Mutagenetix > Incidental Mutation

Incidental Mutation 'R5593:Appbp2'

437642

Institutional Source

Beutler Lab

Gene Symbol

Appbp2

Ensembl Gene

ENSMUSG00000018481

Gene Name

amyloid beta precursor protein binding protein 2

Synonyms

1300003O07Rik, PAT1

MMRRC Submission

043145-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.743) question?

Stock #

R5593 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85082134-85125946 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85085409 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 499 (I499K)

Ref Sequence

ENSEMBL: ENSMUSP00000018625 (fasta)

Gene Model

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

AlphaFold

Q9DAX9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018625
AA Change: I499K

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000018625
Gene: ENSMUSG00000018481
AA Change: I499K

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

0.5269

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

100% (71/71)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930556J24Rik	C	T	11: 3,888,027 (GRCm39)	V120I	unknown	Het
Anpep	T	G	7: 79,491,794 (GRCm39)	K69T	probably benign	Het
Copb2	A	G	9: 98,469,091 (GRCm39)		probably null	Het
Cpa5	T	C	6: 30,630,848 (GRCm39)	I370T	probably benign	Het
Cpn2	T	C	16: 30,078,898 (GRCm39)	T268A	probably benign	Het
Ctbp2	C	A	7: 132,600,598 (GRCm39)	R99I	possibly damaging	Het
Cul1	G	A	6: 47,462,020 (GRCm39)	W196*	probably null	Het
Cul1	T	C	6: 47,491,925 (GRCm39)	F402L	probably damaging	Het
Cysltr2	T	C	14: 73,266,931 (GRCm39)	K260E	probably benign	Het
Dyrk1a	C	A	16: 94,460,442 (GRCm39)	Q33K	possibly damaging	Het
Elapor2	T	A	5: 9,316,350 (GRCm39)	L27Q	probably benign	Het
Epg5	T	A	18: 78,000,689 (GRCm39)	S542T	probably damaging	Het
Eps8l3	A	T	3: 107,798,504 (GRCm39)		probably benign	Het
Evc2	A	G	5: 37,544,321 (GRCm39)	H690R	probably damaging	Het
Fam227a	G	A	15: 79,524,259 (GRCm39)		probably benign	Het
Gadl1	G	T	9: 115,835,718 (GRCm39)	G382V	probably damaging	Het
Gbf1	A	G	19: 46,260,963 (GRCm39)	Q1176R	possibly damaging	Het
Gdf9	A	T	11: 53,324,558 (GRCm39)	H109L	probably damaging	Het
Gsdmd	T	A	15: 75,738,856 (GRCm39)	V411D	probably damaging	Het
Hdc	T	C	2: 126,460,504 (GRCm39)		probably benign	Het
Ifrd2	A	G	9: 107,467,374 (GRCm39)	D82G	probably damaging	Het
Itpkb	T	C	1: 180,161,661 (GRCm39)	S596P	probably damaging	Het
Kcnmb3	A	G	3: 32,546,096 (GRCm39)	V8A	possibly damaging	Het
Lyst	T	G	13: 13,917,918 (GRCm39)	I3326S	probably damaging	Het
Mcm9	G	A	10: 53,414,393 (GRCm39)	T229I	probably damaging	Het
Medag	T	A	5: 149,350,415 (GRCm39)	F21L	probably benign	Het
Mefv	A	T	16: 3,533,315 (GRCm39)	C319S	probably benign	Het
