Incidental Mutation 'R5581:Appbp2'
ID 438471
Institutional Source Beutler Lab
Gene Symbol Appbp2
Ensembl Gene ENSMUSG00000018481
Gene Name amyloid beta precursor protein binding protein 2
Synonyms 1300003O07Rik, PAT1
MMRRC Submission 043135-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.743) question?
Stock # R5581 (G1)
Quality Score 141
Status Not validated
Chromosome 11
Chromosomal Location 85082134-85125946 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 85100921 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 173 (R173G)
Ref Sequence ENSEMBL: ENSMUSP00000018625 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018625]
AlphaFold Q9DAX9
Predicted Effect possibly damaging
Transcript: ENSMUST00000018625
AA Change: R173G

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000018625
Gene: ENSMUSG00000018481
AA Change: R173G

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
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcl11a A G 11: 24,113,932 (GRCm39) K425R probably damaging Het
Casr A G 16: 36,315,106 (GRCm39) M911T probably benign Het
Cdon C T 9: 35,415,377 (GRCm39) A1205V probably benign Het
Chfr T C 5: 110,301,148 (GRCm39) probably null Het
Dixdc1 A G 9: 50,580,780 (GRCm39) L638P probably damaging Het
Filip1 C T 9: 79,727,042 (GRCm39) V526M possibly damaging Het
Fsip2 T A 2: 82,828,472 (GRCm39) D6756E possibly damaging Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Lvrn A G 18: 47,023,932 (GRCm39) T760A probably benign Het
Myh7 T A 14: 55,216,411 (GRCm39) M1256L probably benign Het
Ndufb11b T C 15: 81,865,037 (GRCm39) S93P probably damaging Het
Or8g17 T A 9: 38,929,998 (GRCm39) I280F probably damaging Het
Pdia5 T C 16: 35,269,812 (GRCm39) R166G probably benign Het
Plcz1 A G 6: 139,968,851 (GRCm39) Y196H probably damaging Het
Ptpn12 T A 5: 21,220,724 (GRCm39) E135D probably damaging Het
Rnh1 T C 7: 140,743,294 (GRCm39) D191G probably benign Het
Slit1 A G 19: 41,605,102 (GRCm39) probably null Het
Syne2 T G 12: 75,991,859 (GRCm39) D1941E probably benign Het
Thsd4 C A 9: 59,879,741 (GRCm39) A639S possibly damaging Het
Other mutations in Appbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01736:Appbp2 APN 11 85,105,143 (GRCm39) missense possibly damaging 0.86
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
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
Predicted Primers PCR Primer
(F):5'- CGTGTAAAAGAGGGACTTATTTCAC -3'
(R):5'- AGTGCCTCTCTAGAGAAAATGGTTC -3'

Sequencing Primer
(F):5'- CACATTTTCAAGGCCAGTGTG -3'
(R):5'- GGTTCTTTCAAATACAGAAACAGGGC -3'
Posted On 2016-10-26