Incidental Mutation 'IGL03108:Apbb2'
ID419086
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Apbb2
Ensembl Gene ENSMUSG00000029207
Gene Nameamyloid beta (A4) precursor protein-binding, family B, member 2
SynonymsTR2L, Rirl1, Zfra, 2310007D03Rik, FE65L1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03108
Quality Score
Status
Chromosome5
Chromosomal Location66298703-66618784 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 66400231 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 296 (W296R)
Ref Sequence ENSEMBL: ENSMUSP00000125116 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087256] [ENSMUST00000159512] [ENSMUST00000159786] [ENSMUST00000160063] [ENSMUST00000160870] [ENSMUST00000162349] [ENSMUST00000162366]
Predicted Effect probably damaging
Transcript: ENSMUST00000087256
AA Change: W296R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000084511
Gene: ENSMUSG00000029207
AA Change: W296R

DomainStartEndE-ValueType
WW 291 322 1.06e-7 SMART
PTB 414 560 3.15e-38 SMART
PTB 587 717 2.5e-41 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000159512
AA Change: W297R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124807
Gene: ENSMUSG00000029207
AA Change: W297R

DomainStartEndE-ValueType
WW 292 323 1.06e-7 SMART
PTB 394 538 2.87e-41 SMART
PTB 565 695 2.5e-41 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000159786
AA Change: W296R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125211
Gene: ENSMUSG00000029207
AA Change: W296R

DomainStartEndE-ValueType
WW 291 322 1.06e-7 SMART
PTB 414 560 4.29e-40 SMART
PTB 587 717 2.5e-41 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000160063
AA Change: W297R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123778
Gene: ENSMUSG00000029207
AA Change: W297R

DomainStartEndE-ValueType
WW 292 323 6.1e-10 SMART
PTB 415 510 1.3e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160185
Predicted Effect probably damaging
Transcript: ENSMUST00000160870
AA Change: W296R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123978
Gene: ENSMUSG00000029207
AA Change: W296R

DomainStartEndE-ValueType
WW 291 322 1.06e-7 SMART
PTB 393 537 2.87e-41 SMART
PTB 564 694 2.5e-41 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000162349
AA Change: W296R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123752
Gene: ENSMUSG00000029207
AA Change: W296R

DomainStartEndE-ValueType
WW 291 322 1.06e-7 SMART
PTB 414 558 2.87e-41 SMART
PTB 585 715 2.5e-41 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000162366
AA Change: W296R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125116
Gene: ENSMUSG00000029207
AA Change: W296R

