Mutagenetix > Incidental Mutation

Incidental Mutation 'R7180:Ap2a1'

568514

Institutional Source

Beutler Lab

Gene Symbol

Ap2a1

Ensembl Gene

ENSMUSG00000060279

Gene Name

adaptor-related protein complex 2, alpha 1 subunit

Synonyms

Adtaa

MMRRC Submission

045233-MU

Accession Numbers

Essential gene?

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

Stock #

R7180 (G1)

Quality Score

54.0072

Status

Validated

Chromosome

Chromosomal Location

44549797-44578914 bp(-) (GRCm39)

Type of Mutation

splice site (5476 bp from exon)

DNA Base Change (assembly)

C to T at 44573228 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127497 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085399] [ENSMUST00000107857] [ENSMUST00000166972] [ENSMUST00000167930] [ENSMUST00000208405]

AlphaFold

P17426

Predicted Effect

probably null
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 null
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

probably null
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 null
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: ENSMUST00000208405

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (80/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat2	A	C	4: 49,381,803 (GRCm39)	Y196*	probably null	Het
Agrn	C	T	4: 156,256,296 (GRCm39)	R1405H	probably benign	Het
Agtpbp1	G	A	13: 59,613,852 (GRCm39)	H1030Y	probably benign	Het
Ankrd37	C	T	8: 46,452,891 (GRCm39)		probably benign	Het
Ap1g2	G	C	14: 55,341,908 (GRCm39)	P218R	probably damaging	Het
Apc2	T	A	10: 80,146,990 (GRCm39)	D681E	possibly damaging	Het
Arhgef5	T	A	6: 43,252,142 (GRCm39)	N964K	possibly damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
Ccnf	T	A	17: 24,442,889 (GRCm39)	M773L	probably benign	Het
Ces1e	A	C	8: 93,941,772 (GRCm39)	S234A	probably damaging	Het
Ces1g	T	A	8: 94,029,576 (GRCm39)	E552V	probably benign	Het
Ctcfl	A	T	2: 172,947,770 (GRCm39)		probably null	Het
Dkk2	T	A	3: 131,791,953 (GRCm39)	S54T	probably damaging	Het
Dll1	A	G	17: 15,595,131 (GRCm39)	S49P	probably benign	Het
Dscam	C	A	16: 96,626,764 (GRCm39)	A382S	probably damaging	Het
Eif4a3l1	T	A	6: 136,306,535 (GRCm39)	I332N	probably damaging	Het
Eif5b	A	T	1: 38,088,155 (GRCm39)	M1020L	probably damaging	Het
Elp1	A	T	4: 56,796,535 (GRCm39)	S118R	probably damaging	Het
Enpp4	T	C	17: 44,412,928 (GRCm39)	D202G	probably benign	Het
Eps8	A	T	6: 137,456,072 (GRCm39)	I803N	possibly damaging	Het
Etv2	C	A	7: 30,335,074 (GRCm39)	G28V	probably damaging	Het
Fadd	A	T	7: 144,134,522 (GRCm39)	V121E	probably damaging	Het
Fam149b	T	C	14: 20,431,853 (GRCm39)	Y545H	probably benign	Het
Fbxl21	A	T	13: 56,671,340 (GRCm39)	M1L	probably benign	Het
Flg2	T	C	3: 93,110,140 (GRCm39)	S723P	unknown	Het
Gm4884	C	T	7: 40,693,633 (GRCm39)	T534I	possibly damaging	Het
Gpbar1	A	T	1: 74,317,792 (GRCm39)	I12F	possibly damaging	Het
Gpr151	A	T	18: 42,712,021 (GRCm39)	L219*	probably null	Het
Hdgfl2	T	A	17: 56,404,532 (GRCm39)		probably null	Het
Hectd4	A	G	5: 121,446,405 (GRCm39)	M200V	probably benign	Het
Idua	A	G	5: 108,828,761 (GRCm39)	N335S	probably benign	Het
Ifit1bl1	A	T	19: 34,571,302 (GRCm39)	F385Y	probably damaging	Het
Ift172	T	C	5: 31,411,606 (GRCm39)	D1624G	probably damaging	Het
