Mutagenetix > Incidental Mutation

Incidental Mutation 'R7700:App'

593971

Institutional Source

Beutler Lab

Gene Symbol

App

Ensembl Gene

ENSMUSG00000022892

Gene Name

amyloid beta precursor protein

Synonyms

E030013M08Rik, Adap, betaAPP, Abeta, appican, protease nexin II, Cvap

MMRRC Submission

045761-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.506) question?

Stock #

R7700 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84751236-84972187 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 84837197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154061 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005406] [ENSMUST00000226232] [ENSMUST00000226801] [ENSMUST00000227021] [ENSMUST00000227723] [ENSMUST00000227737]

AlphaFold

P12023

Predicted Effect

probably benign
Transcript: ENSMUST00000005406

SMART Domains

Protein: ENSMUSP00000005406
Gene: ENSMUSG00000022892

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
A4_EXTRA	24	188	5.33e-129	SMART
low complexity region	190	208	N/A	INTRINSIC
Pfam:APP_E2	291	473	2.5e-77	PFAM
Pfam:Beta-APP	600	638	3.4e-28	PFAM
Pfam:APP_amyloid	641	691	8.6e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000226232

Predicted Effect

probably null
Transcript: ENSMUST00000226801

Predicted Effect

probably benign
Transcript: ENSMUST00000227021

Predicted Effect

probably null
Transcript: ENSMUST00000227723

Predicted Effect

probably null
Transcript: ENSMUST00000227737

Meta Mutation Damage Score

0.9485

Coding Region Coverage

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

Validation Efficiency

100% (85/85)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cell surface receptor and transmembrane precursor protein that is cleaved by secretases to form a number of peptides. Some of these peptides are secreted and can bind to the acetyltransferase complex APBB1/TIP60 to promote transcriptional activation, while others form the protein basis of the amyloid plaques found in the brains of patients with Alzheimer disease. In addition, two of the peptides are antimicrobial peptides, having been shown to have bacteriocidal and antifungal activities. Mutations in this gene have been implicated in autosomal dominant Alzheimer disease and cerebroarterial amyloidosis (cerebral amyloid angiopathy). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Aug 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene exhibit reduced body weight, brain weight, size of forebrain commissures, locomotor activity, forelimb grip strength, and spatial learning scores. Many mice also exhibit agenesis of the corpus callosum, and extensive reactive gliosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009A15Rik	T	C	19: 8,867,417 (GRCm39)	L72P	probably benign	Het
4930407I10Rik	C	A	15: 81,948,306 (GRCm39)	H734Q	probably benign	Het
Acadl	A	G	1: 66,877,522 (GRCm39)	V343A	possibly damaging	Het
Acot4	A	T	12: 84,090,011 (GRCm39)	D236V	probably damaging	Het
Arfgef1	G	A	1: 10,264,636 (GRCm39)	T470I	possibly damaging	Het
Arhgef5	T	C	6: 43,251,691 (GRCm39)	I814T	probably benign	Het
Atr	A	T	9: 95,757,743 (GRCm39)	R968*	probably null	Het
Bltp1	T	A	3: 37,028,321 (GRCm39)	N2329K	possibly damaging	Het
Bltp1	C	T	3: 37,080,303 (GRCm39)	S267L	probably benign	Het
Capn7	C	T	14: 31,074,401 (GRCm39)	T268I	probably benign	Het
Ccdc192	A	G	18: 57,696,388 (GRCm39)		probably null	Het
Ccn1	C	T	3: 145,354,447 (GRCm39)	G155R	probably damaging	Het
Csmd2	G	T	4: 128,439,549 (GRCm39)		probably null	Het
Cubn	A	T	2: 13,352,989 (GRCm39)	F1916L	probably benign	Het
Cubn	A	G	2: 13,494,728 (GRCm39)	V107A	possibly damaging	Het
Cyp11b1	T	A	15: 74,707,691 (GRCm39)	T473S	probably damaging	Het
Dip2c	T	G	13: 9,709,347 (GRCm39)	S1396A	probably benign	Het
Dop1b	T	G	16: 93,595,649 (GRCm39)		probably null	Het
Dyrk1b	T	C	7: 27,883,737 (GRCm39)	Y198H	probably damaging	Het
Echdc2	G	T	4: 108,031,274 (GRCm39)	R206L	probably benign	Het
