Mutagenetix > Incidental Mutation

Incidental Mutation 'R1895:Apba2'

209743

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

039915-MU

Accession Numbers

Essential gene?

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

Stock #

R1895 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64151454-64403626 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 64394378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

P98084

Predicted Effect

probably null
Transcript: ENSMUST00000032732

SMART Domains

Protein: ENSMUSP00000032732
Gene: ENSMUSG00000030519

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 null
Transcript: ENSMUST00000096173

SMART Domains

Protein: ENSMUSP00000093887
Gene: ENSMUSG00000030519

Domain	Start	End	E-Value	Type
PDZ	27	105	6.32e-12	SMART
PDZ	119	185	1.79e-11	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000107507

SMART Domains

Protein: ENSMUSP00000103131
Gene: ENSMUSG00000030519

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

noncoding transcript
Transcript: ENSMUST00000205551

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206061

Predicted Effect

probably null
Transcript: ENSMUST00000206246

Predicted Effect

probably null
Transcript: ENSMUST00000206246

Predicted Effect

probably null
Transcript: ENSMUST00000206630

Predicted Effect

probably null
Transcript: ENSMUST00000206630

Meta Mutation Damage Score

0.9494

Coding Region Coverage

1x: 97.1%
3x: 96.2%
10x: 93.2%
20x: 86.6%

Validation Efficiency

96% (100/104)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,039,551 (GRCm39)	S253P	probably damaging	Het
Adgrb1	A	G	15: 74,412,314 (GRCm39)	D431G	probably damaging	Het
Adgrv1	C	T	13: 81,522,368 (GRCm39)	C5923Y	probably damaging	Het
Akr1b10	T	A	6: 34,365,805 (GRCm39)	I110N	probably damaging	Het
Arhgef12	G	T	9: 42,917,152 (GRCm39)	Q396K	probably damaging	Het
Arpc1b	A	G	5: 145,059,443 (GRCm39)	T56A	probably null	Het
Atoh1	T	C	6: 64,706,443 (GRCm39)	V46A	probably benign	Het
AU015836	T	C	X: 93,012,985 (GRCm39)		probably benign	Het
Cacna1c	C	T	6: 118,589,586 (GRCm39)	R1446H	probably damaging	Het
Capn13	T	C	17: 73,657,520 (GRCm39)	E240G	possibly damaging	Het
Cdh8	T	C	8: 100,006,189 (GRCm39)	T133A	possibly damaging	Het
Cep295	T	C	9: 15,243,399 (GRCm39)	T1686A	possibly damaging	Het
Col4a3	A	T	1: 82,656,829 (GRCm39)	K749N	unknown	Het
Col6a3	T	A	1: 90,731,433 (GRCm39)	M1000L	probably benign	Het
Coq8b	G	A	7: 26,939,299 (GRCm39)	V150I	possibly damaging	Het
Dmxl1	G	T	18: 50,088,981 (GRCm39)		probably null	Het
Dnah10	A	G	5: 124,835,494 (GRCm39)	D990G	probably benign	Het
Dpp7	G	T	2: 25,243,691 (GRCm39)		probably null	Het
Eif3l	A	G	15: 78,973,677 (GRCm39)	N364S	possibly damaging	Het
Epb41l5	T	C	1: 119,476,902 (GRCm39)	D718G	possibly damaging	Het
F930017D23Rik	G	A	10: 43,469,440 (GRCm39)		noncoding transcript	Het
Fam20a	T	C	11: 109,564,380 (GRCm39)	K458E	probably benign	Het
Fbxo44	C	G	4: 148,240,726 (GRCm39)	R220S	probably damaging	Het
Fut2	A	G	7: 45,300,748 (GRCm39)	F8S	probably damaging	Het
Gad2	A	T	2: 22,575,440 (GRCm39)	T515S	probably benign	Het
Glmn	T	C	5: 107,718,110 (GRCm39)	D269G	probably benign	Het
Gpatch4	A	G	3: 87,959,409 (GRCm39)	Y106C	probably damaging	Het
Grm3	A	G	5: 9,562,123 (GRCm39)	W576R	probably damaging	Het
Hdac7	T	C	15: 97,694,767 (GRCm39)	D701G	probably damaging	Het
Hectd2	T	A	19: 36,591,860 (GRCm39)	I687K	probably damaging	Het