Igsf9b	A	T	9: 27,233,964 (GRCm39)	T388S	possibly damaging	Het
Insyn2b	A	G	11: 34,369,873 (GRCm39)	K526E	probably damaging	Het
Jak2	A	G	19: 29,259,811 (GRCm39)	I237V	probably benign	Het
Kat5	C	A	19: 5,653,989 (GRCm39)	K398N	probably damaging	Het
Lmbrd2	T	A	15: 9,175,283 (GRCm39)	V398E	possibly damaging	Het
Lrp1	T	C	10: 127,392,834 (GRCm39)	N2744D	probably damaging	Het
Lrrd1	T	C	5: 3,901,459 (GRCm39)	I588T	probably damaging	Het
Ltn1	A	G	16: 87,215,382 (GRCm39)	F418L	probably damaging	Het
Magi1	T	A	6: 93,792,731 (GRCm39)	D169V	probably benign	Het
Mpdz	T	C	4: 81,253,988 (GRCm39)	E1048G	probably damaging	Het
Myh9	T	C	15: 77,692,110 (GRCm39)	I150V	probably benign	Het
Nckap1	A	T	2: 80,337,236 (GRCm39)	M1006K	probably benign	Het
Nkain1	C	T	4: 130,533,925 (GRCm38)	V132I	probably benign	Het
Npy6r	A	T	18: 44,409,223 (GRCm39)	M215L	probably benign	Het
Nr3c2	A	T	8: 77,635,592 (GRCm39)	Q231L	probably damaging	Het
Obox5	C	T	7: 15,491,849 (GRCm39)	P88L	probably benign	Het
Or10a48	A	G	7: 108,425,186 (GRCm39)	S7P	probably damaging	Het
Or9k7	T	C	10: 130,046,811 (GRCm39)	T63A	probably benign	Het
P2rx7	A	G	5: 122,818,883 (GRCm39)	D435G	possibly damaging	Het
Pdzd2	T	A	15: 12,376,209 (GRCm39)	S1309C	probably damaging	Het
Pex5l	C	T	3: 33,078,840 (GRCm39)		probably null	Het
Pip	T	A	6: 41,824,565 (GRCm39)	C18S	probably damaging	Het
Pla2g7	C	T	17: 43,909,967 (GRCm39)	T157M	probably damaging	Het
Plce1	A	G	19: 38,768,229 (GRCm39)	Y2168C	probably damaging	Het
Rgs2	T	C	1: 143,877,886 (GRCm39)	T137A	probably benign	Het
Rpl32	T	A	6: 115,784,768 (GRCm39)	I31F	possibly damaging	Het
Ryr2	T	C	13: 11,701,864 (GRCm39)	Y2931C	probably damaging	Het
Slc4a4	G	A	5: 89,194,095 (GRCm39)	E192K	probably damaging	Het
Slc4a7	G	A	14: 14,765,580 (GRCm38)	A521T	probably damaging	Het
Smchd1	T	C	17: 71,701,818 (GRCm39)	E1058G	probably damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Ssc5d	A	G	7: 4,939,600 (GRCm39)	T679A	probably benign	Het
Tas2r130	A	C	6: 131,607,211 (GRCm39)	S195A	probably benign	Het
Tas2r135	C	T	6: 42,382,685 (GRCm39)	R75*	probably null	Het
Terf2ip	G	T	8: 112,738,052 (GRCm39)		probably benign	Het
Tm6sf2	G	A	8: 70,528,656 (GRCm39)	R136K	probably benign	Het
Tmprss15	A	G	16: 78,764,886 (GRCm39)	L858P	probably damaging	Het
Topaz1	A	G	9: 122,626,770 (GRCm39)	D1466G	possibly damaging	Het
Trip4	A	T	9: 65,764,627 (GRCm39)	L446Q	probably damaging	Het
Trpv3	G	T	11: 73,168,818 (GRCm39)	V93L	probably benign	Het
Ubl4b	A	T	3: 107,461,962 (GRCm39)	H99Q	probably damaging	Het
Unc45a	A	T	7: 79,979,569 (GRCm39)		probably null	Het
Vmn1r47	G	T	6: 89,999,335 (GRCm39)	A156S	probably damaging	Het
Vmn2r33	T	A	7: 7,566,896 (GRCm39)	H72L	probably benign	Het
Zeb1	G	A	18: 5,767,867 (GRCm39)	V793M	possibly damaging	Het
Zfp628	C	A	7: 4,924,063 (GRCm39)	Q762K	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
R4669:Ap2a1	UTSW	7	44,552,343 (GRCm39)	unclassified	probably benign
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
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'- TTCAGATGATGCATGCAGATTTTAG -3'
(R):5'- TGCTCTCTCCAGCCCAAAG -3'

Sequencing Primer
(F):5'- AGTGTCTGATAATCTGACCTAGGATG -3'
(R):5'- AGTCAGTGCTCTTAACCGCTGAG -3'

Posted On

2019-08-15