Mutagenetix > Incidental Mutation

Incidental Mutation 'R1669:Aplp2'

187459

Institutional Source

Beutler Lab

Gene Symbol

Aplp2

Ensembl Gene

ENSMUSG00000031996

Gene Name

amyloid beta precursor-like protein 2

Synonyms

MMRRC Submission

039705-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1669 (G1)

Quality Score

180

Status

Validated

Chromosome

Chromosomal Location

31060853-31123111 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to T at 31079029 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149023 (fasta)

Gene Model

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

AlphaFold

Q06335

Predicted Effect

probably benign
Transcript: ENSMUST00000072634

SMART Domains

Protein: ENSMUSP00000072428
Gene: ENSMUSG00000031996

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

probably benign
Transcript: ENSMUST00000079758

SMART Domains

Protein: ENSMUSP00000078694
Gene: ENSMUSG00000031996

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

probably benign
Transcript: ENSMUST00000213254

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214908

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217516

Predicted Effect

probably benign
Transcript: ENSMUST00000217641

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.3%

Validation Efficiency

99% (85/86)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano10	A	C	9: 122,086,249 (GRCm39)	L258R	possibly damaging	Het
Ap3d1	A	G	10: 80,546,670 (GRCm39)		probably benign	Het
Arhgap11a	T	C	2: 113,672,257 (GRCm39)	D237G	possibly damaging	Het
Arhgef4	A	T	1: 34,771,239 (GRCm39)	H1182L	possibly damaging	Het
Ash1l	G	A	3: 88,974,549 (GRCm39)		probably null	Het
Bicdl1	C	A	5: 115,794,075 (GRCm39)	V224L	possibly damaging	Het
Cacna1h	C	A	17: 25,602,445 (GRCm39)	V1422L	probably damaging	Het
Card10	T	C	15: 78,678,153 (GRCm39)	E365G	probably benign	Het
Cd180	C	T	13: 102,841,998 (GRCm39)	T348I	probably damaging	Het
Cds2	T	A	2: 132,137,439 (GRCm39)		probably null	Het
Chaf1a	C	A	17: 56,370,339 (GRCm39)	D601E	probably benign	Het
Coprs	C	T	8: 13,935,704 (GRCm39)	W12*	probably null	Het
Cpsf3	T	A	12: 21,355,332 (GRCm39)	M424K	probably damaging	Het
Cxcl13	T	A	5: 96,106,600 (GRCm39)	N57K	probably damaging	Het
Dact1	C	T	12: 71,365,547 (GRCm39)	T776M	probably damaging	Het
Depdc1a	A	G	3: 159,228,561 (GRCm39)	K438E	probably benign	Het
Dop1b	T	A	16: 93,566,548 (GRCm39)	S992T	probably damaging	Het
Dusp11	A	T	6: 85,927,008 (GRCm39)	H202Q	probably benign	Het
Ezr	T	C	17: 7,006,712 (GRCm39)	E584G	probably damaging	Het
F830104G03Rik	A	G	3: 56,797,998 (GRCm39)	V6A	unknown	Het
Fam227a	G	A	15: 79,504,878 (GRCm39)		probably null	Het
Gapvd1	T	G	2: 34,620,694 (GRCm39)		probably null	Het
Gm10267	T	C	18: 44,290,367 (GRCm39)	R47G	probably damaging	Het
Hectd3	T	A	4: 116,856,840 (GRCm39)	D462E	probably damaging	Het
Hfe	A	T	13: 23,890,110 (GRCm39)	L133*	probably null	Het
Hpcal4	T	C	4: 123,082,869 (GRCm39)	F72L	probably damaging	Het
Itgb4	G	A	11: 115,882,156 (GRCm39)	R825H	probably benign	Het
Kcnh8	T	A	17: 53,200,996 (GRCm39)	Y477N	probably damaging	Het
Kctd1	T	C	18: 15,195,517 (GRCm39)	N369D	possibly damaging	Het
Kdm1b	C	T	13: 47,222,024 (GRCm39)	R488C	probably damaging	Het
Kif1c	C	T	11: 70,619,223 (GRCm39)	L953F	probably damaging	Het
Klra8	A	T	6: 130,092,592 (GRCm39)	C236*	probably null	Het
Lca5l	T	C	16: 95,961,008 (GRCm39)	R485G	possibly damaging	Het
