Mutagenetix > Incidental Mutation

Incidental Mutation 'R4620:Apba2'

345237

Institutional Source

Beutler Lab

Gene Symbol

Apba2

Ensembl Gene

ENSMUSG00000030519

Gene Name

amyloid beta precursor protein binding family A member 2

Synonyms

X11L, Mint 2, X11-like

MMRRC Submission

042008-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

R4620 (G1)

Quality Score

199

Status

Validated

Chromosome

Chromosomal Location

64151454-64403626 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 64364215 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 331 (R331C)

Ref Sequence

ENSEMBL: ENSMUSP00000146038 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032732] [ENSMUST00000206246]

AlphaFold

P98084

Predicted Effect

probably damaging
Transcript: ENSMUST00000032732
AA Change: R331C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032732
Gene: ENSMUSG00000030519
AA Change: R331C

Domain	Start	End	E-Value	Type
low complexity region	82	96	N/A	INTRINSIC
low complexity region	216	230	N/A	INTRINSIC
PTB	368	534	6.31e-29	SMART
PDZ	578	656	6.32e-12	SMART
PDZ	670	736	1.79e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000107507
AA Change: R331C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103131
Gene: ENSMUSG00000030519
AA Change: R331C

Domain	Start	End	E-Value	Type
low complexity region	82	96	N/A	INTRINSIC
low complexity region	216	230	N/A	INTRINSIC
PTB	368	522	8.46e-30	SMART
PDZ	566	644	6.32e-12	SMART
PDZ	658	724	1.79e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000206246
AA Change: R331C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.3805

