Mutagenetix > Incidental Mutation

Incidental Mutation 'R7584:Aplp2'

586973

Institutional Source

Beutler Lab

Gene Symbol

Aplp2

Ensembl Gene

ENSMUSG00000031996

Gene Name

amyloid beta precursor-like protein 2

Synonyms

MMRRC Submission

045667-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7584 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31060853-31123111 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31069077 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 584 (V584E)

Ref Sequence

ENSEMBL: ENSMUSP00000072428 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072634] [ENSMUST00000079758] [ENSMUST00000213254] [ENSMUST00000217641]

AlphaFold

Q06335

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072634
AA Change: V584E

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000072428
Gene: ENSMUSG00000031996
AA Change: V584E

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
A4_EXTRA	42	204	7.91e-123	SMART
low complexity region	218	232	N/A	INTRINSIC
coiled coil region	242	269	N/A	INTRINSIC
KU	308	361	3.52e-24	SMART
Pfam:APP_E2	365	547	1.6e-71	PFAM
low complexity region	555	568	N/A	INTRINSIC
low complexity region	589	595	N/A	INTRINSIC
low complexity region	597	609	N/A	INTRINSIC
Pfam:APP_amyloid	697	747	1.5e-27	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079758
AA Change: V528E

PolyPhen 2 Score 0.703 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000078694
Gene: ENSMUSG00000031996
AA Change: V528E

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
A4_EXTRA	42	204	7.91e-123	SMART
low complexity region	218	232	N/A	INTRINSIC
coiled coil region	242	269	N/A	INTRINSIC
Pfam:APP_E2	307	492	2.3e-75	PFAM
low complexity region	499	512	N/A	INTRINSIC
low complexity region	533	539	N/A	INTRINSIC
low complexity region	541	553	N/A	INTRINSIC
Pfam:APP_amyloid	652	703	1.5e-32	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213254
AA Change: V584E

