Mutagenetix > Incidental Mutation

Incidental Mutation 'R4627:Apbb2'

348852

Institutional Source

Beutler Lab

Gene Symbol

Apbb2

Ensembl Gene

ENSMUSG00000029207

Gene Name

amyloid beta precursor protein binding family B member 2

Synonyms

Zfra, TR2L, 2310007D03Rik, Rirl1, FE65L1

MMRRC Submission

041892-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4627 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66456046-66776127 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 66557419 bp (GRCm39)

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]

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: 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

silent
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: ENSMUST00000160185

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

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: ENSMUST00000162401

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201776

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6a	A	T	12: 113,508,569 (GRCm39)	D314V	probably benign	Het
Adamts18	C	T	8: 114,499,800 (GRCm39)	W371*	probably null	Het
Adamtsl2	T	A	2: 26,983,597 (GRCm39)	L331Q	probably damaging	Het
Akr1c13	G	T	13: 4,247,869 (GRCm39)	V214F	probably damaging	Het
Aldoart1	T	C	4: 72,770,680 (GRCm39)	T43A	probably benign	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Ano7	T	C	1: 93,302,907 (GRCm39)	I15T	probably benign	Het
Aopep	T	C	13: 63,215,906 (GRCm39)	S393P	probably benign	Het
Aox3	A	T	1: 58,164,194 (GRCm39)	T155S	probably damaging	Het
Ap2a1	C	T	7: 44,553,843 (GRCm39)	V535M	probably damaging	Het
Astn1	C	A	1: 158,329,821 (GRCm39)	H225Q	possibly damaging	Het
Atm	A	G	9: 53,367,806 (GRCm39)	I2439T	possibly damaging	Het
Atp1b2	T	A	11: 69,492,160 (GRCm39)	I263F	probably damaging	Het
Ccdc184	A	T	15: 98,066,638 (GRCm39)	N148Y	probably benign	Het
Cdca7	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	2: 72,312,205 (GRCm39)		probably benign	Het
Cep192	C	G	18: 67,945,440 (GRCm39)	P180R	probably benign	Het
Cfap46	T	C	7: 139,237,197 (GRCm39)	Y571C	probably damaging	Het
Cfap46	A	T	7: 139,260,843 (GRCm39)	L85Q	probably damaging	Het
Chchd6	G	A	6: 89,361,642 (GRCm39)	L226F	probably damaging	Het
Cnot6l	A	G	5: 96,225,070 (GRCm39)	V541A	probably benign	Het
Cobl	T	C	11: 12,201,093 (GRCm39)	E1214G	probably damaging	Het
Cpsf2	G	A	12: 101,956,154 (GRCm39)	R319Q	probably benign	Het
Csdc2	T	C	15: 81,833,324 (GRCm39)	V107A	probably benign	Het
Csmd1	A	G	8: 16,747,933 (GRCm39)	W273R	probably benign	Het
Dnah2	T	A	11: 69,356,202 (GRCm39)	N2156I	probably damaging	Het
Dsp	A	G	13: 38,352,617 (GRCm39)	Y165C	probably benign	Het
Exoc1	T	C	5: 76,690,075 (GRCm39)	V205A	probably benign	Het
Fam98c	T	C	7: 28,854,693 (GRCm39)	T49A	possibly damaging	Het
Fbln2	G	T	6: 91,236,749 (GRCm39)	V755L	probably damaging	Het
Fhad1	A	T	4: 141,623,779 (GRCm39)	V1371D	possibly damaging	Het
Folh1	A	T	7: 86,422,460 (GRCm39)	M59K	probably benign	Het
Foxf2	A	T	13: 31,810,871 (GRCm39)	H270L	probably benign	Het
Gm14401	G	A	2: 176,778,109 (GRCm39)	R65H	probably benign	Het
Gpn1	C	A	5: 31,655,737 (GRCm39)	Y592*	probably null	Het
Hmcn1	T	G	1: 150,471,645 (GRCm39)	D4903A	probably benign	Het
Hnf1a	T	C	5: 115,093,930 (GRCm39)	R220G	probably damaging	Het
Hoxd10	G	A	2: 74,522,636 (GRCm39)	A105T	probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kidins220	C	T	12: 25,107,041 (GRCm39)	T1498I	possibly damaging	Het
Klhl2	G	T	8: 65,211,225 (GRCm39)	Y274*	probably null	Het
Lmbrd1	A	G	1: 24,745,080 (GRCm39)	Y140C	probably damaging	Het
Mapk8ip3	G	A	17: 25,122,267 (GRCm39)	T706I	probably benign	Het
