Incidental Mutation 'R2217:Apba1'
ID 241240
Institutional Source Beutler Lab
Gene Symbol Apba1
Ensembl Gene ENSMUSG00000024897
Gene Name amyloid beta precursor protein binding family A member 1
Synonyms Lin-10, Mint1, X11, X11alpha, 6430513E09Rik, Mint
MMRRC Submission 040219-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2217 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 23736251-23926960 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 23871326 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 386 (M386T)
Ref Sequence ENSEMBL: ENSMUSP00000025830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025830]
AlphaFold B2RUJ5
Predicted Effect probably damaging
Transcript: ENSMUST00000025830
AA Change: M386T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000025830
Gene: ENSMUSG00000024897
AA Change: M386T

DomainStartEndE-ValueType
low complexity region 40 47 N/A INTRINSIC
low complexity region 59 74 N/A INTRINSIC
low complexity region 129 149 N/A INTRINSIC
low complexity region 404 421 N/A INTRINSIC
PTB 461 626 9.49e-33 SMART
PDZ 670 748 3.09e-15 SMART
PDZ 762 828 2.53e-11 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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. [provided by RefSeq, Jul 2008]
PHENOTYPE: Animals carrying a homozygous mutation of this gene have reduced body size. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat1 T C 8: 112,709,128 (GRCm39) K232E probably benign Het
Appl2 G T 10: 83,444,601 (GRCm39) F472L possibly damaging Het
Atxn2 T C 5: 121,941,140 (GRCm39) Y56H probably damaging Het
Cacna1c T C 6: 118,647,368 (GRCm39) Y809C probably damaging Het
Canx C T 11: 50,201,694 (GRCm39) V59I probably benign Het
Catsperb T C 12: 101,560,478 (GRCm39) L823P probably damaging Het
Crb3 T C 17: 57,372,090 (GRCm39) S46P probably benign Het
Daam1 G A 12: 72,036,601 (GRCm39) R1058H probably damaging Het
Ehd1 T A 19: 6,348,502 (GRCm39) D493E probably damaging Het
Eml6 T A 11: 29,768,907 (GRCm39) Q746L probably damaging Het
Epg5 T A 18: 77,992,287 (GRCm39) M328K probably benign Het
Flt4 T A 11: 49,515,555 (GRCm39) S48T probably benign Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Gm7535 A G 17: 18,131,936 (GRCm39) probably benign Het
Gpat4 G A 8: 23,670,171 (GRCm39) P286L probably damaging Het
Hmcn2 A T 2: 31,240,586 (GRCm39) T494S probably benign Het
Hydin G A 8: 111,145,138 (GRCm39) V830I probably benign Het
Map3k6 T A 4: 132,973,983 (GRCm39) H487Q possibly damaging Het
Myh14 G A 7: 44,283,800 (GRCm39) P735S probably damaging Het
Nfkb2 T C 19: 46,296,163 (GRCm39) probably null Het
Nlrp4c T C 7: 6,076,113 (GRCm39) V671A probably benign Het
Nsrp1 A T 11: 76,936,587 (GRCm39) Y536* probably null Het
Or4c112 G T 2: 88,853,770 (GRCm39) H192Q probably benign Het
Pak5 A G 2: 135,958,123 (GRCm39) S322P probably damaging Het
Pank2 A G 2: 131,124,601 (GRCm39) probably null Het
Phf6 A T X: 52,031,525 (GRCm39) I272F probably damaging Het
Plxna2 T C 1: 194,480,056 (GRCm39) L1409P probably damaging Het
Polr2a A G 11: 69,633,511 (GRCm39) probably null Het
Pp2d1 C A 17: 53,822,482 (GRCm39) V195L probably benign Het
Psma1 C T 7: 113,864,173 (GRCm39) E227K unknown Het
Ptger1 C T 8: 84,395,357 (GRCm39) T278I probably benign Het
Slc20a2 C A 8: 23,050,532 (GRCm39) S250R probably benign Het
Slc27a2 A G 2: 126,409,672 (GRCm39) T285A probably damaging Het