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000217641
AA Change: V528E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (74/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes amyloid precursor- like protein 2 (APLP2), which is a member of the APP (amyloid precursor protein) family including APP, APLP1 and APLP2. This protein is ubiquitously expressed. It contains heparin-, copper- and zinc- binding domains at the N-terminus, BPTI/Kunitz inhibitor and E2 domains in the middle region, and transmembrane and intracellular domains at the C-terminus. This protein interacts with major histocompatibility complex (MHC) class I molecules. The synergy of this protein and the APP is required to mediate neuromuscular transmission, spatial learning and synaptic plasticity. This protein has been implicated in the pathogenesis of Alzheimer's disease. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygotes for two different targeted alleles show embryonic lethality, or viability and fertility with increased copper levels in cerebral cortex and liver. Double knockouts with App show high mortality, reduced growth, and neurological symptoms. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	G	17: 46,626,304 (GRCm39)		probably null	Het
Actrt3	T	C	3: 30,652,356 (GRCm39)	K246R	probably benign	Het
Adam23	T	A	1: 63,584,621 (GRCm39)	V343D	probably damaging	Het
Ak2	T	C	4: 128,893,005 (GRCm39)	S55P	probably damaging	Het
Ank2	G	A	3: 126,739,777 (GRCm39)	Q2036*	probably null	Het
Ano10	A	G	9: 122,104,597 (GRCm39)	I40T	probably benign	Het
Aoc2	T	A	11: 101,217,005 (GRCm39)	C363S	possibly damaging	Het
Arhgap32	A	T	9: 32,168,263 (GRCm39)	T749S	probably benign	Het
Atm	A	T	9: 53,424,427 (GRCm39)	F625I	probably damaging	Het
Atr	T	C	9: 95,824,766 (GRCm39)	L2387P	probably damaging	Het
Barhl1	C	T	2: 28,799,803 (GRCm39)	G274D	probably damaging	Het
Bcl2a1a	A	T	9: 88,839,345 (GRCm39)	D81V	probably damaging	Het
Ccdc63	T	G	5: 122,251,267 (GRCm39)	D381A	possibly damaging	Het
Col12a1	A	G	9: 79,610,578 (GRCm39)		probably null	Het
Crat	C	T	2: 30,294,577 (GRCm39)	R497Q	probably benign	Het
Cyp4b1	T	A	4: 115,485,884 (GRCm39)	D351V	probably damaging	Het
D130043K22Rik	A	G	13: 25,056,353 (GRCm39)	S562G	probably damaging	Het
Dgkb	T	A	12: 38,189,391 (GRCm39)		probably null	Het
Dmbt1	C	T	7: 130,690,481 (GRCm39)	Q905*	probably null	Het
Dnajc21	A	C	15: 10,462,381 (GRCm39)	Y81*	probably null	Het
Dnali1	T	C	4: 124,959,331 (GRCm39)	T21A	probably benign	Het
Dpp8	A	T	9: 64,986,064 (GRCm39)	L851F	probably damaging	Het
Dpt	T	C	1: 164,646,477 (GRCm39)	Y149H	probably benign	Het
Ep300	T	C	15: 81,512,627 (GRCm39)	V983A	unknown	Het
Faf1	C	T	4: 109,783,154 (GRCm39)	R549C	probably damaging	Het
Gcm1	A	G	9: 77,971,749 (GRCm39)	N230S	possibly damaging	Het
Gm10803	T	A	2: 93,394,513 (GRCm39)	I95N	probably damaging	Het
Hectd4	T	A	5: 121,456,798 (GRCm39)	I721N	possibly damaging	Het
Hsp90ab1	T	C	17: 45,881,197 (GRCm39)	H315R	probably damaging	Het
Igkv10-95	T	A	6: 68,657,740 (GRCm39)	S85R	possibly damaging	Het
Katnip	G	T	7: 125,469,838 (GRCm39)	V1436L	probably damaging	Het
Kcnq5	T	C	1: 21,472,545 (GRCm39)	T901A	probably benign	Het
Kremen1	C	T	11: 5,144,964 (GRCm39)	V471M	possibly damaging	Het
Lama2	C	A	10: 26,980,257 (GRCm39)	D1853Y	possibly damaging	Het
Lrif1	A	G	3: 106,639,217 (GRCm39)	T76A	probably benign	Het
Lrrtm2	T	A	18: 35,345,818 (GRCm39)	I495F	possibly damaging	Het
Ltbr	G	T	6: 125,284,204 (GRCm39)	Q413K	probably benign	Het
Ms4a20	A	G	19: 11,087,725 (GRCm39)	F69L	possibly damaging	Het
Myrfl	T	A	10: 116,664,902 (GRCm39)	Y376F	probably damaging	Het
Nup50l	A	C	6: 96,142,373 (GRCm39)	L224V	probably benign	Het
Nup98	G	T	7: 101,825,596 (GRCm39)	N414K	probably benign	Het
Nynrin	A	G	14: 56,109,041 (GRCm39)	T1383A	probably damaging	Het
Or4c15	G	A	2: 88,760,149 (GRCm39)	P170L	probably damaging	Het
Or5j1	A	T	2: 86,879,478 (GRCm39)	I34N	probably benign	Het
Or6c208	T	A	10: 129,223,901 (GRCm39)	I133N	probably damaging	Het
Or7g27	C	A	9: 19,250,569 (GRCm39)	T271K	possibly damaging	Het
Or8b1d	G	T	9: 38,558,191 (GRCm39)	P210T	possibly damaging	Het
Pcdhb5	T	A	18: 37,455,425 (GRCm39)	S602T	possibly damaging	Het
Sall3	A	G	18: 81,017,745 (GRCm39)	F61S	probably benign	Het
Scube1	G	T	15: 83,606,088 (GRCm39)	C61*	probably null	Het
Sec31b	T	C	19: 44,519,995 (GRCm39)		probably null	Het
Sec31b	T	C	19: 44,531,762 (GRCm39)	D49G	probably damaging	Het
Skic2	A	G	17: 35,060,651 (GRCm39)	I822T	possibly damaging	Het
Slc19a3	C	T	1: 83,000,469 (GRCm39)	V183M	possibly damaging	Het
Slc41a2	T	C	10: 83,152,653 (GRCm39)		probably benign	Het
Sphk2	C	A	7: 45,361,931 (GRCm39)	V169L	probably damaging	Het
Synpo	C	A	18: 60,729,349 (GRCm39)	R951L	probably damaging	Het
Tbc1d9b	G	A	11: 50,061,543 (GRCm39)	C1017Y	probably damaging	Het
Tmtc4	C	A	14: 123,215,563 (GRCm39)	V28F	probably benign	Het
Tprkb	A	G	6: 85,905,809 (GRCm39)	I165V	probably benign	Het
Ttc23l	T	A	15: 10,533,794 (GRCm39)	I250F	probably damaging	Het
Tut4	T	C	4: 108,336,543 (GRCm39)	V89A	probably benign	Het
Ubr3	G	A	2: 69,821,847 (GRCm39)	V1370I	probably damaging	Het
Ush2a	A	G	1: 188,460,306 (GRCm39)		probably null	Het
Usp9y	T	C	Y: 1,384,451 (GRCm39)	Y689C	probably damaging	Het
Vmn1r56	A	T	7: 5,198,895 (GRCm39)	Y241N	probably damaging	Het
Vmn2r6	T	C	3: 64,472,683 (GRCm39)	T13A	probably benign	Het
Vmn2r92	T	A	17: 18,387,028 (GRCm39)	N122K	probably benign	Het
Vps9d1	A	G	8: 123,977,456 (GRCm39)	F131S	probably damaging	Het
Vwa8	A	C	14: 79,219,674 (GRCm39)		probably null	Het
Wfdc16	A	T	2: 164,480,547 (GRCm39)		probably null	Het
Zbtb41	T	A	1: 139,351,795 (GRCm39)	Y303N	probably benign	Het
Zbtb5	T	C	4: 44,993,678 (GRCm39)	T569A	probably benign	Het
Zfp111	A	G	7: 23,898,025 (GRCm39)	S530P	possibly damaging	Het

