Incidental Mutation 'R6190:Apba2'
ID 502473
Institutional Source Beutler Lab
Gene Symbol Apba2
Ensembl Gene ENSMUSG00000030519
Gene Name amyloid beta precursor protein binding family A member 2
Synonyms X11L, Mint 2, X11-like
MMRRC Submission 044330-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R6190 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 64151454-64403626 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 64389628 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 508 (E508V)
Ref Sequence ENSEMBL: ENSMUSP00000032732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032732] [ENSMUST00000206246]
AlphaFold P98084
Predicted Effect probably damaging
Transcript: ENSMUST00000032732
AA Change: E508V

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000032732
Gene: ENSMUSG00000030519
AA Change: E508V

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 noncoding transcript
Transcript: ENSMUST00000205551
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206061
Predicted Effect possibly damaging
Transcript: ENSMUST00000206246
AA Change: E496V

PolyPhen 2 Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000206630
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat T A 16: 8,423,472 (GRCm39) L224Q probably damaging Het
Abcc5 A G 16: 20,211,529 (GRCm39) M478T probably benign Het
Acot10 T C 15: 20,665,871 (GRCm39) D290G possibly damaging Het
Actr3b A G 5: 26,036,688 (GRCm39) Q167R probably benign Het
Actr8 C T 14: 29,713,674 (GRCm39) R565* probably null Het
Adcy7 C T 8: 89,052,358 (GRCm39) probably null Het
Adgrb3 C T 1: 25,459,728 (GRCm39) V576I probably benign Het
Adgrv1 T A 13: 81,607,882 (GRCm39) probably null Het
Adgrv1 A T 13: 81,672,898 (GRCm39) probably null Het
Ak2 A G 4: 128,892,976 (GRCm39) D45G probably damaging Het
Ak9 C G 10: 41,298,403 (GRCm39) Q1489E unknown Het
Ak9 A T 10: 41,298,404 (GRCm39) Q1489L unknown Het
Akap12 C A 10: 4,306,268 (GRCm39) S1026Y possibly damaging Het
Ankhd1 T G 18: 36,744,862 (GRCm39) S601A possibly damaging Het
Arhgap18 A G 10: 26,722,031 (GRCm39) M1V probably null Het
Arhgef10l G A 4: 140,270,073 (GRCm39) T865M possibly damaging Het
Bdh1 T A 16: 31,268,715 (GRCm39) V150D probably damaging Het
Becn1 A G 11: 101,186,200 (GRCm39) C135R probably damaging Het
C2cd4d A G 3: 94,271,226 (GRCm39) D164G probably benign Het
Cacna1e C A 1: 154,362,316 (GRCm39) V424F possibly damaging Het
Capn7 C A 14: 31,085,560 (GRCm39) T511K probably benign Het
Cdc5l G A 17: 45,718,943 (GRCm39) P558S probably benign Het
Cep170 T A 1: 176,609,975 (GRCm39) H112L probably damaging Het
Cfap61 C T 2: 145,789,053 (GRCm39) T19M probably benign Het
Clca3a1 A G 3: 144,463,821 (GRCm39) V152A probably benign Het
Cnot10 G T 9: 114,461,791 (GRCm39) T24K probably damaging Het
Cntnap5b T A 1: 100,306,800 (GRCm39) I839N possibly damaging Het
Cyp4f13 A T 17: 33,148,847 (GRCm39) D299E probably damaging Het
Dclk1 A G 3: 55,395,232 (GRCm39) E128G probably damaging Het
Dennd1b T C 1: 139,061,413 (GRCm39) I365T probably damaging Het
Dgcr8 T C 16: 18,102,274 (GRCm39) T3A probably damaging Het
Dld A C 12: 31,394,847 (GRCm39) I58S probably damaging Het
Dlg5 T A 14: 24,240,506 (GRCm39) R248S probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Faf1 C T 4: 109,719,012 (GRCm39) L373F probably damaging Het
Fam171b C T 2: 83,707,042 (GRCm39) T304I probably benign Het
Fcgrt A T 7: 44,751,622 (GRCm39) probably null Het
Gimap9 T C 6: 48,655,285 (GRCm39) W291R probably damaging Het
Gm4847 G A 1: 166,457,892 (GRCm39) A487V probably damaging Het
Gria4 T A 9: 4,420,199 (GRCm39) I888F probably benign Het
