Incidental Mutation 'R8126:Aplp1'
ID 631760
Institutional Source Beutler Lab
Gene Symbol Aplp1
Ensembl Gene ENSMUSG00000006651
Gene Name amyloid beta precursor like protein 1
Synonyms
MMRRC Submission 067555-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8126 (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 A at 30141164 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 299 (D299V)
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: D299V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006828
Gene: ENSMUSG00000006651
AA Change: D299V

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: 99.8%
  • 3x: 99.7%
  • 10x: 99.0%
  • 20x: 97.3%
Validation Efficiency 95% (42/44)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,588,344 (GRCm39) V4414E possibly damaging Het
Atad2 T C 15: 57,968,987 (GRCm39) I841M probably benign Het
Bdp1 T C 13: 100,192,790 (GRCm39) E1348G probably damaging Het
Cacna1a A G 8: 85,359,881 (GRCm39) T1948A probably benign Het
Cdh12 T C 15: 21,558,393 (GRCm39) Y431H probably benign Het
Cfap74 C A 4: 155,511,831 (GRCm39) D446E Het
Clpsl2 G A 17: 28,769,702 (GRCm39) G55R probably damaging Het
Col4a4 T C 1: 82,431,007 (GRCm39) T1632A unknown Het
Csnk2a2 G A 8: 96,182,575 (GRCm39) P296L Het
Cspg4b T A 13: 113,504,697 (GRCm39) I1942N Het
Cstl1 A G 2: 148,596,591 (GRCm39) E98G probably benign Het
Ddx49 A T 8: 70,748,246 (GRCm39) I303N probably damaging Het
Ddx60 C T 8: 62,436,945 (GRCm39) A965V probably benign Het
Evl C T 12: 108,647,783 (GRCm39) R295* probably null Het
Gm14295 A G 2: 176,502,658 (GRCm39) D716G probably benign Het
Gsap T A 5: 21,475,010 (GRCm39) H556Q probably benign Het
Hsp90b1 T C 10: 86,530,246 (GRCm39) I538V probably damaging Het
Ighv1-49 C T 12: 115,019,230 (GRCm39) probably benign Het
Lrrk1 T C 7: 65,942,063 (GRCm39) N725S probably damaging Het
Mfsd4b2 A G 10: 39,797,984 (GRCm39) S124P probably benign Het
Ncoa1 A T 12: 4,340,951 (GRCm39) L827Q probably damaging Het
Ncor2 T C 5: 125,183,268 (GRCm39) N59D unknown Het
Nfkbid T A 7: 30,123,799 (GRCm39) S120T probably benign Het
Nktr T C 9: 121,575,514 (GRCm39) Y341H probably damaging Het
Npat T C 9: 53,463,634 (GRCm39) V139A probably benign Het
Or5ae1 T A 7: 84,565,114 (GRCm39) N42K probably damaging Het
Plxnb2 T C 15: 89,047,506 (GRCm39) D721G probably benign Het
Ppl C T 16: 4,906,725 (GRCm39) R1190H probably damaging Het
Ppp3ca T A 3: 136,608,952 (GRCm39) D348E probably damaging Het
Pramel21 T A 4: 143,343,635 (GRCm39) C312S possibly damaging Het
Rnf146 T C 10: 29,223,372 (GRCm39) I171M probably damaging Het
Snrpa G T 7: 26,892,373 (GRCm39) F62L possibly damaging Het
Spata3 C T 1: 85,952,075 (GRCm39) R110C unknown Het
Tbc1d2b T C 9: 90,104,369 (GRCm39) H591R probably benign Het
Tnfsf8 T G 4: 63,752,423 (GRCm39) D214A possibly damaging Het
Trdmt1 C T 2: 13,524,816 (GRCm39) R213H probably benign Het
Uspl1 C T 5: 149,151,430 (GRCm39) L877F probably damaging Het
Vmn1r22 C A 6: 57,877,669 (GRCm39) V103F possibly damaging Het
Vmn2r102 T C 17: 19,880,712 (GRCm39) S18P probably benign Het
Vmn2r-ps117 A T 17: 19,042,814 (GRCm39) Y74F probably benign Het
Wdr90 A G 17: 26,067,951 (GRCm39) F1429S possibly damaging Het
Zdhhc20 C A 14: 58,084,402 (GRCm39) V238F 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
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
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'- AGTAATCCATTGCCTGAGTGTG -3'
(R):5'- GCAAACACTGGTTAGGCCTG -3'

Sequencing Primer
(F):5'- CTCAGGTCGAAGGATGCTTG -3'
(R):5'- TTAGGCCTGGGACCATGATGC -3'
Posted On 2020-06-30