Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03108:Apbb2'

419086

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Apbb2

Ensembl Gene

ENSMUSG00000029207

Gene Name

amyloid beta (A4) precursor protein-binding, family B, member 2

Synonyms

TR2L, Rirl1, Zfra, 2310007D03Rik, FE65L1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03108

Quality Score

Status

Chromosome

Chromosomal Location

66298703-66618784 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66400231 bp (GRCm38)

Zygosity

Heterozygous

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]

AlphaFold

Q9DBR4

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R7984:Apbb2	UTSW	5	66307692	missense	probably damaging	1.00
R8026:Apbb2	UTSW	5	66451644	missense	probably benign	0.00
R8201:Apbb2	UTSW	5	66309115	missense	probably benign
R8309:Apbb2	UTSW	5	66362836	missense	probably benign	0.01
R8773:Apbb2	UTSW	5	66451909	missense	probably damaging	0.99
R8876:Apbb2	UTSW	5	66451657	missense	probably benign
R8988:Apbb2	UTSW	5	66452101	missense	probably damaging	1.00
R9076:Apbb2	UTSW	5	66312164	missense	probably damaging	1.00
R9105:Apbb2	UTSW	5	66302672	nonsense	probably null
R9109:Apbb2	UTSW	5	66451675	missense	probably benign	0.20
R9298:Apbb2	UTSW	5	66451675	missense	probably benign	0.20
R9300:Apbb2	UTSW	5	66313334	missense	probably damaging	1.00
R9690:Apbb2	UTSW	5	66452178	missense	probably damaging	1.00
X0020:Apbb2	UTSW	5	66391799	missense	probably damaging	1.00
Z1088:Apbb2	UTSW	5	66302696	missense	probably damaging	1.00

Posted On

2016-08-02