Incidental Mutation 'IGL01736:Appbp2'
ID 105707
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Appbp2
Ensembl Gene ENSMUSG00000018481
Gene Name amyloid beta precursor protein binding protein 2
Synonyms 1300003O07Rik, PAT1
Accession Numbers
Essential gene? Possibly essential (E-score: 0.743) question?
Stock # IGL01736
Quality Score
Status
Chromosome 11
Chromosomal Location 85082134-85125946 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85105143 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 141 (K141R)
Ref Sequence ENSEMBL: ENSMUSP00000018625 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018625]
AlphaFold Q9DAX9
Predicted Effect possibly damaging
Transcript: ENSMUST00000018625
AA Change: K141R

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000018625
Gene: ENSMUSG00000018481
AA Change: K141R

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000119676
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A G 5: 114,326,503 (GRCm39) T290A possibly damaging Het
Apip G A 2: 102,917,486 (GRCm39) V62M probably damaging Het
Arhgef18 T A 8: 3,501,624 (GRCm39) probably benign Het
B3galt2 A G 1: 143,522,583 (GRCm39) T240A probably benign Het
Bivm A T 1: 44,180,973 (GRCm39) N385I probably damaging Het
Brd4 A T 17: 32,417,649 (GRCm39) probably benign Het
Cage1 T C 13: 38,206,789 (GRCm39) D352G possibly damaging Het
Ceacam10 A G 7: 24,480,535 (GRCm39) Y102C probably damaging Het
Diaph3 T C 14: 87,156,282 (GRCm39) D677G probably benign Het
Dis3l T C 9: 64,226,536 (GRCm39) probably null Het
Dnah6 C T 6: 73,165,360 (GRCm39) V582M probably benign Het
Fndc3b A G 3: 27,521,552 (GRCm39) L541P probably damaging Het
Folh1 T C 7: 86,391,444 (GRCm39) T384A possibly damaging Het
Gdpd3 T C 7: 126,365,695 (GRCm39) L18P probably damaging Het
Grxcr2 T A 18: 42,132,047 (GRCm39) K7N probably damaging Het
Gulo A G 14: 66,234,325 (GRCm39) F246L probably benign Het
Inpp4b A T 8: 82,723,968 (GRCm39) D500V probably benign Het
Ints4 C T 7: 97,175,849 (GRCm39) L647F probably benign Het
Kif17 T A 4: 138,013,876 (GRCm39) L264Q possibly damaging Het
Kif21a T C 15: 90,843,948 (GRCm39) N1104S possibly damaging Het
Ly6e T G 15: 74,830,546 (GRCm39) L132R probably benign Het
Mis18bp1 T A 12: 65,185,452 (GRCm39) H905L probably damaging Het
Nr2f2 A G 7: 70,004,446 (GRCm39) S269P probably damaging Het
Or2b2b C A 13: 21,858,787 (GRCm39) C109F probably benign Het
Or2o1 G A 11: 49,051,354 (GRCm39) C171Y probably damaging Het
Or5d46 T A 2: 88,170,771 (GRCm39) N287K probably damaging Het
Pde8b T C 13: 95,166,910 (GRCm39) I757V probably damaging Het
Psg23 A T 7: 18,346,122 (GRCm39) I191N possibly damaging Het
Slc12a4 A T 8: 106,672,475 (GRCm39) probably null Het
Snph A T 2: 151,436,093 (GRCm39) Y209* probably null Het
Tnfaip3 T C 10: 18,882,649 (GRCm39) H256R probably damaging Het
Tnip3 T A 6: 65,573,107 (GRCm39) probably benign Het
Ttc3 T A 16: 94,243,386 (GRCm39) F1130Y probably damaging Het
Twnk T G 19: 44,998,627 (GRCm39) V515G probably damaging Het
Usp24 T A 4: 106,280,658 (GRCm39) I2324K probably benign Het
Vwa7 T C 17: 35,238,827 (GRCm39) F305S probably damaging Het
Ythdc2 A T 18: 44,983,735 (GRCm39) Q567L probably damaging Het
Zbtb11 T A 16: 55,818,523 (GRCm39) I649K probably damaging Het
Zbtb49 T C 5: 38,358,204 (GRCm39) Y683C probably damaging Het
Zfhx4 A T 3: 5,309,152 (GRCm39) M793L possibly damaging Het
Zmym6 T G 4: 127,002,437 (GRCm39) I556R probably damaging Het
Zswim8 C T 14: 20,764,780 (GRCm39) P717S probably benign Het
Other mutations in Appbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02112:Appbp2 APN 11 85,092,446 (GRCm39) missense probably benign 0.04
IGL03051:Appbp2 APN 11 85,082,565 (GRCm39) missense possibly damaging 0.90
IGL03068:Appbp2 APN 11 85,092,246 (GRCm39) missense probably damaging 1.00
IGL03260:Appbp2 APN 11 85,107,283 (GRCm39) missense probably benign 0.00
IGL03358:Appbp2 APN 11 85,100,860 (GRCm39) missense probably benign 0.17
R0017:Appbp2 UTSW 11 85,105,129 (GRCm39) missense possibly damaging 0.46
R0267:Appbp2 UTSW 11 85,092,288 (GRCm39) missense probably damaging 1.00
R0504:Appbp2 UTSW 11 85,082,513 (GRCm39) missense probably benign 0.05
R1661:Appbp2 UTSW 11 85,100,936 (GRCm39) critical splice acceptor site probably null
R3438:Appbp2 UTSW 11 85,088,966 (GRCm39) missense probably damaging 1.00
R3817:Appbp2 UTSW 11 85,088,934 (GRCm39) missense probably damaging 1.00
R3950:Appbp2 UTSW 11 85,085,532 (GRCm39) missense probably damaging 1.00
R4273:Appbp2 UTSW 11 85,125,502 (GRCm39) missense probably damaging 1.00
R4574:Appbp2 UTSW 11 85,100,764 (GRCm39) critical splice donor site probably null
R4948:Appbp2 UTSW 11 85,085,409 (GRCm39) missense possibly damaging 0.87
R5322:Appbp2 UTSW 11 85,086,890 (GRCm39) critical splice donor site probably null
R5581:Appbp2 UTSW 11 85,100,921 (GRCm39) missense possibly damaging 0.92
R5593:Appbp2 UTSW 11 85,085,409 (GRCm39) missense possibly damaging 0.87
R5698:Appbp2 UTSW 11 85,100,925 (GRCm39) missense probably damaging 1.00
R7095:Appbp2 UTSW 11 85,125,553 (GRCm39) nonsense probably null
R7141:Appbp2 UTSW 11 85,082,577 (GRCm39) nonsense probably null
R9410:Appbp2 UTSW 11 85,106,067 (GRCm39) missense probably damaging 1.00
R9530:Appbp2 UTSW 11 85,107,306 (GRCm39) missense probably damaging 0.99
X0058:Appbp2 UTSW 11 85,092,456 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21