Mutagenetix > Incidental Mutation

Incidental Mutation 'R7602:Ap3m2'

588066

Institutional Source

Beutler Lab

Gene Symbol

Ap3m2

Ensembl Gene

ENSMUSG00000031539

Gene Name

adaptor-related protein complex 3, mu 2 subunit

Synonyms

5830445E16Rik, AP-3B

MMRRC Submission

045674-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7602 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23277370-23295638 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23282770 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 256 (N256S)

Ref Sequence

ENSEMBL: ENSMUSP00000128446 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163739] [ENSMUST00000210656]

AlphaFold

Q8R2R9

Predicted Effect

probably benign
Transcript: ENSMUST00000163739
AA Change: N256S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000128446
Gene: ENSMUSG00000031539
AA Change: N256S

Domain	Start	End	E-Value	Type
Pfam:Clat_adaptor_s	1	137	2.7e-8	PFAM
Pfam:Adap_comp_sub	165	418	1.3e-76	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000210656
AA Change: N256S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (58/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 3 (AP-3), which belongs to the adaptor complexes medium subunits family. The AP-3 complex plays a role in protein trafficking to lysosomes and specialized organelles. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Aug 2008]
PHENOTYPE: Homozygous null mice suffer from spontaneous recurrent epileptic seizures, are more susceptible to drug-induced seizures and show impaired GABA release, fewer synaptic vesicles, enhanced long-term potentiation, and abnormal propagation of neuronal excitability via the temporoammonic pathway. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025G04Rik	A	T	1: 151,856,266 (GRCm39)	Y34N	probably damaging	Het
A2m	T	C	6: 121,618,966 (GRCm39)	V237A	probably damaging	Het
A2m	A	T	6: 121,647,895 (GRCm39)	D1129V	possibly damaging	Het
Aadacl2fm3	T	C	3: 59,784,697 (GRCm39)	I390T	probably benign	Het
Abca7	A	G	10: 79,833,846 (GRCm39)		probably null	Het
Adam34l	C	T	8: 44,079,703 (GRCm39)	G174R	probably damaging	Het
Atr	C	T	9: 95,789,436 (GRCm39)	H1531Y	possibly damaging	Het
Carmil3	C	T	14: 55,738,965 (GRCm39)	A873V	probably null	Het
Casp8	A	C	1: 58,872,898 (GRCm39)	K258T	probably benign	Het
Cast	A	G	13: 74,885,084 (GRCm39)	S222P	probably benign	Het
Cpsf7	C	T	19: 10,512,737 (GRCm39)	P274S	probably damaging	Het
Ddx24	A	T	12: 103,382,519 (GRCm39)	L688*	probably null	Het
Ddx59	A	G	1: 136,361,559 (GRCm39)	I475V	probably benign	Het
Dhx29	T	A	13: 113,081,093 (GRCm39)	S376T	possibly damaging	Het
Dhx57	G	T	17: 80,582,290 (GRCm39)	N438K	probably benign	Het
Dlk1	T	A	12: 109,421,551 (GRCm39)		probably null	Het
Efcab15	T	C	11: 103,091,004 (GRCm39)	M114V	probably benign	Het
Epha6	T	C	16: 59,595,931 (GRCm39)	D920G	probably damaging	Het
Exo5	A	T	4: 120,778,818 (GRCm39)	V349E	probably benign	Het
Fam234b	T	C	6: 135,202,241 (GRCm39)	V321A	possibly damaging	Het
Gbp3	A	G	3: 142,274,822 (GRCm39)	E383G	probably benign	Het
Gga2	T	C	7: 121,596,553 (GRCm39)	N408S	probably benign	Het
Gse1	T	C	8: 121,296,043 (GRCm39)	V532A	unknown	Het
Hnrnpul2	T	C	19: 8,808,673 (GRCm39)	Y712H	probably damaging	Het
Hpca	T	C	4: 129,014,019 (GRCm39)		probably benign	Het
Ifitm3	A	G	7: 140,590,372 (GRCm39)	F63L	probably damaging	Het
Inava	G	T	1: 136,153,135 (GRCm39)	C252*	probably null	Het
Kank1	A	T	19: 25,399,525 (GRCm39)	T940S	probably benign	Het
Klhl9	C	A	4: 88,640,646 (GRCm39)		probably benign	Het
Krt36	T	C	11: 99,993,786 (GRCm39)	M351V	probably benign	Het
Mthfd2	T	C	6: 83,288,830 (GRCm39)	N125D	probably benign	Het
Muc4	C	G	16: 32,575,221 (GRCm39)	Q1269E	probably benign	Het
Ncoa2	A	G	1: 13,247,350 (GRCm39)	S358P	possibly damaging	Het
Nmnat1	T	C	4: 149,557,808 (GRCm39)	H78R	probably benign	Het
Or10s1	T	G	9: 39,986,455 (GRCm39)	L288R	probably damaging	Het
Or5k1	T	C	16: 58,617,343 (GRCm39)	I289V	possibly damaging	Het
Or5m13b	A	T	2: 85,754,146 (GRCm39)	Y178F	probably damaging	Het
Or9r3	A	G	10: 129,948,179 (GRCm39)	M160T	probably benign	Het
Pabpc4	A	T	4: 123,186,685 (GRCm39)	D302V	possibly damaging	Het
Pgap1	A	T	1: 54,582,345 (GRCm39)	S167R	probably damaging	Het
Phf12	T	C	11: 77,914,109 (GRCm39)	L517P	probably benign	Het
Rcan2	A	G	17: 44,328,689 (GRCm39)	D86G	probably benign	Het
Ryk	T	C	9: 102,775,715 (GRCm39)	Y442H	probably damaging	Het
Scfd2	G	T	5: 74,623,271 (GRCm39)	Q421K	probably benign	Het
Sirpa	G	T	2: 129,451,072 (GRCm39)	V111F	probably damaging	Het
Skint4	A	T	4: 111,975,468 (GRCm39)	T143S	possibly damaging	Het
Slc12a8	C	A	16: 33,445,494 (GRCm39)	H463N	probably benign	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Sptlc2	A	G	12: 87,388,463 (GRCm39)	Y340H	probably damaging	Het
Ssc5d	T	A	7: 4,945,745 (GRCm39)	W926R	possibly damaging	Het
Tgfa	A	G	6: 86,246,944 (GRCm39)	E82G	probably damaging	Het
Thrsp	A	G	7: 97,066,514 (GRCm39)	I66T	probably damaging	Het
Ttn	T	C	2: 76,681,988 (GRCm39)	E1003G	unknown	Het
Tube1	A	T	10: 39,018,262 (GRCm39)	H113L	probably benign	Het
Uri1	A	G	7: 37,681,053 (GRCm39)	V117A	probably benign	Het
Ush2a	G	A	1: 188,380,606 (GRCm39)	C2305Y	probably damaging	Het
Zbtb7a	T	G	10: 80,980,010 (GRCm39)	V68G	probably damaging	Het
Zfr	T	A	15: 12,159,763 (GRCm39)	D686E	possibly damaging	Het
Zscan4f	G	A	7: 11,135,308 (GRCm39)	S238N	possibly damaging	Het

