Mutagenetix > Incidental Mutations

Incidental Mutation 'R7132:App'

552774

Institutional Source

Beutler Lab

Gene Symbol

App

Ensembl Gene

ENSMUSG00000022892

Gene Name

amyloid beta (A4) precursor protein

Synonyms

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

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.555) question?

Stock #

R7132 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84949685-85173766 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85056482 bp

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]

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: 69,989,914	A1471V		Het
Ankrd12	C	A	17: 65,983,247	M1730I	probably benign	Het
Ap2a2	T	C	7: 141,619,565	Y462H	probably benign	Het
Ap5b1	T	A	19: 5,569,384	Y277*	probably null	Het
Arid2	A	T	15: 96,350,013	K102I	possibly damaging	Het
Asl	A	G	5: 130,014,702	V211A	possibly damaging	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,098,691		probably benign	Het
Cbx2	A	G	11: 119,023,121	S5G	probably benign	Het
Ccdc183	A	G	2: 25,616,530		probably null	Het
Cd72	T	C	4: 43,452,444	Q183R	possibly damaging	Het
Cdh26	T	A	2: 178,486,762	D702E	possibly damaging	Het
Cfap61	A	T	2: 146,109,950	N784I	probably damaging	Het
Cgrrf1	G	A	14: 46,853,864	V282M	probably damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Het
Cobll1	T	G	2: 65,133,768	K170Q	probably damaging	Het
Copg2	A	T	6: 30,815,996	V468D	probably benign	Het
Cracr2b	C	T	7: 141,463,738	A84V	probably benign	Het
Cyp2f2	A	T	7: 27,132,568	D416V	probably benign	Het
Dcaf10	T	C	4: 45,342,391	F75S	probably benign	Het
Eml3	G	T	19: 8,941,028	A829S	probably benign	Het
Entpd3	A	G	9: 120,561,020	T402A	probably benign	Het
Fer1l4	A	T	2: 156,045,626	V550E	probably damaging	Het
Fgb	G	A	3: 83,046,746	R62*	probably null	Het
Fubp1	T	A	3: 152,232,024		probably null	Het
Gdf3	A	C	6: 122,606,324	D361E	probably damaging	Het
Gm6685	A	T	11: 28,339,330	I162N	probably damaging	Het
Hmx2	A	G	7: 131,555,916	Y253C	probably damaging	Het
Ints2	G	T	11: 86,217,754	N922K	probably benign	Het
Ipo7	C	T	7: 110,054,047	L984F	probably benign	Het
Itgae	A	T	11: 73,111,358	Y96F	possibly damaging	Het
Kalrn	A	G	16: 34,256,227	V697A	unknown	Het
Kctd18	G	A	1: 57,967,578	R38*	probably null	Het
Kdm5b	A	G	1: 134,599,106	D322G	probably damaging	Het
Ldb3	A	G	14: 34,577,035	Y211H	probably benign	Het
Limch1	T	C	5: 66,953,685	F85S	probably damaging	Het
Lrrn4	A	T	2: 132,879,693	L68*	probably null	Het
Lrwd1	A	G	5: 136,123,275	V616A	possibly damaging	Het
Nars	A	G	18: 64,507,770		probably null	Het
Nradd	T	C	9: 110,622,261	D13G	probably benign	Het
Oacyl	A	T	18: 65,698,409	N39I	probably damaging	Het
Olfr1499	T	A	19: 13,815,422	Q56L	probably benign	Het
Onecut2	A	T	18: 64,340,912	H178L	possibly damaging	Het
Pcdhga4	A	C	18: 37,687,377	T660P	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Pitpnm3	T	A	11: 72,051,276	I902F	possibly damaging	Het
Plod3	T	C	5: 136,995,117	L180S		Het
Prrc2c	A	T	1: 162,681,281	H2354Q	possibly damaging	Het
Pth2r	A	G	1: 65,322,066	E58G	probably benign	Het
Rev1	G	T	1: 38,071,449	D573E	possibly damaging	Het
Sec24a	A	T	11: 51,715,136	L696*	probably null	Het
Serpinb3c	A	G	1: 107,276,951	S22P	probably damaging	Het
St18	A	T	1: 6,859,127	H81L		Het
Stard9	A	T	2: 120,679,378	K266*	probably null	Het
Stip1	C	T	19: 7,021,810	G467S	possibly damaging	Het
Syne1	G	A	10: 5,243,180	A3956V	probably damaging	Het
Tcp10a	C	T	17: 7,344,952	T381I	probably benign	Het
Tecpr2	T	A	12: 110,915,372	V125D	probably damaging	Het
Tmc2	T	C	2: 130,232,409	S341P	possibly damaging	Het
Tmem190	G	A	7: 4,784,225	V143I	probably benign	Het
Trap1	A	G	16: 4,055,829	Y288H	probably benign	Het
Trim39	T	C	17: 36,260,655	T404A	probably benign	Het
Ttn	T	A	2: 76,745,699	K24950I	probably damaging	Het
Ttn	G	T	2: 76,944,352	N2161K	unknown	Het
Unc13b	T	C	4: 43,215,757	S19P	probably benign	Het
Uqcrc1	T	A	9: 108,949,468	I471N	probably damaging	Het
Wbp11	T	C	6: 136,821,542	T170A	probably benign	Het
Wnk4	A	G	11: 101,261,200	I177V	probably benign	Het
Zfp455	C	A	13: 67,199,166	P51T	probably damaging	Het
Zfp946	T	C	17: 22,454,663	Y133H	probably benign	Het
Zfp955a	A	T	17: 33,241,615	Y514*	probably null	Het
Zzef1	T	C	11: 72,917,871		probably null	Het