DomainStartEndE-ValueType
WW 291 322 1.06e-7 SMART
PTB 393 537 2.87e-41 SMART
PTB 563 693 2.5e-41 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162401
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201776
Coding Region Coverage
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 interacts with the cytoplasmic domains of amyloid beta (A4) precursor protein and amyloid beta (A4) precursor-like protein 2. This protein contains two phosphotyrosine binding (PTB) domains, which are thought to function in signal transduction. Polymorphisms in this gene have been associated with Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile and display normal brain morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130011E15Rik G A 19: 45,820,353 T633I probably damaging Het
Adgrv1 C A 13: 81,559,529 V1253F probably damaging Het
Btbd3 T C 2: 138,284,123 V409A possibly damaging Het
C130050O18Rik A T 5: 139,415,065 D291V probably damaging Het
Catsper3 A G 13: 55,808,035 N318D probably benign Het
Chd1 T A 17: 15,725,281 D22E possibly damaging Het
Chrnb2 G A 3: 89,763,374 probably benign Het
Col24a1 G A 3: 145,323,401 G550D probably damaging Het
Cryl1 T C 14: 57,313,077 D110G probably damaging Het
Deaf1 A G 7: 141,322,961 I150T probably damaging Het
Eif3a A T 19: 60,782,309 D33E possibly damaging Het
Fabp12 C A 3: 10,250,054 G78C probably benign Het
Fat1 A G 8: 45,023,614 D1899G probably damaging Het
Galnt13 G A 2: 54,854,648 V120I probably benign Het
Ganab G A 19: 8,912,476 A635T probably damaging Het
Gm17509 G A 13: 117,220,844 probably benign Het
Gstm3 A T 3: 107,967,764 probably null Het
Hfm1 T A 5: 106,895,934 probably benign Het
Hoxd13 A C 2: 74,670,096 D327A probably damaging Het
Ints4 G T 7: 97,490,930 probably null Het
Kcna10 A T 3: 107,194,943 T297S probably benign Het
Ldb2 G A 5: 44,541,715 T127I probably damaging Het
Mapk7 T C 11: 61,491,672 D68G probably damaging Het
Msh3 A T 13: 92,221,088 probably benign Het
Muc6 A G 7: 141,637,489 S2359P possibly damaging Het
Mup6 A T 4: 60,005,990 I161F possibly damaging Het
Nup160 G A 2: 90,703,825 V665I probably benign Het
Olfr1507 T A 14: 52,490,076 D296V probably damaging Het
Olfr304 T C 7: 86,385,721 Y313C possibly damaging Het
Olfr535 A G 7: 140,493,121 N161S possibly damaging Het
Otog G A 7: 46,251,338 V352I probably damaging Het
Oxct1 T A 15: 4,035,282 V34D probably benign Het
Pcdhb21 T A 18: 37,515,891 probably null Het
Pcdhb8 T G 18: 37,357,246 V659G probably damaging Het
Plxnb2 T C 15: 89,158,031 N1590S probably benign Het
Rnf168 G T 16: 32,278,281 R56L possibly damaging Het
Scn8a C T 15: 100,974,615 P362S probably benign Het
Slc1a3 T A 15: 8,639,078 I468F probably damaging Het
Slc39a14 G A 14: 70,318,919 R3W probably damaging Het
Slc7a6 T A 8: 106,194,517 N373K probably damaging Het
Snrnp200 T C 2: 127,238,167 S1955P possibly damaging Het
Stat5a T A 11: 100,863,139 Y98* probably null Het
Thsd7b G T 1: 130,210,276 G1564C probably damaging Het
Zc3h13 T C 14: 75,331,766 V1351A possibly damaging Het
Other mutations in Apbb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00911:Apbb2 APN 5 66451512 missense probably damaging 1.00
IGL01615:Apbb2 APN 5 66307701 missense probably benign 0.06
IGL01945:Apbb2 APN 5 66400251 missense probably damaging 1.00
IGL03324:Apbb2 APN 5 66312157 critical splice donor site probably null
bund UTSW 5 66400255 missense probably damaging 1.00
Dionysis UTSW 5 66452250 missense probably damaging 0.99
R0266:Apbb2 UTSW 5 66302611 missense probably benign 0.32
R0309:Apbb2 UTSW 5 66310988 splice site probably benign
R0410:Apbb2 UTSW 5 66451806 missense possibly damaging 0.88
R0564:Apbb2 UTSW 5 66452250 missense probably damaging 0.99
R0882:Apbb2 UTSW 5 66400255 missense probably damaging 1.00
R1075:Apbb2 UTSW 5 66302678 missense probably damaging 1.00
R1822:Apbb2 UTSW 5 66400177 missense probably benign 0.00
R1929:Apbb2 UTSW 5 66307615 missense probably benign 0.33
R4157:Apbb2 UTSW 5 66302604 nonsense probably null
R4299:Apbb2 UTSW 5 66313378 missense probably damaging 1.00
R4627:Apbb2 UTSW 5 66400076 splice site probably null
R4780:Apbb2 UTSW 5 66362817 missense probably damaging 1.00
R4940:Apbb2 UTSW 5 66452261 missense probably null
R5002:Apbb2 UTSW 5 66313325 missense possibly damaging 0.87
R5102:Apbb2 UTSW 5 66312249 splice site probably null
R5760:Apbb2 UTSW 5 66362757 missense probably benign
R5868:Apbb2 UTSW 5 66452096 missense probably damaging 1.00
R6272:Apbb2 UTSW 5 66311072 missense probably damaging 0.97
R6280:Apbb2 UTSW 5 66364982 missense probably damaging 1.00
R6399:Apbb2 UTSW 5 66451467 critical splice donor site probably null
R7091:Apbb2 UTSW 5 66313334 missense probably damaging 1.00
R7204:Apbb2 UTSW 5 66451603 missense probably damaging 1.00
R8026:Apbb2 UTSW 5 66451644 missense probably benign 0.00
X0020:Apbb2 UTSW 5 66391799 missense probably damaging 1.00
Z1088:Apbb2 UTSW 5 66302696 missense probably damaging 1.00
Posted On2016-08-02