Mutagenetix > Incidental Mutations

Incidental Mutation 'R0309:Apbb2'

25049

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

038519-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0309 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66298703-66618784 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 66310988 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125116 (fasta)

Gene Model

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

Predicted Effect

probably benign
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 benign
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 benign
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 benign
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 benign
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 benign
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: 98.7%
3x: 97.6%
10x: 94.3%
20x: 86.4%

Validation Efficiency

98% (125/127)

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: 126 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	T	C	2: 35,376,259	D133G	possibly damaging	Het
Abcb4	A	C	5: 8,939,835	D796A	probably damaging	Het
Actg2	A	T	6: 83,519,914	V147E	probably damaging	Het
Adamts13	A	C	2: 26,986,989	T534P	probably damaging	Het
Ago1	T	C	4: 126,443,166	T249A	probably benign	Het
Ahnak	T	A	19: 9,002,495	I381N	probably damaging	Het
Akap9	A	G	5: 4,069,038	D3515G	probably benign	Het
Angptl3	T	C	4: 99,034,469	V249A	probably benign	Het
Ank	A	G	15: 27,567,572	T294A	possibly damaging	Het
Ank1	A	T	8: 23,104,809	H204L	probably damaging	Het
Arhgap28	A	T	17: 67,901,429	S15T	probably benign	Het
Aspm	T	C	1: 139,482,511		probably benign	Het
Atp1a4	T	C	1: 172,234,987	E651G	probably damaging	Het
B3gnt2	A	T	11: 22,836,860	F109L	probably damaging	Het
Bpifb4	T	C	2: 153,959,683	F575L	probably damaging	Het
Calr	C	A	8: 84,843,031	K322N	probably benign	Het
Ccdc188	T	C	16: 18,219,305	S247P	possibly damaging	Het
Cdr1	T	A	X: 61,185,302	D86V	unknown	Het
Cep97	C	T	16: 55,925,058	V48I	probably damaging	Het
Chaf1b	T	A	16: 93,884,511	C6S	probably damaging	Het
Chd3	C	T	11: 69,357,018	D920N	probably damaging	Het
Clk1	T	C	1: 58,413,033		probably benign	Het
Cntnap3	T	A	13: 64,757,436		probably benign	Het
Col12a1	T	A	9: 79,600,011		probably null	Het
Col17a1	G	T	19: 47,671,362		probably benign	Het
Coq7	T	A	7: 118,529,717	I32F	possibly damaging	Het
Cox6a2	A	T	7: 128,205,935	F59I	probably damaging	Het
Cpq	A	G	15: 33,594,151	D436G	probably damaging	Het
Ctso	G	A	3: 81,944,861		probably null	Het
Cxadr	A	T	16: 78,334,948	H274L	probably benign	Het
Cyp2c40	A	T	19: 39,778,051	C367S	possibly damaging	Het
Cyp2c70	T	G	19: 40,160,671	M344L	possibly damaging	Het
Defa35	G	A	8: 21,065,855	V77I	probably benign	Het
Dhx57	A	G	17: 80,274,881	Y432H	probably damaging	Het
Dhx9	A	T	1: 153,465,695	D601E	probably benign	Het
Dnah7a	C	G	1: 53,405,690	D3952H	probably damaging	Het
Dnah9	C	A	11: 66,026,972		probably benign	Het
Dstyk	C	A	1: 132,456,864		probably benign	Het
Efcab2	T	A	1: 178,475,904		probably benign	Het
Ehbp1l1	T	C	19: 5,720,570	E287G	possibly damaging	Het
Epgn	A	G	5: 91,032,214	T87A	probably benign	Het
Erc2	A	C	14: 28,141,225	E803A	probably damaging	Het
Fam26d	A	G	10: 34,044,047	W75R	probably damaging	Het
Fer	A	G	17: 64,139,016	*454W	probably null	Het
Glyr1	T	C	16: 5,031,972	D179G	probably damaging	Het
Gm12830	T	A	4: 114,844,976		probably benign	Het
Gm14085	A	T	2: 122,517,553	T253S	probably benign	Het
Gm9922	C	A	14: 101,729,693		probably benign	Het
Gsta3	C	T	1: 21,264,894	P200S	possibly damaging	Het
Hmgxb3	G	A	18: 61,155,128		probably benign	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Il16	T	C	7: 83,722,554	K15E	probably damaging	Het
Kcnip2	T	A	19: 45,794,075		probably benign	Het
Kdm4c	T	C	4: 74,345,567	V696A	probably benign	Het
Kdr	A	G	5: 75,946,927		probably benign	Het
Klhl33	T	G	14: 50,891,411	H787P	probably damaging	Het
Klk14	A	T	7: 43,694,345	T159S	probably benign	Het