Ep400	C	T	5: 110,843,898 (GRCm39)	R1594Q	unknown	Het
Esyt1	T	A	10: 128,351,723 (GRCm39)		probably benign	Het
Fmnl2	G	A	2: 52,926,520 (GRCm39)	R69Q		Het
Fry	T	A	5: 150,328,792 (GRCm39)	H1308Q	probably damaging	Het
Fyb2	T	A	4: 104,867,651 (GRCm39)	D667E	probably benign	Het
Gimap7	T	A	6: 48,700,791 (GRCm39)	Y126N	possibly damaging	Het
Gm1979	A	T	5: 26,205,178 (GRCm39)	W266R	probably damaging	Het
Gm28042	T	A	2: 119,870,197 (GRCm39)	M712K	possibly damaging	Het
Gm3238	A	G	10: 77,606,469 (GRCm39)	*231R	probably null	Het
Gm5592	C	A	7: 40,935,831 (GRCm39)	A111E	probably damaging	Het
Gm7694	A	G	1: 170,128,717 (GRCm39)	*271Q	probably null	Het
Gm9195	A	C	14: 72,693,342 (GRCm39)		probably null	Het
Ift81	T	C	5: 122,732,623 (GRCm39)	M304V	possibly damaging	Het
Igfals	T	C	17: 25,099,548 (GRCm39)	L213P	probably damaging	Het
Ints3	G	A	3: 90,329,111 (GRCm39)	P83S	probably benign	Het
Kcna10	T	G	3: 107,102,856 (GRCm39)	S496A	probably damaging	Het
Kmt2d	G	A	15: 98,741,600 (GRCm39)	A4520V	unknown	Het
Lemd3	A	T	10: 120,813,995 (GRCm39)	Y413N	probably damaging	Het
Lgr6	T	C	1: 134,923,770 (GRCm39)	N453S	probably damaging	Het
Lmtk3	A	C	7: 45,441,998 (GRCm39)	D352A	probably damaging	Het
Lrrc4c	T	C	2: 97,461,024 (GRCm39)	M550T	possibly damaging	Het
Maml2	A	T	9: 13,532,385 (GRCm39)	Q533L		Het
Mdn1	T	A	4: 32,741,344 (GRCm39)	D3815E	probably damaging	Het
Megf8	C	T	7: 25,029,353 (GRCm39)	A299V	possibly damaging	Het
Meis3	G	T	7: 15,911,481 (GRCm39)	E59D	probably benign	Het
Mppe1	A	G	18: 67,358,775 (GRCm39)	*398R	probably null	Het
Mtmr7	G	A	8: 41,059,927 (GRCm39)	A62V	possibly damaging	Het
Mtus1	T	A	8: 41,537,006 (GRCm39)	T237S	possibly damaging	Het
Ndfip2	T	A	14: 105,525,193 (GRCm39)	V158E	possibly damaging	Het
Nrbp2	T	G	15: 75,962,746 (GRCm39)	T53P	probably damaging	Het
Nrde2	G	A	12: 100,097,094 (GRCm39)	P902L	probably benign	Het
Or10ab5	T	A	7: 108,244,879 (GRCm39)	K301N	probably damaging	Het
Or11g24	T	A	14: 50,662,792 (GRCm39)	M272K	probably benign	Het
Or2y13	A	G	11: 49,415,381 (GRCm39)	Y277C	probably damaging	Het
Or6c202	T	C	10: 128,995,924 (GRCm39)	M310V	probably benign	Het
Pcdha1	A	G	18: 37,064,115 (GRCm39)	T260A	probably damaging	Het
Pdlim1	T	G	19: 40,238,102 (GRCm39)	K98N	probably damaging	Het
Pdxk	A	T	10: 78,279,764 (GRCm39)		probably null	Het
Phrf1	G	A	7: 140,834,842 (GRCm39)	G207R	unknown	Het
Pik3r6	A	G	11: 68,419,389 (GRCm39)	K124R	probably damaging	Het
Polr2b	T	A	5: 77,488,268 (GRCm39)	F823I	probably benign	Het
Prss58	T	C	6: 40,872,322 (GRCm39)	I234V	probably damaging	Het
Ptpn14	A	T	1: 189,597,608 (GRCm39)	N766I	probably benign	Het
Qrfprl	T	A	6: 65,429,940 (GRCm39)	I212N	probably benign	Het
Repin1	T	A	6: 48,574,756 (GRCm39)	S562T	probably damaging	Het
Rgr	C	T	14: 36,766,552 (GRCm39)	D165N	probably damaging	Het
Rho	T	C	6: 115,912,200 (GRCm39)	F221L	probably damaging	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rnase2a	A	G	14: 51,493,248 (GRCm39)	I39T	probably damaging	Het
Rpl13a	T	G	7: 44,776,660 (GRCm39)	I43L	probably benign	Het
Rpp30	T	C	19: 36,066,558 (GRCm39)	V97A	probably benign	Het
Scube3	T	C	17: 28,386,023 (GRCm39)	Y755H	probably damaging	Het
Sec24a	A	T	11: 51,603,084 (GRCm39)	V788E	probably damaging	Het
Spns2	A	T	11: 72,380,443 (GRCm39)	L60*	probably null	Het
Strc	T	C	2: 121,202,229 (GRCm39)	N1213S	possibly damaging	Het
Tec	A	T	5: 72,943,367 (GRCm39)	I116N	possibly damaging	Het
Tll1	A	T	8: 64,546,988 (GRCm39)	D319E	probably benign	Het
Tmem121b	T	C	6: 120,470,388 (GRCm39)	T110A	unknown	Het
Tmem232	T	A	17: 65,572,213 (GRCm39)	I593F	probably damaging	Het
Tpp2	A	G	1: 44,009,626 (GRCm39)	I487V	probably benign	Het
Ubr4	C	A	4: 139,136,178 (GRCm39)	C934*	probably null	Het
Vmn1r68	A	G	7: 10,261,559 (GRCm39)	Y180H	probably benign	Het
Vmn2r25	T	C	6: 123,816,882 (GRCm39)	D233G	possibly damaging	Het
Wdr6	A	G	9: 108,453,560 (GRCm39)	W108R	possibly damaging	Het
Zng1	A	G	19: 24,920,045 (GRCm39)		probably null	Het

