Mutagenetix > Incidental Mutation

Incidental Mutation 'R4669:Ap2a1'

352264

Institutional Source

Beutler Lab

Gene Symbol

Ap2a1

Ensembl Gene

ENSMUSG00000060279

Gene Name

adaptor-related protein complex 2, alpha 1 subunit

Synonyms

Adtaa

MMRRC Submission

041925-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.400) question?

Stock #

R4669 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44549797-44578914 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 44552343 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146977 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071207] [ENSMUST00000085399] [ENSMUST00000107857] [ENSMUST00000166972] [ENSMUST00000167930] [ENSMUST00000207154] [ENSMUST00000207939] [ENSMUST00000208179] [ENSMUST00000208600] [ENSMUST00000207485] [ENSMUST00000209039] [ENSMUST00000209163]

AlphaFold

P17426

Predicted Effect

probably benign
Transcript: ENSMUST00000071207

SMART Domains

Protein: ENSMUSP00000071194
Gene: ENSMUSG00000011658

Domain	Start	End	E-Value	Type
low complexity region	234	259	N/A	INTRINSIC
low complexity region	292	310	N/A	INTRINSIC
low complexity region	382	391	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000085399

SMART Domains

Protein: ENSMUSP00000082519
Gene: ENSMUSG00000060279

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	29	591	7.5e-150	PFAM
low complexity region	646	657	N/A	INTRINSIC
low complexity region	665	675	N/A	INTRINSIC
low complexity region	699	741	N/A	INTRINSIC
Alpha_adaptinC2	745	858	4.49e-23	SMART
Pfam:Alpha_adaptin_C	864	972	9.4e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107857

SMART Domains

Protein: ENSMUSP00000103489
Gene: ENSMUSG00000060279

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	29	591	7e-150	PFAM
low complexity region	646	657	N/A	INTRINSIC
low complexity region	665	675	N/A	INTRINSIC
low complexity region	706	719	N/A	INTRINSIC
Alpha_adaptinC2	723	836	4.49e-23	SMART
Pfam:Alpha_adaptin_C	842	950	9.1e-46	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000165890
AA Change: V113D

Predicted Effect

probably benign
Transcript: ENSMUST00000166972

SMART Domains

Protein: ENSMUSP00000127842
Gene: ENSMUSG00000060279

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	29	591	2e-149	PFAM
low complexity region	646	657	N/A	INTRINSIC
low complexity region	665	675	N/A	INTRINSIC
low complexity region	699	741	N/A	INTRINSIC
Alpha_adaptinC2	745	858	4.49e-23	SMART
Pfam:Alpha_adaptin_C	864	972	5.4e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167930

SMART Domains

Protein: ENSMUSP00000127497
Gene: ENSMUSG00000060279

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	29	591	7e-150	PFAM
low complexity region	646	657	N/A	INTRINSIC
low complexity region	665	675	N/A	INTRINSIC
low complexity region	706	719	N/A	INTRINSIC
Alpha_adaptinC2	723	836	4.49e-23	SMART
Pfam:Alpha_adaptin_C	842	950	9.1e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207154