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

99% (80/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene show a selective deficit in motivated approach behavior, but not in motivated avoidance behavior. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	T	7: 130,945,335 (GRCm39)	Y433*	probably null	Het
Apod	T	C	16: 31,116,211 (GRCm39)	D173G	probably benign	Het
B3gnt5	A	T	16: 19,588,632 (GRCm39)	M284L	probably benign	Het
Birc6	A	C	17: 74,947,145 (GRCm39)	T2955P	probably benign	Het
Blvra	T	C	2: 126,938,885 (GRCm39)	I287T	probably damaging	Het
Capn5	T	C	7: 97,778,578 (GRCm39)	Y347C	probably damaging	Het
Cdcp2	A	G	4: 106,963,927 (GRCm39)	E259G	probably damaging	Het
Cdh2	A	G	18: 16,781,665 (GRCm39)	V85A	probably benign	Het
Cdk5rap2	A	G	4: 70,184,943 (GRCm39)	I1169T	probably benign	Het
Cenpj	A	G	14: 56,772,911 (GRCm39)	V1043A	probably damaging	Het
Cfap54	T	A	10: 92,805,619 (GRCm39)	H1497L	probably benign	Het
Chat	A	G	14: 32,175,775 (GRCm39)	M95T	probably damaging	Het
Csmd1	T	C	8: 16,052,694 (GRCm39)		probably null	Het
Csmd3	T	C	15: 47,449,149 (GRCm39)	E3615G	probably benign	Het
Cyp2c68	A	T	19: 39,701,006 (GRCm39)		probably null	Het
Dll1	C	T	17: 15,590,828 (GRCm39)	A332T	probably benign	Het
Dmrta1	A	T	4: 89,577,021 (GRCm39)	Q159L	probably benign	Het
Dnai3	A	T	3: 145,748,564 (GRCm39)	L850Q	probably damaging	Het
Eci3	A	T	13: 35,132,741 (GRCm39)	M212K	probably damaging	Het
Eml4	T	C	17: 83,768,962 (GRCm39)	F557L	probably benign	Het
Fat3	A	T	9: 15,908,190 (GRCm39)	V2604D	probably damaging	Het
Frem3	T	C	8: 81,395,586 (GRCm39)	V1871A	possibly damaging	Het
Gart	T	C	16: 91,422,321 (GRCm39)	N732S	probably damaging	Het
Gas2l2	T	C	11: 83,313,924 (GRCm39)	I463V	probably benign	Het
H2-M3	C	A	17: 37,583,310 (GRCm39)	T257K	probably damaging	Het
Hdgf	A	G	3: 87,821,883 (GRCm39)	N166S	possibly damaging	Het
Hoxb3	A	T	11: 96,236,599 (GRCm39)	N226Y	probably damaging	Het
Itgav	T	C	2: 83,586,246 (GRCm39)	Y169H	probably benign	Het
Kalrn	T	G	16: 33,849,075 (GRCm39)	I426L	probably damaging	Het
Kcnh3	G	A	15: 99,131,982 (GRCm39)	V646M	probably damaging	Het
Kif6	T	C	17: 50,208,324 (GRCm39)	V735A	probably benign	Het
Krt1c	T	A	15: 101,726,026 (GRCm39)	I171F	probably damaging	Het
Megf8	G	A	7: 25,054,523 (GRCm39)	A1880T	possibly damaging	Het
Miox	A	T	15: 89,220,324 (GRCm39)	Y172F	probably benign	Het
Myo18a	G	A	11: 77,708,773 (GRCm39)	R48H	possibly damaging	Het
Ndufb7	T	C	8: 84,293,487 (GRCm39)	S14P	probably damaging	Het
Npepps	A	T	11: 97,129,070 (GRCm39)	H371Q	probably damaging	Het
Or10d5j	C	T	9: 39,868,205 (GRCm39)	V9M	probably damaging	Het
Or52e15	T	A	7: 104,645,830 (GRCm39)	I94F	probably damaging	Het
Or52e19	C	T	7: 102,959,165 (GRCm39)	T79I	probably benign	Het
Or8b12c	A	G	9: 37,716,115 (GRCm39)	T303A	probably benign	Het
Orc5	A	T	5: 22,734,174 (GRCm39)	D203E	probably damaging	Het
Pappa	A	G	4: 65,245,265 (GRCm39)	T1518A	probably benign	Het
Pde6a	A	G	18: 61,395,563 (GRCm39)	D602G	probably damaging	Het
Pnliprp2	G	A	19: 58,750,718 (GRCm39)	V136I	possibly damaging	Het
Postn	A	C	3: 54,284,414 (GRCm39)	D627A	probably damaging	Het
Prpf39	T	C	12: 65,089,337 (GRCm39)	V25A	probably benign	Het
Pxdc1	A	G	13: 34,836,297 (GRCm39)	I41T	probably damaging	Het
Rab11fip1	T	A	8: 27,644,243 (GRCm39)	E514V	probably damaging	Het
Rag1	A	T	2: 101,474,025 (GRCm39)	H372Q	probably damaging	Het
Ranbp1	A	G	16: 18,057,968 (GRCm39)		probably benign	Het
Rexo5	A	G	7: 119,426,526 (GRCm39)	I317V	probably benign	Het
Rragc	A	G	4: 123,818,622 (GRCm39)	Q279R	probably damaging	Het
Sbf1	A	G	15: 89,191,129 (GRCm39)	S187P	probably damaging	Het
Senp3	T	A	11: 69,567,944 (GRCm39)	Y432F	probably benign	Het
Slfn5	G	A	11: 82,852,478 (GRCm39)	C868Y	probably damaging	Het
Sorcs2	C	T	5: 36,194,838 (GRCm39)	A722T	probably benign	Het
Sptb	A	T	12: 76,630,581 (GRCm39)	C2244*	probably null	Het
Srbd1	A	T	17: 86,416,693 (GRCm39)	F488L	probably benign	Het
Sucnr1	A	G	3: 59,994,190 (GRCm39)	I239M	possibly damaging	Het
Themis2	A	G	4: 132,513,333 (GRCm39)	W298R	probably damaging	Het
Tmem168	T	G	6: 13,594,952 (GRCm39)	N37T	probably benign	Het
Tmem62	A	G	2: 120,826,845 (GRCm39)		probably benign	Het
Tmprss15	T	C	16: 78,818,358 (GRCm39)	D524G	probably damaging	Het
Trav5-4	G	T	14: 53,941,853 (GRCm39)	M75I	probably benign	Het
Trio	T	A	15: 27,871,257 (GRCm39)	H620L	probably damaging	Het
Ubap2	C	T	4: 41,233,698 (GRCm39)	G64E	probably damaging	Het
Usp32	C	A	11: 84,949,953 (GRCm39)		probably null	Het
Wdfy3	A	T	5: 102,054,011 (GRCm39)	F1603Y	probably damaging	Het
Xpo4	A	T	14: 57,867,782 (GRCm39)	L155Q	probably damaging	Het
Zbtb21	T	C	16: 97,751,092 (GRCm39)	T1092A	possibly damaging	Het
Zfp780b	A	T	7: 27,662,178 (GRCm39)	Y792*	probably null	Het

