Mutagenetix > Incidental Mutation

Incidental Mutation 'R7456:App'

578164

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

045530-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.506) question?

Stock #

R7456 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84751236-84972187 bp(-) (GRCm39)

Type of Mutation

DNA Base Change (assembly)

G to A at 84970448 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s):

AlphaFold

P12023

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer2	A	G	4: 86,792,748 (GRCm39)	D8G	possibly damaging	Het
Angpt4	T	C	2: 151,780,987 (GRCm39)	Y412H	probably damaging	Het
Ankef1	A	G	2: 136,387,734 (GRCm39)	D217G	probably benign	Het
Ano2	A	T	6: 125,940,508 (GRCm39)	I544F	probably benign	Het
Arhgef26	A	G	3: 62,247,476 (GRCm39)	T187A	probably benign	Het
Axin1	T	A	17: 26,362,139 (GRCm39)	V161E	probably damaging	Het
Bbs7	A	T	3: 36,648,527 (GRCm39)	V407D	probably damaging	Het
C1qtnf3	A	T	15: 10,972,137 (GRCm39)	E141V	probably benign	Het
C2	A	G	17: 35,083,558 (GRCm39)	I469T	probably damaging	Het
Cc2d1a	A	G	8: 84,866,868 (GRCm39)		probably null	Het
Cd226	A	T	18: 89,224,747 (GRCm39)	I10F	probably damaging	Het
Cep295nl	T	C	11: 118,224,376 (GRCm39)	K156R	possibly damaging	Het
Cfap20dc	A	T	14: 8,442,933 (GRCm38)	L612*	probably null	Het
Cfap44	A	G	16: 44,252,305 (GRCm39)	T805A	probably benign	Het
Chd9	G	T	8: 91,659,153 (GRCm39)	E38*	probably null	Het
Cldnd2	C	T	7: 43,091,109 (GRCm39)	L14F	not run	Het
Cyp11b2	T	C	15: 74,725,379 (GRCm39)	T247A	probably benign	Het
Dennd11	T	G	6: 40,383,774 (GRCm39)	M423L	probably benign	Het
Dsc1	T	C	18: 20,219,879 (GRCm39)	S764G	probably benign	Het
Dsg3	A	T	18: 20,664,420 (GRCm39)	T473S	probably benign	Het
Fam193a	A	T	5: 34,578,132 (GRCm39)	I209F	possibly damaging	Het
Foxs1	T	C	2: 152,775,045 (GRCm39)	K3E	probably benign	Het
Gabrr3	C	T	16: 59,227,853 (GRCm39)	Q37*	probably null	Het
Gcm2	A	T	13: 41,256,751 (GRCm39)	W333R	probably benign	Het
Gcn1	C	T	5: 115,743,005 (GRCm39)	Q1559*	probably null	Het
Gfm2	A	T	13: 97,282,211 (GRCm39)	K69*	probably null	Het
Gm14295	T	G	2: 176,500,943 (GRCm39)	C144W	possibly damaging	Het
Gm32742	G	A	9: 51,071,270 (GRCm39)	T5I	probably damaging	Het
Gm5093	T	C	17: 46,750,679 (GRCm39)	D116G	probably damaging	Het
Gsn	A	T	2: 35,172,718 (GRCm39)	K3N	possibly damaging	Het
H2-M2	C	T	17: 37,792,552 (GRCm39)	D240N	possibly damaging	Het
Habp2	G	C	19: 56,307,957 (GRCm39)	G482R	probably damaging	Het
Hnrnpm	A	T	17: 33,865,622 (GRCm39)	Y680N	possibly damaging	Het
Hrc	T	A	7: 44,986,320 (GRCm39)	D490E	possibly damaging	Het
Impg2	A	G	16: 56,080,276 (GRCm39)	I693M	probably benign	Het