Slc47a2 T C 11: 61,204,497 (GRCm39) T285A probably benign Het
Slf1 T A 13: 77,194,825 (GRCm39) probably null Het
Tiam2 A G 17: 3,465,389 (GRCm39) T373A probably benign Het
Timd2 T A 11: 46,577,844 (GRCm39) I96L probably damaging Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Tmem64 T C 4: 15,266,658 (GRCm39) I236T possibly damaging Het
Trpm2 T A 10: 77,777,016 (GRCm39) D427V probably damaging Het
Vax2 A T 6: 83,714,871 (GRCm39) Y262F probably damaging Het
Virma T C 4: 11,544,924 (GRCm39) S1628P probably damaging Het
Zan C A 5: 137,408,568 (GRCm39) probably benign Het
Zbtb22 T G 17: 34,136,939 (GRCm39) D361E probably damaging Het
Zfp27 A G 7: 29,595,536 (GRCm39) L143P possibly damaging Het
Other mutations in Apba1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01475:Apba1 APN 19 23,894,950 (GRCm39) missense possibly damaging 0.95
IGL01991:Apba1 APN 19 23,914,836 (GRCm39) missense possibly damaging 0.80
IGL02048:Apba1 APN 19 23,915,000 (GRCm39) splice site probably null
IGL02522:Apba1 APN 19 23,889,809 (GRCm39) splice site probably benign
IGL02728:Apba1 APN 19 23,922,269 (GRCm39) missense possibly damaging 0.93
IGL02942:Apba1 APN 19 23,922,335 (GRCm39) missense possibly damaging 0.78
IGL03349:Apba1 APN 19 23,894,939 (GRCm39) missense probably benign 0.02
IGL03410:Apba1 APN 19 23,914,945 (GRCm39) missense possibly damaging 0.67
R0052:Apba1 UTSW 19 23,893,315 (GRCm39) missense possibly damaging 0.90
R0052:Apba1 UTSW 19 23,893,315 (GRCm39) missense possibly damaging 0.90
R0084:Apba1 UTSW 19 23,889,861 (GRCm39) missense possibly damaging 0.68
R0379:Apba1 UTSW 19 23,912,194 (GRCm39) missense probably damaging 1.00
R0423:Apba1 UTSW 19 23,922,362 (GRCm39) missense probably damaging 1.00
R1132:Apba1 UTSW 19 23,894,917 (GRCm39) missense possibly damaging 0.83
R1291:Apba1 UTSW 19 23,895,036 (GRCm39) missense probably damaging 0.97
R1681:Apba1 UTSW 19 23,913,925 (GRCm39) missense probably damaging 1.00
R1714:Apba1 UTSW 19 23,922,316 (GRCm39) missense possibly damaging 0.67
R1756:Apba1 UTSW 19 23,871,056 (GRCm39) missense possibly damaging 0.83
R1866:Apba1 UTSW 19 23,870,195 (GRCm39) missense probably benign 0.22
R2076:Apba1 UTSW 19 23,870,587 (GRCm39) nonsense probably null
R3907:Apba1 UTSW 19 23,914,870 (GRCm39) missense probably damaging 0.96
R4095:Apba1 UTSW 19 23,921,388 (GRCm39) missense probably benign 0.00
R4529:Apba1 UTSW 19 23,913,899 (GRCm39) missense probably damaging 1.00
R4557:Apba1 UTSW 19 23,894,956 (GRCm39) missense probably damaging 1.00
R4972:Apba1 UTSW 19 23,889,900 (GRCm39) missense probably benign 0.24
R5521:Apba1 UTSW 19 23,870,957 (GRCm39) missense probably damaging 1.00
R6539:Apba1 UTSW 19 23,913,924 (GRCm39) missense probably damaging 1.00
R7032:Apba1 UTSW 19 23,889,825 (GRCm39) missense probably benign 0.20
R7035:Apba1 UTSW 19 23,894,931 (GRCm39) missense possibly damaging 0.88
R7495:Apba1 UTSW 19 23,913,963 (GRCm39) critical splice donor site probably null
R9149:Apba1 UTSW 19 23,870,782 (GRCm39) missense probably damaging 1.00
R9288:Apba1 UTSW 19 23,923,145 (GRCm39) makesense probably null
Z1176:Apba1 UTSW 19 23,921,479 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGAGCATGAGTTCGCAGAGC -3'
(R):5'- TGGATGAAACTACCACGGGG -3'

Sequencing Primer
(F):5'- ATGAGTTCGCAGAGCCTCGAC -3'
(R):5'- AACTACCACGGGGAGGTGC -3'
Posted On 2014-10-15