Mutagenetix > Incidental Mutation

Incidental Mutation 'R5102:Apbb2'

392413

Institutional Source

Beutler Lab

Gene Symbol

Apbb2

Ensembl Gene

ENSMUSG00000029207

Gene Name

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

Synonyms

TR2L, Rirl1, Zfra, 2310007D03Rik, FE65L1

MMRRC Submission

042690-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5102 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66298703-66618784 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 66312249 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125116 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087256] [ENSMUST00000087256] [ENSMUST00000159512] [ENSMUST00000159786] [ENSMUST00000160063] [ENSMUST00000160870] [ENSMUST00000162349] [ENSMUST00000162349] [ENSMUST00000162366]

AlphaFold

Q9DBR4

Predicted Effect

probably null
Transcript: ENSMUST00000087256

SMART Domains

Protein: ENSMUSP00000084511
Gene: ENSMUSG00000029207

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 null
Transcript: ENSMUST00000087256

SMART Domains

Protein: ENSMUSP00000084511
Gene: ENSMUSG00000029207

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 null
Transcript: ENSMUST00000159512

SMART Domains

Protein: ENSMUSP00000124807
Gene: ENSMUSG00000029207

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 null
Transcript: ENSMUST00000159786

SMART Domains

Protein: ENSMUSP00000125211
Gene: ENSMUSG00000029207

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 benign
Transcript: ENSMUST00000160063

SMART Domains

Protein: ENSMUSP00000123778
Gene: ENSMUSG00000029207

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: ENSMUST00000160775

Predicted Effect

probably null
Transcript: ENSMUST00000160870

SMART Domains

Protein: ENSMUSP00000123978
Gene: ENSMUSG00000029207

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

noncoding transcript
Transcript: ENSMUST00000161771

Predicted Effect

probably null
Transcript: ENSMUST00000162349

SMART Domains

Protein: ENSMUSP00000123752
Gene: ENSMUSG00000029207

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 null
Transcript: ENSMUST00000162349

SMART Domains

Protein: ENSMUSP00000123752
Gene: ENSMUSG00000029207

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 null
Transcript: ENSMUST00000162366

SMART Domains

Protein: ENSMUSP00000125116
Gene: ENSMUSG00000029207

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: ENSMUST00000162955

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201776

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.3%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810006K23Rik	A	G	5: 124,338,891	N83D	probably damaging	Het
Aox4	C	T	1: 58,240,778	R518C	probably damaging	Het
Arhgap45	C	T	10: 80,021,428	P254S	probably benign	Het
Arl4c	T	C	1: 88,701,600	D22G	probably damaging	Het
Asxl1	A	G	2: 153,400,955	T1142A	probably benign	Het
BC035044	T	C	6: 128,884,986		probably benign	Het
Bmp4	T	C	14: 46,384,001	N362S	probably damaging	Het
Cbll1	G	T	12: 31,487,913	T280N	probably damaging	Het
Cdh10	A	T	15: 18,986,885	T401S	probably benign	Het
Cps1	A	T	1: 67,206,793	M1148L	probably benign	Het
Crybg1	T	C	10: 43,997,836	D1092G	probably damaging	Het
Cyth2	A	G	7: 45,810,702	S173P	probably damaging	Het
D3Ertd254e	G	A	3: 36,162,665	C55Y	possibly damaging	Het
D6Ertd527e	A	T	6: 87,111,811	I319F	unknown	Het
Dchs1	A	T	7: 105,772,177	H345Q	probably benign	Het
Ddx50	A	T	10: 62,640,861	V211E	probably damaging	Het
Dlx6	AGG	AG	6: 6,865,180		probably null	Het
Dnajb5	G	A	4: 42,956,639	D109N	possibly damaging	Het
Dner	A	T	1: 84,405,970	N564K	probably damaging	Het
Fam234b	T	C	6: 135,209,284	S97P	probably benign	Het
Fam53b	G	A	7: 132,715,955	R60*	probably null	Het
Fmo3	T	G	1: 162,963,977	K244Q	probably benign	Het
Gm12800	T	C	4: 101,909,239	F40S	probably damaging	Het
Golim4	A	G	3: 75,903,272	I192T	possibly damaging	Het
Gpr1	A	G	1: 63,183,167	V303A	probably damaging	Het
Gprin1	T	C	13: 54,739,763	M233V	probably benign	Het
Gtf2f1	A	T	17: 57,003,626	V443D	probably damaging	Het
H2afy	C	G	13: 56,096,123		probably null	Het
Hmgcs2	T	C	3: 98,280,470		probably benign	Het
Ide	T	A	19: 37,314,984	I271L	unknown	Het
Kat8	G	A	7: 127,924,816	E343K	probably damaging	Het
Kif14	A	G	1: 136,516,403	I1378V	probably benign	Het
Lhx3	TCCTACGGGCCGGCCC	TCC	2: 26,201,423		probably null	Het
Lhx6	T	C	2: 36,094,210		probably null	Het
Lrp2	C	T	2: 69,489,158	G2007D	probably damaging	Het
Lrp5	T	C	19: 3,659,304	K142R	probably damaging	Het
Mrpl2	G	A	17: 46,650,038	R286Q	probably benign	Het
Nacad	T	A	11: 6,598,528	D1402V	probably damaging	Het
Ndfip2	T	C	14: 105,298,105	I275T	possibly damaging	Het
Neb	A	C	2: 52,226,570	V4131G	possibly damaging	Het
Nfe2l1	G	A	11: 96,822,108	A83V	probably damaging	Het
Nos3	A	G	5: 24,371,627	D418G	probably damaging	Het
Olfr1126	A	T	2: 87,457,794	M210L	probably benign	Het
Olfr353	T	A	2: 36,890,044	K268M	possibly damaging	Het
Plcd4	A	G	1: 74,565,154	T764A	probably damaging	Het
Plppr3	G	T	10: 79,865,386	P541T	possibly damaging	Het
Polr2a	A	G	11: 69,746,945	I191T	possibly damaging	Het
Rab11fip1	T	C	8: 27,156,374	K225E	probably damaging	Het
Rara	A	T	11: 98,966,359	Q64L	possibly damaging	Het
Rtkn	G	A	6: 83,149,773	V305M	probably damaging	Het
Sh2b1	A	C	7: 126,471,236	F399V	probably benign	Het
Slc7a4	T	C	16: 17,575,618	T106A	probably damaging	Het
Srcap	G	A	7: 127,530,623	G539D	probably damaging	Het
Stab1	C	T	14: 31,148,017		probably null	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
IGL03108:Apbb2	APN	5	66400231	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
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

Predicted Primers

PCR Primer
(F):5'- ATGTAGCTGCACAACCCTGC -3'
(R):5'- TGTTTCCTGGGAAGGGAGAC -3'

Sequencing Primer
(F):5'- CTTGTCAGGCTCACCAGAG -3'
(R):5'- CCGGTGAAGTGGAAGGC -3'

Posted On

2016-06-15