Mutagenetix > Incidental Mutation

Incidental Mutation 'R4948:Appbp2'

383599

Institutional Source

Beutler Lab

Gene Symbol

Appbp2

Ensembl Gene

ENSMUSG00000018481

Gene Name

amyloid beta precursor protein binding protein 2

Synonyms

1300003O07Rik, PAT1

MMRRC Submission

042545-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.743) question?

Stock #

R4948 (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: 99.1%
3x: 98.4%
10x: 96.3%
20x: 92.2%

Validation Efficiency

94% (103/109)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	A	T	16: 16,936,154 (GRCm39)		probably null	Het
Adcy4	C	T	14: 56,016,486 (GRCm39)	D322N	probably damaging	Het
Alas1	A	T	9: 106,124,077 (GRCm39)	L27*	probably null	Het
Aldh1a7	A	G	19: 20,704,374 (GRCm39)	V40A	possibly damaging	Het
B3gnt5	A	C	16: 19,587,894 (GRCm39)	M38L	probably benign	Het
Brd8	A	G	18: 34,747,585 (GRCm39)	V92A	probably damaging	Het
Btla	A	T	16: 45,063,091 (GRCm39)	E151D	probably benign	Het
Cd79b	T	A	11: 106,203,687 (GRCm39)	T67S	probably benign	Het
Cep192	A	G	18: 67,949,875 (GRCm39)	R320G	probably benign	Het
Chad	A	C	11: 94,456,528 (GRCm39)	D202A	probably damaging	Het
Chil6	A	G	3: 106,295,988 (GRCm39)		probably benign	Het
Cpz	T	C	5: 35,674,748 (GRCm39)	E167G	possibly damaging	Het
Crisp2	T	G	17: 41,076,159 (GRCm39)	H225P	probably damaging	Het
Cyp2c23	T	C	19: 44,010,138 (GRCm39)	Y69C	possibly damaging	Het
Dcp1a	T	A	14: 30,201,724 (GRCm39)	L49H	probably damaging	Het
Dnah6	T	A	6: 73,030,672 (GRCm39)	H3380L	probably benign	Het
Dnai3	T	A	3: 145,788,820 (GRCm39)	K254*	probably null	Het
Dnm2	A	G	9: 21,415,829 (GRCm39)	D721G	possibly damaging	Het
Dnpep	G	T	1: 75,293,404 (GRCm39)	T15K	probably benign	Het
Dock3	A	T	9: 106,868,354 (GRCm39)	D643E	probably damaging	Het
Ear6	C	T	14: 52,091,573 (GRCm39)	T40I	possibly damaging	Het
Fancm	A	G	12: 65,137,748 (GRCm39)	D313G	probably damaging	Het
Fbxw16	T	A	9: 109,267,415 (GRCm39)	E272V	probably damaging	Het
Frmd4b	T	A	6: 97,283,691 (GRCm39)	E393D	probably benign	Het
Fryl	T	A	5: 73,246,473 (GRCm39)	M1100L	probably benign	Het
Gjd3	T	C	11: 102,691,247 (GRCm39)	H252R	probably damaging	Het
Gm10518	T	C	1: 179,631,477 (GRCm39)		probably benign	Het
Gna14	A	G	19: 16,580,656 (GRCm39)	M165V	probably benign	Het
Hells	C	A	19: 38,923,966 (GRCm39)	Q72K	probably damaging	Het
Herc1	A	G	9: 66,392,184 (GRCm39)	I4031V	probably benign	Het
Hspa2	C	T	12: 76,452,761 (GRCm39)	A485V	probably damaging	Het
Ighv1-54	T	A	12: 115,157,438 (GRCm39)	I70F	probably benign	Het
Il20rb	A	T	9: 100,343,592 (GRCm39)		probably benign	Het
Irag1	A	G	7: 110,487,236 (GRCm39)	V498A	probably damaging	Het
Krt1	C	A	15: 101,754,376 (GRCm39)	V625L	unknown	Het
Lamc3	T	C	2: 31,830,748 (GRCm39)	I1495T	probably benign	Het
Larp6	A	G	9: 60,645,063 (GRCm39)	E401G	possibly damaging	Het
Ldha	A	T	7: 46,496,805 (GRCm39)	H19L	probably benign	Het
Lrba	A	G	3: 86,192,335 (GRCm39)	N83S	probably damaging	Het
Lrp4	G	T	2: 91,316,231 (GRCm39)	R783L	probably benign	Het
Lrrk2	T	G	15: 91,687,592 (GRCm39)	I2227S	probably benign	Het
Lvrn	T	C	18: 47,013,803 (GRCm39)	L495P	probably damaging	Het
Macf1	T	C	4: 123,391,548 (GRCm39)	N1077S	probably damaging	Het
Mboat1	A	G	13: 30,425,213 (GRCm39)	T425A	probably damaging	Het
Mcam	A	G	9: 44,047,863 (GRCm39)	E36G	probably damaging	Het
Meis1	T	A	11: 18,966,308 (GRCm39)	T22S	probably benign	Het
Micu1	A	G	10: 59,699,076 (GRCm39)	K451R	possibly damaging	Het
Nat8	A	T	6: 85,807,505 (GRCm39)	D209E	probably benign	Het
