Incidental Mutation 'R7183:Apba2'
ID 559110
Institutional Source Beutler Lab
Gene Symbol Apba2
Ensembl Gene ENSMUSG00000030519
Gene Name amyloid beta (A4) precursor protein-binding, family A, member 2
Synonyms X11L, X11-like, Mint 2
MMRRC Submission 045235-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.136) question?
Stock # R7183 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 64501706-64753878 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 64733545 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 369 (D369N)
Ref Sequence ENSEMBL: ENSMUSP00000032732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032732] [ENSMUST00000206246]
AlphaFold P98084
Predicted Effect probably benign
Transcript: ENSMUST00000032732
AA Change: D369N

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000032732
Gene: ENSMUSG00000030519
AA Change: D369N

DomainStartEndE-ValueType
low complexity region 82 96 N/A INTRINSIC
low complexity region 216 230 N/A INTRINSIC
PTB 368 534 6.31e-29 SMART
PDZ 578 656 6.32e-12 SMART
PDZ 670 736 1.79e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000206246
AA Change: D369N

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (65/65)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene show a selective deficit in motivated approach behavior, but not in motivated avoidance behavior. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik G A 1: 26,682,833 (GRCm38) L1089F probably benign Het
Actn1 T A 12: 80,168,932 (GRCm38) M816L possibly damaging Het
Ahnak T C 19: 9,017,668 (GRCm38) F5439L probably damaging Het
Arhgap32 A G 9: 32,186,383 (GRCm38) N228D probably benign Het
Arhgap33 T A 7: 30,525,871 (GRCm38) probably null Het
Cacna1g C T 11: 94,439,737 (GRCm38) C984Y probably benign Het
Cadm2 C A 16: 66,882,832 (GRCm38) G47* probably null Het
Ccdc125 A G 13: 100,690,358 (GRCm38) D241G possibly damaging Het
Ccdc39 T G 3: 33,814,471 (GRCm38) E822A probably damaging Het
Cd86 CA CAA 16: 36,606,555 (GRCm38) probably null Het
Cdc42bpg A G 19: 6,310,797 (GRCm38) D195G probably damaging Het
Cdkl1 T C 12: 69,748,932 (GRCm38) R275G probably damaging Het
Chst4 T C 8: 110,029,998 (GRCm38) N411S possibly damaging Het
Cir1 A G 2: 73,286,386 (GRCm38) V210A probably damaging Het
Col6a1 A G 10: 76,716,259 (GRCm38) probably null Het
Crmp1 C A 5: 37,288,817 (GRCm38) H606N probably benign Het
Cyp2j8 A T 4: 96,479,181 (GRCm38) N233K probably damaging Het
Dennd1b A T 1: 139,170,252 (GRCm38) Q677L unknown Het
Dnah17 G A 11: 118,129,188 (GRCm38) T11I probably benign Het
Ehd1 A G 19: 6,297,654 (GRCm38) H346R probably benign Het
Emc3 G T 6: 113,531,384 (GRCm38) Y33* probably null Het
Ercc5 A T 1: 44,161,808 (GRCm38) probably null Het
Ercc5 G T 1: 44,161,809 (GRCm38) probably null Het
Fat3 A C 9: 15,922,837 (GRCm38) I4153S possibly damaging Het
Fn3krp T C 11: 121,421,605 (GRCm38) probably null Het
Gm2035 G A 12: 87,919,722 (GRCm38) R46W possibly damaging Het
Gmnc C T 16: 26,960,529 (GRCm38) D249N probably benign Het
