Incidental Mutation 'R0730:App'
ID 67513
Institutional Source Beutler Lab
Gene Symbol App
Ensembl Gene ENSMUSG00000022892
Gene Name amyloid beta precursor protein
Synonyms E030013M08Rik, Adap, betaAPP, Abeta, appican, protease nexin II, Cvap
MMRRC Submission 038911-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.557) question?
Stock # R0730 (G1)
Quality Score 206
Status Validated
Chromosome 16
Chromosomal Location 84751236-84972187 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84876840 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 184 (F184L)
Ref Sequence ENSEMBL: ENSMUSP00000153907 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005406] [ENSMUST00000226232] [ENSMUST00000226801] [ENSMUST00000227021] [ENSMUST00000227723] [ENSMUST00000227737]
AlphaFold P12023
Predicted Effect unknown
Transcript: ENSMUST00000005406
AA Change: F184L
SMART Domains Protein: ENSMUSP00000005406
Gene: ENSMUSG00000022892
AA Change: F184L

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
A4_EXTRA 24 188 5.33e-129 SMART
low complexity region 190 208 N/A INTRINSIC
Pfam:APP_E2 291 473 2.5e-77 PFAM
Pfam:Beta-APP 600 638 3.4e-28 PFAM
Pfam:APP_amyloid 641 691 8.6e-28 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000226232
AA Change: F184L
Predicted Effect unknown
Transcript: ENSMUST00000226801
AA Change: F184L
Predicted Effect probably damaging
Transcript: ENSMUST00000227021
AA Change: F184L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect unknown
Transcript: ENSMUST00000227723
AA Change: F184L
Predicted Effect unknown
Transcript: ENSMUST00000227737
AA Change: F184L
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227990
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227918
Meta Mutation Damage Score 0.7866 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.8%
  • 20x: 96.1%
Validation Efficiency 99% (99/100)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cell surface receptor and transmembrane precursor protein that is cleaved by secretases to form a number of peptides. Some of these peptides are secreted and can bind to the acetyltransferase complex APBB1/TIP60 to promote transcriptional activation, while others form the protein basis of the amyloid plaques found in the brains of patients with Alzheimer disease. In addition, two of the peptides are antimicrobial peptides, having been shown to have bacteriocidal and antifungal activities. Mutations in this gene have been implicated in autosomal dominant Alzheimer disease and cerebroarterial amyloidosis (cerebral amyloid angiopathy). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Aug 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene exhibit reduced body weight, brain weight, size of forebrain commissures, locomotor activity, forelimb grip strength, and spatial learning scores. Many mice also exhibit agenesis of the corpus callosum, and extensive reactive gliosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam9 A T 8: 25,486,774 (GRCm39) I168N probably benign Het
Adamts20 G A 15: 94,245,571 (GRCm39) A577V probably benign Het
Agtr1a A T 13: 30,565,279 (GRCm39) S115C probably damaging Het
Ankrd11 T C 8: 123,618,692 (GRCm39) Y1720C probably damaging Het
Ano6 A T 15: 95,818,252 (GRCm39) T353S probably damaging Het
Arhgef38 T A 3: 132,843,232 (GRCm39) Y446F probably benign Het
Aspg T A 12: 112,078,693 (GRCm39) Y57* probably null Het
Atp1a4 G A 1: 172,067,774 (GRCm39) probably benign Het
Bdp1 G A 13: 100,195,459 (GRCm39) probably benign Het
Bicd2 T A 13: 49,531,717 (GRCm39) S246T possibly damaging Het
Brd10 T A 19: 29,695,381 (GRCm39) I1438F probably benign Het
Bsn T A 9: 107,984,011 (GRCm39) M3348L unknown Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Cacna2d3 T C 14: 28,704,322 (GRCm39) I820V probably benign Het
Cdc40 A G 10: 40,720,952 (GRCm39) probably benign Het
Cdh23 T C 10: 60,159,493 (GRCm39) E2094G probably damaging Het
