Incidental Mutation 'IGL01615:Apbb2'
ID 92370
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Apbb2
Ensembl Gene ENSMUSG00000029207
Gene Name amyloid beta precursor protein binding family B member 2
Synonyms Zfra, TR2L, 2310007D03Rik, Rirl1, FE65L1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01615
Quality Score
Status
Chromosome 5
Chromosomal Location 66456046-66776127 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 66465044 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 650 (V650A)
Ref Sequence ENSEMBL: ENSMUSP00000123752 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087256] [ENSMUST00000159512] [ENSMUST00000159786] [ENSMUST00000160063] [ENSMUST00000160870] [ENSMUST00000162349] [ENSMUST00000162366]
AlphaFold Q9DBR4
Predicted Effect probably benign
Transcript: ENSMUST00000087256
AA Change: V650A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000084511
Gene: ENSMUSG00000029207
AA Change: V650A

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 benign
Transcript: ENSMUST00000159512
AA Change: V628A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000124807
Gene: ENSMUSG00000029207
AA Change: V628A

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 benign
Transcript: ENSMUST00000159786
AA Change: V627A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000125211
Gene: ENSMUSG00000029207
AA Change: V627A

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 benign
Transcript: ENSMUST00000160063
SMART Domains Protein: ENSMUSP00000123778
Gene: ENSMUSG00000029207

DomainStartEndE-ValueType
WW 292 323 6.1e-10 SMART
PTB 415 510 1.3e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160775
Predicted Effect probably benign
Transcript: ENSMUST00000160870
AA Change: V648A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000123978
Gene: ENSMUSG00000029207
AA Change: V648A

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 benign
Transcript: ENSMUST00000162349
AA Change: V650A

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000123752
Gene: ENSMUSG00000029207
AA Change: V650A

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 benign
Transcript: ENSMUST00000162366
AA Change: V626A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000125116
Gene: ENSMUSG00000029207
AA Change: V626A

