Mutagenetix > Incidental Mutation

Incidental Mutation 'R0564:Apbb2'

46061

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

038755-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0564 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66298703-66618784 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 66452250 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 18 (M18K)

Ref Sequence

ENSEMBL: ENSMUSP00000124139 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087256] [ENSMUST00000159357] [ENSMUST00000159512] [ENSMUST00000159786] [ENSMUST00000160063] [ENSMUST00000160103] [ENSMUST00000160870] [ENSMUST00000161716] [ENSMUST00000161879] [ENSMUST00000162349] [ENSMUST00000162366] [ENSMUST00000162382] [ENSMUST00000162994]

AlphaFold

Q9DBR4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000087256
AA Change: M18K

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000084511
Gene: ENSMUSG00000029207
AA Change: M18K

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: ENSMUST00000159357

Predicted Effect

probably damaging
Transcript: ENSMUST00000159512
AA Change: M18K

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124807
Gene: ENSMUSG00000029207
AA Change: M18K

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

possibly damaging
Transcript: ENSMUST00000159786
AA Change: M18K

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000125211
Gene: ENSMUSG00000029207
AA Change: M18K

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: M18K

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123778
Gene: ENSMUSG00000029207
AA Change: M18K

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: ENSMUST00000160103
AA Change: M18K

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160185

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160870
AA Change: M18K

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000123978
Gene: ENSMUSG00000029207
AA Change: M18K

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 benign
Transcript: ENSMUST00000161716

Predicted Effect

probably damaging
Transcript: ENSMUST00000161879
AA Change: M18K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162349
AA Change: M18K

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000123752
Gene: ENSMUSG00000029207
AA Change: M18K

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: M18K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125116
Gene: ENSMUSG00000029207
AA Change: M18K

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

probably damaging
Transcript: ENSMUST00000162382
AA Change: M18K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162401

Predicted Effect

probably benign
Transcript: ENSMUST00000162994
AA Change: M18K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201776

Meta Mutation Damage Score

0.9082

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

98% (52/53)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl5	A	G	10: 80,344,847	V127A	probably damaging	Het
Alox12	T	A	11: 70,252,836	D202V	probably damaging	Het
Ankib1	A	G	5: 3,729,655	Y405H	probably damaging	Het
Atad2	C	A	15: 58,125,833		probably benign	Het
BC117090	A	T	16: 36,322,984	Y34*	probably null	Het
Birc6	T	A	17: 74,625,243		probably benign	Het
Ccdc126	T	C	6: 49,334,142	M28T	possibly damaging	Het
Cdc16	A	T	8: 13,781,618	D617V	probably damaging	Het
Cep135	G	A	5: 76,615,710	E516K	probably damaging	Het
Cep135	G	T	5: 76,638,949	M1081I	probably benign	Het
Col6a3	A	C	1: 90,807,734	V731G	probably damaging	Het
Cwc27	C	A	13: 104,661,357	E365*	probably null	Het
D230025D16Rik	T	A	8: 105,239,971		probably benign	Het
Dip2b	C	A	15: 100,162,719	Y258*	probably null	Het
Dnah17	A	G	11: 118,082,981	V1900A	probably damaging	Het
Dpysl2	A	T	14: 66,805,446		probably benign	Het
Dync2h1	A	T	9: 7,139,432	L1401Q	probably damaging	Het
Esf1	A	T	2: 140,158,586	Y427N	possibly damaging	Het
Fbln1	T	A	15: 85,227,107	V154D	probably benign	Het
Frem2	A	G	3: 53,656,109	F326L	probably damaging	Het
Gm4922	T	A	10: 18,784,065	N303I	possibly damaging	Het
Hist1h1t	G	T	13: 23,696,324	K153N	possibly damaging	Het
Iigp1	G	A	18: 60,390,451	V214M	probably damaging	Het
Luzp2	A	G	7: 54,835,962	K2E	probably damaging	Het
Mcc	A	G	18: 44,468,507	L410P	probably damaging	Het
Mfn2	A	G	4: 147,883,255	F452S	probably damaging	Het
Mib2	C	T	4: 155,659,460	G42S	probably damaging	Het
Micu2	A	G	14: 57,919,374	F335L	possibly damaging	Het
Mpp3	T	G	11: 102,005,347	K450T	possibly damaging	Het
Mtmr4	T	A	11: 87,598,888	V79E	probably damaging	Het
Nlrp4b	A	G	7: 10,714,658	I263V	probably benign	Het
Olfr551	T	C	7: 102,588,531	I71V	probably benign	Het
Olfr809	T	G	10: 129,776,136	V74G	probably damaging	Het
Pdk1	G	A	2: 71,880,039	W113*	probably null	Het
Phxr4	A	T	9: 13,431,697		probably benign	Het
Rad51ap2	T	A	12: 11,457,896	H606Q	probably benign	Het
Ralgapa1	A	T	12: 55,782,885	I187K	possibly damaging	Het
Rps27	A	G	3: 90,212,923		probably benign	Het
Sema3e	T	A	5: 14,236,085		probably null	Het
Sh2d3c	G	A	2: 32,753,052	C749Y	probably damaging	Het
Siah2	T	C	3: 58,676,235	D210G	probably benign	Het
Smap2	G	A	4: 120,976,977	P155S	probably benign	Het
Snrk	C	T	9: 122,166,544	T463M	possibly damaging	Het
Tm9sf3	A	G	19: 41,245,525		probably benign	Het
Tmem132d	C	T	5: 127,784,778	E760K	probably damaging	Het
Tmem184c	A	T	8: 77,606,160		probably null	Het
Tmem235	A	T	11: 117,860,848	I33F	possibly damaging	Het
Tmem267	A	T	13: 119,492,639		probably null	Het
Top1	G	A	2: 160,714,265	R548Q	probably damaging	Het
Trio	T	C	15: 27,805,822	N527D	probably damaging	Het
Upf3a	A	G	8: 13,795,656	K252E	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
R0309:Apbb2	UTSW	5	66310988	splice site	probably benign
R0410:Apbb2	UTSW	5	66451806	missense	possibly damaging	0.88
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

Predicted Primers

PCR Primer
(F):5'- CTTCTCGGAGGTTAGGTTGATGA -3'
(R):5'- GTGCCTTACAACCCATTTCCTTT -3'

Sequencing Primer
(F):5'- CAGGGCTGAGGTTCTTGTTG -3'
(R):5'- AACCCATTTCCTTTCTGTTC -3'

Posted On

2013-06-11