Hapln2 T A 3: 87,930,600 (GRCm39) I224F probably damaging Het
Herc1 T G 9: 66,283,663 (GRCm39) L332R possibly damaging Het
Hmgxb4 T C 8: 75,749,927 (GRCm39) V481A probably benign Het
Htr1d T C 4: 136,170,109 (GRCm39) S113P probably damaging Het
Ift81 T C 5: 122,689,163 (GRCm39) Q651R probably benign Het
Il17ra T C 6: 120,452,234 (GRCm39) S199P probably damaging Het
Itih2 T C 2: 10,103,318 (GRCm39) N723S probably benign Het
Jak1 A T 4: 101,032,325 (GRCm39) V427E probably damaging Het
Krt23 C T 11: 99,376,584 (GRCm39) D191N probably damaging Het
Lingo1 T A 9: 56,526,934 (GRCm39) I552F possibly damaging Het
Llgl2 G A 11: 115,737,812 (GRCm39) R199Q probably benign Het
Lrrc37a G T 11: 103,392,042 (GRCm39) Q1128K possibly damaging Het
Lrrc74a T C 12: 86,783,263 (GRCm39) V36A probably benign Het
M1ap T A 6: 82,980,877 (GRCm39) D254E possibly damaging Het
Mal2 C T 15: 54,434,794 (GRCm39) probably benign Het
Mbnl2 A G 14: 120,622,833 (GRCm39) T124A probably benign Het
Nfatc1 A G 18: 80,755,885 (GRCm39) S33P probably benign Het
Nfkbid A G 7: 30,125,162 (GRCm39) N253S probably damaging Het
Ngfr T A 11: 95,465,267 (GRCm39) I194F probably benign Het
Nhsl1 A G 10: 18,345,789 (GRCm39) probably benign Het
Nol9 T A 4: 152,125,691 (GRCm39) I214N possibly damaging Het
Or1o3 A G 17: 37,573,635 (GRCm39) S307P probably benign Het
Or5p56 T C 7: 107,590,307 (GRCm39) L245P probably damaging Het
Or8k3 T A 2: 86,058,578 (GRCm39) T246S possibly damaging Het
Pax3 C T 1: 78,169,186 (GRCm39) S160N possibly damaging Het
Pde3b A G 7: 114,122,267 (GRCm39) probably null Het
Pde5a A C 3: 122,522,956 (GRCm39) E21A probably benign Het
Plcxd1 A G 5: 110,250,469 (GRCm39) E270G probably damaging Het
Plxna1 T A 6: 89,333,586 (GRCm39) K348* probably null Het
Pramel34 A T 5: 93,785,937 (GRCm39) N114K probably benign Het
Prb1b T A 6: 132,289,692 (GRCm39) H44L unknown Het
Psg21 G T 7: 18,388,926 (GRCm39) D55E possibly damaging Het
Rasa1 C A 13: 85,381,814 (GRCm39) A493S probably benign Het
Raver2 A G 4: 100,990,814 (GRCm39) I396V probably benign Het
Rpa2 A G 4: 132,502,331 (GRCm39) K138E probably benign Het
Rsad1 T C 11: 94,439,062 (GRCm39) N133D probably damaging Het
Rusc1 T C 3: 88,999,188 (GRCm39) D198G probably benign Het
Samsn1 A T 16: 75,667,803 (GRCm39) Y258N probably damaging Het
Scap A G 9: 110,203,135 (GRCm39) N270D probably benign Het
Shisal2a A T 4: 108,225,052 (GRCm39) I170N probably damaging Het
Smpd4 T C 16: 17,449,877 (GRCm39) Y200H probably damaging Het
Steap2 A G 5: 5,725,881 (GRCm39) V381A probably damaging Het
Syk C T 13: 52,765,089 (GRCm39) T72I probably damaging Het
Tbc1d14 T C 5: 36,729,228 (GRCm39) D66G possibly damaging Het
Tcp11 A G 17: 28,290,691 (GRCm39) Y223H probably benign Het
Timm9 A G 12: 71,173,124 (GRCm39) S8P probably benign Het
Tmpo T C 10: 91,000,069 (GRCm39) probably null Het
Vezf1 T C 11: 87,967,012 (GRCm39) M81T probably benign Het
Vipr1 T A 9: 121,493,719 (GRCm39) W257R probably damaging Het
Vmn1r237 G A 17: 21,534,556 (GRCm39) G93D probably damaging Het
Vmn2r6 A G 3: 64,445,424 (GRCm39) V678A probably benign Het
Vmn2r85 T C 10: 130,261,330 (GRCm39) T336A possibly damaging Het
Xpnpep3 C A 15: 81,322,300 (GRCm39) D296E probably benign Het
Zfp35 C A 18: 24,137,118 (GRCm39) H487Q probably benign Het
Zfp606 A T 7: 12,227,928 (GRCm39) Y625F probably damaging Het
Zfp677 A G 17: 21,617,530 (GRCm39) T196A possibly damaging Het
Zmym1 T C 4: 126,941,677 (GRCm39) I904V probably damaging Het
Other mutations in Apba2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Apba2 APN 7 64,386,689 (GRCm39) missense possibly damaging 0.79
