Incidental Mutation 'R1661:Appbp2'
ID 186766
Institutional Source Beutler Lab
Gene Symbol Appbp2
Ensembl Gene ENSMUSG00000018481
Gene Name amyloid beta precursor protein binding protein 2
Synonyms 1300003O07Rik, PAT1
MMRRC Submission 039697-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.743) question?
Stock # R1661 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 85082134-85125946 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to C at 85100936 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000018625 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018625] [ENSMUST00000018625]
AlphaFold Q9DAX9
Predicted Effect probably null
Transcript: ENSMUST00000018625
SMART Domains Protein: ENSMUSP00000018625
Gene: ENSMUSG00000018481

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 probably null
Transcript: ENSMUST00000018625
SMART Domains Protein: ENSMUSP00000018625
Gene: ENSMUSG00000018481

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.9%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 G A 17: 24,596,816 (GRCm39) G423E probably damaging Het
Acox3 A T 5: 35,760,371 (GRCm39) H429L probably damaging Het
Adamts9 G T 6: 92,857,604 (GRCm39) Q895K possibly damaging Het
Ajm1 T C 2: 25,469,167 (GRCm39) D248G possibly damaging Het
Amotl2 T A 9: 102,607,295 (GRCm39) I701N probably damaging Het
Angel2 T C 1: 190,669,664 (GRCm39) Y115H probably damaging Het
Arhgap33 A C 7: 30,231,748 (GRCm39) C113W probably damaging Het
Asprv1 A G 6: 86,605,718 (GRCm39) N188S probably damaging Het
Atp8a2 T C 14: 60,097,635 (GRCm39) I798V possibly damaging Het
Caml C A 13: 55,779,784 (GRCm39) L286I probably benign Het
Ccdc125 A G 13: 100,830,081 (GRCm39) I284V probably benign Het
Cep89 A G 7: 35,117,105 (GRCm39) T236A possibly damaging Het
Cfap61 T C 2: 145,877,239 (GRCm39) probably null Het
Cog2 T C 8: 125,269,629 (GRCm39) F390L probably benign Het
Creg2 C T 1: 39,662,372 (GRCm39) W253* probably null Het
Cttnbp2 A T 6: 18,434,982 (GRCm39) I292K probably benign Het
Ddb1 A T 19: 10,606,444 (GRCm39) Y1114F probably benign Het
Dnah6 T C 6: 73,101,761 (GRCm39) E1921G probably benign Het
Dync1h1 T C 12: 110,622,791 (GRCm39) F3494L probably damaging Het
F7 A G 8: 13,085,209 (GRCm39) I412V probably benign Het
Fam222b A G 11: 78,045,987 (GRCm39) Y388C probably damaging Het
Fam227a G A 15: 79,504,878 (GRCm39) probably null Het
Fbxo32 A C 15: 58,054,865 (GRCm39) V156G probably damaging Het
Fem1b C T 9: 62,704,556 (GRCm39) V235I probably damaging Het
Fnip2 A G 3: 79,422,456 (GRCm39) F108S probably benign Het
Fras1 A T 5: 96,746,768 (GRCm39) S613C probably damaging Het
Garin1a G C 6: 29,285,937 (GRCm39) R132P probably damaging Het
Gm7276 C A 18: 77,273,266 (GRCm39) probably benign Het
Gnb4 A C 3: 32,644,188 (GRCm39) L152* probably null Het
Hsd17b4 G A 18: 50,293,282 (GRCm39) E274K probably benign Het
Htr4 T C 18: 62,545,305 (GRCm39) I30T probably damaging Het
Ighmbp2 A G 19: 3,317,246 (GRCm39) L542P probably damaging Het
Ikzf2 T A 1: 69,577,973 (GRCm39) Y512F probably damaging Het
Itpr1 A G 6: 108,459,858 (GRCm39) N2051D probably benign Het
Kif1c C T 11: 70,619,223 (GRCm39) L953F probably damaging Het