Other mutations in App

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00834:App	APN	16	84965711	missense	probably damaging	0.99
IGL01457:App	APN	16	85103239	missense	probably damaging	1.00
IGL02016:App	APN	16	85056521	missense	unknown
IGL02135:App	APN	16	85079838	critical splice donor site	probably null
IGL02338:App	APN	16	85173519	missense	probably benign	0.01
IGL02377:App	APN	16	85082831	missense	probably benign	0.07
IGL02516:App	APN	16	84955417	missense	probably damaging	1.00
IGL02565:App	APN	16	85025420	splice site	probably null
IGL03179:App	APN	16	85082847	missense	probably damaging	1.00
LCD18:App	UTSW	16	85025412	splice site	probably benign
R0349:App	UTSW	16	85013680	missense	probably damaging	1.00
R0440:App	UTSW	16	85056414	nonsense	probably null
R0515:App	UTSW	16	85103344	splice site	probably benign
R0730:App	UTSW	16	85079952	missense	probably damaging	0.98
R1609:App	UTSW	16	85079949	missense	probably damaging	0.97
R1703:App	UTSW	16	84965768	missense	probably damaging	1.00
R2516:App	UTSW	16	84978229	missense	probably damaging	0.97
R4366:App	UTSW	16	85056433	missense	unknown
R4735:App	UTSW	16	85103314	missense	probably damaging	0.99
R4849:App	UTSW	16	85056434	missense	unknown
R4851:App	UTSW	16	85056434	missense	unknown
R6254:App	UTSW	16	84978177	missense	probably damaging	1.00
R6489:App	UTSW	16	85056520	missense	unknown
R6796:App	UTSW	16	85120567	missense	probably damaging	0.98
R7194:App	UTSW	16	85025431	missense	probably benign	0.40
R7456:App	UTSW	16	85173560
R7528:App	UTSW	16	84978258	missense	possibly damaging	0.89
R7594:App	UTSW	16	85080002	missense	unknown
R7699:App	UTSW	16	85040309	critical splice acceptor site	probably null
R7700:App	UTSW	16	85040309	critical splice acceptor site	probably null

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