Mutagenetix > Incidental Mutation

Incidental Mutation 'R0599:Ap3m2'

55224

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

038788-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0599 (G1)

Quality Score

195

Status

Validated

Chromosome

Chromosomal Location

23277370-23295638 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 23283128 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 208 (A208D)

Ref Sequence

ENSEMBL: ENSMUSP00000147967 (fasta)

Gene Model

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

AlphaFold

Q8R2R9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163739
AA Change: A208D

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128446
Gene: ENSMUSG00000031539
AA Change: A208D

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

noncoding transcript
Transcript: ENSMUST00000210148

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210476

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210656
AA Change: A208D

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

Meta Mutation Damage Score

0.7068

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.0%

Validation Efficiency

98% (80/82)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,529,208 (GRCm39)	L978P	probably damaging	Het
Abcb1a	C	T	5: 8,748,539 (GRCm39)	T290M	probably benign	Het
Abcd3	A	T	3: 121,558,742 (GRCm39)	F585I	probably damaging	Het
Abtb3	G	A	10: 85,494,200 (GRCm39)	G1106D	probably damaging	Het
Acan	A	G	7: 78,761,038 (GRCm39)		probably benign	Het
Anxa6	T	C	11: 54,870,292 (GRCm39)	D667G	possibly damaging	Het
Arhgap17	A	T	7: 122,903,013 (GRCm39)		probably benign	Het
Bptf	A	G	11: 106,959,208 (GRCm39)	V1838A	probably damaging	Het
Brip1	T	A	11: 86,043,563 (GRCm39)	M334L	probably benign	Het
Btbd10	C	T	7: 112,934,516 (GRCm39)		probably benign	Het
Cdh20	C	A	1: 109,980,696 (GRCm39)	T208K	probably damaging	Het
Cnga4	A	G	7: 105,055,025 (GRCm39)	Y100C	probably damaging	Het
Dnah10	G	A	5: 124,878,017 (GRCm39)	V2644M	probably damaging	Het
Dnah9	T	C	11: 65,856,515 (GRCm39)	D2882G	probably damaging	Het
Eapp	T	A	12: 54,732,747 (GRCm39)	K117M	probably damaging	Het
Eml3	T	C	19: 8,916,427 (GRCm39)	V673A	probably benign	Het
Ephb4	G	A	5: 137,368,117 (GRCm39)	C754Y	probably damaging	Het
Eps8l1	A	G	7: 4,480,956 (GRCm39)	D33G	possibly damaging	Het
Farsa	A	G	8: 85,594,212 (GRCm39)	K321E	probably damaging	Het
Fry	G	A	5: 150,360,624 (GRCm39)	R2090Q	probably damaging	Het
Gm10283	A	G	8: 60,954,258 (GRCm39)		probably benign	Het
Grm4	A	G	17: 27,650,464 (GRCm39)	I844T	probably benign	Het
Gtf2h3	A	G	5: 124,726,691 (GRCm39)	D124G	probably benign	Het
Gulo	A	T	14: 66,227,890 (GRCm39)	D347E	probably damaging	Het
Hmcn1	A	G	1: 150,485,552 (GRCm39)	F4350S	possibly damaging	Het
Hspg2	A	G	4: 137,239,712 (GRCm39)	D473G	probably damaging	Het
Il17ra	T	A	6: 120,458,466 (GRCm39)	I539N	probably damaging	Het
Insrr	A	G	3: 87,720,440 (GRCm39)	E1026G	probably damaging	Het
Itga2	A	T	13: 114,993,186 (GRCm39)		probably benign	Het
Kdm1b	A	T	13: 47,212,286 (GRCm39)	D190V	possibly damaging	Het
Lima1	A	T	15: 99,700,040 (GRCm39)	N146K	probably damaging	Het
Mnt	G	T	11: 74,733,122 (GRCm39)	V85L	probably benign	Het
