Mutagenetix > Incidental Mutations

Incidental Mutation 'R7707:Aplp1'

594344

Institutional Source

Beutler Lab

Gene Symbol

Aplp1

Ensembl Gene

ENSMUSG00000006651

Gene Name

amyloid beta (A4) precursor-like protein 1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7707 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30434982-30445535 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30443098 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 140 (C140S)

Ref Sequence

ENSEMBL: ENSMUSP00000006828 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006828] [ENSMUST00000045817]

Predicted Effect

probably damaging
Transcript: ENSMUST00000006828
AA Change: C140S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000006828
Gene: ENSMUSG00000006651
AA Change: C140S

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

probably benign
Transcript: ENSMUST00000045817

SMART Domains

Protein: ENSMUSP00000039395
Gene: ENSMUSG00000036915

Domain	Start	End	E-Value	Type
IG	27	117	9.18e-12	SMART
IG	128	219	5.13e-1	SMART
IG_like	230	306	8.06e0	SMART
IGc2	321	379	3.06e-8	SMART
IG_like	401	500	4.65e1	SMART
transmembrane domain	509	531	N/A	INTRINSIC
low complexity region	547	565	N/A	INTRINSIC
low complexity region	607	629	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170152

SMART Domains

Protein: ENSMUSP00000132652
Gene: ENSMUSG00000036915

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	82	104	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (72/73)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610044O15Rik8	A	T	8: 129,219,179	C388*	probably null	Het
2900026A02Rik	T	A	5: 113,137,986	M1L	probably benign	Het
Ap1s3	T	C	1: 79,614,247	K129E	probably benign	Het
Ap3b2	C	T	7: 81,476,782	V357I	possibly damaging	Het
Arhgef1	G	A	7: 24,916,881	D317N	probably damaging	Het
Asb4	A	G	6: 5,430,968	H401R	probably benign	Het
Bpi	A	T	2: 158,261,173	E79D	probably benign	Het
Cant1	C	T	11: 118,410,898	V198M	possibly damaging	Het
Casp9	C	T	4: 141,805,467	R225C	probably benign	Het
Ccdc88b	C	A	19: 6,857,469	R82L	probably benign	Het
Chrm4	A	G	2: 91,927,354	T36A	probably benign	Het
Cntln	A	T	4: 84,884,616	D51V	probably damaging	Het
Commd8	A	T	5: 72,162,738	F120Y	probably damaging	Het
Cpne6	A	C	14: 55,516,314	T410P	probably damaging	Het
Ctnnb1	A	T	9: 120,952,865	I315F	possibly damaging	Het
Dnah9	A	G	11: 66,118,958	V701A	probably damaging	Het
Efcab9	A	G	11: 32,522,851	Y199H	possibly damaging	Het
Endou	T	A	15: 97,713,102		probably null	Het
Fam160a1	A	G	3: 85,676,253	V412A	probably benign	Het
Foxc2	C	T	8: 121,117,902	P430S	probably benign	Het
Gas2l3	T	A	10: 89,414,358	K299N	probably damaging	Het
Gm10375	G	A	14: 43,604,875	Q133*	probably null	Het
Gorab	T	C	1: 163,392,440	D211G	probably damaging	Het
Grin3b	T	A	10: 79,975,901	S747T	possibly damaging	Het
Gucd1	C	A	10: 75,511,286		probably benign	Het
Gucy2d	T	C	7: 98,451,669	F400L	possibly damaging	Het
Hivep3	G	A	4: 119,733,959	V55M		Het
Igsf3	A	G	3: 101,459,922	N1157S	probably benign	Het
Irak3	A	T	10: 120,146,584	D324E	probably damaging	Het
Jup	G	T	11: 100,383,052	A221D	possibly damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,436,913		probably benign	Het
Lgr4	A	G	2: 109,997,591		probably null	Het
Lrrc34	T	C	3: 30,624,892	D352G	probably benign	Het
Metrn	C	A	17: 25,795,410	A175S	probably benign	Het
Nr2c1	T	A	10: 94,188,165	S411T	probably benign	Het
Olfr1206	A	G	2: 88,864,809	D68G	possibly damaging	Het
Olfr190	T	A	16: 59,074,271	I270F	possibly damaging	Het
Orc3	T	A	4: 34,598,691	K172*	probably null	Het
Oxnad1	A	G	14: 32,102,008		probably null	Het
Pcdh7	A	G	5: 57,720,330	N409S	probably damaging	Het
Pcdha11	A	T	18: 37,011,792	N312I	probably benign	Het
Pds5a	G	T	5: 65,610,133	P121Q	unknown	Het
Phc1	A	G	6: 122,323,780	I380T	unknown	Het
Phldb3	C	A	7: 24,626,597	H535N	possibly damaging	Het
Proser3	T	C	7: 30,539,791	Q600R	probably benign	Het
Ptprz1	A	G	6: 23,002,296	M1462V	probably benign	Het
Pyroxd2	T	C	19: 42,738,147	T243A	probably damaging	Het
Ralgapa1	C	A	12: 55,777,292	D268Y	probably null	Het
Rapgef5	A	C	12: 117,715,344	Y419S	probably damaging	Het
Rbm24	C	A	13: 46,429,129	Q175K	possibly damaging	Het
Robo4	A	T	9: 37,413,122	D982V	probably damaging	Het
Sbf2	T	C	7: 110,330,713		probably null	Het
Serping1	A	T	2: 84,773,699		probably null	Het
Shank1	C	T	7: 44,344,301	S798F	unknown	Het
Slc15a5	A	T	6: 138,079,747	M57K	probably damaging	Het
Slc35g1	T	A	19: 38,403,123	C284*	probably null	Het
Src	G	A	2: 157,464,658	D194N	probably damaging	Het
Srfbp1	A	G	18: 52,483,654	T84A	probably damaging	Het
Sspo	A	T	6: 48,461,527	T1510S	probably benign	Het
Taar1	A	T	10: 23,921,237	I278F	possibly damaging	Het
Taf1a	T	C	1: 183,404,429	Y281H	possibly damaging	Het
Thbs3	A	T	3: 89,224,900	Y798F	possibly damaging	Het
Tnpo1	T	C	13: 98,890,787	T7A	probably benign	Het
Traf7	A	T	17: 24,510,709		probably null	Het
Trbv19	G	A	6: 41,178,613	V9I	possibly damaging	Het
Trim17	C	T	11: 58,965,284	Q56*	probably null	Het
Ttn	G	T	2: 76,902,062	A4643E	unknown	Het
Ugt2b36	A	G	5: 87,081,508		probably null	Het
Uso1	A	G	5: 92,201,936	*960W	probably null	Het
Usp2	G	T	9: 44,073,460		probably null	Het
Wdr20rt	A	G	12: 65,226,207	D148G	probably damaging	Het
Wdr66	A	T	5: 123,253,887	E28V	probably benign	Het
Wif1	T	C	10: 121,083,959	F204L	probably damaging	Het
Wwp1	T	C	4: 19,627,645	D750G	probably benign	Het
Zmynd12	A	T	4: 119,444,866	D234V	probably damaging	Het

