Mutagenetix > Incidental Mutation

Incidental Mutation 'R4780:Apbb2'

366406

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

041993-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4780 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66456046-66776127 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 66520160 bp (GRCm39)

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: 137,771,131 (GRCm39)	N107D	probably benign	Het
4833413E03Rik	A	C	17: 31,777,738 (GRCm39)		noncoding transcript	Het
4931429L15Rik	G	T	9: 46,220,144 (GRCm39)	H129Q	possibly damaging	Het
A730018C14Rik	A	G	12: 112,382,069 (GRCm39)		noncoding transcript	Het
Abcc6	T	A	7: 45,646,115 (GRCm39)	K791N	probably benign	Het
Adcy4	T	G	14: 56,012,493 (GRCm39)	Q550P	probably benign	Het
Add3	C	A	19: 53,223,223 (GRCm39)	A325E	possibly damaging	Het
Agbl4	T	A	4: 111,514,528 (GRCm39)	I513N	possibly damaging	Het
Agfg1	C	A	1: 82,864,108 (GRCm39)	T392K	probably damaging	Het
Akna	C	A	4: 63,297,491 (GRCm39)	M854I	probably benign	Het
Ankrd44	T	C	1: 54,802,916 (GRCm39)	N194S	probably benign	Het
Anks1b	A	G	10: 89,709,594 (GRCm39)	K21E	probably damaging	Het
Ap1s3	A	G	1: 79,586,889 (GRCm39)	F154L	probably benign	Het
Apobec3	T	C	15: 79,783,225 (GRCm39)	C101R	possibly damaging	Het
Arnt	G	T	3: 95,395,696 (GRCm39)	V410F	probably damaging	Het
Arsg	G	A	11: 109,424,839 (GRCm39)	R270H	possibly damaging	Het
B3gnt7	T	A	1: 86,232,992 (GRCm39)	D79E	probably damaging	Het
Cd44	G	T	2: 102,691,910 (GRCm39)	A126D	probably damaging	Het
Cd69	A	G	6: 129,248,318 (GRCm39)	I56T	probably damaging	Het
Cep120	G	A	18: 53,857,608 (GRCm39)	P286S	probably benign	Het
Ces2a	T	C	8: 105,463,840 (GRCm39)	F184S	probably damaging	Het
Chrng	A	G	1: 87,135,246 (GRCm39)	N185S	probably damaging	Het
Cldn6	A	T	17: 23,900,221 (GRCm39)	M62L	probably benign	Het
Cntn6	T	A	6: 104,822,745 (GRCm39)	N765K	probably damaging	Het
Cspg4b	A	G	13: 113,454,392 (GRCm39)	Y146C	probably damaging	Het
Ctnnal1	T	C	4: 56,847,857 (GRCm39)	D94G	probably damaging	Het
Cyp2c69	T	C	19: 39,866,038 (GRCm39)	N185S	probably benign	Het
Depdc1a	A	G	3: 159,232,343 (GRCm39)	N698S	probably benign	Het
Dnah2	A	T	11: 69,364,697 (GRCm39)	I1986N	probably damaging	Het
Dnah7b	A	G	1: 46,392,174 (GRCm39)	E3845G	probably benign	Het
Dpysl3	C	T	18: 43,487,867 (GRCm39)	V159I	probably benign	Het
Dync1h1	T	C	12: 110,627,630 (GRCm39)	Y4047H	probably damaging	Het
E130308A19Rik	C	T	4: 59,691,057 (GRCm39)	P297L	probably benign	Het
E2f5	A	G	3: 14,652,379 (GRCm39)	T72A	probably benign	Het
Ephb6	G	T	6: 41,593,073 (GRCm39)	R437L	probably damaging	Het
Erbb4	T	C	1: 68,337,473 (GRCm39)	H615R	probably damaging	Het
Erbin	T	C	13: 104,020,714 (GRCm39)	T82A	probably damaging	Het
Eri2	T	C	7: 119,384,903 (GRCm39)	N533D	probably benign	Het
Fkbp9	A	G	6: 56,827,701 (GRCm39)	N174S	probably damaging	Het
Fsbp	C	T	4: 11,583,709 (GRCm39)	T136I	possibly damaging	Het
Fubp3	C	A	2: 31,473,223 (GRCm39)	D47E	probably damaging	Het
Gm21850	G	A	2: 153,898,419 (GRCm39)		noncoding transcript	Het
Gm5141	T	A	13: 62,922,764 (GRCm39)	Y135F	unknown	Het
Gm7353	T	A	7: 3,160,725 (GRCm39)		noncoding transcript	Het
Gm9925	T	C	18: 74,198,344 (GRCm39)		probably benign	Het
Greb1l	T	C	18: 10,541,792 (GRCm39)	S1180P	probably benign	Het
H2ac11	G	A	13: 22,227,079 (GRCm39)	Q7*	probably null	Het
Ift70a2	A	C	2: 75,807,920 (GRCm39)	C197W	probably benign	Het
Kiz	A	G	2: 146,731,166 (GRCm39)	T192A	possibly damaging	Het
Klhl24	T	A	16: 19,925,708 (GRCm39)	C79S	probably damaging	Het
Map3k11	A	G	19: 5,740,966 (GRCm39)	H231R	probably damaging	Het