Predicted Effect

unknown
Transcript: ENSMUST00000208472
AA Change: V113D

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209067

Predicted Effect

probably benign
Transcript: ENSMUST00000207939

Predicted Effect

probably benign
Transcript: ENSMUST00000208179

Predicted Effect

probably benign
Transcript: ENSMUST00000207814

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207833

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207426

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208291

Predicted Effect

probably benign
Transcript: ENSMUST00000208600

Predicted Effect

probably benign
Transcript: ENSMUST00000208908

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207480

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208484

Predicted Effect

probably benign
Transcript: ENSMUST00000207485

Predicted Effect

probably benign
Transcript: ENSMUST00000209039

Predicted Effect

probably benign
Transcript: ENSMUST00000209163

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha 1 adaptin subunit of the adaptor protein 2 (AP-2) complex found in clathrin coated vesicles. The AP-2 complex is a heterotetramer consisting of two large adaptins (alpha or beta), a medium adaptin (mu), and a small adaptin (sigma). The complex is part of the protein coat on the cytoplasmic face of coated vesicles which links clathrin to receptors in vesicles. Alternative splicing of this gene results in two transcript variants encoding two different isoforms. A third transcript variant has been described, but its full length nature has not been determined. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad8	A	G	9: 26,901,923 (GRCm39)	L147P	probably damaging	Het
Acan	A	G	7: 78,750,890 (GRCm39)	E464G	probably benign	Het
Agap1	A	G	1: 89,765,528 (GRCm39)		probably null	Het
Akap13	A	G	7: 75,378,842 (GRCm39)	T2128A	probably damaging	Het
Arap3	T	C	18: 38,129,307 (GRCm39)	D217G	probably benign	Het
Arl2	C	A	19: 6,184,716 (GRCm39)	R179L	probably damaging	Het
Atg2a	T	A	19: 6,309,017 (GRCm39)		probably null	Het
B3gat1	T	A	9: 26,663,052 (GRCm39)	L6Q	probably benign	Het
Bcl10	A	G	3: 145,636,327 (GRCm39)	N75S	probably damaging	Het
Bmpr2	T	C	1: 59,906,875 (GRCm39)	L656S	probably damaging	Het
Brms1l	A	G	12: 55,888,356 (GRCm39)	E48G	possibly damaging	Het
C2cd2l	A	T	9: 44,226,322 (GRCm39)	N414K	possibly damaging	Het
Capn2	C	T	1: 182,298,345 (GRCm39)	C640Y	probably benign	Het
Ccdc153	G	T	9: 44,157,021 (GRCm39)	R99M	probably damaging	Het
Ccdc51	A	G	9: 108,920,030 (GRCm39)	N142S	probably benign	Het
Cdipt	A	G	7: 126,577,578 (GRCm39)	H108R	possibly damaging	Het
Ceacam20	T	C	7: 19,719,952 (GRCm39)	Y495H	probably damaging	Het
Celf2	T	C	2: 6,726,339 (GRCm39)	I47V	probably benign	Het
Cts3	C	T	13: 61,714,637 (GRCm39)	E223K	probably benign	Het
Cyp2a22	T	C	7: 26,637,280 (GRCm39)	D168G	possibly damaging	Het
Cyp2c67	T	A	19: 39,632,098 (GRCm39)	H90L	probably benign	Het
Ddx4	T	C	13: 112,758,778 (GRCm39)	Y261C	probably damaging	Het
Dnah17	T	C	11: 117,965,119 (GRCm39)	T2308A	probably benign	Het
Dnah6	T	C	6: 73,014,671 (GRCm39)	T3587A	probably damaging	Het
Dpy19l1	C	T	9: 24,343,664 (GRCm39)	V494I	possibly damaging	Het
Dse	T	G	10: 34,029,008 (GRCm39)	Y694S	probably damaging	Het
Emilin3	T	C	2: 160,752,717 (GRCm39)	I78V	probably benign	Het
Esam	T	A	9: 37,447,952 (GRCm39)	Y195*	probably null	Het
Extl3	T	A	14: 65,313,745 (GRCm39)	N479I	possibly damaging	Het
Fat2	A	G	11: 55,202,441 (GRCm39)	V211A	probably benign	Het
Ganc	G	T	2: 120,261,548 (GRCm39)	V343F	probably benign	Het
Ggt5	T	C	10: 75,438,865 (GRCm39)	L121P	probably damaging	Het
Gnmt	A	T	17: 47,037,225 (GRCm39)	C186*	probably null	Het
Gpr75	A	T	11: 30,842,072 (GRCm39)	I326F	probably damaging	Het
Gsdme	C	T	6: 50,185,102 (GRCm39)	V451M	probably damaging	Het
H2-T23	G	T	17: 36,342,690 (GRCm39)	D149E	probably damaging	Het