Mettl23	T	A	11: 116,734,593 (GRCm39)	V54D	probably damaging	Het
Mul1	A	G	4: 138,166,543 (GRCm39)	D199G	probably damaging	Het
Ncor1	A	T	11: 62,260,130 (GRCm39)	I266N	probably damaging	Het
Nek10	A	T	14: 14,980,544 (GRCm38)	K967*	probably null	Het
Nrcam	A	G	12: 44,606,483 (GRCm39)	T410A	probably damaging	Het
Or1p1	A	G	11: 74,179,618 (GRCm39)	I49V	possibly damaging	Het
Or2b11	T	C	11: 59,461,874 (GRCm39)	R231G	possibly damaging	Het
Or52d13	C	T	7: 103,109,592 (GRCm39)		silent	Het
Or52e4	T	C	7: 104,705,711 (GRCm39)	I86T	probably damaging	Het
Pate2	A	T	9: 35,581,778 (GRCm39)	D24V	possibly damaging	Het
Plcb3	T	C	19: 6,932,117 (GRCm39)	I1124V	possibly damaging	Het
Ptprc	A	T	1: 138,045,458 (GRCm39)		probably benign	Het
Rab6a	T	C	7: 100,257,378 (GRCm39)		probably benign	Het
Rnf208	G	T	2: 25,133,345 (GRCm39)	W13L	possibly damaging	Het
Rps6kl1	G	T	12: 85,193,675 (GRCm39)	Q139K	possibly damaging	Het
Sdk1	T	A	5: 141,941,879 (GRCm39)	I509N	probably damaging	Het
Sephs1	A	G	2: 4,898,098 (GRCm39)	I170V	probably benign	Het
Slc17a8	C	T	10: 89,442,702 (GRCm39)	D44N	probably benign	Het
Slc23a1	T	A	18: 35,755,349 (GRCm39)	I489F	probably damaging	Het
Slc25a19	A	T	11: 115,507,418 (GRCm39)	Y235N	probably damaging	Het
Slc47a2	A	G	11: 61,233,486 (GRCm39)	V40A	probably benign	Het
Slurp2	C	T	15: 74,614,917 (GRCm39)	V75I	probably benign	Het
Smc1b	A	C	15: 85,005,842 (GRCm39)	M354R	probably benign	Het
Spice1	C	A	16: 44,191,115 (GRCm39)	A323E	possibly damaging	Het
Sptbn2	T	A	19: 4,798,975 (GRCm39)	V2015E	probably damaging	Het
Sptlc2	A	C	12: 87,415,857 (GRCm39)	F57V	probably benign	Het
Srsf1	A	G	11: 87,938,705 (GRCm39)	N14S	possibly damaging	Het
Ssh2	T	A	11: 77,312,192 (GRCm39)	D228E	probably damaging	Het
Synj2	A	G	17: 6,088,390 (GRCm39)	*1480W	probably null	Het
Syt14	A	T	1: 192,613,231 (GRCm39)	M523K	probably damaging	Het
Tff3	A	T	17: 31,348,516 (GRCm39)	V12E	probably benign	Het
Tgm2	C	A	2: 157,969,262 (GRCm39)	C371F	probably damaging	Het
Tmem260	A	C	14: 48,711,501 (GRCm39)	I197L	probably benign	Het
Unc5a	A	G	13: 55,152,747 (GRCm39)	D887G	possibly damaging	Het
Vstm4	G	T	14: 32,641,247 (GRCm39)	A277S	probably benign	Het
Wdtc1	A	T	4: 133,021,702 (GRCm39)		probably null	Het
Zan	A	G	5: 137,466,600 (GRCm39)	F419S	possibly damaging	Het
Zfp317	G	A	9: 19,558,584 (GRCm39)	R266Q	probably damaging	Het
Zfp931	T	A	2: 177,709,595 (GRCm39)	T264S	possibly damaging	Het
Zpld2	T	C	4: 133,920,350 (GRCm39)	K605R	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
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
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'- ATGGTGGCTTGTATCACAGG -3'
(R):5'- TGCAATCTAATATTCCACTTGGCC -3'

Sequencing Primer
(F):5'- GCTTGTATCACAGGCTGTGC -3'
(R):5'- CTGTTTTTCAGGAAGCTGAAGAAATG -3'

Posted On

2016-10-26