Mutagenetix > Incidental Mutation

Incidental Mutation 'R4851:App'

373587

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

042463-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.557) question?

Stock #

R4851 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84751236-84972187 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84853322 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 252 (D252G)

Ref Sequence

ENSEMBL: ENSMUSP00000154401 (fasta)

Gene Model

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

AlphaFold

P12023

Predicted Effect

unknown
Transcript: ENSMUST00000005406
AA Change: D252G

SMART Domains

Protein: ENSMUSP00000005406
Gene: ENSMUSG00000022892
AA Change: D252G

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: D252G

Predicted Effect

unknown
Transcript: ENSMUST00000226801
AA Change: D252G

Predicted Effect

unknown
Transcript: ENSMUST00000227021
AA Change: D252G

Predicted Effect

unknown
Transcript: ENSMUST00000227723
AA Change: D252G

Predicted Effect

unknown
Transcript: ENSMUST00000227737
AA Change: D252G

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227990

Meta Mutation Damage Score

0.0621

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

100% (99/99)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,433,890 (GRCm39)	R4148S	probably benign	Het
Acoxl	T	A	2: 127,886,311 (GRCm39)	L182Q	possibly damaging	Het
Aldh7a1	T	C	18: 56,665,088 (GRCm39)	T364A	possibly damaging	Het
Arid1a	A	G	4: 133,408,672 (GRCm39)	I1945T	unknown	Het
Arsk	C	T	13: 76,213,398 (GRCm39)		probably null	Het
Atad2b	G	A	12: 4,993,251 (GRCm39)	G257S	probably benign	Het
Best1	C	A	19: 9,969,062 (GRCm39)	R218L	probably damaging	Het
Cacna1e	A	T	1: 154,312,300 (GRCm39)		probably null	Het
Cdh13	C	T	8: 119,484,129 (GRCm39)	T130I	possibly damaging	Het
Cela2a	T	C	4: 141,552,902 (GRCm39)	E25G	probably benign	Het
Cgnl1	T	A	9: 71,632,314 (GRCm39)	I346F	probably damaging	Het
Chil6	C	T	3: 106,297,244 (GRCm39)	G299D	possibly damaging	Het
Cic	G	A	7: 24,972,327 (GRCm39)	R686H	probably damaging	Het
Cnpy1	T	C	5: 28,450,738 (GRCm39)	I23V	probably benign	Het
Col6a3	T	A	1: 90,707,011 (GRCm39)	Y2034F	unknown	Het
Coq10b	T	C	1: 55,110,903 (GRCm39)	Y224H	probably benign	Het
Cryge	G	T	1: 65,090,211 (GRCm39)		probably benign	Het
Cyb5rl	T	G	4: 106,941,510 (GRCm39)	S252A	probably benign	Het
Cyp2ab1	T	A	16: 20,133,814 (GRCm39)	R125S	probably damaging	Het
Dclk1	G	A	3: 55,387,811 (GRCm39)	G86R	probably damaging	Het
Dmtn	A	G	14: 70,842,254 (GRCm39)	M382T	probably damaging	Het
Dnaaf8	A	G	16: 4,794,138 (GRCm39)		noncoding transcript	Het
Dnah12	T	A	14: 26,437,784 (GRCm39)	L471*	probably null	Het
Dock10	A	T	1: 80,526,874 (GRCm39)	S782T	probably benign	Het
Egfem1	C	A	3: 29,206,032 (GRCm39)	H90N	possibly damaging	Het
Ephb6	T	A	6: 41,595,079 (GRCm39)	W698R	probably benign	Het
Exoc4	T	A	6: 33,895,343 (GRCm39)	C787S	probably damaging	Het
Exosc8	A	T	3: 54,639,523 (GRCm39)		probably benign	Het
Galc	T	A	12: 98,193,533 (GRCm39)	Q352L	probably benign	Het
Galns	A	G	8: 123,327,272 (GRCm39)	Y167H	probably damaging	Het
Glb1l	T	C	1: 75,185,528 (GRCm39)		probably benign	Het
Gm6185	A	T	1: 161,033,750 (GRCm39)		noncoding transcript	Het
Gm7694	T	C	1: 170,128,794 (GRCm39)	N245S	probably benign	Het
Gmcl1	T	G	6: 86,681,538 (GRCm39)	K385N	possibly damaging	Het
Gramd1c	A	T	16: 43,810,200 (GRCm39)	W463R	probably damaging	Het
Gtpbp8	C	G	16: 44,566,433 (GRCm39)	A90P	probably benign	Het
