Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02112:Appbp2'

280193

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Appbp2

Ensembl Gene

ENSMUSG00000018481

Gene Name

amyloid beta precursor protein binding protein 2

Synonyms

1300003O07Rik, PAT1

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.743) question?

Stock #

IGL02112

Quality Score

Status

Chromosome

Chromosomal Location

85082134-85125946 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85092446 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 271 (H271Q)

Ref Sequence

ENSEMBL: ENSMUSP00000018625 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018625]

AlphaFold

Q9DAX9

Predicted Effect

probably benign
Transcript: ENSMUST00000018625
AA Change: H271Q

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000018625
Gene: ENSMUSG00000018481
AA Change: H271Q

Domain	Start	End	E-Value	Type
Pfam:TPR_12	395	461	6.5e-13	PFAM
Pfam:TPR_10	428	467	1.1e-9	PFAM
Pfam:TPR_7	432	466	1.2e-5	PFAM
Pfam:TPR_10	470	509	8.9e-7	PFAM

Coding Region Coverage

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 microtubules and is functionally associated with beta-amyloid precursor protein transport and/or processing. The beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimer's disease. The encoded protein may be involved in regulating cell death. This gene has been found to be highly expressed in breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	T	A	8: 44,104,175 (GRCm39)	Y490F	possibly damaging	Het
Arhgap17	A	T	7: 122,917,640 (GRCm39)	D181E	possibly damaging	Het
Arhgap25	T	A	6: 87,444,919 (GRCm39)	Y286F	possibly damaging	Het
Atf2	T	C	2: 73,649,381 (GRCm39)	K352R	probably damaging	Het
Bdp1	G	A	13: 100,174,308 (GRCm39)	T2076I	probably benign	Het
C1s2	A	G	6: 124,602,267 (GRCm39)	V642A	probably benign	Het
Cldn18	T	A	9: 99,580,128 (GRCm39)	T170S	probably benign	Het
Cntnap5c	T	A	17: 58,620,853 (GRCm39)	H977Q	probably benign	Het
Col15a1	T	A	4: 47,253,985 (GRCm39)		probably benign	Het
Csmd1	A	T	8: 16,131,719 (GRCm39)	Y1669N	probably benign	Het
Csmd3	A	C	15: 48,177,265 (GRCm39)	S424R	possibly damaging	Het
Cyp4a31	A	G	4: 115,428,180 (GRCm39)	D306G	probably damaging	Het
E2f2	A	G	4: 135,920,145 (GRCm39)	T377A	probably benign	Het
Edil3	A	G	13: 89,328,374 (GRCm39)	D276G	probably damaging	Het
Ei24	A	T	9: 36,693,638 (GRCm39)	Y305N	probably damaging	Het
Erbin	T	C	13: 103,998,844 (GRCm39)	N181D	probably benign	Het
Gli3	A	G	13: 15,837,099 (GRCm39)	Q494R	probably damaging	Het
Gm16519	T	C	17: 71,236,291 (GRCm39)	I80T	probably damaging	Het
Haus8	T	A	8: 71,708,205 (GRCm39)	E163V	probably damaging	Het
Hephl1	G	T	9: 14,993,111 (GRCm39)		probably benign	Het
Hnrnph3	A	G	10: 62,852,184 (GRCm39)		probably null	Het
Liat1	G	T	11: 75,894,214 (GRCm39)	C197F	probably benign	Het
Mast2	A	T	4: 116,176,961 (GRCm39)	C437S	probably damaging	Het
Mef2a	A	C	7: 66,914,620 (GRCm39)	S91R	probably damaging	Het
Mfge8	A	T	7: 78,793,088 (GRCm39)	V126D	probably benign	Het
Nrdc	A	G	4: 108,884,629 (GRCm39)		probably benign	Het
Or7d10	T	A	9: 19,831,821 (GRCm39)	N105K	possibly damaging	Het
Panx2	A	G	15: 88,953,772 (GRCm39)	T576A	probably benign	Het
Per3	T	C	4: 151,113,640 (GRCm39)	Y306C	probably benign	Het
Ppm1h	G	A	10: 122,638,305 (GRCm39)	G192R	possibly damaging	Het
Prss22	T	C	17: 24,212,945 (GRCm39)	E264G	probably damaging	Het
Rasa3	A	G	8: 13,635,042 (GRCm39)		probably benign	Het
Rpl7a-ps8	C	A	7: 19,687,985 (GRCm39)		probably benign	Het
Rundc1	A	G	11: 101,324,425 (GRCm39)	D377G	probably benign	Het
Sh3bp1	T	C	15: 78,790,084 (GRCm39)		probably null	Het
Sobp	A	G	10: 42,897,873 (GRCm39)	S571P	probably benign	Het
Styxl2	C	A	1: 165,927,240 (GRCm39)	E791*	probably null	Het
Syce1	C	A	7: 140,359,545 (GRCm39)	M114I	probably benign	Het
Tdrd6	G	A	17: 43,940,242 (GRCm39)	R269W	probably damaging	Het
Tmprss13	T	C	9: 45,250,702 (GRCm39)	S408P	probably damaging	Het
Tonsl	T	C	15: 76,517,602 (GRCm39)	T706A	probably benign	Het
Tpcn2	A	G	7: 144,810,529 (GRCm39)	S603P	probably benign	Het
Trmt12	A	T	15: 58,744,665 (GRCm39)	Q21L	probably damaging	Het
Vmn1r68	C	T	7: 10,261,787 (GRCm39)	G104S	probably damaging	Het
Vmn2r82	T	C	10: 79,231,833 (GRCm39)	W611R	probably benign	Het
Vmn2r90	C	A	17: 17,932,465 (GRCm39)	T124K	probably damaging	Het
Vmn2r99	A	G	17: 19,600,494 (GRCm39)	E506G	probably null	Het

