Incidental Mutation 'R7314:Aplp1'
ID 567825
Institutional Source Beutler Lab
Gene Symbol Aplp1
Ensembl Gene ENSMUSG00000006651
Gene Name amyloid beta precursor like protein 1
Synonyms
MMRRC Submission 045412-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7314 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 30134407-30144960 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30135414 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 548 (E548G)
Ref Sequence ENSEMBL: ENSMUSP00000006828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006828]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000006828
AA Change: E548G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000006828
Gene: ENSMUSG00000006651
AA Change: E548G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (44/44)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020L13Rik G A 7: 29,989,320 (GRCm39) V177I unknown Het
4930596D02Rik A G 14: 35,533,606 (GRCm39) V54A probably benign Het
Abcc10 C A 17: 46,626,330 (GRCm39) A704S probably damaging Het
Adss2 A G 1: 177,595,317 (GRCm39) W408R probably damaging Het
C4b C T 17: 34,959,330 (GRCm39) V415I probably benign Het
Celsr3 T C 9: 108,706,343 (GRCm39) V942A probably damaging Het
Cstf1 A G 2: 172,214,954 (GRCm39) D25G probably damaging Het
Dnah14 A T 1: 181,612,819 (GRCm39) probably null Het
Dnah9 G A 11: 65,880,677 (GRCm39) T2640I probably benign Het
Dnase2b T C 3: 146,288,151 (GRCm39) I315V probably damaging Het
Endod1 T C 9: 14,268,295 (GRCm39) S397G probably benign Het
Eps8 A G 6: 137,504,090 (GRCm39) V171A possibly damaging Het
Ghdc T C 11: 100,659,928 (GRCm39) E273G probably damaging Het
Hmgn2-ps C T 8: 73,058,839 (GRCm39) G63R probably damaging Het
Hspbap1 T A 16: 35,645,541 (GRCm39) S409T probably benign Het
Ireb2 T C 9: 54,799,794 (GRCm39) Y412H probably damaging Het
Jph4 TCCATTCTCGTATACCCCA TCCA 14: 55,347,196 (GRCm39) probably benign Het
Klhl6 A G 16: 19,775,755 (GRCm39) Y268H probably damaging Het
Krt16 T C 11: 100,138,695 (GRCm39) D197G probably damaging Het
Lca5 T C 9: 83,277,563 (GRCm39) K594E possibly damaging Het
Lgi3 T C 14: 70,769,552 (GRCm39) F84S probably damaging Het
Lingo3 T C 10: 80,670,707 (GRCm39) I408V possibly damaging Het
Map3k7 G T 4: 31,985,769 (GRCm39) E231* probably null Het
Nrip1 A G 16: 76,088,078 (GRCm39) S1160P probably benign Het
Oas1g A T 5: 121,016,526 (GRCm39) L301Q probably damaging Het
Obox3 T A 7: 15,361,079 (GRCm39) Q62L possibly damaging Het
Or5d37 A G 2: 87,923,458 (GRCm39) L274P probably benign Het
Or6b13 A T 7: 139,782,326 (GRCm39) V119D probably damaging Het
Parp8 G T 13: 117,004,996 (GRCm39) F727L probably benign Het
Pcdha1 T C 18: 37,064,553 (GRCm39) Y406H probably damaging Het
Pcdhgb8 A G 18: 37,896,052 (GRCm39) D374G probably damaging Het
Pdzd8 A T 19: 59,289,783 (GRCm39) L539* probably null Het
Phkb A G 8: 86,669,021 (GRCm39) probably null Het
Ppp1r13b T C 12: 111,812,790 (GRCm39) E143G probably damaging Het
Rpap2 T C 5: 107,768,245 (GRCm39) V361A probably damaging Het
Setd4 T C 16: 93,384,711 (GRCm39) T326A probably benign Het
Smad9 A G 3: 54,696,744 (GRCm39) N270D probably benign Het
Sntg2 A G 12: 30,317,107 (GRCm39) S172P probably benign Het
Tecpr1 A G 5: 144,154,150 (GRCm39) L101P probably damaging Het
Tmco3 G A 8: 13,369,605 (GRCm39) probably null Het
Tmprss11f T C 5: 86,671,912 (GRCm39) T427A possibly damaging Het
Trhr2 A G 8: 123,085,489 (GRCm39) V165A possibly damaging Het
Ubr3 T A 2: 69,821,944 (GRCm39) L1402Q probably damaging Het
Vps13c T A 9: 67,850,622 (GRCm39) probably null Het
Zfp369 T C 13: 65,439,918 (GRCm39) S201P probably damaging 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
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
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'- CGCTGGATATCTGACGAGTG -3'
(R):5'- GGTCATCAAATCCCTCTGAACC -3'

Sequencing Primer
(F):5'- ATGCATTCACCTGGGGAAGC -3'
(R):5'- TCTGAACCCTAAACCACGAAGGG -3'
Posted On 2019-06-26