Mutagenetix > Incidental Mutation

Incidental Mutation 'R6112:Aplp1'

484903

Institutional Source

Beutler Lab

Gene Symbol

Aplp1

Ensembl Gene

ENSMUSG00000006651

Gene Name

amyloid beta precursor like protein 1

Synonyms

MMRRC Submission

044261-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6112 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30134407-30144960 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30134902 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 622 (E622G)

Ref Sequence

ENSEMBL: ENSMUSP00000006828 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006828]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000006828
AA Change: E622G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000006828
Gene: ENSMUSG00000006651
AA Change: E622G

Domain	Start	End	E-Value	Type
signal peptide	1	38	N/A	INTRINSIC
A4_EXTRA	46	211	1.72e-114	SMART
low complexity region	234	247	N/A	INTRINSIC
low complexity region	259	277	N/A	INTRINSIC
Pfam:APP_E2	289	471	9.3e-72	PFAM
Pfam:APP_amyloid	600	651	9.4e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207514

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207662

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208404

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208792

Meta Mutation Damage Score

0.4569

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

98% (54/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the highly conserved amyloid precursor protein gene family. The encoded protein is a membrane-associated glycoprotein that is cleaved by secretases in a manner similar to amyloid beta A4 precursor protein cleavage. This cleavage liberates an intracellular cytoplasmic fragment that may act as a transcriptional activator. The encoded protein may also play a role in synaptic maturation during cortical development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Animals homozygous for a mutation in this gene show a 10% decrease in body weight at 9 weeks of age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	A	G	16: 14,278,780 (GRCm39)	Y1030C	probably damaging	Het
Adh5	G	T	3: 138,157,029 (GRCm39)	V197F	probably damaging	Het
Ankmy1	A	T	1: 92,798,684 (GRCm39)	F936I	probably damaging	Het
Aoc1	A	T	6: 48,885,625 (GRCm39)	D710V	probably damaging	Het
Arhgap20	T	C	9: 51,740,684 (GRCm39)	Y219H	probably damaging	Het
Bag3	A	G	7: 128,143,556 (GRCm39)	D184G	probably damaging	Het
Cacna1g	C	T	11: 94,300,072 (GRCm39)	A2216T	probably damaging	Het
Cbarp	T	C	10: 79,971,205 (GRCm39)		probably null	Het
Cep250	C	A	2: 155,836,503 (GRCm39)	L2211I	possibly damaging	Het
Cfap65	A	G	1: 74,942,298 (GRCm39)	I1752T	probably benign	Het
Col4a4	A	G	1: 82,431,604 (GRCm39)	V1560A	unknown	Het
Dapk3	A	T	10: 81,019,864 (GRCm39)	Q6L	probably benign	Het
Dctn5	A	G	7: 121,732,460 (GRCm39)		probably benign	Het
Eef1akmt1	A	T	14: 57,787,330 (GRCm39)	I182N	possibly damaging	Het
Eef1g	T	C	19: 8,954,955 (GRCm39)	F346S	probably damaging	Het
Erap1	G	T	13: 74,794,398 (GRCm39)	W19L	probably benign	Het
Gm10801	A	G	2: 98,494,409 (GRCm39)	H162R	probably benign	Het
Gpm6a	G	A	8: 55,507,845 (GRCm39)	A194T	probably benign	Het
Grip1	C	A	10: 119,829,137 (GRCm39)	N32K	probably benign	Het
Hmcn1	A	G	1: 150,494,687 (GRCm39)	I4134T	probably damaging	Het
Hspa14	G	A	2: 3,499,105 (GRCm39)	H230Y	probably benign	Het
Ift172	T	C	5: 31,414,241 (GRCm39)	T1435A	probably benign	Het
Igsf3	T	A	3: 101,358,322 (GRCm39)	Y738N	probably damaging	Het
Lcor	T	C	19: 41,547,520 (GRCm39)	V368A	possibly damaging	Het
Lmna	C	A	3: 88,393,928 (GRCm39)	E217*	probably null	Het
Lrp1b	C	T	2: 41,231,894 (GRCm39)	G337E	probably benign	Het
Maf1	A	G	15: 76,236,312 (GRCm39)		probably benign	Het
Magi1	T	C	6: 93,722,571 (GRCm39)	I436V	probably damaging	Het
Muc4	C	T	16: 32,596,157 (GRCm39)	T3123I	possibly damaging	Het
Muc5b	T	A	7: 141,417,042 (GRCm39)	H3329Q	probably benign	Het
Noa1	C	T	5: 77,457,593 (GRCm39)	R104Q	probably benign	Het
Odc1	T	G	12: 17,599,473 (GRCm39)	S267A	probably benign	Het
Or5p60	T	A	7: 107,724,369 (GRCm39)	I34F	probably benign	Het
Pam	A	G	1: 97,762,193 (GRCm39)	Y691H	probably damaging	Het
Pamr1	T	C	2: 102,441,953 (GRCm39)	Y181H	probably damaging	Het
Pcdhga2	T	A	18: 37,802,612 (GRCm39)	I152N	probably damaging	Het
Pigt	C	T	2: 164,348,365 (GRCm39)	Q437*	probably null	Het
Prx	T	C	7: 27,215,973 (GRCm39)	L158P	probably damaging	Het
Ptprh	T	A	7: 4,600,922 (GRCm39)	T152S	probably benign	Het
Pum1	G	A	4: 130,457,591 (GRCm39)	R201H	probably damaging	Het
Rad51ap2	T	C	12: 11,507,290 (GRCm39)	I404T	probably benign	Het
Radil	C	T	5: 142,529,399 (GRCm39)	R99H	probably damaging	Het
Rc3h2	C	T	2: 37,268,899 (GRCm39)	V856I	possibly damaging	Het
Slx4ip	T	A	2: 136,888,664 (GRCm39)	V115E	probably damaging	Het
Snx3	C	A	10: 42,402,042 (GRCm39)	S85R	probably benign	Het
Sppl2c	A	T	11: 104,077,963 (GRCm39)	E254D	probably benign	Het
Srms	C	A	2: 180,849,780 (GRCm39)	E237*	probably null	Het
Tenm1	C	T	X: 41,916,072 (GRCm39)	G404E	probably damaging	Het
Trank1	T	C	9: 111,220,805 (GRCm39)	L2514P	probably damaging	Het
Trib1	C	T	15: 59,523,487 (GRCm39)	R174*	probably null	Het
Usp4	A	G	9: 108,233,703 (GRCm39)	Y108C	probably damaging	Het
Vmn2r60	A	T	7: 41,844,847 (GRCm39)	I737F	probably damaging	Het
Zfp600	A	T	4: 146,131,701 (GRCm39)	H123L	probably benign	Het
Zfp646	G	T	7: 127,478,190 (GRCm39)	R122S	possibly damaging	Het
Znfx1	A	G	2: 166,880,126 (GRCm39)	Y553H	probably benign	Het