Mon2	T	A	10: 122,861,970 (GRCm39)		probably benign	Het
Mtf1	T	C	4: 124,713,994 (GRCm39)		probably benign	Het
Mylk4	T	C	13: 32,896,737 (GRCm39)		probably null	Het
Myo18b	A	C	5: 113,013,616 (GRCm39)	L780R	probably damaging	Het
Myo1e	A	G	9: 70,283,942 (GRCm39)		probably benign	Het
Obscn	A	G	11: 58,964,522 (GRCm39)	S705P	probably damaging	Het
Ocrl	A	T	X: 47,024,963 (GRCm39)		probably benign	Het
Or1e34	A	T	11: 73,778,730 (GRCm39)	M156K	probably benign	Het
Or4c35	T	C	2: 89,808,545 (GRCm39)	F141S	probably benign	Het
Or51k1	A	T	7: 103,661,395 (GRCm39)	C171*	probably null	Het
Or52ab4	A	G	7: 102,987,393 (GRCm39)	N44S	probably damaging	Het
Otof	T	A	5: 30,528,049 (GRCm39)	K1931N	probably damaging	Het
Plcxd3	A	G	15: 4,546,349 (GRCm39)	S118G	probably damaging	Het
Plcz1	T	A	6: 139,974,268 (GRCm39)	Q58L	probably benign	Het
Proser1	C	A	3: 53,386,485 (GRCm39)	P789Q	probably benign	Het
Rassf4	T	C	6: 116,622,897 (GRCm39)	E38G	probably damaging	Het
Ros1	A	T	10: 51,999,396 (GRCm39)	Y1164N	probably damaging	Het
Rpgrip1l	A	G	8: 92,031,628 (GRCm39)	I83T	probably damaging	Het
Scn9a	T	G	2: 66,357,143 (GRCm39)	K1053Q	probably damaging	Het
Sgsm1	G	T	5: 113,392,894 (GRCm39)	Q1087K	probably damaging	Het
Slc16a10	T	C	10: 40,017,914 (GRCm39)	D40G	probably benign	Het
Slc27a6	A	G	18: 58,689,885 (GRCm39)	D117G	probably damaging	Het
Slc2a9	T	A	5: 38,637,487 (GRCm39)		probably benign	Het
Slc4a1	A	G	11: 102,248,741 (GRCm39)		probably benign	Het
Smarca1	T	A	X: 46,912,303 (GRCm39)	Q982L	probably benign	Het
Sp100	T	A	1: 85,608,831 (GRCm39)	I320N	possibly damaging	Het
Stx8	A	T	11: 68,000,188 (GRCm39)	R209S	probably null	Het
Sulf2	T	C	2: 165,925,799 (GRCm39)	T453A	possibly damaging	Het
Syne2	AGAGTGAG	AGAGTGAGTGAG	12: 76,144,734 (GRCm39)		probably null	Het
Tenm2	T	A	11: 35,915,607 (GRCm39)	I1976F	possibly damaging	Het
Tenm3	G	A	8: 48,730,745 (GRCm39)	S1341L	probably damaging	Het
Tmem130	C	T	5: 144,674,619 (GRCm39)	V369M	probably damaging	Het
Tmem200c	A	G	17: 69,147,506 (GRCm39)	K30E	probably damaging	Het
Tmem225	A	G	9: 40,061,043 (GRCm39)	I117V	possibly damaging	Het
Tmt1a3	A	T	15: 100,233,264 (GRCm39)	N152Y	possibly damaging	Het
Top2a	A	G	11: 98,892,243 (GRCm39)	I1073T	probably damaging	Het
Trps1	A	C	15: 50,695,256 (GRCm39)	Y296*	probably null	Het
Tubg1	T	C	11: 101,016,162 (GRCm39)	M377T	probably benign	Het
Tut7	A	G	13: 59,957,301 (GRCm39)	V7A	probably damaging	Het
Vmn1r35	G	A	6: 66,656,497 (GRCm39)	H58Y	probably benign	Het
Vmn1r56	G	A	7: 5,199,429 (GRCm39)	H63Y	probably benign	Het
Vmn1r75	T	C	7: 11,615,189 (GRCm39)		probably null	Het
Vnn3	T	C	10: 23,741,603 (GRCm39)	S303P	possibly damaging	Het
Wdr49	C	T	3: 75,338,383 (GRCm39)		probably null	Het
Wdr49	T	C	3: 75,357,197 (GRCm39)		probably null	Het
Zzef1	T	C	11: 72,804,004 (GRCm39)	L2582P	probably 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
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
R7602:Ap3m2	UTSW	8	23,282,770 (GRCm39)	missense	probably benign	0.00
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'- CCTTTGAGAAGCAACGCAGGTGAC -3'
(R):5'- GCACTCCATGATGGACAGATGGATG -3'

Sequencing Primer
(F):5'- GCAGGTGACACTTTCACTAAG -3'
(R):5'- ggaggaagggaggaagagag -3'

Posted On

2013-07-11