Other mutations in Appbp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01736:Appbp2	APN	11	85,105,143 (GRCm39)	missense	possibly damaging	0.86
IGL03051:Appbp2	APN	11	85,082,565 (GRCm39)	missense	possibly damaging	0.90
IGL03068:Appbp2	APN	11	85,092,246 (GRCm39)	missense	probably damaging	1.00
IGL03260:Appbp2	APN	11	85,107,283 (GRCm39)	missense	probably benign	0.00
IGL03358:Appbp2	APN	11	85,100,860 (GRCm39)	missense	probably benign	0.17
R0017:Appbp2	UTSW	11	85,105,129 (GRCm39)	missense	possibly damaging	0.46
R0267:Appbp2	UTSW	11	85,092,288 (GRCm39)	missense	probably damaging	1.00
R0504:Appbp2	UTSW	11	85,082,513 (GRCm39)	missense	probably benign	0.05
R1661:Appbp2	UTSW	11	85,100,936 (GRCm39)	critical splice acceptor site	probably null
R3438:Appbp2	UTSW	11	85,088,966 (GRCm39)	missense	probably damaging	1.00
R3817:Appbp2	UTSW	11	85,088,934 (GRCm39)	missense	probably damaging	1.00
R3950:Appbp2	UTSW	11	85,085,532 (GRCm39)	missense	probably damaging	1.00
R4273:Appbp2	UTSW	11	85,125,502 (GRCm39)	missense	probably damaging	1.00
R4574:Appbp2	UTSW	11	85,100,764 (GRCm39)	critical splice donor site	probably null
R4948:Appbp2	UTSW	11	85,085,409 (GRCm39)	missense	possibly damaging	0.87
R5322:Appbp2	UTSW	11	85,086,890 (GRCm39)	critical splice donor site	probably null
R5581:Appbp2	UTSW	11	85,100,921 (GRCm39)	missense	possibly damaging	0.92
R5593:Appbp2	UTSW	11	85,085,409 (GRCm39)	missense	possibly damaging	0.87
R5698:Appbp2	UTSW	11	85,100,925 (GRCm39)	missense	probably damaging	1.00
R7095:Appbp2	UTSW	11	85,125,553 (GRCm39)	nonsense	probably null
R7141:Appbp2	UTSW	11	85,082,577 (GRCm39)	nonsense	probably null
R9410:Appbp2	UTSW	11	85,106,067 (GRCm39)	missense	probably damaging	1.00
R9530:Appbp2	UTSW	11	85,107,306 (GRCm39)	missense	probably damaging	0.99
X0058:Appbp2	UTSW	11	85,092,456 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16