Mutagenetix > Incidental Mutation

Incidental Mutation 'R0546:Ap2a1'

44825

Institutional Source

Beutler Lab

Gene Symbol

Ap2a1

Ensembl Gene

ENSMUSG00000060279

Gene Name

adaptor-related protein complex 2, alpha 1 subunit

Synonyms

Adtaa

MMRRC Submission

038738-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.371) question?

Stock #

R0546 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44549797-44578914 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 44554132 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 500 (G500S)

Ref Sequence

ENSEMBL: ENSMUSP00000127497 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000085399
AA Change: G500S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000082519
Gene: ENSMUSG00000060279
AA Change: G500S

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 damaging
Transcript: ENSMUST00000107857
AA Change: G500S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103489
Gene: ENSMUSG00000060279
AA Change: G500S

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 damaging
Transcript: ENSMUST00000166972
AA Change: G500S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000127842
Gene: ENSMUSG00000060279
AA Change: G500S

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 damaging
Transcript: ENSMUST00000167930
AA Change: G500S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000127497
Gene: ENSMUSG00000060279
AA Change: G500S

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

noncoding transcript
Transcript: ENSMUST00000207480

Predicted Effect

probably benign
Transcript: ENSMUST00000207814

Predicted Effect

probably benign
Transcript: ENSMUST00000208472

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208291

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209067

Predicted Effect

probably benign
Transcript: ENSMUST00000208179

Predicted Effect

probably benign
Transcript: ENSMUST00000209039

Predicted Effect

probably benign
Transcript: ENSMUST00000207485

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207833

Meta Mutation Damage Score

0.3849

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 95.0%

Validation Efficiency

99% (74/75)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	G	6: 23,077,076 (GRCm39)		probably null	Het
Actn1	C	T	12: 80,225,208 (GRCm39)	R418Q	probably benign	Het
Adam39	G	A	8: 41,279,468 (GRCm39)	V620M	probably damaging	Het
Agr3	C	A	12: 35,978,329 (GRCm39)	T14K	probably benign	Het
Alpk2	T	C	18: 65,439,788 (GRCm39)	D1002G	probably benign	Het
Amz2	T	A	11: 109,324,780 (GRCm39)	N221K	probably benign	Het
Aox4	A	G	1: 58,289,333 (GRCm39)	E752G	probably damaging	Het
Car5b	G	A	X: 162,762,297 (GRCm39)	R282C	probably damaging	Het
Ccdc112	A	G	18: 46,424,139 (GRCm39)	S200P	possibly damaging	Het
Ccdc18	A	T	5: 108,322,830 (GRCm39)	E643D	probably benign	Het
Ccdc180	A	T	4: 45,904,597 (GRCm39)	T398S	possibly damaging	Het
Cnp	A	G	11: 100,471,549 (GRCm39)	Y397C	probably damaging	Het
Cpa4	T	C	6: 30,580,962 (GRCm39)	W184R	probably damaging	Het
Crebbp	A	T	16: 3,903,671 (GRCm39)	I1856N	probably damaging	Het
Ctrl	A	G	8: 106,658,966 (GRCm39)	I200T	probably damaging	Het
Cyfip1	C	T	7: 55,572,564 (GRCm39)	R934*	probably null	Het
Dennd5a	A	G	7: 109,520,633 (GRCm39)	V408A	probably benign	Het
Dhfr	G	A	13: 92,504,692 (GRCm39)		probably null	Het
Dnajc6	A	T	4: 101,492,388 (GRCm39)	N740Y	probably damaging	Het
Fam110a	T	C	2: 151,812,732 (GRCm39)	T13A	probably benign	Het
Fars2	G	T	13: 36,388,569 (GRCm39)	K19N	probably benign	Het
Fer1l6	A	T	15: 58,430,257 (GRCm39)		probably null	Het