Gsn C T 2: 35,294,948 (GRCm38) A305V probably benign Het
Haus6 A T 4: 86,583,752 (GRCm38) H627Q possibly damaging Het
Heg1 A G 16: 33,738,550 (GRCm38) probably null Het
Hoxd9 G T 2: 74,698,365 (GRCm38) V104L possibly damaging Het
Igkv10-96 A C 6: 68,632,216 (GRCm38) S32A probably benign Het
Kcnd2 G A 6: 21,216,437 (GRCm38) V47M probably damaging Het
Mab21l3 C T 3: 101,815,153 (GRCm38) V386M probably damaging Het
Masp2 A G 4: 148,612,157 (GRCm38) S404G probably benign Het
Olfr1024 T A 2: 85,904,142 (GRCm38) Q304L probably benign Het
Olfr1454 A G 19: 13,064,316 (GRCm38) I302V probably benign Het
Olfr835 G T 9: 19,035,332 (GRCm38) D70Y probably damaging Het
P4htm A T 9: 108,581,860 (GRCm38) M291K possibly damaging Het
Pde6c T C 19: 38,133,090 (GRCm38) S49P probably benign Het
Pdzd7 A G 19: 45,037,114 (GRCm38) V314A probably benign Het
Pfkl G A 10: 78,002,082 (GRCm38) R31* probably null Het
Phlpp2 C A 8: 109,939,953 (GRCm38) P1038Q probably damaging Het
Pik3c2b T C 1: 133,066,465 (GRCm38) S56P probably benign Het
Plec A G 15: 76,205,705 (GRCm38) V145A unknown Het
Prg3 G A 2: 84,991,504 (GRCm38) V158I probably benign Het
Prg3 G T 2: 84,993,023 (GRCm38) D181Y probably damaging Het
Rbp3 A G 14: 33,955,204 (GRCm38) T370A probably benign Het
Rgl2 T C 17: 33,934,990 (GRCm38) F457L possibly damaging Het
Rubcnl T A 14: 75,049,626 (GRCm38) M578K probably damaging Het
Siae G A 9: 37,616,946 (GRCm38) V72M possibly damaging Het
Smchd1 A T 17: 71,353,516 (GRCm38) D1864E probably benign Het
Smox T C 2: 131,520,566 (GRCm38) I255T possibly damaging Het
Tas2r123 A G 6: 132,847,698 (GRCm38) N186S possibly damaging Het
Thbs2 T A 17: 14,690,116 (GRCm38) I74F possibly damaging Het
Timm44 T C 8: 4,267,311 (GRCm38) D238G probably damaging Het
Tlk2 T C 11: 105,221,359 (GRCm38) probably null Het
Tnc A G 4: 64,013,128 (GRCm38) S782P probably damaging Het
Tpr A T 1: 150,406,551 (GRCm38) K336N probably damaging Het
Uggt2 A T 14: 119,019,637 (GRCm38) probably null Het
Vmn2r101 T A 17: 19,612,178 (GRCm38) I812N probably damaging Het
Vps33a T C 5: 123,535,215 (GRCm38) Q436R probably null Het
Ywhaq T C 12: 21,416,869 (GRCm38) K75E possibly damaging Het
Zfp87 A G 13: 67,517,474 (GRCm38) S290P probably damaging Het
Other mutations in Apba2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Apba2 APN 7 64,736,941 (GRCm38) missense possibly damaging 0.79
IGL01716:Apba2 APN 7 64,745,826 (GRCm38) splice site probably benign
IGL02218:Apba2 APN 7 64,695,677 (GRCm38) missense probably benign 0.01
IGL02343:Apba2 APN 7 64,695,146 (GRCm38) missense probably damaging 0.96
IGL03265:Apba2 APN 7 64,695,323 (GRCm38) missense probably damaging 1.00
guadalupe UTSW 7 64,750,164 (GRCm38) missense probably damaging 1.00
LCD18:Apba2 UTSW 7 64,622,160 (GRCm38) intron probably benign
R0395:Apba2 UTSW 7 64,743,408 (GRCm38) missense probably benign 0.00
R0554:Apba2 UTSW 7 64,745,780 (GRCm38) missense probably damaging 1.00
R0624:Apba2 UTSW 7 64,714,515 (GRCm38) splice site probably null
