Mutagenetix > Incidental Mutation

Incidental Mutation 'R7132:App'

552774

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

045217-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.557) question?

Stock #

R7132 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84751236-84972187 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84853370 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 236 (D236G)

Ref Sequence

ENSEMBL: ENSMUSP00000005406 (fasta)

Gene Model

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

AlphaFold

P12023

Predicted Effect

unknown
Transcript: ENSMUST00000005406
AA Change: D236G

SMART Domains

Protein: ENSMUSP00000005406
Gene: ENSMUSG00000022892
AA Change: D236G

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

unknown
Transcript: ENSMUST00000226232
AA Change: D236G

Predicted Effect

unknown
Transcript: ENSMUST00000226801
AA Change: D236G

Predicted Effect

unknown
Transcript: ENSMUST00000227021
AA Change: D236G

Predicted Effect

unknown
Transcript: ENSMUST00000227723
AA Change: D236G

Predicted Effect

unknown
Transcript: ENSMUST00000227737
AA Change: D236G

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	C	T	10: 69,825,744 (GRCm39)	A1471V		Het
Ankrd12	C	A	17: 66,290,242 (GRCm39)	M1730I	probably benign	Het
Ap2a2	T	C	7: 141,199,478 (GRCm39)	Y462H	probably benign	Het
Ap5b1	T	A	19: 5,619,412 (GRCm39)	Y277*	probably null	Het
Arid2	A	T	15: 96,247,894 (GRCm39)	K102I	possibly damaging	Het
Asl	A	G	5: 130,043,543 (GRCm39)	V211A	possibly damaging	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Cbx2	A	G	11: 118,913,947 (GRCm39)	S5G	probably benign	Het
Ccdc183	A	G	2: 25,506,542 (GRCm39)		probably null	Het
Cd72	T	C	4: 43,452,444 (GRCm39)	Q183R	possibly damaging	Het
Cdh26	T	A	2: 178,128,555 (GRCm39)	D702E	possibly damaging	Het
Cfap61	A	T	2: 145,951,870 (GRCm39)	N784I	probably damaging	Het
Cgrrf1	G	A	14: 47,091,321 (GRCm39)	V282M	probably damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Cobll1	T	G	2: 64,964,112 (GRCm39)	K170Q	probably damaging	Het
Copg2	A	T	6: 30,792,931 (GRCm39)	V468D	probably benign	Het
Cracr2b	C	T	7: 141,043,651 (GRCm39)	A84V	probably benign	Het
Cyp2f2	A	T	7: 26,831,993 (GRCm39)	D416V	probably benign	Het
Dcaf10	T	C	4: 45,342,391 (GRCm39)	F75S	probably benign	Het
Eml3	G	T	19: 8,918,392 (GRCm39)	A829S	probably benign	Het
Entpd3	A	G	9: 120,390,086 (GRCm39)	T402A	probably benign	Het
Fer1l4	A	T	2: 155,887,546 (GRCm39)	V550E	probably damaging	Het
Fgb	G	A	3: 82,954,053 (GRCm39)	R62*	probably null	Het
Fubp1	T	A	3: 151,937,661 (GRCm39)		probably null	Het
Gdf3	A	C	6: 122,583,283 (GRCm39)	D361E	probably damaging	Het
Gm6685	A	T	11: 28,289,330 (GRCm39)	I162N	probably damaging	Het
Hmx2	A	G	7: 131,157,645 (GRCm39)	Y253C	probably damaging	Het
Ints2	G	T	11: 86,108,580 (GRCm39)	N922K	probably benign	Het
