Incidental Mutation 'R5521:Apba1'
ID 484484
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 043080-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5521 (G1)
Quality Score 39
Status Validated
Chromosome 19
Chromosomal Location 23736251-23926960 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 23870957 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 263 (P263L)
Ref Sequence ENSEMBL: ENSMUSP00000025830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025830]
AlphaFold B2RUJ5
Predicted Effect probably damaging
Transcript: ENSMUST00000025830
AA Change: P263L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025830
Gene: ENSMUSG00000024897
AA Change: P263L

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
Meta Mutation Damage Score 0.0877 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 97.5%
  • 10x: 94.4%
  • 20x: 87.5%
Validation Efficiency 94% (72/77)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 A G 9: 44,190,980 (GRCm39) probably benign Het
Abhd14a G T 9: 106,321,033 (GRCm39) D107E probably damaging Het
Acat1 T A 9: 53,494,807 (GRCm39) K362* probably null Het
Adad2 T A 8: 120,339,528 (GRCm39) S3R probably benign Het
Adcy8 C A 15: 64,687,199 (GRCm39) R435M probably damaging Het
Adgrv1 A T 13: 81,567,508 (GRCm39) S5222T probably benign Het
Ankk1 A T 9: 49,331,748 (GRCm39) M182K probably benign Het
Arhgap39 G A 15: 76,649,694 (GRCm39) S26L possibly damaging Het
Ccng1 G A 11: 40,643,093 (GRCm39) T118I possibly damaging Het
Cenpe T C 3: 134,974,826 (GRCm39) S2329P probably damaging Het
Chil4 A G 3: 106,111,013 (GRCm39) Y294H possibly damaging Het
Chst8 A C 7: 34,374,670 (GRCm39) S390A probably benign Het
Dars1 T C 1: 128,301,710 (GRCm39) D308G probably benign Het
Dlec1 A C 9: 118,972,469 (GRCm39) Q1458P possibly damaging Het
Dvl2 G A 11: 69,897,233 (GRCm39) E312K probably damaging Het
Fchsd1 T C 18: 38,099,537 (GRCm39) H219R probably damaging Het
Foxd4 A C 19: 24,877,007 (GRCm39) C398G probably damaging Het
Gm10719 T A 9: 3,018,970 (GRCm39) F72I probably damaging Het
Gm5414 T C 15: 101,536,422 (GRCm39) I68V probably benign Het
Gmip C T 8: 70,270,049 (GRCm39) T684I probably damaging Het
Gpr137c T C 14: 45,516,151 (GRCm39) I295T possibly damaging Het
Hivep1 T A 13: 42,311,804 (GRCm39) M1348K probably damaging Het
Igkv6-23 T C 6: 70,237,597 (GRCm39) D48G probably benign Het
Il3 G A 11: 54,157,958 (GRCm39) T40M possibly damaging Het
Ing2 T C 8: 48,122,248 (GRCm39) E100G probably damaging Het
Itpr3 C A 17: 27,326,308 (GRCm39) H1359Q probably benign Het
Lama1 T A 17: 68,087,889 (GRCm39) Y1502* probably null Het
Mamdc2 C A 19: 23,288,302 (GRCm39) G579W probably damaging Het
Mapk6 G A 9: 75,300,598 (GRCm39) probably benign Het
Mapk8ip2 C T 15: 89,343,007 (GRCm39) R616W probably damaging Het
Mc5r T A 18: 68,472,748 (GRCm39) L369H possibly damaging Het
Meis1 T C 11: 18,938,260 (GRCm39) probably benign Het
Mmp8 A G 9: 7,560,644 (GRCm39) K107R probably benign Het
Mn1 C T 5: 111,569,635 (GRCm39) H1202Y possibly damaging Het
Naip2 A G 13: 100,291,422 (GRCm39) L1172P probably damaging Het
Nek9 C T 12: 85,374,219 (GRCm39) D273N probably benign Het
Nlrp4e A T 7: 23,021,190 (GRCm39) D559V probably benign Het
Nlrp4g T C 9: 124,350,020 (GRCm38) noncoding transcript Het
Oit3 G T 10: 59,271,736 (GRCm39) A207E probably benign Het
Or13j1 A T 4: 43,705,788 (GRCm39) M260K possibly damaging Het
Or14a257 A T 7: 86,137,839 (GRCm39) C307S probably benign Het
Or4d2b A T 11: 87,780,545 (GRCm39) M59K probably damaging Het
Or5w16 A G 2: 87,577,406 (GRCm39) I289V probably benign Het
Pde4c T C 8: 71,200,031 (GRCm39) probably null Het
Ppp1r26 A G 2: 28,341,438 (GRCm39) E356G probably benign Het
Pramel13 A G 4: 144,122,541 (GRCm39) M1T probably null Het
Ptges3-ps T A 6: 85,821,303 (GRCm39) noncoding transcript Het
Ptpn13 T G 5: 103,649,294 (GRCm39) F232L probably benign Het
Reps1 T C 10: 17,979,982 (GRCm39) S114P probably damaging Het
Scarf2 T A 16: 17,621,466 (GRCm39) probably null Het
Sdha A T 13: 74,498,218 (GRCm39) probably benign Het
Secisbp2l A T 2: 125,594,897 (GRCm39) V146D possibly damaging Het
Slc26a8 T A 17: 28,873,833 (GRCm39) T385S probably benign Het
Slc4a1 G A 11: 102,244,092 (GRCm39) T679M probably benign Het
Tbc1d14 T A 5: 36,677,896 (GRCm39) E353V probably damaging Het
Thap2 T A 10: 115,208,665 (GRCm39) K152* probably null Het
Thbd A T 2: 148,249,655 (GRCm39) I71N probably damaging Het
V1ra8 T A 6: 90,180,036 (GRCm39) W80R probably damaging Het
Vmn1r218 A G 13: 23,320,743 (GRCm39) Y30C probably benign Het
Vmn2r60 C A 7: 41,845,049 (GRCm39) T804K probably damaging Het
Vmn2r68 A T 7: 84,882,926 (GRCm39) D275E probably benign Het
Vps13c A G 9: 67,858,721 (GRCm39) I2724V probably benign Het
Xrcc5 C A 1: 72,385,430 (GRCm39) P507Q probably damaging Het
Zfp120 A T 2: 149,959,499 (GRCm39) Y274* probably null Het
Zfp780b C A 7: 27,674,173 (GRCm39) probably null 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
R2217:Apba1 UTSW 19 23,871,326 (GRCm39) missense probably damaging 0.99
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
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'- AGCACGTGTACGAGGAGATC -3'
(R):5'- TGATGTCCTTGATGGCCAGC -3'

Sequencing Primer
(F):5'- TCTACGAGCGCGAGCGCGA -3'
(R):5'- TCCTTGATGGCCAGCGAGATG -3'
Posted On 2017-07-21