Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02407:Aplp2'

292123

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aplp2

Ensembl Gene

ENSMUSG00000031996

Gene Name

amyloid beta precursor-like protein 2

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02407

Quality Score

Status

Chromosome

Chromosomal Location

31060853-31123111 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 31069823 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 496 (Y496*)

Ref Sequence

ENSEMBL: ENSMUSP00000149023 (fasta)

Gene Model

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

AlphaFold

Q06335

Predicted Effect

probably null
Transcript: ENSMUST00000072634
AA Change: Y552*

SMART Domains

Protein: ENSMUSP00000072428
Gene: ENSMUSG00000031996
AA Change: Y552*

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 null
Transcript: ENSMUST00000079758
AA Change: Y496*

SMART Domains

Protein: ENSMUSP00000078694
Gene: ENSMUSG00000031996
AA Change: Y496*

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 null
Transcript: ENSMUST00000213254
AA Change: Y552*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214396

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216921

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217516

Predicted Effect

probably null
Transcript: ENSMUST00000217641
AA Change: Y496*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217658

Coding Region Coverage

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	G	A	6: 121,645,575 (GRCm39)	W1040*	probably null	Het
Adgrv1	C	A	13: 81,627,789 (GRCm39)	A3691S	probably damaging	Het
Als2cl	T	A	9: 110,718,295 (GRCm39)	Y345*	probably null	Het
Ash1l	T	C	3: 88,979,855 (GRCm39)	V2793A	probably damaging	Het
Bfsp1	A	T	2: 143,668,853 (GRCm39)	D575E	probably benign	Het
Ceacam20	G	T	7: 19,704,332 (GRCm39)	V128F	probably benign	Het
Cers4	A	T	8: 4,570,306 (GRCm39)	K204*	probably null	Het
Cog1	T	C	11: 113,544,852 (GRCm39)	Y345H	probably benign	Het
Col14a1	T	C	15: 55,312,272 (GRCm39)		probably benign	Het
Col19a1	A	T	1: 24,351,453 (GRCm39)		probably null	Het
Ctnnd2	T	A	15: 30,966,914 (GRCm39)	M955K	probably damaging	Het
Cyp3a16	A	T	5: 145,388,652 (GRCm39)	M275K	probably damaging	Het
Degs2	T	G	12: 108,658,254 (GRCm39)	T242P	probably damaging	Het
Elac2	T	C	11: 64,890,001 (GRCm39)	V612A	probably benign	Het
Elovl6	T	A	3: 129,398,733 (GRCm39)	F45I	probably damaging	Het
Exoc1	A	C	5: 76,693,193 (GRCm39)	N360H	probably damaging	Het
Fam221b	A	T	4: 43,666,309 (GRCm39)	S101T	possibly damaging	Het
Garre1	A	T	7: 33,955,909 (GRCm39)	N393K	probably damaging	Het
Glyr1	A	G	16: 4,854,812 (GRCm39)	F89L	probably benign	Het
Herc4	C	A	10: 63,142,203 (GRCm39)	T668K	probably damaging	Het
Hibadh	C	T	6: 52,525,874 (GRCm39)	V259I	possibly damaging	Het
Hp1bp3	T	A	4: 137,967,983 (GRCm39)	D397E	probably damaging	Het
Ift80	G	T	3: 68,805,869 (GRCm39)	D724E	probably benign	Het
Igkv3-10	T	C	6: 70,550,223 (GRCm39)		probably benign	Het
Irf9	G	T	14: 55,842,678 (GRCm39)	A75S	possibly damaging	Het
Kif13a	C	T	13: 46,938,769 (GRCm39)	V76M	probably damaging	Het
Krt4	T	C	15: 101,829,740 (GRCm39)	I263V	probably benign	Het
Lgals8	A	G	13: 12,469,699 (GRCm39)	W87R	probably benign	Het
Mccc2	G	A	13: 100,127,816 (GRCm39)	P96L	probably damaging	Het
Megf11	A	C	9: 64,587,531 (GRCm39)	D443A	probably damaging	Het
Nckap5l	T	C	15: 99,321,008 (GRCm39)		probably benign	Het
Ndor1	A	G	2: 25,139,281 (GRCm39)	V230A	probably benign	Het
Nif3l1	G	T	1: 58,496,956 (GRCm39)	V294L	possibly damaging	Het
Or4k39	T	A	2: 111,238,923 (GRCm39)		noncoding transcript	Het
Pcdhb13	T	A	18: 37,576,128 (GRCm39)	Y169N	probably damaging	Het
Peg3	A	G	7: 6,710,635 (GRCm39)	I1529T	probably damaging	Het
Piezo2	T	A	18: 63,279,915 (GRCm39)	I219F	probably damaging	Het
Prpf38a	G	A	4: 108,424,836 (GRCm39)	R242W	unknown	Het
Prrc2a	A	T	17: 35,379,480 (GRCm39)	D255E	unknown	Het
Rapgef6	G	T	11: 54,567,181 (GRCm39)	D1121Y	possibly damaging	Het
Ryr3	T	A	2: 112,585,303 (GRCm39)	H2761L	probably damaging	Het
Sel1l	A	T	12: 91,810,042 (GRCm39)		probably benign	Het
Slc30a9	A	G	5: 67,510,065 (GRCm39)	D539G	probably damaging	Het
Slc38a9	A	G	13: 112,826,777 (GRCm39)	S172G	probably benign	Het
Slfn2	C	A	11: 82,960,402 (GRCm39)	T127K	probably benign	Het
Smurf1	A	T	5: 144,821,534 (GRCm39)	M496K	probably damaging	Het
Srgap2	A	T	1: 131,247,340 (GRCm39)	V564D	probably damaging	Het
Stk32a	T	C	18: 43,430,576 (GRCm39)	I162T	probably benign	Het
Tchhl1	A	T	3: 93,378,634 (GRCm39)	N446I	possibly damaging	Het
Tmem64	T	A	4: 15,266,584 (GRCm39)	H211Q	probably damaging	Het
Trim3	T	C	7: 105,262,218 (GRCm39)	N586S	probably benign	Het
Trpm1	A	G	7: 63,868,869 (GRCm39)	E507G	probably damaging	Het
Tyk2	G	T	9: 21,020,523 (GRCm39)		probably benign	Het
Ugt3a1	A	T	15: 9,365,316 (GRCm39)	K310*	probably null	Het
Unc13a	T	A	8: 72,101,586 (GRCm39)	N1022Y	probably damaging	Het
Vmn1r172	A	T	7: 23,359,228 (GRCm39)	N38Y	probably damaging	Het
Vmn2r100	A	T	17: 19,741,770 (GRCm39)	I161F	probably damaging	Het
Zcchc17	A	G	4: 130,243,108 (GRCm39)	M25T	probably benign	Het
Zfp563	G	A	17: 33,323,795 (GRCm39)	R130Q	probably benign	Het
Zhx2	A	G	15: 57,686,802 (GRCm39)	S724G	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
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
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

Posted On

2015-04-16