Incidental Mutation 'IGL02309:Aplp2'
ID287745
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aplp2
Ensembl Gene ENSMUSG00000031996
Gene Nameamyloid beta (A4) precursor-like protein 2
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02309
Quality Score
Status
Chromosome9
Chromosomal Location31149557-31211815 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 31167683 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 323 (M323K)
Ref Sequence ENSEMBL: ENSMUSP00000149732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072634] [ENSMUST00000079758] [ENSMUST00000213254] [ENSMUST00000217641]
Predicted Effect possibly damaging
Transcript: ENSMUST00000072634
AA Change: M323K

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000072428
Gene: ENSMUSG00000031996
AA Change: M323K

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 benign
Transcript: ENSMUST00000079758
SMART Domains Protein: ENSMUSP00000078694
Gene: ENSMUSG00000031996

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 possibly damaging
Transcript: ENSMUST00000213254
AA Change: M323K

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214908
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217516
Predicted Effect probably benign
Transcript: ENSMUST00000217641
Coding Region Coverage
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 A G 9: 44,281,828 F111S probably benign Het
Afg1l C A 10: 42,454,378 V98F possibly damaging Het
Agk T A 6: 40,376,276 D191E possibly damaging Het
Akap5 A G 12: 76,328,855 K354E possibly damaging Het
Arhgap23 T C 11: 97,466,001 probably benign Het
Asl A G 5: 130,019,781 Y30H probably damaging Het
Asxl3 T A 18: 22,522,453 H1173Q probably benign Het
Celsr2 C T 3: 108,396,011 R2472H probably damaging Het
Clip1 T A 5: 123,617,700 H950L probably damaging Het
Cx3cl1 A T 8: 94,780,032 T222S probably benign Het
Cyp4a14 T A 4: 115,491,632 N273Y probably damaging Het
Ddx52 T A 11: 83,948,478 S214T probably damaging Het
Dennd2d T A 3: 106,494,968 M318K probably benign Het
Dock3 A T 9: 106,913,152 D1E probably damaging Het
Farp1 C T 14: 121,243,516 T443I probably benign Het
Gm2381 C T 7: 42,822,609 probably benign Het
Gpr87 T A 3: 59,179,554 I178F possibly damaging Het
Grin2b C T 6: 135,736,472 E804K probably damaging Het
Gtf2h1 T C 7: 46,816,388 L421P probably damaging Het
Haghl T G 17: 25,784,664 H56P probably damaging Het
Heatr3 T C 8: 88,167,072 L489P probably damaging Het
Ighv6-6 A T 12: 114,434,914 H77Q probably benign Het
Kdm2b A G 5: 122,947,820 S243P probably damaging Het
Lamc3 T C 2: 31,914,604 probably benign Het
Lgr4 T C 2: 110,012,535 probably benign Het
Lhx3 T C 2: 26,201,373 Q308R probably benign Het
Lonp2 G A 8: 86,634,863 E223K probably damaging Het
Lta4h T C 10: 93,474,490 F407L probably damaging Het
Mndal C T 1: 173,874,455 G94R probably damaging Het
Nrxn3 A G 12: 89,976,407 N101S probably damaging Het
Olfr295 T C 7: 86,585,497 V74A possibly damaging Het
Olfr609 A T 7: 103,491,999 I293K probably damaging Het
Olfr912 C T 9: 38,581,513 P79S probably damaging Het
Olfr912 A G 9: 38,581,433 N52S probably damaging Het
Olfr930 A G 9: 38,931,052 N294D probably damaging Het
Pknox1 T G 17: 31,590,709 F96V probably benign Het
Psg25 T G 7: 18,526,424 Q183P probably damaging Het
Ptgs2 A G 1: 150,105,556 Y530C probably damaging Het
Sema3e T A 5: 14,224,390 D218E probably damaging Het
Shank1 G A 7: 44,312,842 G46R unknown Het
Sidt1 T C 16: 44,254,980 I672V probably benign Het
Slco1b2 T A 6: 141,672,281 S486T probably damaging Het
Smchd1 T C 17: 71,443,903 H340R probably benign Het
Smoc2 C A 17: 14,375,527 probably benign Het
Snapc1 A G 12: 73,968,027 Y102C probably damaging Het
Spo11 A G 2: 172,979,951 R20G probably damaging Het
Tlr1 A T 5: 64,925,947 L429* probably null Het
Tmem229b-ps T C 10: 53,475,370 noncoding transcript Het
Trim12c T A 7: 104,344,956 E230D possibly damaging Het
Ttc17 G T 2: 94,342,661 N796K probably benign Het
Ttc37 A G 13: 76,127,047 T238A possibly damaging Het
Ttn A G 2: 76,879,099 probably benign Het
Ublcp1 A T 11: 44,458,328 probably benign Het
Usf3 C T 16: 44,200,663 T11M probably benign Het
Vmn2r115 T A 17: 23,345,139 M95K probably benign Het
Wapl A G 14: 34,744,863 T1160A probably damaging Het
Other mutations in Aplp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02067:Aplp2 APN 9 31150895 missense probably damaging 1.00
IGL02152:Aplp2 APN 9 31211651 missense unknown
IGL02407:Aplp2 APN 9 31158527 nonsense probably null
IGL02623:Aplp2 APN 9 31178083 splice site probably benign
IGL02737:Aplp2 APN 9 31153416 missense probably benign
IGL02958:Aplp2 APN 9 31164676 splice site probably benign
R0211:Aplp2 UTSW 9 31157790 missense probably damaging 0.99
R0279:Aplp2 UTSW 9 31157790 missense probably damaging 0.99
R1669:Aplp2 UTSW 9 31167733 intron probably benign
R1707:Aplp2 UTSW 9 31150919 missense probably damaging 1.00
R1755:Aplp2 UTSW 9 31177104 missense probably damaging 1.00
R2512:Aplp2 UTSW 9 31167677 missense probably damaging 1.00
R2842:Aplp2 UTSW 9 31157826 missense probably benign 0.12
R4031:Aplp2 UTSW 9 31157730 missense probably benign 0.00
R4115:Aplp2 UTSW 9 31157826 missense probably benign 0.12
R5725:Aplp2 UTSW 9 31157814 missense probably damaging 1.00
R6032:Aplp2 UTSW 9 31150944 missense probably damaging 1.00
R6032:Aplp2 UTSW 9 31150944 missense probably damaging 1.00
R6375:Aplp2 UTSW 9 31157788 missense probably benign 0.00
R7170:Aplp2 UTSW 9 31170443 missense probably benign 0.03
R7541:Aplp2 UTSW 9 31152356 missense possibly damaging 0.82
Posted On2015-04-16