Celsr2 T A 3: 108,305,922 (GRCm39) N2061Y probably damaging Het
Cfap206 G A 4: 34,711,391 (GRCm39) A502V probably benign Het
Cfap54 T C 10: 92,870,599 (GRCm39) T29A probably benign Het
Cfap57 T C 4: 118,470,117 (GRCm39) probably null Het
Chd5 A G 4: 152,432,441 (GRCm39) E43G possibly damaging Het
Clk1 G A 1: 58,453,558 (GRCm39) H343Y probably benign Het
Cntn4 A C 6: 106,527,447 (GRCm39) K443T probably damaging Het
Csn2 G A 5: 87,842,811 (GRCm39) A72V possibly damaging Het
Ctdp1 T A 18: 80,493,457 (GRCm39) H346L probably benign Het
Ctif A T 18: 75,698,083 (GRCm39) N192K probably damaging Het
Ddr2 G A 1: 169,823,135 (GRCm39) A383V probably benign Het
Derl3 C T 10: 75,731,076 (GRCm39) probably benign Het
Dgkh T C 14: 78,821,919 (GRCm39) I865V probably damaging Het
Dip2b C T 15: 100,069,532 (GRCm39) A619V probably damaging Het
Elapor1 T A 3: 108,376,851 (GRCm39) H509L probably benign Het
Eml1 A G 12: 108,496,585 (GRCm39) T614A possibly damaging Het
Eogt G C 6: 97,092,970 (GRCm39) Y402* probably null Het
Erbb4 A G 1: 68,298,449 (GRCm39) V647A probably damaging Het
Esm1 G T 13: 113,350,036 (GRCm39) probably null Het
Fbxo31 A G 8: 122,282,103 (GRCm39) probably benign Het
Fbxw5 T A 2: 25,394,630 (GRCm39) D201E possibly damaging Het
Fgfr1 G A 8: 26,045,760 (GRCm39) D123N probably benign Het
G530012D18Rik A C 1: 85,504,757 (GRCm39) probably benign Het
Gnat1 G A 9: 107,556,662 (GRCm39) T29I probably damaging Het
Gtf2ird2 A T 5: 134,221,597 (GRCm39) R67* probably null Het
Il22b A T 10: 118,130,142 (GRCm39) D87E probably benign Het
Kcnq3 T C 15: 65,867,457 (GRCm39) T729A probably benign Het
Klrc2 A T 6: 129,635,659 (GRCm39) S156R probably damaging Het
Krt76 A T 15: 101,795,784 (GRCm39) L462Q probably damaging Het
Lama3 C A 18: 12,589,907 (GRCm39) probably benign Het
Lin28a A T 4: 133,735,319 (GRCm39) S56T probably damaging Het
Macf1 A G 4: 123,276,323 (GRCm39) probably benign Het
Macrod2 C T 2: 142,059,594 (GRCm39) probably benign Het
Mansc1 C T 6: 134,594,424 (GRCm39) probably benign Het
Map1b G T 13: 99,566,274 (GRCm39) S2149* probably null Het
Mgst1 A T 6: 138,124,667 (GRCm39) T34S probably benign Het
Mlf2 C T 6: 124,911,354 (GRCm39) T123M probably damaging Het
Mospd2 C T X: 163,731,253 (GRCm39) probably benign Het
Mrpl15 A T 1: 4,847,834 (GRCm39) V155E probably damaging Het
Mstn A T 1: 53,100,953 (GRCm39) Y10F possibly damaging Het
Myo1g C T 11: 6,470,794 (GRCm39) V21M probably damaging Het
Myom2 T C 8: 15,149,326 (GRCm39) I599T probably benign Het
Ndc80 A T 17: 71,803,241 (GRCm39) N633K probably benign Het
Nhs C A X: 160,620,296 (GRCm39) V1487L possibly damaging Het
Npc1 T C 18: 12,352,382 (GRCm39) T106A probably benign Het
Nup133 C T 8: 124,675,747 (GRCm39) V57M probably benign Het
Nup98 T A 7: 101,809,923 (GRCm39) T536S probably damaging Het
Oprm1 T C 10: 6,782,652 (GRCm39) probably benign Het
Or5j1 T C 2: 86,879,492 (GRCm39) I29M probably benign Het
Or6c219 T A 10: 129,780,980 (GRCm39) H317L probably benign Het
Or8j3 A G 2: 86,029,069 (GRCm39) V9A probably benign Het
Ostf1 C T 19: 18,581,571 (GRCm39) V14I unknown Het
Pcdhb14 C A 18: 37,581,921 (GRCm39) D342E probably damaging Het
Pdia3 G A 2: 121,262,858 (GRCm39) G275S probably damaging Het
Pdpr T C 8: 111,852,387 (GRCm39) probably null Het
Plce1 G A 19: 38,705,135 (GRCm39) V847M probably damaging Het
Pon3 A G 6: 5,230,444 (GRCm39) M288T probably benign Het
Psd2 A T 18: 36,111,627 (GRCm39) D84V possibly damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Ralgapa1 T C 12: 55,712,448 (GRCm39) K1808E probably damaging Het
Ramp3 T C 11: 6,626,476 (GRCm39) probably benign Het
Rasgrf1 T A 9: 89,833,062 (GRCm39) probably benign Het
Rictor A G 15: 6,803,467 (GRCm39) probably benign Het
Rptor A T 11: 119,775,780 (GRCm39) I984F probably benign Het
Slc1a6 C T 10: 78,631,842 (GRCm39) P223S probably benign Het
Taar8b A C 10: 23,967,924 (GRCm39) V90G probably damaging Het
Tbc1d21 A G 9: 58,267,160 (GRCm39) V327A probably benign Het
