Incidental Mutation 'R1755:Aplp2'
ID 194784
Institutional Source Beutler Lab
Gene Symbol Aplp2
Ensembl Gene ENSMUSG00000031996
Gene Name amyloid beta precursor-like protein 2
Synonyms
MMRRC Submission 039787-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1755 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 31060853-31123111 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 31088400 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 106 (A106V)
Ref Sequence ENSEMBL: ENSMUSP00000149023 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072634] [ENSMUST00000079758] [ENSMUST00000213254] [ENSMUST00000217641]
AlphaFold Q06335
Predicted Effect probably damaging
Transcript: ENSMUST00000072634
AA Change: A106V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072428
Gene: ENSMUSG00000031996
AA Change: A106V

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
A4_EXTRA 42 204 7.91e-123 SMART
low complexity region 218 232 N/A INTRINSIC
coiled coil region 242 269 N/A INTRINSIC
KU 308 361 3.52e-24 SMART
Pfam:APP_E2 365 547 1.6e-71 PFAM
low complexity region 555 568 N/A INTRINSIC
low complexity region 589 595 N/A INTRINSIC
low complexity region 597 609 N/A INTRINSIC
Pfam:APP_amyloid 697 747 1.5e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000079758
AA Change: A106V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078694
Gene: ENSMUSG00000031996
AA Change: A106V

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
A4_EXTRA 42 204 7.91e-123 SMART
low complexity region 218 232 N/A INTRINSIC
coiled coil region 242 269 N/A INTRINSIC
Pfam:APP_E2 307 492 2.3e-75 PFAM
low complexity region 499 512 N/A INTRINSIC
low complexity region 533 539 N/A INTRINSIC
low complexity region 541 553 N/A INTRINSIC
Pfam:APP_amyloid 652 703 1.5e-32 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213254
AA Change: A106V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000217641
AA Change: A106V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.2%
  • 20x: 92.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes amyloid precursor- like protein 2 (APLP2), which is a member of the APP (amyloid precursor protein) family including APP, APLP1 and APLP2. This protein is ubiquitously expressed. It contains heparin-, copper- and zinc- binding domains at the N-terminus, BPTI/Kunitz inhibitor and E2 domains in the middle region, and transmembrane and intracellular domains at the C-terminus. This protein interacts with major histocompatibility complex (MHC) class I molecules. The synergy of this protein and the APP is required to mediate neuromuscular transmission, spatial learning and synaptic plasticity. This protein has been implicated in the pathogenesis of Alzheimer's disease. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygotes for two different targeted alleles show embryonic lethality, or viability and fertility with increased copper levels in cerebral cortex and liver. Double knockouts with App show high mortality, reduced growth, and neurological symptoms. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402J07Rik G A 8: 88,315,585 (GRCm39) R225H possibly damaging Het
