Incidental Mutation 'R0034:Aplp1'
ID 212430
Institutional Source Beutler Lab
Gene Symbol Aplp1
Ensembl Gene ENSMUSG00000006651
Gene Name amyloid beta precursor like protein 1
Synonyms
MMRRC Submission 038328-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0034 (G1)
Quality Score 48
Status Validated
Chromosome 7
Chromosomal Location 30134407-30144960 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 30143867 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 56 (V56G)
Ref Sequence ENSEMBL: ENSMUSP00000006828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006828] [ENSMUST00000045817]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000006828
AA Change: V56G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006828
Gene: ENSMUSG00000006651
AA Change: V56G

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
Meta Mutation Damage Score 0.8314 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.8%
  • 20x: 96.4%
Validation Efficiency 98% (64/65)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430038I01Rik C T 7: 136,989,321 (GRCm39) R60Q probably benign Het
Angpt4 C T 2: 151,771,311 (GRCm39) T209I probably benign Het
Ap3b1 T C 13: 94,616,393 (GRCm39) probably benign Het
Asns G A 6: 7,676,299 (GRCm39) P419L probably damaging Het
Atxn7 A T 14: 14,100,846 (GRCm38) H844L probably damaging Het
Cd14 A G 18: 36,859,288 (GRCm39) Y56H probably benign Het
Cd300lb C T 11: 114,819,225 (GRCm39) V135I probably damaging Het
Cep152 C T 2: 125,425,813 (GRCm39) A851T probably benign Het
Cfap74 C T 4: 155,545,344 (GRCm39) probably benign Het
Col28a1 T A 6: 8,175,708 (GRCm39) I47L probably benign Het
Dnaaf9 T C 2: 130,578,492 (GRCm39) H664R probably damaging Het
Eef1d T C 15: 75,774,808 (GRCm39) T200A probably benign Het
Exoc1l A G 5: 76,664,377 (GRCm39) I155M probably damaging Het
Faap100 A T 11: 120,262,973 (GRCm39) M795K probably benign Het
Gabpb1 C T 2: 126,500,454 (GRCm39) R15Q possibly damaging Het
Gata4 C A 14: 63,438,933 (GRCm39) M381I probably benign Het
Gm5114 A G 7: 39,058,282 (GRCm39) S446P possibly damaging Het
Gnb1 T A 4: 155,636,146 (GRCm39) N155K probably benign Het
Haspin G A 11: 73,029,044 (GRCm39) T15M probably damaging Het
Heatr5a A G 12: 51,971,955 (GRCm39) L745P probably damaging Het
Kcng3 T A 17: 83,895,812 (GRCm39) probably benign Het
Kif15 A T 9: 122,828,350 (GRCm39) N887I possibly damaging Het
Kif26a T C 12: 112,135,397 (GRCm39) probably benign Het
Kif9 G A 9: 110,348,679 (GRCm39) C738Y probably benign Het
Kifc2 G T 15: 76,551,300 (GRCm39) C613F probably benign Het
Klf12 A G 14: 100,224,865 (GRCm39) probably null Het
Lrp1 A T 10: 127,381,520 (GRCm39) I3826N probably benign Het
Map2k4 A G 11: 65,610,437 (GRCm39) probably benign Het
Myo7b A G 18: 32,093,913 (GRCm39) S2006P probably damaging Het
Or51m1 T C 7: 103,578,708 (GRCm39) V226A probably benign Het
Pax4 T C 6: 28,442,448 (GRCm39) T285A probably benign Het
Pcdhb5 A G 18: 37,455,137 (GRCm39) N506D probably damaging Het
Pkhd1l1 G A 15: 44,367,405 (GRCm39) G768S probably benign Het
Plb1 G T 5: 32,430,457 (GRCm39) G138V probably benign Het
Poln A C 5: 34,272,762 (GRCm39) V398G possibly damaging Het
Poteg A G 8: 27,952,105 (GRCm39) probably benign Het
Rapgef1 C A 2: 29,614,780 (GRCm39) probably benign Het
Rbm43 A T 2: 51,815,722 (GRCm39) D166E probably benign Het
Rhobtb2 T C 14: 70,026,137 (GRCm39) T602A probably benign Het
Samd3 G A 10: 26,147,398 (GRCm39) probably benign Het
Sbno2 A C 10: 79,894,174 (GRCm39) probably benign Het
Sec1 A G 7: 45,328,759 (GRCm39) V96A probably benign Het
Senp7 A C 16: 55,973,933 (GRCm39) S385R possibly damaging Het
Sgk3 T C 1: 9,955,902 (GRCm39) V301A probably damaging Het
Sgpl1 A T 10: 60,938,392 (GRCm39) M467K probably damaging Het
Slc22a26 A G 19: 7,779,618 (GRCm39) I66T probably benign Het
Stra6 G A 9: 58,058,752 (GRCm39) probably null Het
Tfrc T A 16: 32,434,214 (GRCm39) probably null Het
Tmem30b T C 12: 73,592,779 (GRCm39) Y112C probably damaging Het
Trap1 A T 16: 3,886,894 (GRCm39) probably benign Het
Trpc1 A G 9: 95,631,814 (GRCm39) S43P probably damaging Het
Tsku T C 7: 98,001,870 (GRCm39) T154A possibly damaging Het
Uroc1 T C 6: 90,322,292 (GRCm39) V272A probably damaging Het
Vmn1r69 T A 7: 10,314,738 (GRCm39) probably benign Het
Vmn2r1 T A 3: 63,997,435 (GRCm39) W364R probably damaging Het
Wnk2 G T 13: 49,221,556 (GRCm39) T377K possibly damaging Het
Zfta C A 19: 7,397,724 (GRCm39) H90Q probably damaging Het
Zscan20 T C 4: 128,479,455 (GRCm39) N1012S 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
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
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'- TAGACTCTGCCAAGTCCAGCTTCC -3'
(R):5'- TGTCTTCTCAGCAACAAGGCCG -3'

Sequencing Primer
(F):5'- CAAGTCCAGCTTCCTCAAGG -3'
(R):5'- CAGGTCACCATAGCAACGGG -3'
Posted On 2014-07-02