Incidental Mutation 'R6032:Aplp2'
ID 480453
Institutional Source Beutler Lab
Gene Symbol Aplp2
Ensembl Gene ENSMUSG00000031996
Gene Name amyloid beta precursor-like protein 2
Synonyms
MMRRC Submission 044204-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6032 (G1)
Quality Score 212.009
Status Not validated
Chromosome 9
Chromosomal Location 31060853-31123111 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 31062240 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 672 (R672H)
Ref Sequence ENSEMBL: ENSMUSP00000149023 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072634] [ENSMUST00000079758] [ENSMUST00000217641]
AlphaFold Q06335
Predicted Effect probably damaging
Transcript: ENSMUST00000072634
AA Change: R728H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072428
Gene: ENSMUSG00000031996
AA Change: R728H

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: R684H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078694
Gene: ENSMUSG00000031996
AA Change: R684H

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 noncoding transcript
Transcript: ENSMUST00000214396
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216921
Predicted Effect probably damaging
Transcript: ENSMUST00000217641
AA Change: R672H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.4698 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 96.0%
  • 20x: 85.5%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
A2ml1 T A 6: 128,526,799 (GRCm39) K1071* probably null Het
Abca13 G T 11: 9,247,752 (GRCm39) V2500F possibly damaging Het
Adamdec1 T C 14: 68,816,633 (GRCm39) E85G probably damaging Het
Aldh8a1 T C 10: 21,264,970 (GRCm39) V199A probably benign Het
Aoc2 G A 11: 101,216,627 (GRCm39) V237M probably damaging Het
Apob A G 12: 8,045,513 (GRCm39) N886S probably benign Het
Ascc3 C T 10: 50,718,279 (GRCm39) R1991* probably null Het
Atp6v1a T C 16: 43,927,303 (GRCm39) Y328C probably damaging Het
Bag4 T C 8: 26,267,521 (GRCm39) Y103C probably damaging Het
Crem C T 18: 3,267,673 (GRCm39) R190Q probably damaging Het
Crybg1 A G 10: 43,832,756 (GRCm39) S2000P probably damaging Het
Cubn T A 2: 13,329,995 (GRCm39) T2629S probably benign Het
Cyp3a44 G T 5: 145,714,756 (GRCm39) S465Y probably damaging Het
Daam2 A C 17: 49,793,525 (GRCm39) F331V probably damaging Het
Dnajc3 T C 14: 119,205,443 (GRCm39) S146P possibly damaging Het
Dscam A G 16: 96,451,191 (GRCm39) probably null Het
Fam184b G A 5: 45,740,238 (GRCm39) S316L probably benign Het
Fat2 G C 11: 55,144,760 (GRCm39) T4038S probably damaging Het
Fbxl19 C T 7: 127,360,437 (GRCm39) R439C probably damaging Het
Gm3454 T A 15: 75,183,448 (GRCm39) noncoding transcript Het
Gpatch3 A G 4: 133,305,617 (GRCm39) E284G probably benign Het
Grm1 A T 10: 10,595,549 (GRCm39) I693N probably damaging Het
Gsdme T A 6: 50,222,934 (GRCm39) Q127L probably damaging Het
Ifnlr1 A G 4: 135,432,937 (GRCm39) K458E probably benign Het
Kcns2 T C 15: 34,839,080 (GRCm39) F148L probably benign Het
Lama1 A G 17: 68,057,638 (GRCm39) T571A probably benign Het
Loxhd1 G A 18: 77,469,254 (GRCm39) V108M probably damaging Het
Mef2c A T 13: 83,810,478 (GRCm39) T375S probably benign Het
Ncor1 A T 11: 62,264,147 (GRCm39) D144E possibly damaging Het
Nos3 A T 5: 24,584,809 (GRCm39) T738S probably benign Het
Nrxn2 A T 19: 6,567,162 (GRCm39) T1353S probably damaging Het
Or2b7 G T 13: 21,740,077 (GRCm39) S38R probably benign Het
Or4f4b T C 2: 111,314,195 (GRCm39) L140P probably damaging Het
Or8g17 A G 9: 38,930,261 (GRCm39) I192T probably benign Het
Pfpl A G 19: 12,406,747 (GRCm39) T333A probably damaging Het
Postn A T 3: 54,284,137 (GRCm39) I565F possibly damaging Het
Ppef2 A G 5: 92,378,383 (GRCm39) V604A probably benign Het
Pramel13 A C 4: 144,119,598 (GRCm39) I323S possibly damaging Het
Rel A G 11: 23,692,684 (GRCm39) S450P probably benign Het
Rpap2 A C 5: 107,745,661 (GRCm39) D3A probably damaging Het
Shisa9 T C 16: 11,802,772 (GRCm39) F110L possibly damaging Het
Slc25a10 A T 11: 120,385,784 (GRCm39) probably null Het
Slx4 A T 16: 3,798,021 (GRCm39) F1454L probably damaging Het
Smc1b A T 15: 84,950,430 (GRCm39) V1198D possibly damaging Het
Supt5 T C 7: 28,015,600 (GRCm39) Y879C probably damaging Het
Tbx15 T C 3: 99,259,833 (GRCm39) M568T probably benign Het
Tle4 T C 19: 14,429,472 (GRCm39) H698R possibly damaging Het
Trappc9 T C 15: 72,797,379 (GRCm39) N803D probably benign Het
Trim10 A T 17: 37,182,606 (GRCm39) R157S possibly damaging Het
Wsb1 T C 11: 79,131,025 (GRCm39) probably benign Het
Zfp106 T C 2: 120,365,874 (GRCm39) S178G probably benign Het
Zftraf1 C T 15: 76,543,058 (GRCm39) R34Q probably damaging 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
R1755:Aplp2 UTSW 9 31,088,400 (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
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
Posted On 2017-06-26