Lancl2	A	G	6: 57,703,132	N16D	probably damaging	Het
Lemd3	T	C	10: 120,937,110	N583S	possibly damaging	Het
Map3k4	TGCTGGCTTCAGGGCCACAGTCCGCTG	TGCTG	17: 12,271,015		probably null	Het
Mpl	T	G	4: 118,446,038		probably benign	Het
Myh7b	T	C	2: 155,630,672		probably benign	Het
Mylk	A	C	16: 34,912,297		probably benign	Het
Myof	A	T	19: 37,981,266	M316K	probably benign	Het
Nfib	T	A	4: 82,296,737	N543I	probably damaging	Het
Nfix	A	G	8: 84,721,774	S375P	probably damaging	Het
Nkrf	T	C	X: 36,890,116	Q171R	probably damaging	Het
Nmnat2	T	A	1: 153,077,001		probably benign	Het
Npffr2	G	A	5: 89,583,347	E379K	probably benign	Het
Npr2	T	C	4: 43,640,904		probably benign	Het
Nup98	A	C	7: 102,152,428	D212E	probably null	Het
Nwd2	T	C	5: 63,807,218	Y1382H	probably damaging	Het
Ocstamp	T	C	2: 165,395,992	R451G	possibly damaging	Het
Olfr593	T	A	7: 103,212,721	I287K	probably damaging	Het
Olfr804	A	G	10: 129,705,139	D87G	probably benign	Het
Pabpc1	C	T	15: 36,597,493	A551T	possibly damaging	Het
Papd7	A	T	13: 69,499,932	V781E	possibly damaging	Het
Pard3	A	T	8: 127,376,897		probably benign	Het
Pcdhb12	G	T	18: 37,436,121	V107L	probably benign	Het
Pik3cd	A	T	4: 149,663,220	V22D	probably damaging	Het
Pkd1l2	A	G	8: 116,997,576	V2396A	probably damaging	Het
Pnpla7	T	C	2: 24,987,195	I167T	probably damaging	Het
Pphln1	A	T	15: 93,441,707	H114L	possibly damaging	Het
Ppm1h	A	G	10: 122,920,782	N444S	probably damaging	Het
Prdm9	G	A	17: 15,557,384	T146I	probably damaging	Het
Prrc2a	A	G	17: 35,150,915		probably benign	Het
Prrx1	T	C	1: 163,312,559	D26G	possibly damaging	Het
Ptpn5	T	C	7: 47,079,294	E495G	probably damaging	Het
Rab23	A	C	1: 33,734,861		probably null	Het
Ralgps1	C	T	2: 33,157,923	M348I	probably benign	Het
Ranbp2	A	G	10: 58,479,868	T2137A	probably benign	Het
Rapgef4	G	T	2: 72,226,030	G654V	probably benign	Het
Rc3h2	A	T	2: 37,379,008		probably benign	Het
Reg2	G	A	6: 78,406,186	A39T	possibly damaging	Het
Sema4d	C	A	13: 51,725,311	V7F	probably benign	Het
Sgip1	T	C	4: 102,915,157		probably benign	Het
Sgpl1	C	T	10: 61,113,437		probably null	Het
Shisa9	G	A	16: 11,997,123	V212M	probably damaging	Het
Shq1	G	A	6: 100,573,627	P450L	probably benign	Het
Sin3a	A	G	9: 57,110,912	T872A	probably benign	Het
Sipa1l3	C	T	7: 29,348,350	R1371Q	probably benign	Het
Skint8	T	C	4: 111,938,867	V246A	probably benign	Het
Slc22a20	A	T	19: 5,972,957	V386D	probably damaging	Het
Slc2a7	G	A	4: 150,158,071		probably benign	Het
Slc35a2	T	A	X: 7,889,662	Y48N	probably damaging	Het
Slc4a2	G	T	5: 24,434,346	S413I	probably damaging	Het
Sntg2	T	C	12: 30,226,773	T427A	probably benign	Het
Soat1	T	C	1: 156,442,453	Y132C	probably damaging	Het
Stn1	G	T	19: 47,501,673	H342N	probably benign	Het
Tarbp1	T	A	8: 126,438,928		probably benign	Het
Tas2r113	A	C	6: 132,893,378	K123T	probably damaging	Het
Tbck	C	T	3: 132,734,407	Q504*	probably null	Het
Tenm3	C	T	8: 48,341,034	C380Y	probably damaging	Het
Triobp	A	G	15: 78,976,540	D1389G	probably damaging	Het
Trpm4	A	T	7: 45,308,706	F780I	probably damaging	Het
Tubb4a	G	T	17: 57,081,182	Y281*	probably null	Het
Txndc15	T	C	13: 55,724,582	F261S	probably damaging	Het
Ube3b	T	C	5: 114,419,469		probably benign	Het
Unc5c	G	C	3: 141,733,933	V196L	probably benign	Het
Upf3a	G	A	8: 13,795,500		probably null	Het
Vmn2r20	T	C	6: 123,386,104	K574E	probably benign	Het
Vps50	A	G	6: 3,536,853	M275V	possibly damaging	Het
Xrcc5	A	G	1: 72,307,576		probably benign	Het
Zbtb18	T	C	1: 177,448,616	L505S	probably damaging	Het
Zbtb41	T	C	1: 139,438,984	I567T	probably damaging	Het
Zfp598	T	C	17: 24,678,584		probably benign	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
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
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'- ACCAGTCCCCTTAGAGTCGCTATG -3'
(R):5'- TGAGAAACGCTGTCCTTACGGAAC -3'

Sequencing Primer
(F):5'- CCCCTTAGAGTCGCTATGTATGTTG -3'
(R):5'- CGGGAATAAGACATCCTGGTCTG -3'

Posted On

2013-04-16