Gabra1	T	A	11: 42,053,428 (GRCm39)	T69S	probably damaging	Het
Galnt18	T	G	7: 111,107,348 (GRCm39)	N475T	probably damaging	Het
Gbp4	T	C	5: 105,268,836 (GRCm39)	Y439C	probably damaging	Het
Gpatch2l	A	G	12: 86,335,622 (GRCm39)	*409W	probably null	Het
Hip1r	T	C	5: 124,137,114 (GRCm39)	V658A	possibly damaging	Het
Hspg2	A	G	4: 137,229,605 (GRCm39)	D73G	probably benign	Het
Ifitm2	A	G	7: 140,535,656 (GRCm39)	V58A	possibly damaging	Het
Ift172	T	C	5: 31,414,945 (GRCm39)	D1359G	probably benign	Het
Ing1	A	G	8: 11,607,031 (GRCm39)	D41G	probably damaging	Het
Itgal	C	T	7: 126,909,486 (GRCm39)	T446I	probably benign	Het
Itgav	G	T	2: 83,633,586 (GRCm39)	M978I	probably benign	Het
Jazf1	A	G	6: 52,754,681 (GRCm39)	Y132H	possibly damaging	Het
Lgr4	T	A	2: 109,829,766 (GRCm39)	N211K	probably damaging	Het
Mgat4d	A	G	8: 84,082,350 (GRCm39)	N100S	possibly damaging	Het
Mrgprb3	T	C	7: 48,293,263 (GRCm39)	Y96C	probably damaging	Het
Myh11	A	C	16: 14,023,492 (GRCm39)	L1562R	probably damaging	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
Myo15a	A	G	11: 60,397,139 (GRCm39)	Y2667C	probably damaging	Het
Or14j7	T	A	17: 38,235,229 (GRCm39)	C257*	probably null	Het
Or52ae7	A	G	7: 103,119,907 (GRCm39)	I220M	possibly damaging	Het
Or6c70	G	A	10: 129,710,407 (GRCm39)	T73I	possibly damaging	Het
Or8k37	T	A	2: 86,469,573 (GRCm39)	T160S	possibly damaging	Het
Or8k38	C	T	2: 86,488,235 (GRCm39)	C189Y	possibly damaging	Het
Or9m2	T	A	2: 87,820,816 (GRCm39)	Y120*	probably null	Het
Paox	G	T	7: 139,711,591 (GRCm39)	G148W	probably damaging	Het
Pkd1	T	C	17: 24,799,112 (GRCm39)	V2777A	probably benign	Het
Plod2	T	A	9: 92,477,388 (GRCm39)	V360E	probably damaging	Het
Prune2	T	C	19: 16,998,030 (GRCm39)		probably benign	Het
Sbds	G	T	5: 130,282,919 (GRCm39)	A3D	possibly damaging	Het
Sec23a	T	C	12: 59,031,953 (GRCm39)	T426A	probably benign	Het
Sec31a	T	C	5: 100,551,929 (GRCm39)	Y148C	probably damaging	Het
Shprh	T	A	10: 11,059,631 (GRCm39)		probably benign	Het
Slc16a7	A	G	10: 125,066,742 (GRCm39)	V299A	probably benign	Het
Smg8	T	C	11: 86,974,439 (GRCm39)	Y174C	possibly damaging	Het
Snx22	T	A	9: 65,976,059 (GRCm39)	Y58F	probably damaging	Het
Snx25	A	G	8: 46,556,667 (GRCm39)	Y308H	probably benign	Het
St3gal2	A	G	8: 111,696,738 (GRCm39)		probably null	Het
Stab1	C	T	14: 30,861,507 (GRCm39)	R2500H	possibly damaging	Het
Steap4	T	C	5: 8,025,870 (GRCm39)	S144P	probably damaging	Het
Stfa3	T	A	16: 36,272,619 (GRCm39)		probably benign	Het
Tmprss9	C	A	10: 80,735,157 (GRCm39)	Q1095K	probably benign	Het
Top2a	A	G	11: 98,890,052 (GRCm39)	V1217A	possibly damaging	Het
Trhr2	A	G	8: 123,085,228 (GRCm39)		probably null	Het
Trim7	A	G	11: 48,736,336 (GRCm39)	E23G	probably damaging	Het
Trpv3	A	T	11: 73,188,013 (GRCm39)	E788V	probably damaging	Het
Ttn	A	G	2: 76,575,863 (GRCm39)	I25010T	probably damaging	Het
Ube2ql1	T	C	13: 69,887,419 (GRCm39)	H14R	unknown	Het
Uggt1	C	T	1: 36,235,052 (GRCm39)	R419H	probably benign	Het
Xpo4	A	G	14: 57,850,731 (GRCm39)	V391A	probably benign	Het
Zfhx3	A	G	8: 109,520,819 (GRCm39)	D647G	probably damaging	Het
Zfp354c	A	T	11: 50,706,457 (GRCm39)	M206K	probably benign	Het
Zfp804a	A	G	2: 82,089,264 (GRCm39)	N1031S	possibly damaging	Het
Zfp868	A	G	8: 70,064,882 (GRCm39)	V151A	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
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
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'- ACTTGATGTAGGTGGACAGCAACAG -3'
(R):5'- CCTAAACAGTACCAATGGCAGGGG -3'

Sequencing Primer
(F):5'- GTGTCCTCATGCAGGGGTAAC -3'
(R):5'- caatggcaggggagcaag -3'

Posted On

2013-06-11