Incidental Mutation 'R5530:Aplp1'
ID 433637
Institutional Source Beutler Lab
Gene Symbol Aplp1
Ensembl Gene ENSMUSG00000006651
Gene Name amyloid beta precursor like protein 1
Synonyms
MMRRC Submission 043088-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5530 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 30134407-30144960 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30136254 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 508 (S508G)
Ref Sequence ENSEMBL: ENSMUSP00000006828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006828]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000006828
AA Change: S508G

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000006828
Gene: ENSMUSG00000006651
AA Change: S508G

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 noncoding transcript
Transcript: ENSMUST00000207514
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207662
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208404
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208792
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.4%
  • 10x: 95.3%
  • 20x: 91.1%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb6 A G 1: 75,154,556 (GRCm39) probably benign Het
Anapc2 A G 2: 25,174,595 (GRCm39) K653E possibly damaging Het
Bend3 T A 10: 43,387,722 (GRCm39) V705D probably damaging Het
Btaf1 C A 19: 36,968,175 (GRCm39) A1120E possibly damaging Het
Carmil3 T C 14: 55,731,081 (GRCm39) V116A probably damaging Het
Cdk5rap3 A T 11: 96,802,459 (GRCm39) Y238* probably null Het
Cep170 T C 1: 176,597,076 (GRCm39) H427R probably benign Het
Cubn G A 2: 13,313,334 (GRCm39) R3079W probably damaging Het
Edc4 G T 8: 106,615,886 (GRCm39) E694* probably null Het
Entrep1 T A 19: 23,952,958 (GRCm39) T451S probably benign Het
Epb41l4b A G 4: 57,086,003 (GRCm39) S191P probably damaging Het
Fbxo46 T C 7: 18,870,727 (GRCm39) Y449H probably damaging Het
Ficd C A 5: 113,876,986 (GRCm39) P387Q probably damaging Het
Grin2b T C 6: 135,710,721 (GRCm39) T942A probably benign Het
Hoxb1 G C 11: 96,257,754 (GRCm39) R228P probably damaging Het
Jmjd1c T C 10: 67,085,541 (GRCm39) F2444L probably damaging Het
Kcnj2 T C 11: 110,962,917 (GRCm39) F103S probably damaging Het
Mapkbp1 A G 2: 119,845,836 (GRCm39) I402V probably benign Het
Mtcl2 T A 2: 156,862,262 (GRCm39) S1556C probably damaging Het
Mvp A G 7: 126,595,095 (GRCm39) V250A probably benign Het
Myo1b T A 1: 51,836,582 (GRCm39) N293I probably damaging Het
Npy5r T A 8: 67,133,512 (GRCm39) Y427F probably benign Het
Nrdc C T 4: 108,904,806 (GRCm39) T747M probably damaging Het
Nrxn2 C T 19: 6,548,397 (GRCm39) P30L possibly damaging Het
Nt5dc3 T C 10: 86,656,857 (GRCm39) F332S probably damaging Het
Optc T G 1: 133,832,828 (GRCm39) T91P probably benign Het
Or14j10 A G 17: 37,934,698 (GRCm39) I276T possibly damaging Het
Or8b12c A G 9: 37,716,103 (GRCm39) T299A probably benign Het
Otud7b A T 3: 96,048,799 (GRCm39) E92V probably damaging Het
Pgap4 A G 4: 49,586,226 (GRCm39) L314P probably benign Het