Hmcn2	T	C	2: 31,295,647 (GRCm39)	S2619P	probably damaging	Het
Ilf3	T	A	9: 21,316,063 (GRCm39)		probably benign	Het
Kdm4b	T	A	17: 56,704,340 (GRCm39)	V272E	probably damaging	Het
Kera	A	G	10: 97,445,009 (GRCm39)	K123E	probably benign	Het
Kif11	G	A	19: 37,375,847 (GRCm39)	R220K	probably damaging	Het
Kmt2c	A	T	5: 25,520,152 (GRCm39)	V1986E	probably benign	Het
Lrp11	T	C	10: 7,499,540 (GRCm39)	Y244H	probably damaging	Het
Lrp1b	T	A	2: 40,555,159 (GRCm39)	D320V	unknown	Het
Map4k5	A	T	12: 69,892,529 (GRCm39)	D133E	probably damaging	Het
Megf11	A	T	9: 64,586,558 (GRCm39)	D461V	probably damaging	Het
Muc5b	A	C	7: 141,411,382 (GRCm39)	T1443P	unknown	Het
Mxi1	G	A	19: 53,358,775 (GRCm39)	R236H	probably benign	Het
Nav1	A	T	1: 135,386,396 (GRCm39)	W1211R	probably damaging	Het
Ncoa3	T	A	2: 165,901,097 (GRCm39)	N896K	possibly damaging	Het
Nmt2	T	A	2: 3,323,672 (GRCm39)	I355N	probably benign	Het
Nxpe5	T	C	5: 138,249,785 (GRCm39)	V525A	probably damaging	Het
Oas1f	A	T	5: 120,993,648 (GRCm39)	T287S	probably benign	Het
Or1n1b	A	T	2: 36,780,458 (GRCm39)	M134K	possibly damaging	Het
Or5ae1	T	C	7: 84,565,487 (GRCm39)	S167P	probably benign	Het
Or6ae1	T	A	7: 139,742,726 (GRCm39)	I46F	possibly damaging	Het
Or7a38	T	A	10: 78,752,758 (GRCm39)	I28N	probably damaging	Het
Or8b3	T	A	9: 38,314,182 (GRCm39)	M1K	probably null	Het
Pakap	T	C	4: 57,638,068 (GRCm39)	V35A	probably benign	Het
Panx1	A	G	9: 14,918,822 (GRCm39)	C346R	probably benign	Het
Plekha7	T	C	7: 115,744,209 (GRCm39)	E764G	probably damaging	Het
Plet1	A	G	9: 50,415,652 (GRCm39)		probably null	Het
Plod2	A	G	9: 92,489,188 (GRCm39)	S707G	probably damaging	Het
Plscr4	G	A	9: 92,365,889 (GRCm39)	V120I	probably damaging	Het
Pramel31	T	A	4: 144,088,435 (GRCm39)	V77E	probably benign	Het
Prob1	T	A	18: 35,785,942 (GRCm39)	T771S	possibly damaging	Het
Rasa3	A	G	8: 13,681,768 (GRCm39)		probably benign	Het
Ror2	T	C	13: 53,285,885 (GRCm39)	I110V	probably damaging	Het
Sec24d	A	T	3: 123,147,043 (GRCm39)	H667L	probably benign	Het
Sema3d	A	G	5: 12,623,810 (GRCm39)	Q573R	probably damaging	Het
Serpinb2	T	A	1: 107,452,337 (GRCm39)	V305D	probably damaging	Het
Slc11a2	G	A	15: 100,301,775 (GRCm39)	R249C	probably benign	Het
Slc14a1	T	C	18: 78,152,912 (GRCm39)	I276V	possibly damaging	Het
Snx19	T	A	9: 30,343,620 (GRCm39)	N593K	probably damaging	Het
Ssh2	C	G	11: 77,340,571 (GRCm39)	D574E	probably damaging	Het
Stil	T	C	4: 114,881,072 (GRCm39)	S539P	probably benign	Het
Syt4	T	C	18: 31,577,141 (GRCm39)	K71R	probably damaging	Het
Tenm4	A	T	7: 96,385,015 (GRCm39)	H524L	probably damaging	Het
Tex30	C	T	1: 44,130,564 (GRCm39)	G68D	probably damaging	Het
Tm4sf19	A	G	16: 32,226,500 (GRCm39)	Y138C	probably damaging	Het
Tmem43	A	T	6: 91,463,891 (GRCm39)	I389F	probably benign	Het
Trpm1	A	T	7: 63,873,556 (GRCm39)	N488Y	probably damaging	Het
Tshz1	A	T	18: 84,031,558 (GRCm39)	L950Q	probably damaging	Het
Vmn1r16	T	C	6: 57,299,885 (GRCm39)	I246V	probably benign	Het
Vmn1r188	T	G	13: 22,272,815 (GRCm39)	S256R	possibly damaging	Het
Zfp12	G	A	5: 143,231,133 (GRCm39)	E487K	probably damaging	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
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
R4620:Apba2	UTSW	7	64,364,215 (GRCm39)	missense	probably damaging	1.00
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'- GGACCAAATCCCTCCTGTCAAG -3'
(R):5'- TGCCTGGAGTGAGATGACAC -3'

Sequencing Primer
(F):5'- AAGTGGGCCCTCTCACACTG -3'
(R):5'- GAGTGAGATGACACCTCCCTC -3'

Posted On

2014-06-30