Other mutations in App

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00834:App	APN	16	84,762,599 (GRCm39)	missense	probably damaging	0.99
IGL01457:App	APN	16	84,900,127 (GRCm39)	missense	probably damaging	1.00
IGL02016:App	APN	16	84,853,409 (GRCm39)	missense	unknown
IGL02135:App	APN	16	84,876,726 (GRCm39)	critical splice donor site	probably null
IGL02338:App	APN	16	84,970,407 (GRCm39)	missense	probably benign	0.01
IGL02377:App	APN	16	84,879,719 (GRCm39)	missense	probably benign	0.07
IGL02516:App	APN	16	84,752,305 (GRCm39)	missense	probably damaging	1.00
IGL02565:App	APN	16	84,822,308 (GRCm39)	splice site	probably null
IGL03179:App	APN	16	84,879,735 (GRCm39)	missense	probably damaging	1.00
BB005:App	UTSW	16	84,775,134 (GRCm39)	missense	probably benign	0.05
BB015:App	UTSW	16	84,775,134 (GRCm39)	missense	probably benign	0.05
LCD18:App	UTSW	16	84,822,300 (GRCm39)	splice site	probably benign
R0349:App	UTSW	16	84,810,568 (GRCm39)	missense	probably damaging	1.00
R0440:App	UTSW	16	84,853,302 (GRCm39)	nonsense	probably null
R0515:App	UTSW	16	84,900,232 (GRCm39)	splice site	probably benign
R0730:App	UTSW	16	84,876,840 (GRCm39)	missense	probably damaging	0.98
R1609:App	UTSW	16	84,876,837 (GRCm39)	missense	probably damaging	0.97
R1703:App	UTSW	16	84,762,656 (GRCm39)	missense	probably damaging	1.00
R2516:App	UTSW	16	84,775,117 (GRCm39)	missense	probably damaging	0.97
R4366:App	UTSW	16	84,853,321 (GRCm39)	missense	unknown
R4735:App	UTSW	16	84,900,202 (GRCm39)	missense	probably damaging	0.99
R4849:App	UTSW	16	84,853,322 (GRCm39)	missense	unknown
R4851:App	UTSW	16	84,853,322 (GRCm39)	missense	unknown
R6254:App	UTSW	16	84,775,065 (GRCm39)	missense	probably damaging	1.00
R6489:App	UTSW	16	84,853,408 (GRCm39)	missense	unknown
R6796:App	UTSW	16	84,917,455 (GRCm39)	missense	probably damaging	0.98
R7132:App	UTSW	16	84,853,370 (GRCm39)	missense	unknown
R7194:App	UTSW	16	84,822,319 (GRCm39)	missense	probably benign	0.40
R7456:App	UTSW	16	84,970,448 (GRCm39)
R7528:App	UTSW	16	84,775,146 (GRCm39)	missense	possibly damaging	0.89
R7594:App	UTSW	16	84,876,890 (GRCm39)	missense	unknown
R7699:App	UTSW	16	84,837,197 (GRCm39)	critical splice acceptor site	probably null
R7928:App	UTSW	16	84,775,134 (GRCm39)	missense	probably benign	0.05
R8086:App	UTSW	16	84,917,428 (GRCm39)	missense	unknown
R8346:App	UTSW	16	84,900,145 (GRCm39)	missense	unknown
R8506:App	UTSW	16	84,879,704 (GRCm39)	missense	unknown
R8902:App	UTSW	16	84,876,767 (GRCm39)	missense	unknown
R9142:App	UTSW	16	84,900,127 (GRCm39)	missense	probably damaging	1.00
R9244:App	UTSW	16	84,759,629 (GRCm39)	missense	probably damaging	0.99
R9477:App	UTSW	16	84,853,392 (GRCm39)	missense	unknown
Z1176:App	UTSW	16	84,821,805 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTTCCTGGTCAATAATCACAC -3'
(R):5'- TCCTGTCAGTGGCAGAATGG -3'

Sequencing Primer
(F):5'- GTTCCTGGTCAATAATCACACAAAAC -3'
(R):5'- GGGCAGCAATTTCACAATACTG -3'

Posted On

2019-11-12