Het
Cdk1 A G 10: 69,176,426 (GRCm39) V227A probably benign Het
Ceacam20 T C 7: 19,705,618 (GRCm39) V203A probably benign Het
Cfap251 T A 5: 123,440,486 (GRCm39) Y1091N probably damaging Het
Cma2 T C 14: 56,210,727 (GRCm39) V194A probably benign Het
Cnnm4 A G 1: 36,545,617 (GRCm39) D749G probably benign Het
Cyp11b2 T C 15: 74,728,059 (GRCm39) T8A probably benign Het
Dlk2 A G 17: 46,613,384 (GRCm39) H170R probably benign Het
Esyt1 C T 10: 128,347,647 (GRCm39) R987Q possibly damaging Het
Ganc T C 2: 120,276,933 (GRCm39) I665T probably damaging Het
Gas6 T C 8: 13,520,276 (GRCm39) T471A probably benign Het
Grik2 A G 10: 49,449,744 (GRCm39) F153L probably benign Het
Heatr5b A G 17: 79,109,130 (GRCm39) V1043A possibly damaging Het
Ipo5 A G 14: 121,157,414 (GRCm39) D84G probably benign Het
Irak4 T A 15: 94,459,110 (GRCm39) probably null Het
Lrp4 T A 2: 91,305,086 (GRCm39) C238S probably damaging Het
Mau2 A T 8: 70,485,827 (GRCm39) probably null Het
Mdn1 T C 4: 32,707,477 (GRCm39) F1589L probably benign Het
Mlxip T G 5: 123,585,596 (GRCm39) S662A probably benign Het
Mn1 A T 5: 111,566,546 (GRCm39) N172I probably damaging Het
Mup2 A C 4: 60,138,454 (GRCm39) D79E probably benign Het
Nab2 C A 10: 127,498,645 (GRCm39) V475L probably benign Het
Nlrp3 A G 11: 59,439,614 (GRCm39) E397G probably damaging Het
Odf2l A G 3: 144,833,799 (GRCm39) E153G probably damaging Het
Or13p10 T C 4: 118,523,113 (GRCm39) L133P probably damaging Het
Or51f5 G T 7: 102,424,099 (GRCm39) D123Y probably damaging Het
Or5d36 T A 2: 87,901,381 (GRCm39) Y115F probably benign Het
Or5l13 T C 2: 87,779,788 (GRCm39) N263S probably benign Het
Pkdrej T A 15: 85,701,640 (GRCm39) H1432L probably benign Het
Plec C T 15: 76,063,374 (GRCm39) R2232H possibly damaging Het
Polk T C 13: 96,632,023 (GRCm39) M317V possibly damaging Het
Ppp4r3a A G 12: 101,008,164 (GRCm39) S758P probably benign Het
Pramel26 A T 4: 143,536,893 (GRCm39) D479E possibly damaging Het
Prdm9 A G 17: 15,765,035 (GRCm39) S582P possibly damaging Het
R3hcc1l T A 19: 42,564,616 (GRCm39) L643H probably damaging Het
Rassf8 G A 6: 145,765,783 (GRCm39) V38M unknown Het
Reln G A 5: 22,136,475 (GRCm39) Q2518* probably null Het
Sel1l3 A G 5: 53,345,296 (GRCm39) probably null Het
Serpina3m A T 12: 104,358,960 (GRCm39) D324V possibly damaging Het
Slc12a6 T A 2: 112,169,870 (GRCm39) probably null Het
Slc25a3 A G 10: 90,954,053 (GRCm39) W219R probably damaging Het
Sort1 T A 3: 108,241,951 (GRCm39) V299E probably benign Het
Stx6 A G 1: 155,073,889 (GRCm39) D233G possibly damaging Het
Tefm A G 11: 80,031,230 (GRCm39) V2A Het
Tfdp2 T C 9: 96,192,666 (GRCm39) S190P possibly damaging Het
Tmprss7 A T 16: 45,478,461 (GRCm39) I755N probably damaging Het
Trpm8 A G 1: 88,253,390 (GRCm39) probably null Het
Ube2q2l A G 6: 136,377,882 (GRCm39) I316T probably damaging Het
Ugt2a2 A G 5: 87,608,369 (GRCm39) L490P probably damaging Het
Utp20 A G 10: 88,614,234 (GRCm39) L1240P probably damaging Het
Vmn1r159 G T 7: 22,542,608 (GRCm39) Y141* probably null Het
Vmn2r56 T A 7: 12,444,960 (GRCm39) Y431F probably benign Het
Other mutations in Bace1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00335:Bace1 APN 9 45,750,588 (GRCm39) critical splice donor site probably null
IGL03378:Bace1 APN 9 45,770,199 (GRCm39) splice site probably null
R0071:Bace1 UTSW 9 45,765,997 (GRCm39) intron probably benign
R1561:Bace1 UTSW 9 45,750,492 (GRCm39) missense probably benign 0.08
R1819:Bace1 UTSW 9 45,768,460 (GRCm39) missense possibly damaging 0.48
R2097:Bace1 UTSW 9 45,771,520 (GRCm39) missense probably benign 0.00
R4067:Bace1 UTSW 9 45,765,962 (GRCm39) missense probably damaging 1.00
R4864:Bace1 UTSW 9 45,766,109 (GRCm39) missense probably damaging 1.00
R5814:Bace1 UTSW 9 45,771,562 (GRCm39) missense probably damaging 1.00
R5818:Bace1 UTSW 9 45,770,347 (GRCm39) missense possibly damaging 0.94
R6365:Bace1 UTSW 9 45,765,974 (GRCm39) nonsense probably null
R6968:Bace1 UTSW 9 45,766,263 (GRCm39) splice site probably null
R7188:Bace1 UTSW 9 45,767,393 (GRCm39) missense probably benign
R7517:Bace1 UTSW 9 45,771,559 (GRCm39) missense probably benign 0.32
R7560:Bace1 UTSW 9 45,767,437 (GRCm39) missense possibly damaging 0.50
R7729:Bace1 UTSW 9 45,769,743 (GRCm39) missense probably damaging 1.00
R9268:Bace1 UTSW 9 45,767,282 (GRCm39) intron probably benign
X0020:Bace1 UTSW 9 45,771,480 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- AGATTAGAGAGAATCTTGGCACC -3'
(R):5'- ACTTAAGTCATGTGGTCCAGG -3'

Sequencing Primer
(F):5'- TGTGCTAGGACATAGGTG -3'
(R):5'- AAGTCATGTGGTCCAGGCTCTG -3'
Posted On 2020-07-13