Nek10	T	A	14: 14,860,986 (GRCm38)	L513M	possibly damaging	Het
Nmral1	G	A	16: 4,534,274 (GRCm39)	R56*	probably null	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Or10j27	A	G	1: 172,958,526 (GRCm39)	V86A	probably benign	Het
Or5b99	A	T	19: 12,977,195 (GRCm39)	T282S	probably benign	Het
Or5g25	T	C	2: 85,477,916 (GRCm39)	I250V	probably benign	Het
Or5h24	G	A	16: 58,919,340 (GRCm39)	T5I	probably damaging	Het
Palm3	A	T	8: 84,753,708 (GRCm39)	R132*	probably null	Het
Pax2	A	G	19: 44,804,479 (GRCm39)	Y272C	probably damaging	Het
Phc2	G	A	4: 128,616,908 (GRCm39)	A394T	probably benign	Het
Phf2	C	A	13: 48,961,198 (GRCm39)	G831C	unknown	Het
Pik3c2b	G	A	1: 133,027,453 (GRCm39)		probably null	Het
Plin2	T	A	4: 86,580,228 (GRCm39)	I178F	probably benign	Het
Pramel32	A	T	4: 88,547,185 (GRCm39)	L162H	probably damaging	Het
Prdm14	T	A	1: 13,192,855 (GRCm39)	I295F	probably damaging	Het
Psmd5	C	T	2: 34,760,795 (GRCm39)	R47H	probably benign	Het
Ptchd3	T	A	11: 121,733,342 (GRCm39)	I744K	probably damaging	Het
Ptrh1	T	A	2: 32,666,557 (GRCm39)		probably benign	Het
Rab6a	A	G	7: 100,277,627 (GRCm39)	D49G	probably damaging	Het
Radil	A	T	5: 142,470,994 (GRCm39)	D1062E	probably benign	Het
Robo2	A	G	16: 74,149,726 (GRCm39)	V34A	possibly damaging	Het
Sall3	G	A	18: 81,014,626 (GRCm39)	P1029S	probably benign	Het
Sec14l3	A	G	11: 4,018,101 (GRCm39)	D127G	possibly damaging	Het
Sel1l2	A	G	2: 140,086,086 (GRCm39)	Y502H	probably damaging	Het
Serpina1f	A	G	12: 103,656,010 (GRCm39)	V406A	probably damaging	Het
Sf3b3	T	C	8: 111,540,301 (GRCm39)	D1040G	probably damaging	Het
Sgcd	A	G	11: 46,870,262 (GRCm39)	I233T	possibly damaging	Het
Slc15a3	A	G	19: 10,820,410 (GRCm39)	Q9R	probably benign	Het
Slc25a46	A	G	18: 31,716,336 (GRCm39)	F389L	probably damaging	Het
Slc26a2	G	T	18: 61,331,330 (GRCm39)	C700*	probably null	Het
Slc4a7	A	G	14: 14,771,283 (GRCm38)	Y671C	possibly damaging	Het
Slc5a10	A	T	11: 61,610,708 (GRCm39)	I22N	probably damaging	Het
Slc5a9	C	A	4: 111,748,941 (GRCm39)		probably null	Het
Slc6a12	A	G	6: 121,332,281 (GRCm39)	D205G	probably benign	Het
Tas2r115	G	A	6: 132,714,124 (GRCm39)	H276Y	probably damaging	Het
Tdpoz4	T	A	3: 93,704,318 (GRCm39)	I205N	probably damaging	Het
Tfeb	C	T	17: 48,096,904 (GRCm39)	T33I	probably benign	Het
Tgm3	A	G	2: 129,890,240 (GRCm39)	T668A	probably benign	Het
Tnpo3	A	G	6: 29,582,259 (GRCm39)	V201A	probably benign	Het
Tpcn1	T	A	5: 120,694,596 (GRCm39)	M158L	probably benign	Het
Trim47	A	C	11: 115,996,918 (GRCm39)	L612R	probably damaging	Het
Trmt10c	A	T	16: 55,854,438 (GRCm39)	L399*	probably null	Het
Trpm2	A	T	10: 77,753,626 (GRCm39)	S1293T	probably benign	Het
Ttn	C	T	2: 76,582,941 (GRCm39)	V22651I	probably damaging	Het
Tubgcp5	A	G	7: 55,455,871 (GRCm39)	I300V	probably benign	Het
Uty	T	A	Y: 1,136,883 (GRCm39)	Q844L	probably damaging	Het
Vmn2r85	C	T	10: 130,254,990 (GRCm39)	E565K	probably damaging	Het
Vmn2r97	T	C	17: 19,167,561 (GRCm39)	V605A	possibly damaging	Het
Vwa3a	T	C	7: 120,375,487 (GRCm39)	V399A	probably damaging	Het
Wnk4	G	A	11: 101,159,107 (GRCm39)	R508Q	probably damaging	Het
Zfp217	A	G	2: 169,961,130 (GRCm39)	V399A	probably damaging	Het
Zfp616	T	A	11: 73,974,830 (GRCm39)	N457K	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
R4574:Appbp2	UTSW	11	85,100,764 (GRCm39)	critical splice donor site	probably null
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'- ATGGTGGCTTGTATCACAGG -3'
(R):5'- GCAATCTAATATTCCACTTGGCC -3'

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

Posted On

2016-04-27