Other mutations in Aplp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01340:Aplp1	APN	7	30,143,843 (GRCm39)	missense	probably damaging	0.97
R0021:Aplp1	UTSW	7	30,135,241 (GRCm39)	splice site	probably benign
R0021:Aplp1	UTSW	7	30,135,241 (GRCm39)	splice site	probably benign
R0034:Aplp1	UTSW	7	30,143,867 (GRCm39)	missense	probably damaging	1.00
R1480:Aplp1	UTSW	7	30,135,448 (GRCm39)	missense	probably benign	0.01
R1538:Aplp1	UTSW	7	30,135,452 (GRCm39)	missense	probably benign
R2177:Aplp1	UTSW	7	30,141,946 (GRCm39)	nonsense	probably null
R3017:Aplp1	UTSW	7	30,135,396 (GRCm39)	critical splice donor site	probably null
R5143:Aplp1	UTSW	7	30,140,548 (GRCm39)	missense	probably damaging	1.00
R5465:Aplp1	UTSW	7	30,136,277 (GRCm39)	missense	probably benign
R5482:Aplp1	UTSW	7	30,139,600 (GRCm39)	missense	probably damaging	1.00
R5530:Aplp1	UTSW	7	30,136,254 (GRCm39)	missense	possibly damaging	0.70
R6721:Aplp1	UTSW	7	30,139,720 (GRCm39)	missense	probably null	1.00
R6931:Aplp1	UTSW	7	30,142,625 (GRCm39)	missense	probably damaging	1.00
R7314:Aplp1	UTSW	7	30,135,414 (GRCm39)	missense	probably damaging	0.98
R7707:Aplp1	UTSW	7	30,142,523 (GRCm39)	missense	probably damaging	1.00
R7980:Aplp1	UTSW	7	30,134,992 (GRCm39)	missense	probably benign	0.44
R8005:Aplp1	UTSW	7	30,135,470 (GRCm39)	critical splice acceptor site	probably null
R8126:Aplp1	UTSW	7	30,141,164 (GRCm39)	missense	probably damaging	1.00
R9159:Aplp1	UTSW	7	30,141,775 (GRCm39)	missense	probably benign	0.26
Z1177:Aplp1	UTSW	7	30,137,704 (GRCm39)	critical splice acceptor site	probably null
Z1177:Aplp1	UTSW	7	30,137,614 (GRCm39)	missense	probably benign	0.44

Predicted Primers

PCR Primer
(F):5'- TTCTTCCAGGAAGCGGTAGG -3'
(R):5'- CAGGCTGTAACCTCCAAAGC -3'

Sequencing Primer
(F):5'- GTGGGGTTCTCATAGCCATGC -3'
(R):5'- GTGAGCCTCAAAGATACTCTTGGTC -3'

Posted On

2017-08-16