Pla2g4d A G 2: 120,100,036 (GRCm39) I677T probably benign Het
Pot1a T C 6: 25,778,893 (GRCm39) E67G probably damaging Het
Ppil6 T C 10: 41,383,494 (GRCm39) S257P probably damaging Het
Ppp1r14a T C 7: 28,988,791 (GRCm39) L11P probably benign Het
Ppp1r14bl A T 1: 23,141,071 (GRCm39) I81N probably damaging Het
Pramel13 A T 4: 144,119,232 (GRCm39) M445K probably benign Het
Rad21l A T 2: 151,499,430 (GRCm39) I257K probably benign Het
Rbm11 A G 16: 75,389,861 (GRCm39) D9G possibly damaging Het
Rhbdf2 T C 11: 116,491,488 (GRCm39) Y586C probably damaging Het
Rxfp2 A T 5: 149,980,275 (GRCm39) I276F probably damaging Het
Sec14l4 A G 11: 3,996,342 (GRCm39) *404W probably null Het
Sec16a A G 2: 26,329,264 (GRCm39) V917A probably benign Het
Sec61a2 A T 2: 5,887,461 (GRCm39) Y131* probably null Het
Sspo A T 6: 48,442,517 (GRCm39) Y2004F probably damaging Het
Stab2 T C 10: 86,783,026 (GRCm39) E674G probably benign Het
Tmf1 A G 6: 97,135,048 (GRCm39) S989P probably damaging Het
Tshz1 T C 18: 84,031,393 (GRCm39) D1005G probably damaging Het
Wdr19 T C 5: 65,385,562 (GRCm39) S555P probably benign Het
Zdhhc24 T A 19: 4,933,591 (GRCm39) probably null Het
Zfp558 A G 9: 18,367,669 (GRCm39) M373T probably benign Het
Other mutations in Aplp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01340:Aplp1 APN 7 30,143,843 (GRCm39) missense probably damaging 0.97
R0021:Aplp1 UTSW 7 30,135,241 (GRCm39) splice site probably benign
R0021:Aplp1 UTSW 7 30,135,241 (GRCm39) splice site probably benign
R0034:Aplp1 UTSW 7 30,143,867 (GRCm39) missense probably damaging 1.00
R1480:Aplp1 UTSW 7 30,135,448 (GRCm39) missense probably benign 0.01
R1538:Aplp1 UTSW 7 30,135,452 (GRCm39) missense probably benign
R2177:Aplp1 UTSW 7 30,141,946 (GRCm39) nonsense probably null
R3017:Aplp1 UTSW 7 30,135,396 (GRCm39) critical splice donor site probably null
R5143:Aplp1 UTSW 7 30,140,548 (GRCm39) missense probably damaging 1.00
R5465:Aplp1 UTSW 7 30,136,277 (GRCm39) missense probably benign
R5482:Aplp1 UTSW 7 30,139,600 (GRCm39) missense probably damaging 1.00
R6112:Aplp1 UTSW 7 30,134,902 (GRCm39) missense probably damaging 1.00
R6721:Aplp1 UTSW 7 30,139,720 (GRCm39) missense probably null 1.00
R6931:Aplp1 UTSW 7 30,142,625 (GRCm39) missense probably damaging 1.00
R7314:Aplp1 UTSW 7 30,135,414 (GRCm39) missense probably damaging 0.98
R7707:Aplp1 UTSW 7 30,142,523 (GRCm39) missense probably damaging 1.00
R7980:Aplp1 UTSW 7 30,134,992 (GRCm39) missense probably benign 0.44
R8005:Aplp1 UTSW 7 30,135,470 (GRCm39) critical splice acceptor site probably null
R8126:Aplp1 UTSW 7 30,141,164 (GRCm39) missense probably damaging 1.00
R9159:Aplp1 UTSW 7 30,141,775 (GRCm39) missense probably benign 0.26
Z1177:Aplp1 UTSW 7 30,137,704 (GRCm39) critical splice acceptor site probably null
Z1177:Aplp1 UTSW 7 30,137,614 (GRCm39) missense probably benign 0.44
Predicted Primers PCR Primer
(F):5'- TGAACGGAAGGACTCTTCTCTAGC -3'
(R):5'- TCCAATCCTTCCTGCTGGAG -3'

Sequencing Primer
(F):5'- GAAGGACTCTTCTCTAGCTTAGCATG -3'
(R):5'- GCACCTTGCGGTCTCTG -3'
Posted On 2016-10-06