Ipo7	C	T	7: 109,653,254 (GRCm39)	L984F	probably benign	Het
Itgae	A	T	11: 73,002,184 (GRCm39)	Y96F	possibly damaging	Het
Kalrn	A	G	16: 34,076,597 (GRCm39)	V697A	unknown	Het
Kctd18	G	A	1: 58,006,737 (GRCm39)	R38*	probably null	Het
Kdm5b	A	G	1: 134,526,844 (GRCm39)	D322G	probably damaging	Het
Ldb3	A	G	14: 34,298,992 (GRCm39)	Y211H	probably benign	Het
Limch1	T	C	5: 67,111,028 (GRCm39)	F85S	probably damaging	Het
Lrrn4	A	T	2: 132,721,613 (GRCm39)	L68*	probably null	Het
Lrwd1	A	G	5: 136,152,129 (GRCm39)	V616A	possibly damaging	Het
Nars1	A	G	18: 64,640,841 (GRCm39)		probably null	Het
Nradd	T	C	9: 110,451,329 (GRCm39)	D13G	probably benign	Het
Oacyl	A	T	18: 65,831,480 (GRCm39)	N39I	probably damaging	Het
Onecut2	A	T	18: 64,473,983 (GRCm39)	H178L	possibly damaging	Het
Or9i14	T	A	19: 13,792,786 (GRCm39)	Q56L	probably benign	Het
Pcdhga4	A	C	18: 37,820,430 (GRCm39)	T660P	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pitpnm3	T	A	11: 71,942,102 (GRCm39)	I902F	possibly damaging	Het
Plod3	T	C	5: 137,023,971 (GRCm39)	L180S		Het
Prrc2c	A	T	1: 162,508,850 (GRCm39)	H2354Q	possibly damaging	Het
Pth2r	A	G	1: 65,361,225 (GRCm39)	E58G	probably benign	Het
Rev1	G	T	1: 38,110,530 (GRCm39)	D573E	possibly damaging	Het
Sec24a	A	T	11: 51,605,963 (GRCm39)	L696*	probably null	Het
Serpinb3c	A	G	1: 107,204,681 (GRCm39)	S22P	probably damaging	Het
St18	A	T	1: 6,929,351 (GRCm39)	H81L		Het
Stard9	A	T	2: 120,509,859 (GRCm39)	K266*	probably null	Het
Stip1	C	T	19: 6,999,178 (GRCm39)	G467S	possibly damaging	Het
Syne1	G	A	10: 5,193,180 (GRCm39)	A3956V	probably damaging	Het
Tcp10a	C	T	17: 7,612,351 (GRCm39)	T381I	probably benign	Het
Tecpr2	T	A	12: 110,881,806 (GRCm39)	V125D	probably damaging	Het
Tmc2	T	C	2: 130,074,329 (GRCm39)	S341P	possibly damaging	Het
Tmem190	G	A	7: 4,787,224 (GRCm39)	V143I	probably benign	Het
Trap1	A	G	16: 3,873,693 (GRCm39)	Y288H	probably benign	Het
Trim39	T	C	17: 36,571,547 (GRCm39)	T404A	probably benign	Het
Ttn	T	A	2: 76,576,043 (GRCm39)	K24950I	probably damaging	Het
Ttn	G	T	2: 76,774,696 (GRCm39)	N2161K	unknown	Het
Unc13b	T	C	4: 43,215,757 (GRCm39)	S19P	probably benign	Het
Uqcrc1	T	A	9: 108,778,536 (GRCm39)	I471N	probably damaging	Het
Wbp11	T	C	6: 136,798,540 (GRCm39)	T170A	probably benign	Het
Wnk4	A	G	11: 101,152,026 (GRCm39)	I177V	probably benign	Het
Zfp455	C	A	13: 67,347,230 (GRCm39)	P51T	probably damaging	Het
Zfp946	T	C	17: 22,673,644 (GRCm39)	Y133H	probably benign	Het
Zfp955a	A	T	17: 33,460,589 (GRCm39)	Y514*	probably null	Het
Zzef1	T	C	11: 72,808,697 (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
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
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

PCR Primer
(F):5'- GAAATCTCTTATCCCAGGGCAG -3'
(R):5'- AACAGCATTTTGACCTTCCTAGTG -3'

Sequencing Primer
(F):5'- CTCTTATCCCAGGGCAGTTAAATAGC -3'
(R):5'- TTCATTCAGCCGAGTCTC -3'

Posted On

2019-05-15