Incidental Mutation 'IGL02516:App'
ID296791
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol App
Ensembl Gene ENSMUSG00000022892
Gene Nameamyloid beta (A4) precursor protein
SynonymsAdap, Abeta, protease nexin II, E030013M08Rik, betaAPP, appican, Cvap
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.614) question?
Stock #IGL02516
Quality Score
Status
Chromosome16
Chromosomal Location84949685-85173766 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 84955417 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 743 (T743A)
Ref Sequence ENSEMBL: ENSMUSP00000154061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005406] [ENSMUST00000226232] [ENSMUST00000226801] [ENSMUST00000227021] [ENSMUST00000227723] [ENSMUST00000227737]
Predicted Effect probably damaging
Transcript: ENSMUST00000005406
AA Change: T668A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000005406
Gene: ENSMUSG00000022892
AA Change: T668A

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 probably damaging
Transcript: ENSMUST00000226232
AA Change: T724A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000226801
AA Change: T725A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect unknown
Transcript: ENSMUST00000227021
AA Change: T706A
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227654
Predicted Effect probably damaging
Transcript: ENSMUST00000227723
AA Change: T743A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect unknown
Transcript: ENSMUST00000227737
AA Change: D568G
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228375
Coding Region Coverage
Validation Efficiency
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 C T 8: 24,898,596 S364N probably damaging Het
AI314180 T C 4: 58,877,102 E111G probably damaging Het
Ano8 C T 8: 71,485,077 G47D probably damaging Het
Armc3 A G 2: 19,300,506 K692E possibly damaging Het
Arpp21 T C 9: 112,185,661 N25S probably damaging Het
Avpr1b G A 1: 131,600,629 V297I probably damaging Het
Bpi A G 2: 158,267,731 I200V possibly damaging Het
Cacna2d4 C T 6: 119,271,870 probably benign Het
Cbarp A G 10: 80,135,545 Y149H probably damaging Het
Ccdc85c T C 12: 108,274,901 N78S unknown Het
Cdcp1 G T 9: 123,173,637 L790M possibly damaging Het
Cdkn2d T A 9: 21,289,143 I111F probably benign Het
Ctsr A G 13: 61,163,178 V18A probably benign Het
Dapk1 A G 13: 60,696,347 D60G probably damaging Het
Daw1 A C 1: 83,209,228 N253T probably benign Het
Dcaf7 T A 11: 106,051,872 I215N probably damaging Het
Ddc A C 11: 11,829,125 L333R probably damaging Het
Dennd1a A G 2: 37,852,394 probably null Het
Dnah10 C A 5: 124,787,331 T2200K probably damaging Het
Dock6 T C 9: 21,802,585 Y1883C probably damaging Het
Eif2ak4 T A 2: 118,436,254 I752N probably damaging Het
Fcho2 A G 13: 98,730,212 I740T probably benign Het
Flnc A G 6: 29,450,841 D1496G probably damaging Het
Fn1 A G 1: 71,637,323 V583A possibly damaging Het
Grasp G A 15: 101,229,051 V137I probably damaging Het
Greb1l A C 18: 10,537,064 T1010P probably benign Het
Hs3st6 T C 17: 24,758,131 L195P probably damaging Het
Hyi A G 4: 118,362,483 E239G probably damaging Het
Ighv2-3 G T 12: 113,611,198 Y112* probably null Het
Ints3 A G 3: 90,403,108 F495S probably damaging Het
Itih2 T A 2: 10,097,917 H802L probably benign Het
Jag2 C T 12: 112,910,566 V990M probably damaging Het
