Mutagenetix > Incidental Mutation

Incidental Mutation 'R9300:Apbb2'

704845

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9300 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

66456046-66776127 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 66470677 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 520 (L520H)

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 damaging
Transcript: ENSMUST00000087256
AA Change: L543H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000084511
Gene: ENSMUSG00000029207
AA Change: L543H

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: L521H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124807
Gene: ENSMUSG00000029207
AA Change: L521H

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: L520H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125211
Gene: ENSMUSG00000029207
AA Change: L520H

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

probably damaging
Transcript: ENSMUST00000160870
AA Change: L541H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123978
Gene: ENSMUSG00000029207
AA Change: L541H

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: L543H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123752
Gene: ENSMUSG00000029207
AA Change: L543H

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: L520H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125116
Gene: ENSMUSG00000029207
AA Change: L520H

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	G	A	5: 8,875,614 (GRCm39)	V596I	probably benign	Het
Acad8	A	T	9: 26,888,928 (GRCm39)	H371Q	probably damaging	Het
Actn3	G	T	19: 4,921,656 (GRCm39)	R175S	probably benign	Het
Adamts9	G	T	6: 92,864,371 (GRCm39)	D780E	probably benign	Het
AK157302	C	A	13: 21,679,537 (GRCm39)	T21K	probably benign	Het
Ank3	A	T	10: 69,706,872 (GRCm39)	H329L	unknown	Het
Ankrd36	A	G	11: 5,519,979 (GRCm39)	H18R	possibly damaging	Het
Anks1b	T	A	10: 90,412,966 (GRCm39)	V38D	possibly damaging	Het
Arid1b	C	A	17: 5,293,274 (GRCm39)	P731T	probably damaging	Het
Atp1a4	A	G	1: 172,067,398 (GRCm39)	F578S	probably damaging	Het
Atp6v0a2	A	T	5: 124,789,312 (GRCm39)	I360F	probably damaging	Het
Bcas3	A	T	11: 85,448,184 (GRCm39)	I600F	probably damaging	Het
C1qtnf7	T	G	5: 43,766,441 (GRCm39)	C20W	possibly damaging	Het
Cadm1	A	T	9: 47,708,821 (GRCm39)	K184*	probably null	Het
Ccdc138	A	T	10: 58,343,448 (GRCm39)	H101L	probably benign	Het
Cep120	T	A	18: 53,852,369 (GRCm39)	N503I	probably damaging	Het
Chil4	T	C	3: 106,109,874 (GRCm39)	T380A	probably benign	Het
Clip2	A	G	5: 134,526,942 (GRCm39)		probably null	Het
Cyp3a11	G	A	5: 145,799,164 (GRCm39)	P341L	possibly damaging	Het
Cyp3a41a	G	C	5: 145,656,906 (GRCm39)		probably benign	Het
Dcaf1	A	G	9: 106,725,042 (GRCm39)	I509M	possibly damaging	Het
Dcaf13	T	C	15: 39,010,102 (GRCm39)	S429P	probably damaging	Het
Eln	A	G	5: 134,758,220 (GRCm39)	V151A	unknown	Het
Endou	T	G	15: 97,610,954 (GRCm39)	M377L	probably benign	Het
Etfa	A	G	9: 55,396,152 (GRCm39)	I138T	probably damaging	Het
Fbxw10	T	A	11: 62,768,109 (GRCm39)	S982T	probably benign	Het
Gm9602	A	T	14: 15,933,435 (GRCm39)	R47*	probably null	Het
Hectd4	G	A	5: 121,486,952 (GRCm39)	V3316I	probably benign	Het
Hif1a	T	C	12: 73,987,302 (GRCm39)	L477S	probably benign	Het
Icam5	G	C	9: 20,946,846 (GRCm39)	G458A	probably benign	Het
Itm2b	A	T	14: 73,603,896 (GRCm39)	D106E	probably benign	Het
Kdm4d	G	A	9: 14,375,336 (GRCm39)	T174M	probably damaging	Het
Kif16b	G	T	2: 142,541,207 (GRCm39)	D1364E	probably benign	Het
Lbhd1	G	A	19: 8,861,550 (GRCm39)	V61M	probably damaging	Het
Lclat1	T	A	17: 73,546,919 (GRCm39)	S279T	probably benign	Het