Other mutations in Aplp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02067:Aplp2	APN	9	31,062,191 (GRCm39)	missense	probably damaging	1.00
IGL02152:Aplp2	APN	9	31,122,947 (GRCm39)	missense	unknown
IGL02309:Aplp2	APN	9	31,078,979 (GRCm39)	missense	possibly damaging	0.80
IGL02407:Aplp2	APN	9	31,069,823 (GRCm39)	nonsense	probably null
IGL02623:Aplp2	APN	9	31,089,379 (GRCm39)	splice site	probably benign
IGL02737:Aplp2	APN	9	31,064,712 (GRCm39)	missense	probably benign
IGL02958:Aplp2	APN	9	31,075,972 (GRCm39)	splice site	probably benign
R0211:Aplp2	UTSW	9	31,069,086 (GRCm39)	missense	probably damaging	0.99
R0279:Aplp2	UTSW	9	31,069,086 (GRCm39)	missense	probably damaging	0.99
R1669:Aplp2	UTSW	9	31,079,029 (GRCm39)	intron	probably benign
R1707:Aplp2	UTSW	9	31,062,215 (GRCm39)	missense	probably damaging	1.00
R1755:Aplp2	UTSW	9	31,088,400 (GRCm39)	missense	probably damaging	1.00
R2512:Aplp2	UTSW	9	31,078,973 (GRCm39)	missense	probably damaging	1.00
R2842:Aplp2	UTSW	9	31,069,122 (GRCm39)	missense	probably benign	0.12
R4031:Aplp2	UTSW	9	31,069,026 (GRCm39)	missense	probably benign	0.00
R4115:Aplp2	UTSW	9	31,069,122 (GRCm39)	missense	probably benign	0.12
R5725:Aplp2	UTSW	9	31,069,110 (GRCm39)	missense	probably damaging	1.00
R6032:Aplp2	UTSW	9	31,062,240 (GRCm39)	missense	probably damaging	1.00
R6032:Aplp2	UTSW	9	31,062,240 (GRCm39)	missense	probably damaging	1.00
R6375:Aplp2	UTSW	9	31,069,084 (GRCm39)	missense	probably benign	0.00
R7170:Aplp2	UTSW	9	31,081,739 (GRCm39)	missense	probably benign	0.03
R7541:Aplp2	UTSW	9	31,063,652 (GRCm39)	missense	possibly damaging	0.82
R7711:Aplp2	UTSW	9	31,072,645 (GRCm39)	missense	probably damaging	1.00
R8092:Aplp2	UTSW	9	31,074,640 (GRCm39)	critical splice donor site	probably null
R8367:Aplp2	UTSW	9	31,089,202 (GRCm39)	missense	probably damaging	1.00
R9343:Aplp2	UTSW	9	31,122,935 (GRCm39)	missense	unknown
R9400:Aplp2	UTSW	9	31,075,855 (GRCm39)	missense	possibly damaging	0.89
R9711:Aplp2	UTSW	9	31,083,303 (GRCm39)	missense	probably benign	0.05
Z1187:Aplp2	UTSW	9	31,063,637 (GRCm39)	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- ACCTCCCTAGTGCAATCAGG -3'
(R):5'- CCTATAAAGTCAGGCAGTAGGC -3'

Sequencing Primer
(F):5'- CTCCCTAGTGCAATCAGGTTTGAAG -3'
(R):5'- GCTCTTGCCAGGTCTTAGGTC -3'

Posted On

2019-10-24