Kat6b T C 14: 21,609,868 probably benign Het
Krtap4-8 C T 11: 99,780,342 probably benign Het
Lhx4 A G 1: 155,702,257 S380P probably damaging Het
Morn3 C A 5: 123,037,300 E33* probably null Het
Mug2 C T 6: 122,070,843 A771V probably damaging Het
N4bp3 A T 11: 51,644,334 S343T probably benign Het
Nlrp1a T C 11: 71,114,460 N643S probably damaging Het
Olfr15 A C 16: 3,839,336 D121A probably damaging Het
Olfr767 T A 10: 129,079,793 M57L possibly damaging Het
Olfr93 T A 17: 37,151,272 R79S possibly damaging Het
Phc3 A G 3: 30,948,793 F192S probably damaging Het
Pigq C T 17: 25,937,247 R69H probably benign Het
Plk3 A G 4: 117,131,989 C222R probably damaging Het
Pomt2 T C 12: 87,119,646 T490A probably benign Het
Prss29 T C 17: 25,320,901 I91T probably damaging Het
Ralgapb A T 2: 158,465,815 probably benign Het
Sccpdh G A 1: 179,681,691 G75D probably damaging Het
Serpine2 T C 1: 79,794,997 probably benign Het
Sfr1 T G 19: 47,732,990 probably null Het
Slc22a23 C A 13: 34,203,955 C386F probably benign Het
Slc22a27 T C 19: 7,864,811 K433R probably damaging Het
Slc39a12 T C 2: 14,400,335 L246P probably damaging Het
Slc4a11 A G 2: 130,691,393 I191T possibly damaging Het
Slc9c1 A G 16: 45,577,875 N668D probably damaging Het
Supt16 A T 14: 52,183,964 D41E possibly damaging Het
Ugt2b37 A G 5: 87,240,882 S491P probably damaging Het
Urb1 G T 16: 90,772,695 T1381N possibly damaging Het
Usp8 A G 2: 126,742,174 I423M probably benign Het
Vmn1r191 T A 13: 22,179,540 I15F probably benign Het
Zbtb5 A T 4: 44,993,798 Y529N probably damaging Het
Zfp541 T A 7: 16,082,993 probably null Het
Other mutations in App
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00834:App APN 16 84965711 missense probably damaging 0.99
IGL01457:App APN 16 85103239 missense probably damaging 1.00
IGL02016:App APN 16 85056521 missense unknown
IGL02135:App APN 16 85079838 critical splice donor site probably null
IGL02338:App APN 16 85173519 missense probably benign 0.01
IGL02377:App APN 16 85082831 missense probably benign 0.07
IGL02565:App APN 16 85025420 splice site probably null
IGL03179:App APN 16 85082847 missense probably damaging 1.00
LCD18:App UTSW 16 85025412 splice site probably benign
R0349:App UTSW 16 85013680 missense probably damaging 1.00
R0440:App UTSW 16 85056414 nonsense probably null
R0515:App UTSW 16 85103344 splice site probably benign
R0730:App UTSW 16 85079952 missense probably damaging 0.98
R1609:App UTSW 16 85079949 missense probably damaging 0.97
R1703:App UTSW 16 84965768 missense probably damaging 1.00
R2516:App UTSW 16 84978229 missense probably damaging 0.97
R4366:App UTSW 16 85056433 missense unknown
R4735:App UTSW 16 85103314 missense probably damaging 0.99
R4849:App UTSW 16 85056434 missense unknown
R4851:App UTSW 16 85056434 missense unknown
R6254:App UTSW 16 84978177 missense probably damaging 1.00
R6489:App UTSW 16 85056520 missense unknown
R6796:App UTSW 16 85120567 missense probably damaging 0.98
R7132:App UTSW 16 85056482 missense unknown
R7194:App UTSW 16 85025431 missense probably benign 0.40
R7456:App UTSW 16 85173560
R7528:App UTSW 16 84978258 missense possibly damaging 0.89
R7594:App UTSW 16 85080002 missense unknown
R7699:App UTSW 16 85040309 critical splice acceptor site probably null
R7700:App UTSW 16 85040309 critical splice acceptor site probably null
Posted On2015-04-16