Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02152:Aplp2'

282087

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 #

IGL02152

Quality Score

Status

Chromosome

Chromosomal Location

31060853-31123111 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 31122947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 26 (P26L)

Ref Sequence

ENSEMBL: ENSMUSP00000149023 (fasta)

Gene Model

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

AlphaFold

Q06335

Predicted Effect

unknown
Transcript: ENSMUST00000072634
AA Change: P26L

SMART Domains

Protein: ENSMUSP00000072428
Gene: ENSMUSG00000031996
AA Change: P26L

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

unknown
Transcript: ENSMUST00000079758
AA Change: P26L

SMART Domains

Protein: ENSMUSP00000078694
Gene: ENSMUSG00000031996
AA Change: P26L

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

unknown
Transcript: ENSMUST00000213254
AA Change: P26L

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213273

Predicted Effect

unknown
Transcript: ENSMUST00000217641
AA Change: P26L

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	A	G	5: 107,695,983 (GRCm39)	T140A	probably benign	Het
4933430I17Rik	T	C	4: 62,460,991 (GRCm39)	Y289H	possibly damaging	Het
Adamts17	T	A	7: 66,774,748 (GRCm39)	S956T	probably benign	Het
Adamts6	A	T	13: 104,450,168 (GRCm39)	S290C	probably null	Het
Apaf1	A	T	10: 90,897,681 (GRCm39)	H267Q	probably benign	Het
Arid1b	C	T	17: 5,364,243 (GRCm39)	S1019F	probably damaging	Het
Armc3	G	A	2: 19,290,948 (GRCm39)		probably null	Het
Ass1	T	C	2: 31,382,336 (GRCm39)	I169T	probably damaging	Het
Ccser1	A	G	6: 61,288,692 (GRCm39)	D285G	possibly damaging	Het
Cenpf	A	G	1: 189,381,209 (GRCm39)	V2737A	probably benign	Het
Chrm5	A	G	2: 112,310,913 (GRCm39)	Y68H	probably damaging	Het
Cops4	A	G	5: 100,681,456 (GRCm39)	T164A	probably benign	Het
Cox4i1	A	G	8: 121,399,604 (GRCm39)	S72G	probably benign	Het
Cpox	A	G	16: 58,494,787 (GRCm39)	T275A	possibly damaging	Het
Cyb5a	T	C	18: 84,891,281 (GRCm39)	I68T	probably benign	Het
Efna5	T	C	17: 62,958,055 (GRCm39)	D67G	probably benign	Het
Enpp3	T	C	10: 24,649,900 (GRCm39)	E842G	probably damaging	Het
Fam210b	A	G	2: 172,193,423 (GRCm39)	K79E	probably benign	Het
Gm4799	T	C	10: 82,790,589 (GRCm39)		noncoding transcript	Het
Gpr146	A	T	5: 139,378,467 (GRCm39)	R90W	probably damaging	Het
H2ac10	A	G	13: 23,718,451 (GRCm39)	H124R	probably benign	Het
Hal	A	G	10: 93,339,404 (GRCm39)	I498V	possibly damaging	Het
Hnrnpm	C	T	17: 33,877,386 (GRCm39)	G365R	probably damaging	Het
Jakmip3	A	G	7: 138,627,217 (GRCm39)	D407G	probably damaging	Het
Kank1	A	G	19: 25,405,536 (GRCm39)	I1185V	possibly damaging	Het
Kcnj16	A	T	11: 110,916,036 (GRCm39)	M233L	probably benign	Het
Klhl5	A	T	5: 65,306,143 (GRCm39)	Q370L	probably damaging	Het
L3hypdh	C	T	12: 72,123,917 (GRCm39)		probably null	Het
Las1l	A	G	X: 94,996,908 (GRCm39)	V130A	probably damaging	Het
Liat1	A	G	11: 75,894,051 (GRCm39)	I143V	probably benign	Het
Lrp2bp	A	T	8: 46,476,081 (GRCm39)	Y274F	probably damaging	Het
Morc2b	T	A	17: 33,356,917 (GRCm39)	K285M	probably damaging	Het
Mpp3	A	T	11: 101,916,216 (GRCm39)	Y45*	probably null	Het
Muc4	T	A	16: 32,598,023 (GRCm39)		probably benign	Het
Muc5ac	T	C	7: 141,353,914 (GRCm39)	C837R	possibly damaging	Het
Nr2f6	T	A	8: 71,828,810 (GRCm39)	I155F	probably damaging	Het
Nsg1	A	G	5: 38,302,145 (GRCm39)	F50L	probably benign	Het
Or14a258	T	A	7: 86,035,251 (GRCm39)	M206L	probably benign	Het
Ostf1	C	A	19: 18,567,822 (GRCm39)	G101C	probably damaging	Het
Pam	C	T	1: 97,768,474 (GRCm39)	R552Q	probably damaging	Het
Pkd1l3	A	G	8: 110,395,924 (GRCm39)	N2108S	probably damaging	Het
Prkdc	A	T	16: 15,487,149 (GRCm39)	H484L	probably benign	Het
Pwwp3a	A	G	10: 80,075,812 (GRCm39)	D466G	probably damaging	Het
Rfx5	G	A	3: 94,864,493 (GRCm39)	R213Q	probably damaging	Het
Ryr1	T	C	7: 28,751,440 (GRCm39)	S3715G	possibly damaging	Het
Sall2	A	G	14: 52,552,971 (GRCm39)	S73P	probably damaging	Het
Sec22c	G	A	9: 121,513,845 (GRCm39)	A264V	probably benign	Het
Sis	A	C	3: 72,796,319 (GRCm39)		probably benign	Het
Spam1	T	A	6: 24,800,802 (GRCm39)		probably benign	Het
Spmip2	T	C	3: 79,252,839 (GRCm39)	I18T	possibly damaging	Het
St13	T	A	15: 81,250,583 (GRCm39)	I318F	probably damaging	Het
Syne1	T	C	10: 5,374,382 (GRCm39)	I142V	probably damaging	Het
Tasor2	C	T	13: 3,635,371 (GRCm39)	E479K	probably benign	Het
Trpm6	A	T	19: 18,809,903 (GRCm39)	T1100S	possibly damaging	Het
Ttll6	G	A	11: 96,026,366 (GRCm39)	W90*	probably null	Het
Txndc12	T	A	4: 108,691,989 (GRCm39)	C9*	probably null	Het
Ubr7	C	T	12: 102,734,535 (GRCm39)	Q270*	probably null	Het
Vps33b	A	G	7: 79,934,817 (GRCm39)	S302G	probably benign	Het
Xylt1	T	A	7: 117,233,997 (GRCm39)	V508E	probably damaging	Het
Zbtb26	A	T	2: 37,326,703 (GRCm39)	L111Q	possibly damaging	Het
Zfp410	T	C	12: 84,379,702 (GRCm39)		probably benign	Het
Zscan18	A	T	7: 12,509,223 (GRCm39)		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
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
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