Mutagenetix > Incidental Mutation

Incidental Mutation 'R4574:Appbp2'

343487

Institutional Source

Beutler Lab

Gene Symbol

Appbp2

Ensembl Gene

ENSMUSG00000018481

Gene Name

amyloid beta precursor protein binding protein 2

Synonyms

1300003O07Rik, PAT1

MMRRC Submission

041797-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.743) question?

Stock #

R4574 (G1)

Quality Score

200

Status

Validated

Chromosome

Chromosomal Location

85082134-85125946 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 85100764 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000018625 (fasta)

Gene Model

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

AlphaFold

Q9DAX9

Predicted Effect

probably null
Transcript: ENSMUST00000018625

SMART Domains

Protein: ENSMUSP00000018625
Gene: ENSMUSG00000018481

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

0.9596

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

97% (63/65)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1b	A	C	5: 121,638,856 (GRCm39)	S730A	probably benign	Het
Adamts9	G	A	6: 92,856,940 (GRCm39)	R319*	probably null	Het
Anapc1	G	T	2: 128,469,115 (GRCm39)	S1575R	probably damaging	Het
Bcas2	C	T	3: 103,081,666 (GRCm39)	P90S	probably benign	Het
Carmil3	GGACGA	GGA	14: 55,736,933 (GRCm39)		probably benign	Het
Cd101	T	C	3: 100,920,469 (GRCm39)	N477D	probably benign	Het
Cdk12	A	G	11: 98,111,814 (GRCm39)		probably benign	Het
Clcn4	T	C	7: 7,290,804 (GRCm39)	E634G	probably benign	Het
Cltb	C	T	13: 54,746,574 (GRCm39)	R64H	probably damaging	Het
Cpt1b	G	T	15: 89,308,247 (GRCm39)		probably null	Het
Ctf2	T	G	7: 127,318,556 (GRCm39)	T148P	possibly damaging	Het
Ddx23	G	A	15: 98,545,505 (GRCm39)	T601I	probably damaging	Het
Dlx6	G	T	6: 6,865,305 (GRCm39)		probably benign	Het
Dmrtb1	A	T	4: 107,534,265 (GRCm39)	N183K	possibly damaging	Het
Dnah11	A	G	12: 117,975,990 (GRCm39)		probably null	Het
Dnah5	C	T	15: 28,367,909 (GRCm39)	P2765S	probably benign	Het
Dnah6	T	A	6: 73,063,164 (GRCm39)	N2698I	probably damaging	Het
Fpr-rs6	T	A	17: 20,403,359 (GRCm39)	M1L	probably damaging	Het
Gm4841	T	C	18: 60,402,998 (GRCm39)	N365S	probably benign	Het
Gsdmc2	C	T	15: 63,699,872 (GRCm39)		probably null	Het
Irx5	G	A	8: 93,084,890 (GRCm39)	V27I	probably damaging	Het
Kmt2e	T	A	5: 23,697,405 (GRCm39)	V101D	possibly damaging	Het
Maip1	A	C	1: 57,452,404 (GRCm39)	K219Q	possibly damaging	Het
Mpp7	G	T	18: 7,353,228 (GRCm39)	R493S	probably benign	Het
Ms4a14	T	C	19: 11,281,335 (GRCm39)	T408A	probably benign	Het
Mthfr	A	G	4: 148,127,998 (GRCm39)	N117S	possibly damaging	Het
Mtres1	T	A	10: 43,409,006 (GRCm39)	S46C	probably damaging	Het
Myo5c	A	G	9: 75,176,893 (GRCm39)	I613V	probably benign	Het
Neurl1b	A	G	17: 26,650,860 (GRCm39)	Q44R	probably benign	Het
Nup54	T	A	5: 92,573,641 (GRCm39)	N187I	probably benign	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Or5ak22	C	A	2: 85,230,370 (GRCm39)	C169F	probably damaging	Het
Pate2	C	A	9: 35,596,969 (GRCm39)		probably benign	Het
Pccb	T	C	9: 100,867,252 (GRCm39)	S445G	probably damaging	Het
Pex3	G	A	10: 13,411,315 (GRCm39)	Q188*	probably null	Het
Pikfyve	T	A	1: 65,231,351 (GRCm39)	W74R	probably damaging	Het
Plcl2	T	C	17: 50,914,874 (GRCm39)	S628P	probably damaging	Het
Pnldc1	T	C	17: 13,111,669 (GRCm39)	H346R	probably benign	Het
Pom121l2	T	A	13: 22,168,572 (GRCm39)	C948S	probably benign	Het
Pspc1	A	T	14: 56,999,404 (GRCm39)	M284K	possibly damaging	Het
Ralgapa2	A	G	2: 146,277,919 (GRCm39)	L414S	probably damaging	Het
Rgs13	T	A	1: 144,016,583 (GRCm39)	K53N	probably damaging	Het
Rorc	T	C	3: 94,296,291 (GRCm39)	S163P	probably benign	Het
Rpl3l	A	C	17: 24,952,984 (GRCm39)	T315P	possibly damaging	Het
Rsph3b	A	G	17: 7,172,438 (GRCm39)	V487A	probably benign	Het
Rusc2	A	G	4: 43,416,080 (GRCm39)	E462G	probably damaging	Het
Sez6l	T	C	5: 112,576,344 (GRCm39)	T838A	probably damaging	Het
Slc22a14	A	G	9: 119,008,561 (GRCm39)	Y236H	probably damaging	Het
Sspo	G	A	6: 48,442,457 (GRCm39)	R1984H	probably damaging	Het
Steap3	G	T	1: 120,169,186 (GRCm39)	D370E	probably benign	Het
Sumf1	A	G	6: 108,085,393 (GRCm39)		probably benign	Het
Telo2	T	C	17: 25,320,647 (GRCm39)	E754G	probably damaging	Het
Tjp1	A	G	7: 64,972,353 (GRCm39)	F604L	probably damaging	Het
Trpm7	A	T	2: 126,639,131 (GRCm39)	D1734E	probably benign	Het
Tsfm	A	C	10: 126,864,242 (GRCm39)	Y158D	probably damaging	Het
Ubtf	T	C	11: 102,197,591 (GRCm39)		probably benign	Het
Upk3a	G	T	15: 84,904,752 (GRCm39)	V167F	possibly damaging	Het
Vmn2r19	C	T	6: 123,292,939 (GRCm39)	S327L	probably benign	Het
Vps13c	T	A	9: 67,858,965 (GRCm39)	I2805N	probably damaging	Het
Zfp592	A	G	7: 80,673,534 (GRCm39)	D166G	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- TGAAGACACCCAATACATGAAATG -3'
(R):5'- TAAGAGGTGGTCAGGGTCACT -3'

Sequencing Primer
(F):5'- CATGAAATGCAATTTAGAAGACGTG -3'
(R):5'- TGTCCTGGCAGCACCCAAAG -3'

Posted On

2015-09-24