Mast4	A	C	13: 103,470,529 (GRCm39)	S58A	possibly damaging	Het
Mcm6	T	C	1: 128,279,285 (GRCm39)	D167G	probably benign	Het
Mmachc	A	T	4: 116,560,668 (GRCm39)	S276T	probably damaging	Het
Nfat5	A	T	8: 108,095,908 (GRCm39)	Q1289L	probably damaging	Het
Nlrc4	G	T	17: 74,753,623 (GRCm39)	F253L	probably damaging	Het
Nr1i3	C	A	1: 171,044,014 (GRCm39)	A112E	probably benign	Het
Or10ac1	T	A	6: 42,515,375 (GRCm39)	T194S	possibly damaging	Het
Or13a17	T	A	7: 140,271,291 (GRCm39)	S158T	probably benign	Het
Or2b28	T	C	13: 21,531,634 (GRCm39)	F179L	probably damaging	Het
Or7g33	G	T	9: 19,448,969 (GRCm39)	Q86K	possibly damaging	Het
Orc5	G	T	5: 22,753,003 (GRCm39)	F10L	probably benign	Het
Pde10a	A	C	17: 9,200,484 (GRCm39)	D779A	probably damaging	Het
Pde4b	T	C	4: 102,458,802 (GRCm39)	L486S	probably damaging	Het
Pex2	A	T	3: 5,626,341 (GRCm39)	I156N	probably damaging	Het
Phtf2	C	T	5: 20,978,738 (GRCm39)	R63Q	probably damaging	Het
Prag1	A	G	8: 36,570,446 (GRCm39)	Y343C	probably damaging	Het
Prdm16	A	T	4: 154,451,697 (GRCm39)	Y170N	probably damaging	Het
Prpf6	A	C	2: 181,243,267 (GRCm39)	K5T	probably damaging	Het
Ptpn1	A	G	2: 167,809,701 (GRCm39)	K103R	probably benign	Het
Ralgapa2	A	G	2: 146,203,373 (GRCm39)	S1159P	possibly damaging	Het
Rapgef3	G	T	15: 97,656,810 (GRCm39)	D318E	probably damaging	Het
Ripk4	A	T	16: 97,545,226 (GRCm39)	S474T	probably damaging	Het
Rmi1	A	G	13: 58,556,950 (GRCm39)	R400G	probably benign	Het
Sec16a	A	G	2: 26,319,405 (GRCm39)	V1491A	probably damaging	Het
Sec16a	C	T	2: 26,321,080 (GRCm39)		probably null	Het
Setd7	G	T	3: 51,450,086 (GRCm39)	N113K	probably damaging	Het
Shank2	C	T	7: 143,965,161 (GRCm39)	T1502M	probably damaging	Het
Skor1	A	T	9: 63,052,758 (GRCm39)	C376S	probably damaging	Het
Slc12a3	A	T	8: 95,056,012 (GRCm39)	L49F	probably benign	Het
Slc35d3	C	T	10: 19,725,077 (GRCm39)	V260M	probably damaging	Het
Slc46a1	T	A	11: 78,357,715 (GRCm39)	V256E	probably benign	Het
Slc6a1	T	C	6: 114,285,067 (GRCm39)	S127P	probably benign	Het
Syngr4	A	G	7: 45,536,452 (GRCm39)	L190P	probably damaging	Het
Tagap	G	A	17: 8,145,773 (GRCm39)		probably null	Het
Tamm41	A	T	6: 115,011,963 (GRCm39)	N89K	probably benign	Het
Tbc1d31	T	A	15: 57,831,308 (GRCm39)	M922K	probably benign	Het
Tbk1	T	C	10: 121,403,985 (GRCm39)	N254S	possibly damaging	Het
Tfec	A	G	6: 16,840,478 (GRCm39)	S140P	probably damaging	Het
Tnrc18	T	C	5: 142,725,883 (GRCm39)	E1802G	unknown	Het
Tom1l2	C	T	11: 60,133,533 (GRCm39)		probably null	Het
Tonsl	T	G	15: 76,521,424 (GRCm39)	K323Q	probably damaging	Het
Tsnaxip1	A	T	8: 106,568,039 (GRCm39)	E268D	probably damaging	Het
Ttf1	C	A	2: 28,955,172 (GRCm39)	H179N	possibly damaging	Het
Ttn	T	C	2: 76,556,517 (GRCm39)	S30163G	probably damaging	Het
Ube2c	A	G	2: 164,614,093 (GRCm39)	N143S	possibly damaging	Het
Ugt1a10	G	A	1: 88,146,112 (GRCm39)	R519Q	probably damaging	Het
Utp25	T	C	1: 192,790,003 (GRCm39)	T719A	probably benign	Het
Vmn2r9	T	C	5: 108,995,463 (GRCm39)	Y395C	probably damaging	Het
Vwa8	G	A	14: 79,341,137 (GRCm39)		probably null	Het
Zfp9	A	G	6: 118,441,937 (GRCm39)	Y242H	probably damaging	Het

Other mutations in Apbb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00911:Apbb2	APN	5	66,608,855 (GRCm39)	missense	probably damaging	1.00
IGL01615:Apbb2	APN	5	66,465,044 (GRCm39)	missense	probably benign	0.06
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
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

Predicted Primers

PCR Primer
(F):5'- CCCATTAATCAGCTCCTCTAGG -3'
(R):5'- CAGACAGATCCCGATTTGCC -3'

Sequencing Primer
(F):5'- GGTGTTTCAAGAAATCAGGATCC -3'
(R):5'- TCCCGATTTGCCGCCGG -3'

Posted On

2015-10-08