Other mutations in Apba2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Apba2	APN	7	64,386,689 (GRCm39)	missense	possibly damaging	0.79
IGL01716:Apba2	APN	7	64,395,574 (GRCm39)	splice site	probably benign
IGL02218:Apba2	APN	7	64,345,425 (GRCm39)	missense	probably benign	0.01
IGL02343:Apba2	APN	7	64,344,894 (GRCm39)	missense	probably damaging	0.96
IGL03265:Apba2	APN	7	64,345,071 (GRCm39)	missense	probably damaging	1.00
guadalupe	UTSW	7	64,399,912 (GRCm39)	missense	probably damaging	1.00
LCD18:Apba2	UTSW	7	64,271,908 (GRCm39)	intron	probably benign
R0395:Apba2	UTSW	7	64,393,156 (GRCm39)	missense	probably benign	0.00
R0554:Apba2	UTSW	7	64,395,528 (GRCm39)	missense	probably damaging	1.00
R0624:Apba2	UTSW	7	64,364,263 (GRCm39)	splice site	probably null
R0733:Apba2	UTSW	7	64,399,912 (GRCm39)	missense	probably damaging	1.00
R1107:Apba2	UTSW	7	64,395,467 (GRCm39)	missense	possibly damaging	0.51
R1464:Apba2	UTSW	7	64,345,297 (GRCm39)	missense	probably benign
R1464:Apba2	UTSW	7	64,345,297 (GRCm39)	missense	probably benign
R1486:Apba2	UTSW	7	64,386,696 (GRCm39)	missense	probably damaging	1.00
R1895:Apba2	UTSW	7	64,394,378 (GRCm39)	critical splice donor site	probably null
R1942:Apba2	UTSW	7	64,345,218 (GRCm39)	missense	possibly damaging	0.92
R1946:Apba2	UTSW	7	64,394,378 (GRCm39)	critical splice donor site	probably null
R2002:Apba2	UTSW	7	64,383,290 (GRCm39)	missense	probably damaging	0.97
R2089:Apba2	UTSW	7	64,345,341 (GRCm39)	missense	probably benign	0.02
R2091:Apba2	UTSW	7	64,345,341 (GRCm39)	missense	probably benign	0.02
R2091:Apba2	UTSW	7	64,345,341 (GRCm39)	missense	probably benign	0.02
R2571:Apba2	UTSW	7	64,395,498 (GRCm39)	missense	probably damaging	0.98
R3035:Apba2	UTSW	7	64,389,540 (GRCm39)	missense	probably benign	0.03
R5468:Apba2	UTSW	7	64,395,510 (GRCm39)	missense	probably damaging	1.00
R5478:Apba2	UTSW	7	64,344,934 (GRCm39)	nonsense	probably null
R5644:Apba2	UTSW	7	64,365,259 (GRCm39)	missense	probably benign
R5645:Apba2	UTSW	7	64,345,554 (GRCm39)	missense	possibly damaging	0.92
R5941:Apba2	UTSW	7	64,395,464 (GRCm39)	missense	probably benign	0.03
R5969:Apba2	UTSW	7	64,394,195 (GRCm39)	nonsense	probably null
R6190:Apba2	UTSW	7	64,389,628 (GRCm39)	missense	probably damaging	0.98
R6806:Apba2	UTSW	7	64,345,207 (GRCm39)	missense	probably damaging	1.00
R7098:Apba2	UTSW	7	64,386,696 (GRCm39)	missense	probably damaging	1.00
R7143:Apba2	UTSW	7	64,394,165 (GRCm39)	missense	probably damaging	1.00
R7183:Apba2	UTSW	7	64,383,293 (GRCm39)	missense	probably benign	0.11
R7260:Apba2	UTSW	7	64,389,493 (GRCm39)	missense	probably damaging	1.00
R7479:Apba2	UTSW	7	64,389,607 (GRCm39)	missense	possibly damaging	0.63
R7677:Apba2	UTSW	7	64,344,845 (GRCm39)	missense	probably benign	0.02
R7959:Apba2	UTSW	7	64,345,571 (GRCm39)	missense	probably benign
R8325:Apba2	UTSW	7	64,345,730 (GRCm39)	missense	probably benign	0.02
R8376:Apba2	UTSW	7	64,345,341 (GRCm39)	missense	probably benign	0.02
R8411:Apba2	UTSW	7	64,386,674 (GRCm39)	missense	probably damaging	0.99
R8412:Apba2	UTSW	7	64,395,546 (GRCm39)	missense	probably damaging	1.00
R8857:Apba2	UTSW	7	64,399,939 (GRCm39)	missense	possibly damaging	0.76
R9040:Apba2	UTSW	7	64,393,072 (GRCm39)	missense	possibly damaging	0.82
R9265:Apba2	UTSW	7	64,393,020 (GRCm39)	missense	probably damaging	0.99
R9356:Apba2	UTSW	7	64,345,421 (GRCm39)	missense	probably damaging	1.00
R9569:Apba2	UTSW	7	64,393,138 (GRCm39)	missense	possibly damaging	0.64
R9667:Apba2	UTSW	7	64,345,062 (GRCm39)	missense	possibly damaging	0.67
Z1177:Apba2	UTSW	7	64,399,983 (GRCm39)	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- TTAGTTGCATAACAGTTGGGCAC -3'
(R):5'- TGTGAGTCCTCAGGATATGCCC -3'

Sequencing Primer
(F):5'- CAGTTGGGCACTTGTATACATGTAC -3'
(R):5'- AGGATATGCCCTCCCCCTAC -3'

Posted On

2015-09-25