Itga7	A	G	10: 128,777,805 (GRCm39)	Y262C	probably damaging	Het
Kif1c	A	G	11: 70,619,424 (GRCm39)	T1020A	probably benign	Het
Kif23	T	C	9: 61,844,402 (GRCm39)	I139V	probably benign	Het
Klk1b5	A	G	7: 43,500,255 (GRCm39)	E281G	probably benign	Het
Kpna4	A	G	3: 69,000,181 (GRCm39)	V275A	probably damaging	Het
Lamb2	C	A	9: 108,362,979 (GRCm39)	D787E	possibly damaging	Het
Ldlrad3	A	C	2: 101,785,270 (GRCm39)	V235G	probably damaging	Het
Maneal	A	G	4: 124,750,767 (GRCm39)	S330P	probably damaging	Het
Maz	G	A	7: 126,625,489 (GRCm39)	Q35*	probably null	Het
Mthfd1l	C	T	10: 4,039,998 (GRCm39)	T803M	probably damaging	Het
Muc5ac	A	G	7: 141,346,904 (GRCm39)	Q325R	probably benign	Het
Myo3a	C	A	2: 22,412,255 (GRCm39)	A758E	probably benign	Het
Ndufb7	A	G	8: 84,293,482 (GRCm39)	D12G	probably benign	Het
Nsun2	T	A	13: 69,781,725 (GRCm39)	C677S	probably damaging	Het
Obscn	A	G	11: 58,899,384 (GRCm39)	F6471S	probably benign	Het
Or4c106	A	T	2: 88,682,563 (GRCm39)	I90F	probably damaging	Het
Or51k1	A	G	7: 103,661,045 (GRCm39)	V288A	possibly damaging	Het
Or7g32	T	C	9: 19,408,844 (GRCm39)	S267P	probably damaging	Het
Otof	T	C	5: 30,552,005 (GRCm39)	D313G	probably damaging	Het
Paqr5	T	C	9: 61,880,072 (GRCm39)	D74G	probably benign	Het
Pigq	A	G	17: 26,153,580 (GRCm39)	V365A	unknown	Het
Podn	A	T	4: 107,875,002 (GRCm39)	N588K	probably benign	Het
Polr3b	G	A	10: 84,458,355 (GRCm39)	G9R	probably benign	Het
Proser1	A	G	3: 53,385,939 (GRCm39)	H607R	probably damaging	Het
Ryr2	C	T	13: 11,767,168 (GRCm39)	V1241I	probably benign	Het
Sar1b	G	A	11: 51,682,181 (GRCm39)	A170T	probably benign	Het
Slc22a17	T	C	14: 55,149,716 (GRCm39)	T191A	probably benign	Het
Slc35f3	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 127,115,779 (GRCm39)		unknown	Het
Slco6d1	A	T	1: 98,349,082 (GRCm39)	D51V	possibly damaging	Het
Snx16	G	A	3: 10,500,541 (GRCm39)	R143*	probably null	Het
Sytl2	T	A	7: 89,998,055 (GRCm39)	L19Q	probably damaging	Het
Tmcc3	A	G	10: 94,418,174 (GRCm39)	E345G	possibly damaging	Het
Ttn	C	T	2: 76,555,998 (GRCm39)	A30336T	probably damaging	Het
Vmn1r44	A	G	6: 89,870,401 (GRCm39)	D49G	probably benign	Het
Vps35l	C	T	7: 118,403,340 (GRCm39)	P628S	probably benign	Het
Vps41	T	A	13: 19,048,204 (GRCm39)	D801E	probably benign	Het
Wif1	G	A	10: 120,932,554 (GRCm39)	E311K	probably benign	Het
Zfp513	G	T	5: 31,357,759 (GRCm39)	R207S	possibly damaging	Het
Zfp52	C	A	17: 21,781,615 (GRCm39)	H488N	probably damaging	Het
Zfp738	A	G	13: 67,817,619 (GRCm39)	Y791H	probably damaging	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
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
R7700: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

Posted On

2019-10-07