H2bc11	G	T	13: 22,227,421 (GRCm39)		probably benign	Het
Hcar1	T	C	5: 124,016,731 (GRCm39)	E320G	probably benign	Het
Hhatl	T	C	9: 121,618,077 (GRCm39)	D226G	probably damaging	Het
Hoxc5	T	A	15: 102,923,801 (GRCm39)	I199N	probably damaging	Het
Iars2	T	C	1: 185,059,845 (GRCm39)	D121G	probably damaging	Het
Il5ra	T	A	6: 106,715,432 (GRCm39)	H134L	probably benign	Het
Isl2	T	A	9: 55,452,271 (GRCm39)	I281N	possibly damaging	Het
Kcnk13	T	C	12: 99,932,383 (GRCm39)	F60L	probably damaging	Het
Kdelr3	C	T	15: 79,409,066 (GRCm39)	T85M	possibly damaging	Het
Kdf1	A	T	4: 133,255,676 (GRCm39)	H131L	probably damaging	Het
Mipol1	T	A	12: 57,379,087 (GRCm39)	L182I	probably damaging	Het
Morc1	T	G	16: 48,381,980 (GRCm39)	S513R	probably benign	Het
Moxd2	A	T	6: 40,855,756 (GRCm39)	L611H	probably damaging	Het
Mpped2	T	C	2: 106,529,724 (GRCm39)		probably benign	Het
Mrpl51	T	C	6: 125,170,270 (GRCm39)	V92A	probably benign	Het
Mrps26	G	A	2: 130,405,681 (GRCm39)		probably benign	Het
Mrps5	A	G	2: 127,432,665 (GRCm39)	T29A	probably benign	Het
Mustn1	A	G	14: 30,601,517 (GRCm39)		probably benign	Het
Ncor2	G	A	5: 125,110,431 (GRCm39)	P858S	possibly damaging	Het
Nfasc	A	G	1: 132,529,759 (GRCm39)	F807S	probably damaging	Het
Nup50	G	A	15: 84,823,912 (GRCm39)	V422I	probably benign	Het
Or10x1	T	A	1: 174,196,562 (GRCm39)	F26L	probably benign	Het
Or13a25	A	T	7: 140,247,226 (GRCm39)	M2L	probably benign	Het
Or1e25	A	T	11: 73,493,883 (GRCm39)	H159L	probably damaging	Het
Or2ag13	A	T	7: 106,473,221 (GRCm39)	V77D	probably damaging	Het
Or3a1d	C	A	11: 74,237,769 (GRCm39)	V214L	probably benign	Het
Or4c107	A	G	2: 88,788,930 (GRCm39)	N40S	probably damaging	Het
Or8b44	T	A	9: 38,410,319 (GRCm39)	M118K	probably damaging	Het
Or8u9	T	A	2: 86,002,015 (GRCm39)	I49F	probably damaging	Het
Osbpl8	T	A	10: 111,040,661 (GRCm39)	M1K	probably null	Het
Pcdhb22	A	C	18: 37,652,087 (GRCm39)	D185A	possibly damaging	Het
Pcdhga8	G	T	18: 37,949,457 (GRCm39)	R291L	probably damaging	Het
Saysd1	A	T	14: 20,127,672 (GRCm39)	L84Q	possibly damaging	Het
Slc41a1	T	C	1: 131,758,508 (GRCm39)	I50T	probably benign	Het
Smg7	G	A	1: 152,720,020 (GRCm39)	P834S	probably benign	Het
Speer4a1	C	T	5: 26,243,210 (GRCm39)	V92M	probably damaging	Het
Srf	T	C	17: 46,860,400 (GRCm39)	T461A	probably benign	Het
Ssu72	A	G	4: 155,800,053 (GRCm39)	D72G	possibly damaging	Het
Suco	T	C	1: 161,661,761 (GRCm39)	E890G	probably damaging	Het
Tenm3	A	G	8: 48,763,656 (GRCm39)		probably null	Het
Tm6sf1	A	G	7: 81,515,091 (GRCm39)	E7G	probably null	Het
Tm9sf2	A	G	14: 122,378,616 (GRCm39)	K240R	probably benign	Het
Tmem52	T	A	4: 155,554,825 (GRCm39)	Y149*	probably null	Het
Tpgs2	A	T	18: 25,284,305 (GRCm39)	Y68N	possibly damaging	Het
Vmn1r205	T	A	13: 22,777,074 (GRCm39)	E9D	probably benign	Het
Vmn2r32	A	G	7: 7,482,953 (GRCm39)	V7A	possibly damaging	Het
Vmn2r80	T	C	10: 79,030,156 (GRCm39)	Y661H	possibly damaging	Het
Vps39	G	A	2: 120,152,312 (GRCm39)		probably benign	Het
Vwde	A	T	6: 13,196,047 (GRCm39)	V326D	possibly damaging	Het
Zfp641	T	A	15: 98,186,598 (GRCm39)	S342C	probably damaging	Het
Zfp961	T	C	8: 72,722,847 (GRCm39)		probably benign	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
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
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'- AGGAAGAAGCCTTGTGATTTTG -3'
(R):5'- CACGCATTACCAAAGTCCCTTG -3'

Sequencing Primer
(F):5'- CTGGAGAAGGGAAGCACTGATTG -3'
(R):5'- ACCAAAGTCCCTTGATTCTTTTTC -3'

Posted On

2016-03-01