Mutagenetix > Incidental Mutation

Incidental Mutation 'R0267:Appbp2'

35014

Institutional Source

Beutler Lab

Gene Symbol

Appbp2

Ensembl Gene

ENSMUSG00000018481

Gene Name

amyloid beta precursor protein (cytoplasmic tail) binding protein 2

Synonyms

PAT1, 1300003O07Rik

MMRRC Submission

038493-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.614) question?

Stock #

R0267 (G1)

Quality Score

186

Status

Validated

Chromosome

Chromosomal Location

85187262-85235130 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85201462 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 297 (Y297C)

Ref Sequence

ENSEMBL: ENSMUSP00000018625 (fasta)

Gene Model

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

AlphaFold

Q9DAX9

Predicted Effect

probably damaging
Transcript: ENSMUST00000018625
AA Change: Y297C

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

SMART Domains

Protein: ENSMUSP00000018625
Gene: ENSMUSG00000018481
AA Change: Y297C

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

Meta Mutation Damage Score

0.2004

Coding Region Coverage

1x: 98.6%
3x: 97.7%
10x: 96.2%
20x: 94.0%

Validation Efficiency

97% (64/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,046,105	F1721S	probably damaging	Het
Adgrb1	G	A	15: 74,529,389	R78H	probably damaging	Het
Adgrd1	G	A	5: 129,139,594	A342T	probably benign	Het
Adrb1	A	T	19: 56,723,491	K374*	probably null	Het
Aldh18a1	C	A	19: 40,573,789	V264F	probably benign	Het
Aldh1l2	C	T	10: 83,522,687		probably benign	Het
Alox15	T	A	11: 70,346,153	H393L	probably damaging	Het
Aox2	A	G	1: 58,339,446		probably benign	Het
Atxn2l	T	G	7: 126,493,207	Q950P	probably damaging	Het
Bicd1	A	T	6: 149,517,042	D737V	probably damaging	Het
C9	T	C	15: 6,467,458	I212T	probably benign	Het
Ccdc63	A	T	5: 122,117,044		probably benign	Het
Chst1	C	A	2: 92,613,606	P141Q	probably damaging	Het
Cped1	T	A	6: 22,119,476	F311L	probably damaging	Het
D6Wsu163e	T	A	6: 126,946,491	H113Q	probably benign	Het
Dcn	A	T	10: 97,506,483		probably benign	Het
Dmbx1	C	T	4: 115,918,112	A324T	probably benign	Het
Dock10	G	T	1: 80,512,454	Q1618K	probably damaging	Het
Dpyd	A	G	3: 118,917,272	E443G	probably benign	Het
Espl1	T	C	15: 102,313,017	V953A	possibly damaging	Het
Exosc10	T	C	4: 148,562,756	L174P	probably damaging	Het
Foxg1	A	G	12: 49,385,582	Y366C	probably damaging	Het
Fxyd3	T	C	7: 31,070,734		probably benign	Het
Gbp2	T	C	3: 142,630,106	V189A	probably benign	Het
Gins4	T	C	8: 23,229,410		probably benign	Het
Gm12789	A	G	4: 101,988,122	T3A	probably benign	Het
Gnb1l	T	C	16: 18,548,089		probably benign	Het
Gtpbp3	T	C	8: 71,491,497	L295S	probably damaging	Het
Hrh4	C	A	18: 13,022,398	Y331*	probably null	Het
Hsd11b1	A	T	1: 193,241,397	Y52N	probably damaging	Het
Jam3	A	G	9: 27,106,405	I29T	probably benign	Het
Kctd16	T	A	18: 40,530,877	I353N	probably benign	Het
Lama4	G	T	10: 39,028,639	G246C	probably damaging	Het
Lhx3	T	A	2: 26,203,028	M137L	probably benign	Het
Morc2a	T	C	11: 3,678,567	I340T	probably benign	Het
Myo7a	A	C	7: 98,054,624	I1969S	probably benign	Het
Olfr1471	T	A	19: 13,445,428	C139S	probably damaging	Het
Olfr304	T	C	7: 86,386,267	E131G	possibly damaging	Het
Olfr429	A	G	1: 174,089,166	N42S	probably damaging	Het
Pclo	T	C	5: 14,681,180	L3232P	unknown	Het
Polr1a	T	G	6: 71,974,139	I1407M	probably damaging	Het
Ppip5k2	A	G	1: 97,728,997	V817A	probably damaging	Het
Rbfox3	T	C	11: 118,495,240	T280A	probably benign	Het
Rfx3	T	C	19: 27,793,788	D521G	probably benign	Het
Scn5a	C	T	9: 119,543,135	V223I	probably damaging	Het
Sgsm3	T	G	15: 81,006,602	M119R	probably damaging	Het
Slc6a7	T	A	18: 60,996,711	M608L	probably benign	Het
Slit2	A	G	5: 48,182,331		probably benign	Het
Steap2	T	A	5: 5,673,561	I440F	probably benign	Het
Syn2	T	G	6: 115,254,150		probably benign	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Tfb2m	G	A	1: 179,533,638	H262Y	probably benign	Het
Trmt1l	A	G	1: 151,457,675		probably benign	Het
Trpm6	C	A	19: 18,823,378	P819T	probably benign	Het
Ttn	G	A	2: 76,743,689	A25620V	probably damaging	Het
Ubn2	T	C	6: 38,482,618		probably null	Het
Vars	T	C	17: 35,011,596		probably benign	Het
Vip	A	T	10: 5,644,004	D119V	possibly damaging	Het
Vmn2r92	C	T	17: 18,167,957	A408V	probably damaging	Het
Vps33b	T	C	7: 80,286,054	I405T	possibly damaging	Het
Zbtb21	T	A	16: 97,952,100	S356C	probably damaging	Het
Zdhhc6	A	T	19: 55,308,930	S237T	probably benign	Het
Zfp142	G	A	1: 74,576,064	A427V	probably benign	Het
Zfp692	T	A	11: 58,314,314	V463E	possibly damaging	Het
Zmynd8	A	T	2: 165,828,402	I384N	probably damaging	Het

