Mutagenetix > Incidental Mutation

Incidental Mutation 'R5517:Ap2a1'

431346

Institutional Source

Beutler Lab

Gene Symbol

Ap2a1

Ensembl Gene

ENSMUSG00000060279

Gene Name

adaptor-related protein complex 2, alpha 1 subunit

Synonyms

Adtaa

MMRRC Submission

043076-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.305) question?

Stock #

R5517 (G1)

Quality Score

140

Status

Validated

Chromosome

Chromosomal Location

44900373-44929496 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44906981 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 273 (D273G)

Ref Sequence

ENSEMBL: ENSMUSP00000127497 (fasta)

Gene Model

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

AlphaFold

P17426

Predicted Effect

possibly damaging
Transcript: ENSMUST00000085399
AA Change: D273G

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000082519
Gene: ENSMUSG00000060279
AA Change: D273G

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

possibly damaging
Transcript: ENSMUST00000107857
AA Change: D273G

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103489
Gene: ENSMUSG00000060279
AA Change: D273G

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

possibly damaging
Transcript: ENSMUST00000166972
AA Change: D273G

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127842
Gene: ENSMUSG00000060279
AA Change: D273G

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

possibly damaging
Transcript: ENSMUST00000167930
AA Change: D273G

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127497
Gene: ENSMUSG00000060279
AA Change: D273G

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

noncoding transcript
Transcript: ENSMUST00000207426

Predicted Effect

probably benign
Transcript: ENSMUST00000207814

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208291

Predicted Effect

probably benign
Transcript: ENSMUST00000208472

Meta Mutation Damage Score

0.6716

Coding Region Coverage

1x: 98.5%
3x: 97.4%
10x: 95.2%
20x: 90.5%

Validation Efficiency

99% (67/68)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	C	T	17: 35,958,341	R675K	possibly damaging	Het
Aire	A	T	10: 78,039,691	S282T	probably benign	Het
Ak9	A	G	10: 41,340,891	E283G	probably benign	Het
Akap2	T	C	4: 57,855,987	Y439H	probably damaging	Het
Akap9	T	A	5: 4,001,665	D1477E	possibly damaging	Het
Apob	T	C	12: 7,990,906	L664P	probably damaging	Het
Arhgap35	A	T	7: 16,563,489	F550L	probably damaging	Het
Armc2	T	C	10: 41,963,850	E373G	probably benign	Het
Atp8b2	C	A	3: 89,946,031	A726S	probably benign	Het
C030048H21Rik	T	A	2: 26,255,887	Q87L	probably damaging	Het
Cd244	T	A	1: 171,577,974		probably benign	Het
Cdk10	T	A	8: 123,230,587		probably null	Het
Cenpe	C	A	3: 135,223,265	P310Q	probably damaging	Het
Chuk	T	A	19: 44,097,533		probably null	Het
Crebl2	T	C	6: 134,851,176	S104P	probably benign	Het
Ddo	A	G	10: 40,647,730	K239E	probably benign	Het
Defb5	A	G	8: 19,250,852		probably null	Het
Dhx35	T	A	2: 158,834,912	M422K	probably damaging	Het
Fchsd1	C	T	18: 37,959,873		probably benign	Het
Gatm	G	A	2: 122,595,543	T409I	probably damaging	Het
Gdpd1	A	T	11: 87,059,506	D80E	probably damaging	Het
Gspt1	C	A	16: 11,253,979	G7C	unknown	Het
Hells	G	A	19: 38,954,800	S516N	probably benign	Het
Ints1	A	G	5: 139,752,787	S2069P	possibly damaging	Het
Kank4	G	A	4: 98,774,881	T690M	probably damaging	Het
Kcnq4	T	C	4: 120,715,809	N265S	possibly damaging	Het
Kif5b	C	A	18: 6,220,954	A385S	probably benign	Het
Map2	T	C	1: 66,415,256	S1102P	probably benign	Het
Mcm7	A	G	5: 138,164,871	S340P	possibly damaging	Het
Mcrs1	C	T	15: 99,246,995	R246H	possibly damaging	Het
Myo16	T	A	8: 10,560,226	M1189K	probably benign	Het
Olfr1302	G	T	2: 111,780,459	M46I	probably benign	Het
Olfr463	A	T	11: 87,893,066	I286N	probably damaging	Het
Olfr847	G	A	9: 19,375,767	T38I	probably damaging	Het
Otog	A	G	7: 46,274,571	N1118S	probably damaging	Het
Pcdhb7	G	T	18: 37,341,793		probably benign	Het
Picalm	C	T	7: 90,170,598	T189I	possibly damaging	Het
Ptx4	T	A	17: 25,124,786	S337T	possibly damaging	Het
Rad51ap2	C	T	12: 11,458,312	S745L	probably benign	Het
Rspry1	G	A	8: 94,636,760		probably null	Het
Scn5a	T	G	9: 119,495,713	I1350L	probably damaging	Het
Sgk2	T	C	2: 162,997,835	L121P	probably damaging	Het
Slc17a1	A	T	13: 23,872,592		probably benign	Het
Slc6a12	A	G	6: 121,354,339	N183S	probably benign	Het
Smg9	C	A	7: 24,414,913		probably benign	Het
Spred1	G	A	2: 117,177,714	S367N	probably damaging	Het
Srpr	T	C	9: 35,211,350	V21A	probably benign	Het
Taar2	A	T	10: 23,940,729	I56F	possibly damaging	Het
Taf1a	T	G	1: 183,395,985	L67R	probably damaging	Het
Tbc1d10b	C	A	7: 127,198,607	R787S	possibly damaging	Het
Topbp1	T	A	9: 103,336,114	N1044K	probably benign	Het
Usp24	A	G	4: 106,375,674	T886A	probably benign	Het
Vmn2r26	A	G	6: 124,050,717	D472G	probably damaging	Het
Zyg11a	T	C	4: 108,204,746	N286S	possibly damaging	Het

