Incidental Mutation 'R3017:Aplp1'
ID 257667
Institutional Source Beutler Lab
Gene Symbol Aplp1
Ensembl Gene ENSMUSG00000006651
Gene Name amyloid beta precursor like protein 1
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3017 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 30134407-30144960 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 30135396 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000006828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006828]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000006828
SMART Domains Protein: ENSMUSP00000006828
Gene: ENSMUSG00000006651

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.4%
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: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox4 T C 1: 58,274,363 (GRCm39) V383A probably benign Het
Bahd1 C T 2: 118,746,887 (GRCm39) P169S probably damaging Het
Gmnc G A 16: 26,779,165 (GRCm39) H281Y probably benign Het
Gusb T C 5: 130,029,325 (GRCm39) D152G probably damaging Het
Kcnk4 A T 19: 6,905,162 (GRCm39) V163E probably damaging Het
Lcmt1 T G 7: 123,029,359 (GRCm39) L327W probably damaging Het
Med18 G A 4: 132,187,128 (GRCm39) R124C probably damaging Het
Odf1 A G 15: 38,226,675 (GRCm39) T192A unknown Het
Pitpna C T 11: 75,483,016 (GRCm39) R8W probably damaging Het
Pkn1 A G 8: 84,396,799 (GRCm39) Y951H probably benign Het
Rad18 T C 6: 112,658,327 (GRCm39) T193A possibly damaging Het
Ruvbl2 G T 7: 45,071,588 (GRCm39) L432I probably damaging Het
Slco1a4 T C 6: 141,758,396 (GRCm39) probably null Het
Tlr11 T A 14: 50,600,178 (GRCm39) C721* probably null Het
Tubgcp6 A T 15: 88,987,285 (GRCm39) C1229* probably null Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null 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
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
R5530:Aplp1 UTSW 7 30,136,254 (GRCm39) missense possibly damaging 0.70
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'- GCTGGATATCTGACGAGTGG -3'
(R):5'- GGTCATCAAATCCCTCTGAACC -3'

Sequencing Primer
(F):5'- TCGGGGCGGATGCATTC -3'
(R):5'- TCTGAACCCTAAACCACGAAGGG -3'
Posted On 2015-01-11