Other mutations in Ap3m2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00510:Ap3m2	APN	8	23,287,243 (GRCm39)	splice site	probably null
IGL01288:Ap3m2	APN	8	23,293,931 (GRCm39)	missense	probably benign
IGL01391:Ap3m2	APN	8	23,289,663 (GRCm39)	missense	probably benign	0.00
R0599:Ap3m2	UTSW	8	23,283,128 (GRCm39)	missense	possibly damaging	0.88
R1566:Ap3m2	UTSW	8	23,293,967 (GRCm39)	missense	probably damaging	1.00
R1576:Ap3m2	UTSW	8	23,298,483 (GRCm39)	unclassified	probably benign
R2917:Ap3m2	UTSW	8	23,289,815 (GRCm39)	missense	probably benign	0.00
R4884:Ap3m2	UTSW	8	23,293,997 (GRCm39)	missense	probably damaging	1.00
R4995:Ap3m2	UTSW	8	23,293,792 (GRCm39)	missense	probably benign	0.19
R5100:Ap3m2	UTSW	8	23,279,404 (GRCm39)	missense	probably benign
R5738:Ap3m2	UTSW	8	23,293,877 (GRCm39)	missense	possibly damaging	0.52
R7030:Ap3m2	UTSW	8	23,289,807 (GRCm39)	missense	probably damaging	0.99
R7378:Ap3m2	UTSW	8	23,294,026 (GRCm39)	missense	probably benign	0.31
R7732:Ap3m2	UTSW	8	23,287,105 (GRCm39)	missense	probably benign	0.00
R7866:Ap3m2	UTSW	8	23,289,674 (GRCm39)	missense	probably benign	0.02
R8288:Ap3m2	UTSW	8	23,283,153 (GRCm39)	missense	probably benign	0.03
R9181:Ap3m2	UTSW	8	23,289,774 (GRCm39)	missense	probably damaging	1.00
R9358:Ap3m2	UTSW	8	23,280,959 (GRCm39)	missense	possibly damaging	0.53
Z1177:Ap3m2	UTSW	8	23,281,337 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- AAGCAAGGTCCACTCAGTCC -3'
(R):5'- CACCTGCGTTGCTTCTCAAAG -3'

Sequencing Primer
(F):5'- GGTCCACTCAGTCCTCACAG -3'
(R):5'- CTGCGTTGCTTCTCAAAGGAAAC -3'

Posted On

2019-10-24