Incidental Mutation 'IGL01340:Aplp1'
ID74821
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aplp1
Ensembl Gene ENSMUSG00000006651
Gene Nameamyloid beta (A4) precursor-like protein 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01340
Quality Score
Status
Chromosome7
Chromosomal Location30434982-30445535 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 30444418 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 64 (T64I)
Ref Sequence ENSEMBL: ENSMUSP00000006828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006828] [ENSMUST00000045817]
Predicted Effect probably damaging
Transcript: ENSMUST00000006828
AA Change: T64I

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000006828
Gene: ENSMUSG00000006651
AA Change: T64I

DomainStartEndE-ValueType
signal peptide 1 38 N/A INTRINSIC
A4_EXTRA 46 211 1.72e-114 SMART
low complexity region 234 247 N/A INTRINSIC
low complexity region 259 277 N/A INTRINSIC
Pfam:APP_E2 289 471 9.3e-72 PFAM
Pfam:APP_amyloid 600 651 9.4e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000045817
SMART Domains Protein: ENSMUSP00000039395
Gene: ENSMUSG00000036915

DomainStartEndE-ValueType
IG 27 117 9.18e-12 SMART
IG 128 219 5.13e-1 SMART
IG_like 230 306 8.06e0 SMART
IGc2 321 379 3.06e-8 SMART
IG_like 401 500 4.65e1 SMART
transmembrane domain 509 531 N/A INTRINSIC
low complexity region 547 565 N/A INTRINSIC
low complexity region 607 629 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140565
Predicted Effect probably benign
Transcript: ENSMUST00000170152
SMART Domains Protein: ENSMUSP00000132652
Gene: ENSMUSG00000036915

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
low complexity region 82 104 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207514
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208792
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209054
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 member of the highly conserved amyloid precursor protein gene family. The encoded protein is a membrane-associated glycoprotein that is cleaved by secretases in a manner similar to amyloid beta A4 precursor protein cleavage. This cleavage liberates an intracellular cytoplasmic fragment that may act as a transcriptional activator. The encoded protein may also play a role in synaptic maturation during cortical development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Animals homozygous for a mutation in this gene show a 10% decrease in body weight at 9 weeks of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik A C 4: 42,971,984 E439A possibly damaging Het
Abca9 T A 11: 110,130,627 I1086L probably benign Het
Adam17 A T 12: 21,330,057 C630* probably null Het
Adgrg5 T C 8: 94,937,629 L289P probably damaging Het
Bdh1 T A 16: 31,456,843 W261R probably damaging Het
Cadm2 A T 16: 66,784,785 I202N possibly damaging Het
Cd209c C T 8: 3,945,892 R6H probably benign Het
Cfap221 T A 1: 119,953,620 I371F possibly damaging Het
Cfap44 A G 16: 44,404,130 Y67C probably damaging Het
Cilp T C 9: 65,275,974 S387P probably damaging Het
Cnot1 T C 8: 95,760,537 D598G probably damaging Het
Col5a1 T C 2: 27,960,451 L520P unknown Het
Cpvl A T 6: 53,896,451 Y433* probably null Het
Cxcl1 G T 5: 90,891,575 C59F probably damaging Het
Cyth3 T A 5: 143,684,435 L33* probably null Het
Dnah2 T C 11: 69,493,184 K1069E probably damaging Het
Drosha T A 15: 12,834,023 probably benign Het
Fam83h T A 15: 76,004,036 D484V probably damaging Het
Igsf3 C A 3: 101,439,679 Y663* probably null Het
Kmt5c C T 7: 4,742,141 R44* probably null Het
Kxd1 T C 8: 70,515,443 probably null Het
Lars A G 18: 42,202,577 V1158A probably benign Het
Lmf2 A G 15: 89,352,872 F413S probably damaging Het
Mc4r C T 18: 66,859,158 A295T probably benign Het
Mrc1 T C 2: 14,310,084 probably null Het
Mtmr7 T C 8: 40,597,422 Y110C probably damaging Het
Myd88 A C 9: 119,337,352 probably benign Het
Ndc1 T C 4: 107,374,147 V95A probably damaging Het
Ntrk1 T A 3: 87,788,714 E163V possibly damaging Het
Olfr1208 T C 2: 88,896,977 T207A probably damaging Het
Pappa A T 4: 65,323,872 D1491V possibly damaging Het
Phc3 T A 3: 30,929,884 I673F possibly damaging Het
Pkhd1 A T 1: 20,522,977 N1637K probably benign Het
Relb T C 7: 19,616,373 I218V probably benign Het
Rgma T C 7: 73,417,330 F111S probably damaging Het
Slco1a6 A T 6: 142,109,383 N278K possibly damaging Het
Slfn9 A T 11: 82,981,751 F720I probably benign Het
Snd1 T A 6: 28,883,369 V741E probably benign Het
Snx6 C T 12: 54,754,309 R185Q probably damaging Het
Telo2 G A 17: 25,100,129 probably benign Het
Wdr91 A G 6: 34,904,579 S278P probably benign Het
Xab2 A T 8: 3,614,381 D277E probably damaging Het
Zbbx T C 3: 75,105,650 E158G possibly damaging Het
Other mutations in Aplp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0021:Aplp1 UTSW 7 30435816 splice site probably benign
R0021:Aplp1 UTSW 7 30435816 splice site probably benign
R0034:Aplp1 UTSW 7 30444442 missense probably damaging 1.00
R1480:Aplp1 UTSW 7 30436023 missense probably benign 0.01
R1538:Aplp1 UTSW 7 30436027 missense probably benign
R2177:Aplp1 UTSW 7 30442521 nonsense probably null
R3017:Aplp1 UTSW 7 30435971 critical splice donor site probably null
R5143:Aplp1 UTSW 7 30441123 missense probably damaging 1.00
R5465:Aplp1 UTSW 7 30436852 missense probably benign
R5482:Aplp1 UTSW 7 30440175 missense probably damaging 1.00
R5530:Aplp1 UTSW 7 30436829 missense possibly damaging 0.70
R6112:Aplp1 UTSW 7 30435477 missense probably damaging 1.00
R6721:Aplp1 UTSW 7 30440295 missense probably null 1.00
R6931:Aplp1 UTSW 7 30443200 missense probably damaging 1.00
R7314:Aplp1 UTSW 7 30435989 missense probably damaging 0.98
R7707:Aplp1 UTSW 7 30443098 missense probably damaging 1.00
R7980:Aplp1 UTSW 7 30435567 missense probably benign 0.44
R8005:Aplp1 UTSW 7 30436045 critical splice acceptor site probably null
R8126:Aplp1 UTSW 7 30441739 missense probably damaging 1.00
Z1177:Aplp1 UTSW 7 30438189 missense probably benign 0.44
Z1177:Aplp1 UTSW 7 30438279 critical splice acceptor site probably null
Posted On2013-10-07