Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03068:Appbp2'

409781

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: 0.703) question?

Stock #

IGL03068

Quality Score

Status

Chromosome

Chromosomal Location

85082134-85125946 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85092246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 311 (Y311C)

Ref Sequence

ENSEMBL: ENSMUSP00000018625 (fasta)

Gene Model

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

AlphaFold

Q9DAX9

Predicted Effect

probably damaging
Transcript: ENSMUST00000018625
AA Change: Y311C

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

SMART Domains

Protein: ENSMUSP00000018625
Gene: ENSMUSG00000018481
AA Change: Y311C

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago3	A	G	4: 126,311,171 (GRCm39)	L14P	probably damaging	Het
Ak2	G	T	4: 128,901,819 (GRCm39)		probably benign	Het
Arl9	C	A	5: 77,155,225 (GRCm39)	L119I	possibly damaging	Het
Atp1a1	T	C	3: 101,491,175 (GRCm39)	H620R	probably benign	Het
Cfap52	T	C	11: 67,826,682 (GRCm39)	D381G	probably benign	Het
Cngb3	T	C	4: 19,375,246 (GRCm39)	F292S	possibly damaging	Het
Comtd1	G	A	14: 21,897,711 (GRCm39)	R203C	probably damaging	Het
Crmp1	G	T	5: 37,422,633 (GRCm39)	A147S	possibly damaging	Het
Csmd3	T	A	15: 47,710,517 (GRCm39)	H1586L	possibly damaging	Het
Ctnna1	G	A	18: 35,382,785 (GRCm39)	E644K	possibly damaging	Het
Dock3	T	C	9: 106,841,958 (GRCm39)	D957G	possibly damaging	Het
Ear1	G	T	14: 44,056,502 (GRCm39)	S122*	probably null	Het
Eefsec	G	T	6: 88,235,209 (GRCm39)	Q576K	probably benign	Het
Efcab5	T	A	11: 76,994,927 (GRCm39)	I1215L	probably benign	Het
Etfa	A	T	9: 55,394,766 (GRCm39)	D160E	probably benign	Het
Exoc7	G	A	11: 116,191,960 (GRCm39)	R197C	possibly damaging	Het
G6pc1	A	G	11: 101,261,576 (GRCm39)	D92G	probably benign	Het
Gm3182	T	A	14: 4,483,921 (GRCm38)		probably null	Het
Gm4952	A	G	19: 12,601,068 (GRCm39)	N96S	probably damaging	Het
Gpr156	G	A	16: 37,812,491 (GRCm39)	V276M	probably damaging	Het
Irs2	A	G	8: 11,054,974 (GRCm39)	S1153P	probably damaging	Het
Kif21b	T	C	1: 136,086,093 (GRCm39)		probably benign	Het
Lmo7	A	T	14: 102,112,928 (GRCm39)		probably benign	Het
Mapk4	G	T	18: 74,103,415 (GRCm39)	N31K	probably damaging	Het
Mccc2	T	C	13: 100,100,319 (GRCm39)	T357A	probably damaging	Het
Mpeg1	A	G	19: 12,439,570 (GRCm39)	T343A	probably benign	Het
Myo3b	G	T	2: 70,257,160 (GRCm39)		probably benign	Het
Pald1	T	C	10: 61,156,963 (GRCm39)	E829G	possibly damaging	Het
Pde11a	A	G	2: 75,848,208 (GRCm39)	I873T	probably damaging	Het
Samd9l	T	A	6: 3,375,348 (GRCm39)	K638*	probably null	Het
Sema4d	A	G	13: 51,862,922 (GRCm39)	S479P	probably damaging	Het
Slc12a2	T	C	18: 58,037,407 (GRCm39)		probably benign	Het
Slc47a2	T	C	11: 61,194,769 (GRCm39)	N470S	probably damaging	Het
Spag17	C	T	3: 99,987,521 (GRCm39)	P1604S	probably benign	Het
Taf8	C	A	17: 47,812,290 (GRCm39)	V39L	probably damaging	Het
Tlr11	A	G	14: 50,598,941 (GRCm39)	E309G	probably benign	Het
Tmem260	A	G	14: 48,724,371 (GRCm39)		probably benign	Het
Tsc1	A	T	2: 28,571,270 (GRCm39)	K816M	probably damaging	Het
Ttc29	A	G	8: 79,052,180 (GRCm39)	I354V	probably benign	Het
Ttll3	A	T	6: 113,386,158 (GRCm39)	N665Y	probably damaging	Het
Ubr4	A	G	4: 139,137,041 (GRCm39)	T971A	probably benign	Het
Vmn2r96	T	A	17: 18,803,137 (GRCm39)	I349N	probably benign	Het
Vwa5a	A	G	9: 38,646,143 (GRCm39)	T504A	probably benign	Het
Ythdf3	T	A	3: 16,258,882 (GRCm39)	V354E	possibly damaging	Het
Zan	C	A	5: 137,474,677 (GRCm39)	G13V	probably damaging	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
IGL02112:Appbp2	APN	11	85,092,446 (GRCm39)	missense	probably benign	0.04
IGL03051:Appbp2	APN	11	85,082,565 (GRCm39)	missense	possibly damaging	0.90
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

2016-08-02