Mutagenetix > Incidental Mutation

Incidental Mutation 'R4780:Apbb2'

366406

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

041993-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4780 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66298703-66618784 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 66362817 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 477 (N477I)

Ref Sequence

ENSEMBL: ENSMUSP00000123778 (fasta)

Gene Model

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

AlphaFold

Q9DBR4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000087256
AA Change: N476I

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000084511
Gene: ENSMUSG00000029207
AA Change: N476I

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: N456I

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124807
Gene: ENSMUSG00000029207
AA Change: N456I

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: N455I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125211
Gene: ENSMUSG00000029207
AA Change: N455I

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: N477I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123778
Gene: ENSMUSG00000029207
AA Change: N477I

Domain	Start	End	E-Value	Type
WW	292	323	6.1e-10	SMART
PTB	415	510	1.3e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160870
AA Change: N476I

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123978
Gene: ENSMUSG00000029207
AA Change: N476I

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: N476I

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000123752
Gene: ENSMUSG00000029207
AA Change: N476I

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: N455I

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125116
Gene: ENSMUSG00000029207
AA Change: N455I

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: ENSMUST00000201776

Meta Mutation Damage Score

0.8017

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

98% (107/109)

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,065,370	N107D	probably benign	Het
4833413E03Rik	A	C	17: 31,558,764		noncoding transcript	Het
4931429L15Rik	G	T	9: 46,308,846	H129Q	possibly damaging	Het
A730018C14Rik	A	G	12: 112,415,635		noncoding transcript	Het
Abcc6	T	A	7: 45,996,691	K791N	probably benign	Het
Adcy4	T	G	14: 55,775,036	Q550P	probably benign	Het
Add3	C	A	19: 53,234,792	A325E	possibly damaging	Het
Agbl4	T	A	4: 111,657,331	I513N	possibly damaging	Het
Agfg1	C	A	1: 82,886,387	T392K	probably damaging	Het
Akna	C	A	4: 63,379,254	M854I	probably benign	Het
Ankrd44	T	C	1: 54,763,757	N194S	probably benign	Het
Anks1b	A	G	10: 89,873,732	K21E	probably damaging	Het
Ap1s3	A	G	1: 79,609,172	F154L	probably benign	Het
Apobec3	T	C	15: 79,899,024	C101R	possibly damaging	Het
Arnt	G	T	3: 95,488,385	V410F	probably damaging	Het
Arsg	G	A	11: 109,534,013	R270H	possibly damaging	Het
B3gnt7	T	A	1: 86,305,270	D79E	probably damaging	Het
BC067074	A	G	13: 113,317,858	Y146C	probably damaging	Het
Cd44	G	T	2: 102,861,565	A126D	probably damaging	Het
Cd69	A	G	6: 129,271,355	I56T	probably damaging	Het
Cep120	G	A	18: 53,724,536	P286S	probably benign	Het
Ces2a	T	C	8: 104,737,208	F184S	probably damaging	Het
Chrng	A	G	1: 87,207,524	N185S	probably damaging	Het
Cldn6	A	T	17: 23,681,247	M62L	probably benign	Het
Cntn6	T	A	6: 104,845,784	N765K	probably damaging	Het
Ctnnal1	T	C	4: 56,847,857	D94G	probably damaging	Het
Cyp2c69	T	C	19: 39,877,594	N185S	probably benign	Het
Depdc1a	A	G	3: 159,526,706	N698S	probably benign	Het
Dnah2	A	T	11: 69,473,871	I1986N	probably damaging	Het
Dnah7b	A	G	1: 46,353,014	E3845G	probably benign	Het
Dpysl3	C	T	18: 43,354,802	V159I	probably benign	Het
Dync1h1	T	C	12: 110,661,196	Y4047H	probably damaging	Het
E130308A19Rik	C	T	4: 59,691,057	P297L	probably benign	Het
E2f5	A	G	3: 14,587,319	T72A	probably benign	Het