9330159F19Rik A T 10: 29,098,290 (GRCm39) H199L possibly damaging Het
Acaca AC A 11: 84,167,390 (GRCm39) probably null Het
Adam23 G A 1: 63,582,329 (GRCm39) V326M probably damaging Het
Aldh1a2 T A 9: 71,169,023 (GRCm39) Y168* probably null Het
Ano6 A G 15: 95,870,451 (GRCm39) K869E possibly damaging Het
Arhgdib T A 6: 136,906,612 (GRCm39) K30* probably null Het
Arl11 A G 14: 61,548,393 (GRCm39) T68A probably benign Het
Atg7 A G 6: 114,650,638 (GRCm39) T83A possibly damaging Het
Card9 T C 2: 26,249,546 (GRCm39) E5G probably damaging Het
Cars1 A G 7: 143,123,194 (GRCm39) V474A probably damaging Het
Cd300ld2 A G 11: 114,904,601 (GRCm39) F89L probably benign Het
Celf2 T A 2: 6,889,769 (GRCm39) M1L probably benign Het
Cnot1 T C 8: 96,451,205 (GRCm39) D2174G probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cox6b2 A G 7: 4,754,937 (GRCm39) F74S probably damaging Het
Cyp11b1 T A 15: 74,710,383 (GRCm39) Q306L probably benign Het
Ddx3y A G Y: 1,279,543 (GRCm39) I107T probably benign Het
Dnah5 A T 15: 28,326,782 (GRCm39) Y1997F probably damaging Het
Dync2i1 A G 12: 116,189,649 (GRCm39) L620P probably damaging Het
Epha4 A T 1: 77,364,460 (GRCm39) I683N probably damaging Het
Fam120a G T 13: 49,039,219 (GRCm39) A979E possibly damaging Het
Gmip A G 8: 70,266,774 (GRCm39) I296M probably damaging Het
Gpr37l1 A G 1: 135,094,639 (GRCm39) S202P probably damaging Het
Ifi208 C A 1: 173,505,476 (GRCm39) D75E possibly damaging Het
Il24 T C 1: 130,811,680 (GRCm39) N132S possibly damaging Het
Katnal2 A G 18: 77,099,763 (GRCm39) C124R probably benign Het
Kcnq3 A T 15: 65,867,270 (GRCm39) L791Q probably damaging Het
Kcns3 T A 12: 11,141,445 (GRCm39) D418V probably benign Het
Kif13a A G 13: 46,906,089 (GRCm39) V618A possibly damaging Het
Kif13a A T 13: 46,927,154 (GRCm39) V1179E possibly damaging Het
Lpp A G 16: 24,663,874 (GRCm39) I259V probably benign Het
Mapkapk2 A G 1: 130,986,087 (GRCm39) probably null Het
Marchf7 T C 2: 60,065,265 (GRCm39) S514P probably benign Het
Nr4a2 T A 2: 56,999,104 (GRCm39) L381F probably damaging Het
Nt5dc3 A G 10: 86,660,115 (GRCm39) D328G probably damaging Het
Obox6 T C 7: 15,568,445 (GRCm39) K144E probably damaging Het
Oga A T 19: 45,746,845 (GRCm39) M735K possibly damaging Het
Olfml2b G A 1: 170,509,346 (GRCm39) V565M probably damaging Het
Or1d2 T C 11: 74,255,819 (GRCm39) V108A probably damaging Het
Orc3 G A 4: 34,575,114 (GRCm39) A590V possibly damaging Het
Picalm T C 7: 89,809,757 (GRCm39) S78P possibly damaging Het
Por T A 5: 135,758,339 (GRCm39) Y105* probably null Het
Ppara A G 15: 85,682,180 (GRCm39) K292R probably benign Het
Pramel27 T C 4: 143,577,380 (GRCm39) F3S probably damaging Het
Prss59 T G 6: 40,903,096 (GRCm39) Y92S probably damaging Het
Ralgds T A 2: 28,440,558 (GRCm39) I844N probably damaging Het
Rttn T C 18: 89,027,441 (GRCm39) Y519H probably damaging Het
Scn9a A G 2: 66,332,060 (GRCm39) V1261A probably benign Het
Slc2a2 T A 3: 28,767,811 (GRCm39) probably null Het
Slc5a7 T C 17: 54,600,006 (GRCm39) M136V probably benign Het
Smc4 C A 3: 68,941,441 (GRCm39) A1232E probably damaging Het
Smg1 A T 7: 117,802,287 (GRCm39) C270* probably null Het