R0733:Apba2 UTSW 7 64,750,164 (GRCm38) missense probably damaging 1.00
R1107:Apba2 UTSW 7 64,745,719 (GRCm38) missense possibly damaging 0.51
R1464:Apba2 UTSW 7 64,695,549 (GRCm38) missense probably benign
R1464:Apba2 UTSW 7 64,695,549 (GRCm38) missense probably benign
R1486:Apba2 UTSW 7 64,736,948 (GRCm38) missense probably damaging 1.00
R1895:Apba2 UTSW 7 64,744,630 (GRCm38) critical splice donor site probably null
R1942:Apba2 UTSW 7 64,695,470 (GRCm38) missense possibly damaging 0.92
R1946:Apba2 UTSW 7 64,744,630 (GRCm38) critical splice donor site probably null
R2002:Apba2 UTSW 7 64,733,542 (GRCm38) missense probably damaging 0.97
R2089:Apba2 UTSW 7 64,695,593 (GRCm38) missense probably benign 0.02
R2091:Apba2 UTSW 7 64,695,593 (GRCm38) missense probably benign 0.02
R2091:Apba2 UTSW 7 64,695,593 (GRCm38) missense probably benign 0.02
R2571:Apba2 UTSW 7 64,745,750 (GRCm38) missense probably damaging 0.98
R3035:Apba2 UTSW 7 64,739,792 (GRCm38) missense probably benign 0.03
R4620:Apba2 UTSW 7 64,714,467 (GRCm38) missense probably damaging 1.00
R5468:Apba2 UTSW 7 64,745,762 (GRCm38) missense probably damaging 1.00
R5478:Apba2 UTSW 7 64,695,186 (GRCm38) nonsense probably null
R5644:Apba2 UTSW 7 64,715,511 (GRCm38) missense probably benign
R5645:Apba2 UTSW 7 64,695,806 (GRCm38) missense possibly damaging 0.92
R5941:Apba2 UTSW 7 64,745,716 (GRCm38) missense probably benign 0.03
R5969:Apba2 UTSW 7 64,744,447 (GRCm38) nonsense probably null
R6190:Apba2 UTSW 7 64,739,880 (GRCm38) missense probably damaging 0.98
R6806:Apba2 UTSW 7 64,695,459 (GRCm38) missense probably damaging 1.00
R7098:Apba2 UTSW 7 64,736,948 (GRCm38) missense probably damaging 1.00
R7143:Apba2 UTSW 7 64,744,417 (GRCm38) missense probably damaging 1.00
R7260:Apba2 UTSW 7 64,739,745 (GRCm38) missense probably damaging 1.00
R7479:Apba2 UTSW 7 64,739,859 (GRCm38) missense possibly damaging 0.63
R7677:Apba2 UTSW 7 64,695,097 (GRCm38) missense probably benign 0.02
R7959:Apba2 UTSW 7 64,695,823 (GRCm38) missense probably benign
R8325:Apba2 UTSW 7 64,695,982 (GRCm38) missense probably benign 0.02
R8376:Apba2 UTSW 7 64,695,593 (GRCm38) missense probably benign 0.02
R8411:Apba2 UTSW 7 64,736,926 (GRCm38) missense probably damaging 0.99
R8412:Apba2 UTSW 7 64,745,798 (GRCm38) missense probably damaging 1.00
R8857:Apba2 UTSW 7 64,750,191 (GRCm38) missense possibly damaging 0.76
R9040:Apba2 UTSW 7 64,743,324 (GRCm38) missense possibly damaging 0.82
R9265:Apba2 UTSW 7 64,743,272 (GRCm38) missense probably damaging 0.99
R9356:Apba2 UTSW 7 64,695,673 (GRCm38) missense probably damaging 1.00
R9569:Apba2 UTSW 7 64,743,390 (GRCm38) missense possibly damaging 0.64
R9667:Apba2 UTSW 7 64,695,314 (GRCm38) missense possibly damaging 0.67
Z1177:Apba2 UTSW 7 64,750,235 (GRCm38) missense probably benign 0.41
Predicted Primers PCR Primer
(F):5'- CCCCATTTCTGCAGAGTGATC -3'
(R):5'- ATTTCAGAGCTCCCTCCAGG -3'

Sequencing Primer
(F):5'- CTGCAGAGTGATCTAGCCATG -3'
(R):5'- CCTGCATCATTCGGATGT -3'
Posted On 2019-06-26