Other mutations in Appbp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01736:Appbp2	APN	11	85214317	missense	possibly damaging	0.86
IGL02112:Appbp2	APN	11	85201620	missense	probably benign	0.04
IGL03051:Appbp2	APN	11	85191739	missense	possibly damaging	0.90
IGL03068:Appbp2	APN	11	85201420	missense	probably damaging	1.00
IGL03260:Appbp2	APN	11	85216457	missense	probably benign	0.00
IGL03358:Appbp2	APN	11	85210034	missense	probably benign	0.17
R0017:Appbp2	UTSW	11	85214303	missense	possibly damaging	0.46
R0504:Appbp2	UTSW	11	85191687	missense	probably benign	0.05
R1661:Appbp2	UTSW	11	85210110	critical splice acceptor site	probably null
R3438:Appbp2	UTSW	11	85198140	missense	probably damaging	1.00
R3817:Appbp2	UTSW	11	85198108	missense	probably damaging	1.00
R3950:Appbp2	UTSW	11	85194706	missense	probably damaging	1.00
R4273:Appbp2	UTSW	11	85234676	missense	probably damaging	1.00
R4574:Appbp2	UTSW	11	85209938	critical splice donor site	probably null
R4948:Appbp2	UTSW	11	85194583	missense	possibly damaging	0.87
R5322:Appbp2	UTSW	11	85196064	critical splice donor site	probably null
R5581:Appbp2	UTSW	11	85210095	missense	possibly damaging	0.92
R5593:Appbp2	UTSW	11	85194583	missense	possibly damaging	0.87
R5698:Appbp2	UTSW	11	85210099	missense	probably damaging	1.00
R7095:Appbp2	UTSW	11	85234727	nonsense	probably null
R7141:Appbp2	UTSW	11	85191751	nonsense	probably null
R9410:Appbp2	UTSW	11	85215241	missense	probably damaging	1.00
R9530:Appbp2	UTSW	11	85216480	missense	probably damaging	0.99
X0058:Appbp2	UTSW	11	85201630	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCCTGATGGTTTCAATCCTGAACG -3'
(R):5'- CATGCAGTGTATTTGGCACGGTAAG -3'

Sequencing Primer
(F):5'- cacacacacacacacacac -3'
(R):5'- CACGGTAAGTGATTGTTACTCAAGG -3'

Posted On

2013-05-09