Incidental Mutation 'IGL03051:Appbp2'
ID409059
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Appbp2
Ensembl Gene ENSMUSG00000018481
Gene Nameamyloid beta precursor protein (cytoplasmic tail) binding protein 2
SynonymsPAT1, 1300003O07Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.723) question?
Stock #IGL03051
Quality Score
Status
Chromosome11
Chromosomal Location85187262-85235130 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 85191739 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 555 (D555E)
Ref Sequence ENSEMBL: ENSMUSP00000018625 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018625]
Predicted Effect possibly damaging
Transcript: ENSMUST00000018625
AA Change: D555E

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000018625
Gene: ENSMUSG00000018481
AA Change: D555E

DomainStartEndE-ValueType
Pfam:TPR_12 395 461 6.5e-13 PFAM
Pfam:TPR_10 428 467 1.1e-9 PFAM
Pfam:TPR_7 432 466 1.2e-5 PFAM
Pfam:TPR_10 470 509 8.9e-7 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene interacts with microtubules and is functionally associated with beta-amyloid precursor protein transport and/or processing. The beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimer's disease. The encoded protein may be involved in regulating cell death. This gene has been found to be highly expressed in breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 G T 6: 86,987,301 probably benign Het
Abhd14a A T 9: 106,443,929 F76I possibly damaging Het
Acvr1b A G 15: 101,203,078 R374G probably damaging Het
Akap13 T A 7: 75,610,485 C149* probably null Het
Arhgap25 T C 6: 87,495,914 Q87R probably null Het
Baz1b T A 5: 135,217,225 N509K probably benign Het
Ces5a C A 8: 93,528,598 G156C probably damaging Het
Chtf18 G A 17: 25,720,964 R723W probably damaging Het
Clec4e A G 6: 123,289,733 S6P probably benign Het
Dennd4a A G 9: 64,862,414 I468V probably damaging Het
Epb41l4a A T 18: 33,874,772 Y233N probably damaging Het
Fam210b C T 2: 172,352,692 H155Y probably benign Het
Frmd4b A T 6: 97,295,982 C770* probably null Het
Gpa33 A G 1: 166,165,221 H301R probably benign Het
Gpr39 T A 1: 125,677,748 C138S probably damaging Het
Gtf2i T A 5: 134,242,914 K858* probably null Het
Ighv7-1 A T 12: 113,896,956 probably benign Het
Iglv1 T C 16: 19,085,223 T49A possibly damaging Het
Kif17 A C 4: 138,289,254 D416A probably damaging Het
Mib2 T C 4: 155,657,290 T431A probably damaging Het
Mpz G A 1: 171,158,811 R98H probably damaging Het
Naa16 T C 14: 79,369,082 E337G probably benign Het
Odam G A 5: 87,892,476 probably benign Het
Olfr397 T A 11: 73,965,034 L142H probably benign Het
Parp2 T C 14: 50,819,348 probably benign Het
Pcdh7 T G 5: 58,129,073 S1164A probably damaging Het
Pkp4 G T 2: 59,311,762 A470S probably benign Het
Plin4 A T 17: 56,105,417 M538K possibly damaging Het
Prex2 T C 1: 11,142,665 V624A probably damaging Het
Rps6ka5 A C 12: 100,615,991 probably null Het
Simc1 T C 13: 54,526,223 S795P probably benign Het
Slc35b4 A T 6: 34,160,471 probably null Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Syt14 T C 1: 192,933,220 N486S probably benign Het
Trim59 T C 3: 69,036,873 N378S probably benign Het
Wdr17 T A 8: 54,651,314 D908V probably damaging Het
Wdr74 A G 19: 8,739,511 probably benign Het
Wisp1 T A 15: 66,906,550 C73* probably null Het
Other mutations in Appbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01736:Appbp2 APN 11 85214317 missense possibly damaging 0.86
IGL02112:Appbp2 APN 11 85201620 missense probably benign 0.04
IGL03068:Appbp2 APN 11 85201420 missense probably damaging 1.00
IGL03260:Appbp2 APN 11 85216457 missense probably benign 0.00
IGL03358:Appbp2 APN 11 85210034 missense probably benign 0.17
R0017:Appbp2 UTSW 11 85214303 missense possibly damaging 0.46
R0267:Appbp2 UTSW 11 85201462 missense probably damaging 1.00
R0504:Appbp2 UTSW 11 85191687 missense probably benign 0.05
R1661:Appbp2 UTSW 11 85210110 critical splice acceptor site probably null
R3438:Appbp2 UTSW 11 85198140 missense probably damaging 1.00
R3817:Appbp2 UTSW 11 85198108 missense probably damaging 1.00
R3950:Appbp2 UTSW 11 85194706 missense probably damaging 1.00
R4273:Appbp2 UTSW 11 85234676 missense probably damaging 1.00
R4574:Appbp2 UTSW 11 85209938 critical splice donor site probably null
R4948:Appbp2 UTSW 11 85194583 missense possibly damaging 0.87
R5322:Appbp2 UTSW 11 85196064 critical splice donor site probably null
R5581:Appbp2 UTSW 11 85210095 missense possibly damaging 0.92
R5593:Appbp2 UTSW 11 85194583 missense possibly damaging 0.87
R5698:Appbp2 UTSW 11 85210099 missense probably damaging 1.00
R7095:Appbp2 UTSW 11 85234727 nonsense probably null
R7141:Appbp2 UTSW 11 85191751 nonsense probably null
X0058:Appbp2 UTSW 11 85201630 missense probably damaging 1.00
Posted On2016-08-02