Tex21 T C 12: 76,250,940 (GRCm39) T499A probably benign Het
Tg A T 15: 66,550,638 (GRCm39) D256V probably damaging Het
Tmf1 A G 6: 97,153,453 (GRCm39) S207P probably benign Het
Tpr A G 1: 150,269,158 (GRCm39) probably benign Het
Ufd1 A G 16: 18,633,637 (GRCm39) T21A probably damaging Het
Unc13a T C 8: 72,108,929 (GRCm39) D115G possibly damaging Het
Usb1 T A 8: 96,070,669 (GRCm39) F198L probably damaging Het
Utrn A T 10: 12,573,902 (GRCm39) probably benign Het
Vars1 A G 17: 35,233,276 (GRCm39) N954S probably damaging Het
Wdr17 C T 8: 55,146,131 (GRCm39) A90T possibly damaging Het
Wdr33 C T 18: 31,968,429 (GRCm39) probably benign Het
Zfp236 A G 18: 82,658,369 (GRCm39) probably benign Het
Zfp445 A T 9: 122,690,823 (GRCm39) V124E probably damaging Het
Zfp616 A T 11: 73,975,648 (GRCm39) H639L probably damaging Het
Zfyve16 C A 13: 92,657,985 (GRCm39) S642I probably damaging Het
Zswim5 C T 4: 116,842,943 (GRCm39) T896I possibly damaging Het
Other mutations in App
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00834:App APN 16 84,762,599 (GRCm39) missense probably damaging 0.99
IGL01457:App APN 16 84,900,127 (GRCm39) missense probably damaging 1.00
IGL02016:App APN 16 84,853,409 (GRCm39) missense unknown
IGL02135:App APN 16 84,876,726 (GRCm39) critical splice donor site probably null
IGL02338:App APN 16 84,970,407 (GRCm39) missense probably benign 0.01
IGL02377:App APN 16 84,879,719 (GRCm39) missense probably benign 0.07
IGL02516:App APN 16 84,752,305 (GRCm39) missense probably damaging 1.00
IGL02565:App APN 16 84,822,308 (GRCm39) splice site probably null
IGL03179:App APN 16 84,879,735 (GRCm39) missense probably damaging 1.00
BB005:App UTSW 16 84,775,134 (GRCm39) missense probably benign 0.05
BB015:App UTSW 16 84,775,134 (GRCm39) missense probably benign 0.05
LCD18:App UTSW 16 84,822,300 (GRCm39) splice site probably benign
R0349:App UTSW 16 84,810,568 (GRCm39) missense probably damaging 1.00
R0440:App UTSW 16 84,853,302 (GRCm39) nonsense probably null
R0515:App UTSW 16 84,900,232 (GRCm39) splice site probably benign
R1609:App UTSW 16 84,876,837 (GRCm39) missense probably damaging 0.97
R1703:App UTSW 16 84,762,656 (GRCm39) missense probably damaging 1.00
R2516:App UTSW 16 84,775,117 (GRCm39) missense probably damaging 0.97
R4366:App UTSW 16 84,853,321 (GRCm39) missense unknown
R4735:App UTSW 16 84,900,202 (GRCm39) missense probably damaging 0.99
R4849:App UTSW 16 84,853,322 (GRCm39) missense unknown
R4851:App UTSW 16 84,853,322 (GRCm39) missense unknown
R6254:App UTSW 16 84,775,065 (GRCm39) missense probably damaging 1.00
R6489:App UTSW 16 84,853,408 (GRCm39) missense unknown
R6796:App UTSW 16 84,917,455 (GRCm39) missense probably damaging 0.98
R7132:App UTSW 16 84,853,370 (GRCm39) missense unknown
R7194:App UTSW 16 84,822,319 (GRCm39) missense probably benign 0.40
R7456:App UTSW 16 84,970,448 (GRCm39)
R7528:App UTSW 16 84,775,146 (GRCm39) missense possibly damaging 0.89
R7594:App UTSW 16 84,876,890 (GRCm39) missense unknown
R7699:App UTSW 16 84,837,197 (GRCm39) critical splice acceptor site probably null
R7700:App UTSW 16 84,837,197 (GRCm39) critical splice acceptor site probably null
R7928:App UTSW 16 84,775,134 (GRCm39) missense probably benign 0.05
R8086:App UTSW 16 84,917,428 (GRCm39) missense unknown
R8346:App UTSW 16 84,900,145 (GRCm39) missense unknown
R8506:App UTSW 16 84,879,704 (GRCm39) missense unknown
R8902:App UTSW 16 84,876,767 (GRCm39) missense unknown
R9142:App UTSW 16 84,900,127 (GRCm39) missense probably damaging 1.00
R9244:App UTSW 16 84,759,629 (GRCm39) missense probably damaging 0.99
R9477:App UTSW 16 84,853,392 (GRCm39) missense unknown
Z1176:App UTSW 16 84,821,805 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAGATGGCTCAGCCAATCTGAGAC -3'
(R):5'- CAACTGTGGCGTGTTCGATTGC -3'

Sequencing Primer
(F):5'- TCAGCCAATCTGAGACCCATC -3'
(R):5'- ATGGCTGCTGTCCGACTC -3'
Posted On 2013-09-03