Klhl22 C A 16: 17,594,352 (GRCm39) D160E probably benign Het
Kpna6 T A 4: 129,551,264 (GRCm39) R80S probably benign Het
Lclat1 A G 17: 73,494,999 (GRCm39) E142G probably damaging Het
Lrig3 T C 10: 125,833,570 (GRCm39) Y349H probably benign Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Map1b T A 13: 99,568,437 (GRCm39) N1428I unknown Het
Map3k19 T A 1: 127,745,393 (GRCm39) T1354S possibly damaging Het
Med13l T A 5: 118,887,813 (GRCm39) W1696R probably damaging Het
Megf8 A G 7: 25,063,272 (GRCm39) T2543A probably damaging Het
Mfn1 T G 3: 32,588,471 (GRCm39) V66G probably benign Het
Muc15 C T 2: 110,564,243 (GRCm39) Q260* probably null Het
Nfkb1 T C 3: 135,300,718 (GRCm39) H616R probably damaging Het
Nnmt A G 9: 48,516,174 (GRCm39) S29P probably benign Het
Nrde2 A T 12: 100,116,119 (GRCm39) S122T probably benign Het
Or10a2 T C 7: 106,673,481 (GRCm39) S149P probably damaging Het
Or4g16 T C 2: 111,137,116 (GRCm39) C189R probably damaging Het
Or7g33 C T 9: 19,448,624 (GRCm39) V201I probably benign Het
Pced1b A G 15: 97,282,594 (GRCm39) H211R probably benign Het
Pcsk5 A T 19: 17,424,938 (GRCm39) S1622T probably damaging Het
Pde10a A G 17: 9,117,702 (GRCm39) D26G probably damaging Het
Phf11a A T 14: 59,518,237 (GRCm39) L170H probably damaging Het
Ppil6 A G 10: 41,390,176 (GRCm39) D307G probably benign Het
Ppp6r2 A G 15: 89,137,254 (GRCm39) D6G possibly damaging Het
Psmd12 A T 11: 107,382,732 (GRCm39) K212N probably damaging Het
Rc3h1 T A 1: 160,786,993 (GRCm39) V796E probably benign Het
Rgl1 T C 1: 152,409,326 (GRCm39) Y503C probably damaging Het
Ryr1 A T 7: 28,801,163 (GRCm39) I860N probably damaging Het
Saal1 A T 7: 46,342,224 (GRCm39) N406K possibly damaging Het
Sh3pxd2a A T 19: 47,266,759 (GRCm39) Y277N probably damaging Het
Slitrk1 A T 14: 109,149,359 (GRCm39) Y451N probably damaging Het
Smad1 T C 8: 80,098,658 (GRCm39) E52G probably damaging Het
Smarcd1 A T 15: 99,605,519 (GRCm39) probably null Het
Smc3 A G 19: 53,613,496 (GRCm39) D403G probably benign Het
Srd5a2 A T 17: 74,328,476 (GRCm39) W201R probably damaging Het
Syt2 C A 1: 134,675,358 (GRCm39) A403D probably damaging Het
Tasor2 C T 13: 3,623,860 (GRCm39) S2030N possibly damaging Het
Tax1bp1 T A 6: 52,713,897 (GRCm39) S225R probably benign Het
Thap3 C T 4: 152,070,161 (GRCm39) V78M probably damaging Het
Thoc5 A G 11: 4,869,792 (GRCm39) K446R probably benign Het
Timmdc1 A C 16: 38,331,079 (GRCm39) probably null Het
Tmem126b G T 7: 90,125,179 (GRCm39) A2E probably damaging Het
Trim9 T A 12: 70,301,887 (GRCm39) R584W probably damaging Het
Vmn1r25 A T 6: 57,955,446 (GRCm39) I281N probably damaging Het
Wdr59 A G 8: 112,205,994 (GRCm39) F553S probably damaging Het
Wnt5a T C 14: 28,240,300 (GRCm39) M150T probably benign Het
Zfp53 A G 17: 21,729,766 (GRCm39) T600A probably 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
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
Predicted Primers PCR Primer
(F):5'- GCCAACTTACCTCATCATAGTGGCTTT -3'
(R):5'- TGGTTAGCACATGTTGGGTACACAAA -3'

Sequencing Primer
(F):5'- TGCAAACAGGAGTGCACA -3'
(R):5'- GCTTTCAGCACTATCAGTGC -3'
Posted On 2014-05-09