Lhx4	G	A	1: 155,580,956 (GRCm39)	L190F	probably damaging	Het
Lima1	C	T	15: 99,704,320 (GRCm39)	S283N	probably benign	Het
Magi1	C	A	6: 93,724,209 (GRCm39)	D496Y	probably damaging	Het
Map1a	T	C	2: 121,133,446 (GRCm39)	S1421P	probably damaging	Het
Map3k20	C	T	2: 72,202,257 (GRCm39)	H163Y	probably damaging	Het
Mier3	T	G	13: 111,822,890 (GRCm39)		probably null	Het
Mllt3	G	A	4: 87,692,284 (GRCm39)	Q560*	probably null	Het
Mmp25	T	A	17: 23,851,728 (GRCm39)	D327V	probably benign	Het
Nckap5	G	A	1: 125,909,423 (GRCm39)	Q1603*	probably null	Het
Nell1	G	A	7: 49,712,368 (GRCm39)	V63I	probably benign	Het
Or10al3	C	T	17: 38,011,815 (GRCm39)	P85S	probably damaging	Het
Or2ag2b	A	T	7: 106,418,111 (GRCm39)	I274F	probably benign	Het
Or8a1	A	C	9: 37,641,578 (GRCm39)	S234A	probably benign	Het
Pde12	C	T	14: 26,386,931 (GRCm39)	E526K	probably damaging	Het
Pfn4	T	C	12: 4,825,442 (GRCm39)	V93A	possibly damaging	Het
Poglut2	A	G	1: 44,156,362 (GRCm39)	I75T	possibly damaging	Het
Ppp2r3d	A	G	9: 124,423,977 (GRCm38)	S60P	unknown	Het
Prelp	T	C	1: 133,842,257 (GRCm39)	H296R	probably damaging	Het
Prickle1	T	C	15: 93,398,749 (GRCm39)	E693G	possibly damaging	Het
Rars1	A	G	11: 35,706,488 (GRCm39)	L477P	probably damaging	Het
Rasal1	G	A	5: 120,802,172 (GRCm39)	R328H	probably damaging	Het
Rasef	A	G	4: 73,659,393 (GRCm39)	F220S	probably benign	Het
Rif1	C	T	2: 52,001,151 (GRCm39)	S1535L	probably damaging	Het
Rnf17	T	C	14: 56,697,495 (GRCm39)	I463T	possibly damaging	Het
Ryr3	A	T	2: 112,690,695 (GRCm39)	D1138E	probably benign	Het
Scn9a	T	A	2: 66,335,236 (GRCm39)	Y1251F	probably benign	Het
Sdk2	A	G	11: 113,715,856 (GRCm39)	W1568R	possibly damaging	Het
Senp6	A	G	9: 80,049,433 (GRCm39)	E1019G	probably damaging	Het
Shh	A	G	5: 28,663,461 (GRCm39)	Y236H	probably damaging	Het
Sin3a	A	G	9: 57,014,744 (GRCm39)	D655G	probably damaging	Het
Slc35a4	C	T	18: 36,815,274 (GRCm39)	P35S	probably damaging	Het
Slc35g1	T	C	19: 38,384,633 (GRCm39)	L24P	probably benign	Het
Slc39a4	G	T	15: 76,498,759 (GRCm39)	Q312K	probably damaging	Het
Slc6a5	A	T	7: 49,601,175 (GRCm39)	I659F	probably damaging	Het
Slc7a4	T	C	16: 17,392,399 (GRCm39)	Y345C	probably benign	Het
Slco6c1	G	T	1: 96,993,809 (GRCm39)	R645S	probably benign	Het
Soat1	T	C	1: 156,268,923 (GRCm39)	Y209C	probably benign	Het
Tbc1d9b	T	C	11: 50,054,714 (GRCm39)	S953P	probably benign	Het
Tgm1	G	A	14: 55,942,303 (GRCm39)	H683Y	probably benign	Het
Tmem98	G	A	11: 80,708,432 (GRCm39)	R134Q	probably damaging	Het
Trpm3	A	C	19: 22,955,745 (GRCm39)	M1107L	possibly damaging	Het
Vmn1r11	G	A	6: 57,114,872 (GRCm39)	V179I	probably benign	Het
Vmn1r119	G	T	7: 20,745,638 (GRCm39)	T248K	probably damaging	Het
Vmn1r236	T	A	17: 21,506,945 (GRCm39)	I21N	possibly damaging	Het
Vmn2r24	A	G	6: 123,793,030 (GRCm39)	T786A	possibly damaging	Het
Vstm5	A	T	9: 15,168,585 (GRCm39)	I50F	probably damaging	Het
Wdr1	T	C	5: 38,685,255 (GRCm39)	D572G	probably damaging	Het
Xaf1	T	C	11: 72,192,517 (GRCm39)	F5S	probably benign	Het
Zan	A	T	5: 137,468,519 (GRCm39)		probably null	Het
Zfp697	T	C	3: 98,334,979 (GRCm39)	V248A	possibly damaging	Het
Zftraf1	C	A	15: 76,530,541 (GRCm39)	V260L	probably benign	Het
Zkscan3	T	A	13: 21,577,667 (GRCm39)	T249S	unknown	Het
Znfx1	A	G	2: 166,897,860 (GRCm39)	Y355H	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
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
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'- CAGCGCCCTGGACTTAAAAG -3'
(R):5'- ACCACTGACATATTGGCTTTGAG -3'

Sequencing Primer
(F):5'- GGACCACTACACATTAATGACTTGGG -3'
(R):5'- CACTGACATATTGGCTTTGAGCTCAG -3'

Posted On

2022-03-25