Other mutations in Aplp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01340:Aplp1	APN	7	30444418	missense	probably damaging	0.97
R0021:Aplp1	UTSW	7	30435816	splice site	probably benign
R0021:Aplp1	UTSW	7	30435816	splice site	probably benign
R0034:Aplp1	UTSW	7	30444442	missense	probably damaging	1.00
R1480:Aplp1	UTSW	7	30436023	missense	probably benign	0.01
R1538:Aplp1	UTSW	7	30436027	missense	probably benign
R2177:Aplp1	UTSW	7	30442521	nonsense	probably null
R3017:Aplp1	UTSW	7	30435971	critical splice donor site	probably null
R5143:Aplp1	UTSW	7	30441123	missense	probably damaging	1.00
R5465:Aplp1	UTSW	7	30436852	missense	probably benign
R5482:Aplp1	UTSW	7	30440175	missense	probably damaging	1.00
R5530:Aplp1	UTSW	7	30436829	missense	possibly damaging	0.70
R6112:Aplp1	UTSW	7	30435477	missense	probably damaging	1.00
R6721:Aplp1	UTSW	7	30440295	missense	probably null	1.00
R6931:Aplp1	UTSW	7	30443200	missense	probably damaging	1.00
R7314:Aplp1	UTSW	7	30435989	missense	probably damaging	0.98
R7980:Aplp1	UTSW	7	30435567	missense	probably benign	0.44
R8005:Aplp1	UTSW	7	30436045	critical splice acceptor site	probably null
R8126:Aplp1	UTSW	7	30441739	missense	probably damaging	1.00
Z1177:Aplp1	UTSW	7	30438189	missense	probably benign	0.44
Z1177:Aplp1	UTSW	7	30438279	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACTCACGAATTCGCCAGCTG -3'
(R):5'- GTCCTTAGGAACCAAGACACG -3'

Sequencing Primer
(F):5'- AATGGGAGACACCAGAATCATC -3'
(R):5'- ACAAGGCTCTGGGTTCAATC -3'

Posted On

2019-11-12