Lrrc2	A	G	9: 110,810,718 (GRCm39)	T363A	probably damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Lyst	G	A	13: 13,818,672 (GRCm39)	G1314D	possibly damaging	Het
Mmp10	A	T	9: 7,505,526 (GRCm39)		probably null	Het
Mmp13	A	G	9: 7,277,926 (GRCm39)	D273G	probably benign	Het
Morc2a	G	A	11: 3,625,885 (GRCm39)	V162M	probably benign	Het
Msh4	C	T	3: 153,582,357 (GRCm39)	R417Q	possibly damaging	Het
Nedd9	A	T	13: 41,465,270 (GRCm39)	V790E	probably damaging	Het
Nlgn1	C	A	3: 25,490,298 (GRCm39)	L476F	probably damaging	Het
Nox4	C	A	7: 86,945,097 (GRCm39)	Q118K	probably benign	Het
Nxf1	A	G	19: 8,749,495 (GRCm39)	T131A	possibly damaging	Het
Oog3	C	A	4: 143,885,008 (GRCm39)	R309S	probably benign	Het
Oosp3	C	T	19: 11,678,378 (GRCm39)		probably benign	Het
Or10a3	T	A	7: 108,479,920 (GRCm39)	T298S	probably benign	Het
Or2a7	T	A	6: 43,151,755 (GRCm39)	S278R	probably damaging	Het
Or2w6	A	T	13: 21,843,456 (GRCm39)	S12R	possibly damaging	Het
Or4c126	T	A	2: 89,824,144 (GRCm39)		probably null	Het
Or51a42	A	T	7: 103,708,516 (GRCm39)	S98T	probably benign	Het
Or5b97	A	T	19: 12,878,652 (GRCm39)	I164K	possibly damaging	Het
P2ry6	A	G	7: 100,587,630 (GRCm39)	V243A	probably damaging	Het
Pgc	C	A	17: 48,044,715 (GRCm39)	P321T	probably damaging	Het
Pramel22	T	G	4: 143,380,916 (GRCm39)	E369A	possibly damaging	Het
Prkd1	G	A	12: 50,441,709 (GRCm39)	H277Y	probably damaging	Het
Prkdc	T	A	16: 15,551,922 (GRCm39)	S2043T	probably damaging	Het
Rasal3	T	C	17: 32,622,072 (GRCm39)	N96D	possibly damaging	Het
Rnf4	T	C	5: 34,508,624 (GRCm39)	F162S	probably damaging	Het
Ros1	A	T	10: 52,037,907 (GRCm39)	N421K	probably damaging	Het
Rtn4rl1	A	G	11: 75,156,753 (GRCm39)	D395G	probably benign	Het
Scn8a	T	G	15: 100,909,001 (GRCm39)	V823G	probably damaging	Het
Sema3d	T	A	5: 12,558,051 (GRCm39)		probably benign	Het
Slc12a2	T	C	18: 58,037,307 (GRCm39)	I501T	probably damaging	Het
Slc12a7	C	T	13: 73,943,232 (GRCm39)	T382I	probably benign	Het
Slc16a12	T	A	19: 34,657,781 (GRCm39)	I41L	probably benign	Het
Slc1a1	C	A	19: 28,889,194 (GRCm39)	T489K	probably benign	Het
Slc24a3	C	T	2: 145,455,512 (GRCm39)	P467L	probably damaging	Het
Slco1a8	T	A	6: 141,933,415 (GRCm39)	I457F	probably benign	Het
Snai2	A	T	16: 14,524,908 (GRCm39)	Y138F	possibly damaging	Het
Sorcs1	A	C	19: 50,463,860 (GRCm39)	Y197D	probably damaging	Het
Sppl2a	T	A	2: 126,759,714 (GRCm39)		probably benign	Het
Srgap3	G	A	6: 112,699,865 (GRCm39)	P1038S	probably benign	Het
Ttn	T	C	2: 76,554,807 (GRCm39)	E30699G	probably damaging	Het
Vmn2r124	T	A	17: 18,283,206 (GRCm39)	M300K	possibly damaging	Het
Vwf	T	C	6: 125,624,869 (GRCm39)	S1873P	possibly damaging	Het
Wrap73	A	G	4: 154,240,588 (GRCm39)	D360G	probably damaging	Het
Zfp366	T	C	13: 99,366,069 (GRCm39)	M410T	probably damaging	Het
Zfp608	C	T	18: 55,120,811 (GRCm39)	V259I	probably benign	Het
Zfp69	C	T	4: 120,804,695 (GRCm39)		probably benign	Het
Zfp995	T	C	17: 22,098,945 (GRCm39)	T430A	probably benign	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
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
R7584:Aplp2	UTSW	9	31,069,077 (GRCm39)	missense	possibly damaging	0.56
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'- ATGCAGTCACAAGGACAGCCAG -3'
(R):5'- TGTGCAGACCACAAGTGTGAGG -3'

Sequencing Primer
(F):5'- CAAGGCGGGACTTACTCATC -3'
(R):5'- AGAAGATCCTTTATGTCAGCCTGTG -3'

Posted On

2014-05-09