Hmcn2	G	T	2: 31,325,804 (GRCm39)	R4277L	probably benign	Het
Irf9	C	A	14: 55,843,223 (GRCm39)	H94N	probably benign	Het
Jhy	T	C	9: 40,872,449 (GRCm39)	N20S	probably benign	Het
Klf17	C	A	4: 117,617,568 (GRCm39)	C263F	probably damaging	Het
Lama5	T	C	2: 179,822,430 (GRCm39)	Y2881C	probably damaging	Het
Lig1	T	G	7: 13,044,953 (GRCm39)	I882S	probably damaging	Het
Ltn1	A	T	16: 87,215,375 (GRCm39)	M420K	possibly damaging	Het
Mael	T	C	1: 166,063,077 (GRCm39)	E125G	probably damaging	Het
Mib2	C	T	4: 155,741,872 (GRCm39)	D275N	possibly damaging	Het
Mical3	C	T	6: 120,934,664 (GRCm39)	R1805Q	probably damaging	Het
Mix23	A	G	16: 35,903,089 (GRCm39)	D27G	probably damaging	Het
Mllt10	A	G	2: 18,208,444 (GRCm39)	D158G	probably damaging	Het
Mocs1	A	G	17: 49,761,613 (GRCm39)	D569G	possibly damaging	Het
Msh6	T	C	17: 88,292,234 (GRCm39)	S330P	possibly damaging	Het
Mtmr2	T	C	9: 13,707,260 (GRCm39)	S199P	probably damaging	Het
Ndufaf5	T	C	2: 140,029,675 (GRCm39)	V164A	probably benign	Het
Nek9	T	C	12: 85,360,978 (GRCm39)	E518G	probably benign	Het
Nfatc2	T	C	2: 168,413,410 (GRCm39)	I72V	probably benign	Het
Nlrp9c	C	T	7: 26,074,793 (GRCm39)	A746T	possibly damaging	Het
Nup42	A	G	5: 24,387,415 (GRCm39)	R402G	probably benign	Het
Ogdh	G	T	11: 6,290,600 (GRCm39)	C406F	probably benign	Het
Or3a1d	A	G	11: 74,237,789 (GRCm39)	V207A	probably benign	Het
Or4c120	G	A	2: 89,001,245 (GRCm39)	H104Y	probably damaging	Het
Or8b35	A	T	9: 37,904,381 (GRCm39)	I198F	possibly damaging	Het
Or8g17	T	A	9: 38,930,675 (GRCm39)	Y54F	probably benign	Het
Or8j3	A	T	2: 86,028,277 (GRCm39)	M273K	possibly damaging	Het
Otof	A	G	5: 30,578,318 (GRCm39)		probably null	Het
Pcdhb17	T	C	18: 37,619,259 (GRCm39)	S350P	probably damaging	Het
Phf3	T	C	1: 30,869,027 (GRCm39)	T674A	probably damaging	Het
Pikfyve	T	A	1: 65,289,432 (GRCm39)	C1235S	probably damaging	Het
Ppfia3	T	C	7: 45,001,517 (GRCm39)	E465G	probably damaging	Het
Prkg1	T	A	19: 31,641,639 (GRCm39)	I15F	probably damaging	Het
Rab5c	A	G	11: 100,610,843 (GRCm39)	F22L	probably damaging	Het
Raf1	A	G	6: 115,609,880 (GRCm39)	S220P	probably damaging	Het
Rgl1	T	G	1: 152,397,122 (GRCm39)	R716S	probably damaging	Het
Rhbg	C	A	3: 88,153,273 (GRCm39)	W205L	probably damaging	Het
Rimbp3	A	G	16: 17,027,053 (GRCm39)	E159G	possibly damaging	Het
Ryr1	T	C	7: 28,759,256 (GRCm39)	D3338G	probably null	Het
Sash1	T	C	10: 8,606,149 (GRCm39)	N747S	probably benign	Het
Serpina3g	A	T	12: 104,205,479 (GRCm39)	I73F	probably damaging	Het
Sfxn2	C	A	19: 46,574,213 (GRCm39)	N134K	probably damaging	Het
Slc12a6	A	G	2: 112,184,640 (GRCm39)	H853R	probably damaging	Het
Slc16a12	C	T	19: 34,649,965 (GRCm39)	D357N	probably damaging	Het
Slc39a8	T	C	3: 135,561,772 (GRCm39)	Y164H	probably benign	Het
Snx9	A	G	17: 5,977,499 (GRCm39)	K518E	probably damaging	Het
Spdye4c	G	A	2: 128,434,273 (GRCm39)	V5I	possibly damaging	Het
Spef2	A	G	15: 9,676,459 (GRCm39)	V704A	probably benign	Het
Stard3nl	T	A	13: 19,560,689 (GRCm39)	N29Y	probably damaging	Het
Strap	C	A	6: 137,712,384 (GRCm39)	S11*	probably null	Het
Synpo2	A	G	3: 122,906,712 (GRCm39)	L868P	probably damaging	Het
Tenm2	A	G	11: 35,901,314 (GRCm39)	V2474A	probably damaging	Het
Tm9sf4	T	A	2: 153,029,228 (GRCm39)	V92D	probably damaging	Het
Tmf1	A	T	6: 97,147,388 (GRCm39)	M526K	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Ttc39d	A	G	17: 80,525,068 (GRCm39)	I576V	probably benign	Het
Upk1a	T	G	7: 30,304,554 (GRCm39)	T193P	probably benign	Het
Vmn2r67	A	T	7: 84,799,732 (GRCm39)	V502E	probably benign	Het
Wdr17	A	G	8: 55,143,083 (GRCm39)	V189A	possibly damaging	Het
Wrap73	A	T	4: 154,236,153 (GRCm39)	S161C	probably benign	Het
Zfp568	A	G	7: 29,722,702 (GRCm39)	H549R	probably damaging	Het
Zfp605	T	A	5: 110,275,227 (GRCm39)	M115K	possibly damaging	Het
Zp1	T	A	19: 10,896,269 (GRCm39)	H152L	probably benign	Het