Ephb6	G	T	6: 41,616,139	R437L	probably damaging	Het
Erbb4	T	C	1: 68,298,314	H615R	probably damaging	Het
Erbin	T	C	13: 103,884,206	T82A	probably damaging	Het
Eri2	T	C	7: 119,785,680	N533D	probably benign	Het
Fkbp9	A	G	6: 56,850,716	N174S	probably damaging	Het
Fsbp	C	T	4: 11,583,709	T136I	possibly damaging	Het
Fubp3	C	A	2: 31,583,211	D47E	probably damaging	Het
Gm21850	G	A	2: 154,056,499		noncoding transcript	Het
Gm5141	T	A	13: 62,774,950	Y135F	unknown	Het
Gm7353	T	A	7: 3,110,725		noncoding transcript	Het
Gm8765	C	A	13: 50,701,080	S251R	probably damaging	Het
Gm9925	T	C	18: 74,065,273		probably benign	Het
Greb1l	T	C	18: 10,541,792	S1180P	probably benign	Het
Hist1h2ag	G	A	13: 22,042,909	Q7*	probably null	Het
Kiz	A	G	2: 146,889,246	T192A	possibly damaging	Het
Klhl24	T	A	16: 20,106,958	C79S	probably damaging	Het
Map3k11	A	G	19: 5,690,938	H231R	probably damaging	Het
Mbd4	C	A	6: 115,849,384	R194S	probably benign	Het
Mettl21e	A	C	1: 44,211,143	S34R	probably benign	Het
Mrps5	T	C	2: 127,598,241	V245A	probably benign	Het
Mtrf1	T	C	14: 79,401,688	Y87H	probably benign	Het
Myh15	T	C	16: 49,120,057	I790T	probably benign	Het
Necab1	T	G	4: 14,989,248	I176L	probably benign	Het
Nfkb2	T	A	19: 46,309,922	L555Q	probably damaging	Het
Nhlrc3	T	A	3: 53,458,567	E168D	probably benign	Het
Nlrp5	T	A	7: 23,435,778	C949S	probably damaging	Het
Nup155	C	A	15: 8,157,703	A1372E	probably benign	Het
Nynrin	G	T	14: 55,863,263	R170L	probably damaging	Het
Ogfrl1	T	A	1: 23,370,321	N275Y	probably damaging	Het
Olfr1110	C	T	2: 87,135,877	S148N	probably damaging	Het
Olfr1302	A	G	2: 111,780,845	D175G	probably damaging	Het
Olfr1480	A	G	19: 13,529,955	N138S	probably benign	Het
Olfr912	A	G	9: 38,581,969	T231A	possibly damaging	Het
Olr1	A	T	6: 129,488,876	S56T	probably damaging	Het
Ovol2	A	T	2: 144,331,283		probably benign	Het
Pcdha6	A	T	18: 36,969,853	I700F	probably damaging	Het
Prkcz	C	T	4: 155,289,702	V86M	probably damaging	Het
Ptpn13	A	G	5: 103,586,773	T2124A	probably benign	Het
Ranbp3	G	T	17: 56,673,346		probably benign	Het
Rapgef2	A	G	3: 79,169,769		probably benign	Het
Rbl1	A	G	2: 157,174,804	V625A	probably benign	Het
Rbm38	G	T	2: 173,022,151	G38C	probably damaging	Het
Reg1	T	G	6: 78,426,350	F7C	possibly damaging	Het
Retnlg	A	T	16: 48,874,334	Q115L	possibly damaging	Het
Rhobtb1	G	A	10: 69,270,153	V183I	probably benign	Het
Rims1	T	C	1: 22,291,105	Q1186R	probably damaging	Het
Ryr1	A	G	7: 29,095,097	F1246L	possibly damaging	Het
Samm50	A	G	15: 84,210,610	N401S	possibly damaging	Het
Scn3a	T	A	2: 65,506,193	I690F	probably damaging	Het
Sdk1	A	G	5: 141,959,238	D304G	probably damaging	Het
Skint6	T	C	4: 113,236,397	Y183C	probably damaging	Het
Slamf1	A	T	1: 171,777,261	T200S	probably benign	Het
Slc34a2	C	T	5: 53,069,451	R639C	probably damaging	Het
Smap1	A	T	1: 23,853,436	M149K	probably benign	Het
Sorcs1	T	C	19: 50,143,981		probably benign	Het
Sp140	T	A	1: 85,610,828	D95E	possibly damaging	Het
Spata13	G	A	14: 60,753,907	W366*	probably null	Het
Strip1	G	A	3: 107,626,998	T136I	probably benign	Het
Tacr1	A	T	6: 82,557,072	T360S	probably benign	Het
Tbc1d14	T	A	5: 36,571,256		probably benign	Het
Tcaf2	T	C	6: 42,628,062	Y596C	probably damaging	Het
Tspoap1	C	T	11: 87,778,443	T1454I	possibly damaging	Het
Ttc30a2	A	C	2: 75,977,576	C197W	probably benign	Het
Ttn	A	T	2: 76,914,583	M5374K	probably benign	Het
Uts2r	G	A	11: 121,160,879	V190I	possibly damaging	Het
Vmn1r181	A	G	7: 23,984,583	T158A	possibly damaging	Het
Wdr35	A	T	12: 9,018,150	T778S	probably benign	Het
Xrn1	A	T	9: 95,974,744		probably benign	Het
Zfp35	A	T	18: 24,003,269	K223N	probably damaging	Het
Zfp764	T	C	7: 127,404,771	Q396R	probably benign	Het
Zfyve1	T	C	12: 83,558,647	Y11C	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- TTCATACTGAGGGTAGGGGC -3'
(R):5'- CCGCATCCCATAGACATAGG -3'

Sequencing Primer
(F):5'- CTATGAGATCGCGCTTCAGTATCAG -3'
(R):5'- CCTGAGGGGTGGTAGCTCATAAAG -3'

Posted On

2015-12-21