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: ENSMUST00000162955
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201776
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161771
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adnp2 T C 18: 80,171,692 (GRCm39) T906A probably damaging Het
Akap13 A G 7: 75,347,141 (GRCm39) S1731G probably damaging Het
Appl1 A G 14: 26,681,427 (GRCm39) probably benign Het
Avpr1b T G 1: 131,527,885 (GRCm39) V136G probably damaging Het
C6 T C 15: 4,811,378 (GRCm39) F409L probably benign Het
Ccdc121rt3 A G 5: 112,503,696 (GRCm39) S3P possibly damaging Het
Cdk20 A G 13: 64,584,124 (GRCm39) probably benign Het
Cenpf T C 1: 189,385,381 (GRCm39) K2300E possibly damaging Het
Cfap57 C T 4: 118,457,993 (GRCm39) R399Q probably damaging Het
Cimap3 G T 3: 105,904,523 (GRCm39) probably null Het
Cnnm1 A T 19: 43,460,375 (GRCm39) S706C probably benign Het
Cr1l T C 1: 194,812,189 (GRCm39) I45V possibly damaging Het
D130043K22Rik A T 13: 25,083,779 (GRCm39) R1081S probably damaging Het
Ddx60 A T 8: 62,416,774 (GRCm39) H573L probably null Het
Eif5b T C 1: 38,084,787 (GRCm39) L878S probably damaging Het
Ets1 T C 9: 32,644,235 (GRCm39) probably benign Het
Evi5 A G 5: 107,912,573 (GRCm39) L696P probably damaging Het
Fbh1 C A 2: 11,762,334 (GRCm39) E12* probably null Het
Gabpb1 C A 2: 126,495,520 (GRCm39) M77I possibly damaging Het
Glul T A 1: 153,782,222 (GRCm39) N152K probably benign Het
Gm45234 T C 6: 124,723,394 (GRCm39) Y613C probably damaging Het
Gm5611 A G 9: 16,941,647 (GRCm39) noncoding transcript Het
Gpr156 T A 16: 37,808,953 (GRCm39) I225K probably damaging Het
Herc4 T C 10: 63,126,461 (GRCm39) probably benign Het
Iqsec3 C T 6: 121,387,580 (GRCm39) V720M probably damaging Het
Itgam A T 7: 127,715,939 (GRCm39) H1104L possibly damaging Het
Itgb3 T A 11: 104,534,791 (GRCm39) D549E probably damaging Het
Kctd7 A T 5: 130,176,976 (GRCm39) M76L probably damaging Het
Kdm3b T G 18: 34,962,284 (GRCm39) N1523K probably damaging Het
Map3k12 T A 15: 102,412,186 (GRCm39) E318D probably damaging Het
Mc1r T C 8: 124,134,789 (GRCm39) Y181H probably damaging Het
Mex3c G A 18: 73,706,703 (GRCm39) A197T unknown Het
Mvk A G 5: 114,584,353 (GRCm39) D71G probably benign Het
Ndufb3 T A 1: 58,634,912 (GRCm39) L88* probably null Het
Or56a4 A G 7: 104,806,667 (GRCm39) V74A probably benign Het
Or5p55 A G 7: 107,567,144 (GRCm39) D180G probably damaging Het
Pramel17 T A 4: 101,694,201 (GRCm39) R227S possibly damaging Het
Psmg2 G A 18: 67,786,293 (GRCm39) V218I probably benign Het
Slc5a3 C T 16: 91,876,000 (GRCm39) Q686* probably null Het
Vmn2r75 T C 7: 85,797,681 (GRCm39) I711V probably benign Het
Vps13c T A 9: 67,863,063 (GRCm39) H3026Q probably benign Het
Zfp354c A G 11: 50,708,732 (GRCm39) S22P possibly damaging Het
Other mutations in Apbb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00911:Apbb2 APN 5 66,608,855 (GRCm39) missense probably damaging 1.00
IGL01945:Apbb2 APN 5 66,557,594 (GRCm39) missense probably damaging 1.00
IGL03108:Apbb2 APN 5 66,557,574 (GRCm39) missense probably damaging 1.00
IGL03324:Apbb2 APN 5 66,469,500 (GRCm39) critical splice donor site probably null
bund UTSW 5 66,557,598 (GRCm39) missense probably damaging 1.00
Dionysis UTSW 5 66,609,593 (GRCm39) missense probably damaging 0.99
R0266:Apbb2 UTSW 5 66,459,954 (GRCm39) missense probably benign 0.32
R0309:Apbb2 UTSW 5 66,468,331 (GRCm39) splice site probably benign
R0410:Apbb2 UTSW 5 66,609,149 (GRCm39) missense possibly damaging 0.88
R0564:Apbb2 UTSW 5 66,609,593 (GRCm39) missense probably damaging 0.99
R0882:Apbb2 UTSW 5 66,557,598 (GRCm39) missense probably damaging 1.00
R1075:Apbb2 UTSW 5 66,460,021 (GRCm39) missense probably damaging 1.00
R1822:Apbb2 UTSW 5 66,557,520 (GRCm39) missense probably benign 0.00
R1929:Apbb2 UTSW 5 66,464,958 (GRCm39) missense probably benign 0.33
R4157:Apbb2 UTSW 5 66,459,947 (GRCm39) nonsense probably null
R4299:Apbb2 UTSW 5 66,470,721 (GRCm39) missense probably damaging 1.00
R4627:Apbb2 UTSW 5 66,557,419 (GRCm39) splice site probably null
R4780:Apbb2 UTSW 5 66,520,160 (GRCm39) missense probably damaging 1.00
R4940:Apbb2 UTSW 5 66,609,604 (GRCm39) missense probably null
R5002:Apbb2 UTSW 5 66,470,668 (GRCm39) missense possibly damaging 0.87
R5102:Apbb2 UTSW 5 66,469,592 (GRCm39) splice site probably null
R5760:Apbb2 UTSW 5 66,520,100 (GRCm39) missense probably benign
R5868:Apbb2 UTSW 5 66,609,439 (GRCm39) missense probably damaging 1.00
R6272:Apbb2 UTSW 5 66,468,415 (GRCm39) missense probably damaging 0.97
R6280:Apbb2 UTSW 5 66,522,325 (GRCm39) missense probably damaging 1.00
R6399:Apbb2 UTSW 5 66,608,810 (GRCm39) critical splice donor site probably null
R7091:Apbb2 UTSW 5 66,470,677 (GRCm39) missense probably damaging 1.00
R7204:Apbb2 UTSW 5 66,608,946 (GRCm39) missense probably damaging 1.00
R7984:Apbb2 UTSW 5 66,465,035 (GRCm39) missense probably damaging 1.00
R8026:Apbb2 UTSW 5 66,608,987 (GRCm39) missense probably benign 0.00
R8201:Apbb2 UTSW 5 66,466,458 (GRCm39) missense probably benign
R8309:Apbb2 UTSW 5 66,520,179 (GRCm39) missense probably benign 0.01
R8773:Apbb2 UTSW 5 66,609,252 (GRCm39) missense probably damaging 0.99
R8876:Apbb2 UTSW 5 66,609,000 (GRCm39) missense probably benign
R8988:Apbb2 UTSW 5 66,609,444 (GRCm39) missense probably damaging 1.00
R9076:Apbb2 UTSW 5 66,469,507 (GRCm39) missense probably damaging 1.00
R9105:Apbb2 UTSW 5 66,460,015 (GRCm39) nonsense probably null
R9109:Apbb2 UTSW 5 66,609,018 (GRCm39) missense probably benign 0.20
R9298:Apbb2 UTSW 5 66,609,018 (GRCm39) missense probably benign 0.20
R9300:Apbb2 UTSW 5 66,470,677 (GRCm39) missense probably damaging 1.00
R9690:Apbb2 UTSW 5 66,609,521 (GRCm39) missense probably damaging 1.00
X0020:Apbb2 UTSW 5 66,549,142 (GRCm39) missense probably damaging 1.00
Z1088:Apbb2 UTSW 5 66,460,039 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09