Incidental Mutation 'R3035:Apba2'
ID 264818
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 040551-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R3035 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 64151454-64403626 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 64389540 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 479 (S479P)
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: S479P

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000032732
Gene: ENSMUSG00000030519
AA Change: S479P

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: ENSMUST00000107507
AA Change: S467P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000103131
Gene: ENSMUSG00000030519
AA Change: S467P

DomainStartEndE-ValueType
low complexity region 82 96 N/A INTRINSIC
low complexity region 216 230 N/A INTRINSIC
PTB 368 522 8.46e-30 SMART
PDZ 566 644 6.32e-12 SMART
PDZ 658 724 1.79e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205551
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206061
Predicted Effect probably benign
Transcript: ENSMUST00000206246
AA Change: S467P

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect probably benign
Transcript: ENSMUST00000206630
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.4%
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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T A 2: 68,575,762 (GRCm39) V687D probably benign Het
Ahctf1 T A 1: 179,581,435 (GRCm39) Q1589L probably damaging Het
C1galt1 A G 6: 7,866,762 (GRCm39) K203E probably benign Het
Dennd5a A G 7: 109,520,559 (GRCm39) S433P probably benign Het
Dock9 A G 14: 121,844,249 (GRCm39) S1181P possibly damaging Het
Gsc2 A G 16: 17,732,792 (GRCm39) S26P probably damaging Het
Hcn4 T C 9: 58,730,963 (GRCm39) S57P unknown Het
Herc1 C A 9: 66,391,217 (GRCm39) Q4007K possibly damaging Het
Ighv1-54 C A 12: 115,157,597 (GRCm39) V17F probably damaging Het
Kctd12 T A 14: 103,218,942 (GRCm39) E312V possibly damaging Het
Kdf1 A G 4: 133,255,373 (GRCm39) N30S probably benign Het
Kif11 T A 19: 37,395,501 (GRCm39) S587T possibly damaging Het
Mbl1 C A 14: 40,880,790 (GRCm39) S226Y probably damaging Het
Mgam A G 6: 40,640,464 (GRCm39) I511V probably benign Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rap1gap2 C A 11: 74,298,148 (GRCm39) A491S possibly damaging Het
Serpinb9b T A 13: 33,213,529 (GRCm39) C29S possibly damaging Het
Slc12a5 C A 2: 164,822,178 (GRCm39) L343I probably benign Het
Topors C T 4: 40,269,673 (GRCm39) probably null 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
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
R6190:Apba2 UTSW 7 64,389,628 (GRCm39) missense probably damaging 0.98
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'- TGATTTTCTCAGCAAGGGCC -3'
(R):5'- TGCAAGTGTGGACTGAGAC -3'

Sequencing Primer
(F):5'- GCAAGGGCCACTTAATTAATGTCC -3'
(R):5'- TGGACTGAGACACTTGTTCC -3'
Posted On 2015-02-05