Other mutations in Ap2a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Ap2a1	APN	7	44,555,192 (GRCm39)	missense	probably damaging	1.00
IGL01315:Ap2a1	APN	7	44,565,713 (GRCm39)	missense	possibly damaging	0.47
IGL01324:Ap2a1	APN	7	44,555,120 (GRCm39)	missense	probably damaging	1.00
IGL02545:Ap2a1	APN	7	44,555,850 (GRCm39)	missense	probably damaging	1.00
IGL03067:Ap2a1	APN	7	44,552,935 (GRCm39)	missense	probably benign
IGL03172:Ap2a1	APN	7	44,553,479 (GRCm39)	missense	probably benign	0.00
disaffected	UTSW	7	44,565,588 (GRCm39)	missense	probably damaging	1.00
R0233:Ap2a1	UTSW	7	44,565,397 (GRCm39)	missense	probably damaging	1.00
R0233:Ap2a1	UTSW	7	44,565,397 (GRCm39)	missense	probably damaging	1.00
R0546:Ap2a1	UTSW	7	44,554,132 (GRCm39)	missense	probably damaging	0.97
R1103:Ap2a1	UTSW	7	44,553,593 (GRCm39)	unclassified	probably benign
R1566:Ap2a1	UTSW	7	44,552,904 (GRCm39)	missense	probably benign	0.02
R1682:Ap2a1	UTSW	7	44,565,362 (GRCm39)	missense	probably benign	0.14
R1745:Ap2a1	UTSW	7	44,556,369 (GRCm39)	missense	probably damaging	1.00
R1777:Ap2a1	UTSW	7	44,553,576 (GRCm39)	missense	probably damaging	1.00
R4627:Ap2a1	UTSW	7	44,553,843 (GRCm39)	missense	probably damaging	1.00
R4776:Ap2a1	UTSW	7	44,550,970 (GRCm39)	unclassified	probably benign
R4909:Ap2a1	UTSW	7	44,555,805 (GRCm39)	missense	probably damaging	1.00
R5040:Ap2a1	UTSW	7	44,555,228 (GRCm39)	missense	possibly damaging	0.78
R5278:Ap2a1	UTSW	7	44,552,203 (GRCm39)	missense	probably benign	0.00
R5310:Ap2a1	UTSW	7	44,555,489 (GRCm39)	splice site	probably null
R5517:Ap2a1	UTSW	7	44,556,405 (GRCm39)	missense	possibly damaging	0.93
R5635:Ap2a1	UTSW	7	44,573,325 (GRCm39)	intron	probably benign
R6002:Ap2a1	UTSW	7	44,553,819 (GRCm39)	splice site	probably null
R6083:Ap2a1	UTSW	7	44,557,175 (GRCm39)	missense	probably damaging	1.00
R6185:Ap2a1	UTSW	7	44,565,594 (GRCm39)	missense	probably damaging	1.00
R6430:Ap2a1	UTSW	7	44,553,253 (GRCm39)	missense	probably benign
R6491:Ap2a1	UTSW	7	44,565,588 (GRCm39)	missense	probably damaging	1.00
R7058:Ap2a1	UTSW	7	44,550,215 (GRCm39)	missense	probably damaging	1.00
R7180:Ap2a1	UTSW	7	44,573,228 (GRCm39)	splice site	probably null
R7490:Ap2a1	UTSW	7	44,552,213 (GRCm39)	missense	probably benign	0.03
R7765:Ap2a1	UTSW	7	44,559,160 (GRCm39)	missense	probably damaging	1.00
R7831:Ap2a1	UTSW	7	44,550,436 (GRCm39)	missense	probably damaging	1.00
R8237:Ap2a1	UTSW	7	44,550,220 (GRCm39)	missense	probably damaging	1.00
R8334:Ap2a1	UTSW	7	44,554,135 (GRCm39)	missense	possibly damaging	0.95
R8540:Ap2a1	UTSW	7	44,553,750 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATATGAGTCTGGAGGTCCCC -3'
(R):5'- AACTGTTGAATAAGTGAGTTCTGGG -3'

Sequencing Primer
(F):5'- TCCCCAGGATGGACCAC -3'
(R):5'- GGGAACACAGGAGCCCTC -3'

Posted On

2015-10-08