IGL01716:Apba2 APN 7 64,395,574 (GRCm39) splice site probably benign
IGL02218:Apba2 APN 7 64,345,425 (GRCm39) missense probably benign 0.01
IGL02343:Apba2 APN 7 64,344,894 (GRCm39) missense probably damaging 0.96
IGL03265:Apba2 APN 7 64,345,071 (GRCm39) missense probably damaging 1.00
guadalupe UTSW 7 64,399,912 (GRCm39) missense probably damaging 1.00
LCD18:Apba2 UTSW 7 64,271,908 (GRCm39) intron probably benign
R0395:Apba2 UTSW 7 64,393,156 (GRCm39) missense probably benign 0.00
R0554:Apba2 UTSW 7 64,395,528 (GRCm39) missense probably damaging 1.00
R0624:Apba2 UTSW 7 64,364,263 (GRCm39) splice site probably null
R0733:Apba2 UTSW 7 64,399,912 (GRCm39) missense probably damaging 1.00
R1107:Apba2 UTSW 7 64,395,467 (GRCm39) missense possibly damaging 0.51
R1464:Apba2 UTSW 7 64,345,297 (GRCm39) missense probably benign
R1464:Apba2 UTSW 7 64,345,297 (GRCm39) missense probably benign
R1486:Apba2 UTSW 7 64,386,696 (GRCm39) missense probably damaging 1.00
R1895:Apba2 UTSW 7 64,394,378 (GRCm39) critical splice donor site probably null
R1942:Apba2 UTSW 7 64,345,218 (GRCm39) missense possibly damaging 0.92
R1946:Apba2 UTSW 7 64,394,378 (GRCm39) critical splice donor site probably null
R2002:Apba2 UTSW 7 64,383,290 (GRCm39) missense probably damaging 0.97
R2089:Apba2 UTSW 7 64,345,341 (GRCm39) missense probably benign 0.02
R2091:Apba2 UTSW 7 64,345,341 (GRCm39) missense probably benign 0.02
R2091:Apba2 UTSW 7 64,345,341 (GRCm39) missense probably benign 0.02
R2571:Apba2 UTSW 7 64,395,498 (GRCm39) missense probably damaging 0.98
R3035:Apba2 UTSW 7 64,389,540 (GRCm39) missense probably benign 0.03
R4620:Apba2 UTSW 7 64,364,215 (GRCm39) missense probably damaging 1.00
R5468:Apba2 UTSW 7 64,395,510 (GRCm39) missense probably damaging 1.00
R5478:Apba2 UTSW 7 64,344,934 (GRCm39) nonsense probably null
R5644:Apba2 UTSW 7 64,365,259 (GRCm39) missense probably benign
R5645:Apba2 UTSW 7 64,345,554 (GRCm39) missense possibly damaging 0.92
R5941:Apba2 UTSW 7 64,395,464 (GRCm39) missense probably benign 0.03
R5969:Apba2 UTSW 7 64,394,195 (GRCm39) nonsense probably null
R6806:Apba2 UTSW 7 64,345,207 (GRCm39) missense probably damaging 1.00
R7098:Apba2 UTSW 7 64,386,696 (GRCm39) missense probably damaging 1.00
R7143:Apba2 UTSW 7 64,394,165 (GRCm39) missense probably damaging 1.00
R7183:Apba2 UTSW 7 64,383,293 (GRCm39) missense probably benign 0.11
R7260:Apba2 UTSW 7 64,389,493 (GRCm39) missense probably damaging 1.00
R7479:Apba2 UTSW 7 64,389,607 (GRCm39) missense possibly damaging 0.63
R7677:Apba2 UTSW 7 64,344,845 (GRCm39) missense probably benign 0.02
R7959:Apba2 UTSW 7 64,345,571 (GRCm39) missense probably benign
R8325:Apba2 UTSW 7 64,345,730 (GRCm39) missense probably benign 0.02
R8376:Apba2 UTSW 7 64,345,341 (GRCm39) missense probably benign 0.02
R8411:Apba2 UTSW 7 64,386,674 (GRCm39) missense probably damaging 0.99
R8412:Apba2 UTSW 7 64,395,546 (GRCm39) missense probably damaging 1.00
R8857:Apba2 UTSW 7 64,399,939 (GRCm39) missense possibly damaging 0.76
R9040:Apba2 UTSW 7 64,393,072 (GRCm39) missense possibly damaging 0.82
R9265:Apba2 UTSW 7 64,393,020 (GRCm39) missense probably damaging 0.99
R9356:Apba2 UTSW 7 64,345,421 (GRCm39) missense probably damaging 1.00
R9569:Apba2 UTSW 7 64,393,138 (GRCm39) missense possibly damaging 0.64
R9667:Apba2 UTSW 7 64,345,062 (GRCm39) missense possibly damaging 0.67
Z1177:Apba2 UTSW 7 64,399,983 (GRCm39) missense probably benign 0.41
Predicted Primers PCR Primer
(F):5'- AACCATGATGGACCATGCC -3'
(R):5'- ACGATTTCCTTGGTAAGACAGG -3'

Sequencing Primer
(F):5'- ATGATGGACCATGCCTTGCG -3'
(R):5'- TGCATCTAACAGCTCTGGAAG -3'
Posted On 2018-02-27