Other mutations in Ap2a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Ap2a1	APN	7	44905768	missense	probably damaging	1.00
IGL01315:Ap2a1	APN	7	44916289	missense	possibly damaging	0.47
IGL01324:Ap2a1	APN	7	44905696	missense	probably damaging	1.00
IGL02545:Ap2a1	APN	7	44906426	missense	probably damaging	1.00
IGL03067:Ap2a1	APN	7	44903511	missense	probably benign
IGL03172:Ap2a1	APN	7	44904055	missense	probably benign	0.00
disaffected	UTSW	7	44916164	missense	probably damaging	1.00
R0233:Ap2a1	UTSW	7	44915973	missense	probably damaging	1.00
R0233:Ap2a1	UTSW	7	44915973	missense	probably damaging	1.00
R0546:Ap2a1	UTSW	7	44904708	missense	probably damaging	0.97
R1103:Ap2a1	UTSW	7	44904169	unclassified	probably benign
R1566:Ap2a1	UTSW	7	44903480	missense	probably benign	0.02
R1682:Ap2a1	UTSW	7	44915938	missense	probably benign	0.14
R1745:Ap2a1	UTSW	7	44906945	missense	probably damaging	1.00
R1777:Ap2a1	UTSW	7	44904152	missense	probably damaging	1.00
R4627:Ap2a1	UTSW	7	44904419	missense	probably damaging	1.00
R4669:Ap2a1	UTSW	7	44902919	unclassified	probably benign
R4776:Ap2a1	UTSW	7	44901546	unclassified	probably benign
R4909:Ap2a1	UTSW	7	44906381	missense	probably damaging	1.00
R5040:Ap2a1	UTSW	7	44905804	missense	possibly damaging	0.78
R5278:Ap2a1	UTSW	7	44902779	missense	probably benign	0.00
R5310:Ap2a1	UTSW	7	44906065	splice site	probably null
R5635:Ap2a1	UTSW	7	44923901	intron	probably benign
R6002:Ap2a1	UTSW	7	44904395	splice site	probably null
R6083:Ap2a1	UTSW	7	44907751	missense	probably damaging	1.00
R6185:Ap2a1	UTSW	7	44916170	missense	probably damaging	1.00
R6430:Ap2a1	UTSW	7	44903829	missense	probably benign
R6491:Ap2a1	UTSW	7	44916164	missense	probably damaging	1.00
R7058:Ap2a1	UTSW	7	44900791	missense	probably damaging	1.00
R7180:Ap2a1	UTSW	7	44923804	splice site	probably null
R7490:Ap2a1	UTSW	7	44902789	missense	probably benign	0.03
R7765:Ap2a1	UTSW	7	44909736	missense	probably damaging	1.00
R7831:Ap2a1	UTSW	7	44901012	missense	probably damaging	1.00
R8237:Ap2a1	UTSW	7	44900796	missense	probably damaging	1.00
R8334:Ap2a1	UTSW	7	44904711	missense	possibly damaging	0.95
R8540:Ap2a1	UTSW	7	44904326	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCAGCCCCAGGTGTTAGATG -3'
(R):5'- GGAGCCCAGACCTAGAAATTG -3'

Sequencing Primer
(F):5'- AGGTGTTAGATGCCAGCCTC -3'
(R):5'- GCCCAGACCTAGAAATTGCTGATC -3'

Posted On

2016-10-05