Sparcl1 C T 5: 104,240,690 (GRCm39) E245K probably benign Het
Taf2 T C 15: 54,879,850 (GRCm39) H1162R probably damaging Het
Tlr3 T C 8: 45,851,010 (GRCm39) D105G probably benign Het
Tmem62 T C 2: 120,814,958 (GRCm39) probably null Het
Triobp G A 15: 78,850,679 (GRCm39) A278T probably benign Het
Ufd1 T G 16: 18,642,003 (GRCm39) C151W probably damaging Het
Upk1b T G 16: 38,600,402 (GRCm39) M193L probably benign Het
Usp15 A G 10: 122,968,949 (GRCm39) M334T probably damaging Het
Utp20 A G 10: 88,645,631 (GRCm39) S541P probably benign Het
Vmn1r61 A T 7: 5,614,302 (GRCm39) L4* probably null Het
Vmn2r96 G A 17: 18,802,915 (GRCm39) G83D possibly damaging Het
Zbtb8a T C 4: 129,248,110 (GRCm39) D387G possibly damaging Het
Zfp106 A T 2: 120,365,656 (GRCm39) N250K probably damaging Het
Zfp292 A G 4: 34,811,043 (GRCm39) V667A probably benign Het
Other mutations in Aplp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02067:Aplp2 APN 9 31,062,191 (GRCm39) missense probably damaging 1.00
IGL02152:Aplp2 APN 9 31,122,947 (GRCm39) missense unknown
IGL02309:Aplp2 APN 9 31,078,979 (GRCm39) missense possibly damaging 0.80
IGL02407:Aplp2 APN 9 31,069,823 (GRCm39) nonsense probably null
IGL02623:Aplp2 APN 9 31,089,379 (GRCm39) splice site probably benign
IGL02737:Aplp2 APN 9 31,064,712 (GRCm39) missense probably benign
IGL02958:Aplp2 APN 9 31,075,972 (GRCm39) splice site probably benign
R0211:Aplp2 UTSW 9 31,069,086 (GRCm39) missense probably damaging 0.99
R0279:Aplp2 UTSW 9 31,069,086 (GRCm39) missense probably damaging 0.99
R1669:Aplp2 UTSW 9 31,079,029 (GRCm39) intron probably benign
R1707:Aplp2 UTSW 9 31,062,215 (GRCm39) missense probably damaging 1.00
R2512:Aplp2 UTSW 9 31,078,973 (GRCm39) missense probably damaging 1.00
R2842:Aplp2 UTSW 9 31,069,122 (GRCm39) missense probably benign 0.12
R4031:Aplp2 UTSW 9 31,069,026 (GRCm39) missense probably benign 0.00
R4115:Aplp2 UTSW 9 31,069,122 (GRCm39) missense probably benign 0.12
R5725:Aplp2 UTSW 9 31,069,110 (GRCm39) missense probably damaging 1.00
R6032:Aplp2 UTSW 9 31,062,240 (GRCm39) missense probably damaging 1.00
R6032:Aplp2 UTSW 9 31,062,240 (GRCm39) missense probably damaging 1.00
R6375:Aplp2 UTSW 9 31,069,084 (GRCm39) missense probably benign 0.00
R7170:Aplp2 UTSW 9 31,081,739 (GRCm39) missense probably benign 0.03
R7541:Aplp2 UTSW 9 31,063,652 (GRCm39) missense possibly damaging 0.82
R7584:Aplp2 UTSW 9 31,069,077 (GRCm39) missense possibly damaging 0.56
R7711:Aplp2 UTSW 9 31,072,645 (GRCm39) missense probably damaging 1.00
R8092:Aplp2 UTSW 9 31,074,640 (GRCm39) critical splice donor site probably null
R8367:Aplp2 UTSW 9 31,089,202 (GRCm39) missense probably damaging 1.00
R9343:Aplp2 UTSW 9 31,122,935 (GRCm39) missense unknown
R9400:Aplp2 UTSW 9 31,075,855 (GRCm39) missense possibly damaging 0.89
R9711:Aplp2 UTSW 9 31,083,303 (GRCm39) missense probably benign 0.05
Z1187:Aplp2 UTSW 9 31,063,637 (GRCm39) missense possibly damaging 0.70
Predicted Primers PCR Primer
(F):5'- TTCACAATGGGAGAGGCAGTCAAC -3'
(R):5'- GGTCACAGGCAGGTTTAATGACCAG -3'

Sequencing Primer
(F):5'- GTCAACTCAGAGATGAAGTCTACC -3'
(R):5'- AGGCAAGTCAGATGATTCTGTTCTC -3'
Posted On 2014-05-23