Mbd4	C	A	6: 115,826,345 (GRCm39)	R194S	probably benign	Het
Mettl21e	A	C	1: 44,250,303 (GRCm39)	S34R	probably benign	Het
Mrps5	T	C	2: 127,440,161 (GRCm39)	V245A	probably benign	Het
Mtrf1	T	C	14: 79,639,128 (GRCm39)	Y87H	probably benign	Het
Myh15	T	C	16: 48,940,420 (GRCm39)	I790T	probably benign	Het
Necab1	T	G	4: 14,989,248 (GRCm39)	I176L	probably benign	Het
Nfkb2	T	A	19: 46,298,361 (GRCm39)	L555Q	probably damaging	Het
Nhlrc3	T	A	3: 53,365,988 (GRCm39)	E168D	probably benign	Het
Nlrp5	T	A	7: 23,135,203 (GRCm39)	C949S	probably damaging	Het
Nup155	C	A	15: 8,187,187 (GRCm39)	A1372E	probably benign	Het
Nynrin	G	T	14: 56,100,720 (GRCm39)	R170L	probably damaging	Het
Ogfrl1	T	A	1: 23,409,402 (GRCm39)	N275Y	probably damaging	Het
Olr1	A	T	6: 129,465,839 (GRCm39)	S56T	probably damaging	Het
Or4k52	A	G	2: 111,611,190 (GRCm39)	D175G	probably damaging	Het
Or5aq1	C	T	2: 86,966,221 (GRCm39)	S148N	probably damaging	Het
Or5b121	A	G	19: 13,507,319 (GRCm39)	N138S	probably benign	Het
Or8b48	A	G	9: 38,493,265 (GRCm39)	T231A	possibly damaging	Het
Ovol2	A	T	2: 144,173,203 (GRCm39)		probably benign	Het
Pcdha6	A	T	18: 37,102,906 (GRCm39)	I700F	probably damaging	Het
Prkcz	C	T	4: 155,374,159 (GRCm39)	V86M	probably damaging	Het
Ptpn13	A	G	5: 103,734,639 (GRCm39)	T2124A	probably benign	Het
Ranbp3	G	T	17: 56,980,346 (GRCm39)		probably benign	Het
Rapgef2	A	G	3: 79,077,076 (GRCm39)		probably benign	Het
Rbl1	A	G	2: 157,016,724 (GRCm39)	V625A	probably benign	Het
Rbm38	G	T	2: 172,863,944 (GRCm39)	G38C	probably damaging	Het
Reg1	T	G	6: 78,403,333 (GRCm39)	F7C	possibly damaging	Het
Retnlg	A	T	16: 48,694,697 (GRCm39)	Q115L	possibly damaging	Het
Rhobtb1	G	A	10: 69,105,983 (GRCm39)	V183I	probably benign	Het
Rims1	T	C	1: 22,361,329 (GRCm39)	Q1186R	probably damaging	Het
Ryr1	A	G	7: 28,794,522 (GRCm39)	F1246L	possibly damaging	Het
Samm50	A	G	15: 84,094,811 (GRCm39)	N401S	possibly damaging	Het
Scn3a	T	A	2: 65,336,537 (GRCm39)	I690F	probably damaging	Het
Sdk1	A	G	5: 141,944,993 (GRCm39)	D304G	probably damaging	Het
Skint6	T	C	4: 113,093,594 (GRCm39)	Y183C	probably damaging	Het
Slamf1	A	T	1: 171,604,829 (GRCm39)	T200S	probably benign	Het
Slc34a2	C	T	5: 53,226,793 (GRCm39)	R639C	probably damaging	Het
Smap1	A	T	1: 23,892,517 (GRCm39)	M149K	probably benign	Het
Sorcs1	T	C	19: 50,132,419 (GRCm39)		probably benign	Het
Sp140	T	A	1: 85,538,549 (GRCm39)	D95E	possibly damaging	Het
Spata13	G	A	14: 60,991,356 (GRCm39)	W366*	probably null	Het
Spata31e4	C	A	13: 50,855,116 (GRCm39)	S251R	probably damaging	Het
Strip1	G	A	3: 107,534,314 (GRCm39)	T136I	probably benign	Het
Tacr1	A	T	6: 82,534,053 (GRCm39)	T360S	probably benign	Het
Tbc1d14	T	A	5: 36,728,600 (GRCm39)		probably benign	Het
Tcaf2	T	C	6: 42,604,996 (GRCm39)	Y596C	probably damaging	Het
Tspoap1	C	T	11: 87,669,269 (GRCm39)	T1454I	possibly damaging	Het
Ttn	A	T	2: 76,744,927 (GRCm39)	M5374K	probably benign	Het
Uts2r	G	A	11: 121,051,705 (GRCm39)	V190I	possibly damaging	Het
Vmn1r181	A	G	7: 23,684,008 (GRCm39)	T158A	possibly damaging	Het
Wdr35	A	T	12: 9,068,150 (GRCm39)	T778S	probably benign	Het
Xrn1	A	T	9: 95,856,797 (GRCm39)		probably benign	Het
Zfp35	A	T	18: 24,136,326 (GRCm39)	K223N	probably damaging	Het
Zfp764	T	C	7: 127,003,943 (GRCm39)	Q396R	probably benign	Het
Zfyve1	T	C	12: 83,605,421 (GRCm39)	Y11C	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
R4627:Apbb2	UTSW	5	66,557,419 (GRCm39)	splice site	probably null
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'- TTCATACTGAGGGTAGGGGC -3'
(R):5'- CCGCATCCCATAGACATAGG -3'

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

Posted On

2015-12-21