Mutagenetix > Incidental Mutation

Incidental Mutation 'R0233:Ap2a1'

58890

Institutional Source

Beutler Lab

Gene Symbol

Ap2a1

Ensembl Gene

ENSMUSG00000060279

Gene Name

adaptor-related protein complex 2, alpha 1 subunit

Synonyms

Adtaa

MMRRC Submission

038474-MU

Accession Numbers

Essential gene?

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

Stock #

R0233 (G1)

Quality Score

172

Status

Validated

Chromosome

Chromosomal Location

44549797-44578914 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44565397 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 114 (N114S)

Ref Sequence

ENSEMBL: ENSMUSP00000127497 (fasta)

Gene Model

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

AlphaFold

P17426

Predicted Effect

probably damaging
Transcript: ENSMUST00000085399
AA Change: N114S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000082519
Gene: ENSMUSG00000060279
AA Change: N114S

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: N114S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103489
Gene: ENSMUSG00000060279
AA Change: N114S

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: N114S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000127842
Gene: ENSMUSG00000060279
AA Change: N114S

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: N114S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000127497
Gene: ENSMUSG00000060279
AA Change: N114S

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: ENSMUST00000207554

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208285

Predicted Effect

probably benign
Transcript: ENSMUST00000208405

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208813

Meta Mutation Damage Score

0.7749

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.4%

Validation Efficiency

99% (93/94)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,385,330 (GRCm39)	S212P	probably benign	Het
A730018C14Rik	A	C	12: 112,381,864 (GRCm39)		noncoding transcript	Het
Acsf3	A	G	8: 123,507,031 (GRCm39)	Y108C	probably damaging	Het
Acsl1	A	G	8: 46,966,606 (GRCm39)		probably benign	Het
Adad1	T	A	3: 37,139,097 (GRCm39)	I389N	possibly damaging	Het
Ankrd27	T	C	7: 35,300,985 (GRCm39)	L95P	probably damaging	Het
Ano5	T	C	7: 51,185,218 (GRCm39)	F46S	possibly damaging	Het
Arap1	C	T	7: 101,049,448 (GRCm39)	S970L	possibly damaging	Het
Atad3a	A	T	4: 155,830,524 (GRCm39)	S525T	probably damaging	Het
B4galnt1	T	C	10: 127,006,780 (GRCm39)		probably benign	Het
Bltp1	T	A	3: 37,002,712 (GRCm39)	C1552*	probably null	Het
Cacna2d2	A	T	9: 107,391,869 (GRCm39)	I463F	probably damaging	Het
Casp6	T	A	3: 129,699,624 (GRCm39)	N34K	probably damaging	Het
Ccdc175	A	T	12: 72,152,650 (GRCm39)	F752I	probably benign	Het
Cdhr4	A	G	9: 107,874,133 (GRCm39)	I76V	probably benign	Het
Copa	T	C	1: 171,915,234 (GRCm39)		probably null	Het
Cox11	C	T	11: 90,535,326 (GRCm39)	T259I	probably damaging	Het
Cuzd1	C	A	7: 130,913,545 (GRCm39)	K357N	possibly damaging	Het
Dnah5	T	A	15: 28,333,216 (GRCm39)	F2206I	probably damaging	Het
Dnase2b	T	A	3: 146,288,305 (GRCm39)	K263N	probably benign	Het
Dync1h1	T	A	12: 110,607,414 (GRCm39)	D2668E	probably benign	Het
Eno1b	T	C	18: 48,180,806 (GRCm39)	I328T	probably benign	Het
Fam124b	T	C	1: 80,190,703 (GRCm39)	S227G	probably damaging	Het
Fam13b	T	A	18: 34,581,137 (GRCm39)	Y675F	probably damaging	Het
Fgf21	T	A	7: 45,264,721 (GRCm39)	M4L	probably benign	Het
Flg2	T	A	3: 93,109,104 (GRCm39)	C377*	probably null	Het
Foxp2	T	C	6: 15,409,752 (GRCm39)	S451P	probably damaging	Het
Gli2	A	T	1: 118,763,655 (GRCm39)	S1499T	probably damaging	Het
Gm9920	A	T	15: 54,975,857 (GRCm39)		probably benign	Het
Gpx5	T	A	13: 21,471,573 (GRCm39)	D210V	probably damaging	Het
H2-T5	A	G	17: 36,478,361 (GRCm39)	Y224H	probably benign	Het
Hoxb5	T	A	11: 96,195,853 (GRCm39)	S234T	probably benign	Het
Irf9	C	A	14: 55,843,551 (GRCm39)	N140K	probably benign	Het
Isg20	C	A	7: 78,566,334 (GRCm39)	D94E	probably damaging	Het
Isg20	C	T	7: 78,564,243 (GRCm39)	T50M	probably damaging	Het
Izumo1	T	C	7: 45,273,592 (GRCm39)	L115P	probably damaging	Het
Kdm3b	G	A	18: 34,942,473 (GRCm39)	E655K	probably damaging	Het
Kdm5b	T	G	1: 134,532,372 (GRCm39)		probably benign	Het
Kifc3	A	G	8: 95,828,100 (GRCm39)		probably null	Het
Kpna2	T	C	11: 106,883,457 (GRCm39)	S111G	probably benign	Het
Krt73	A	T	15: 101,710,451 (GRCm39)	N94K	probably benign	Het
Lgmn	G	T	12: 102,366,248 (GRCm39)	D247E	probably damaging	Het
Lilra6	C	T	7: 3,917,935 (GRCm39)	V70I	possibly damaging	Het
Lrig3	G	A	10: 125,849,395 (GRCm39)		probably null	Het
Lrrc4	T	C	6: 28,829,734 (GRCm39)	H627R	probably benign	Het
Macf1	G	A	4: 123,343,920 (GRCm39)		probably benign	Het
Nat9	C	A	11: 115,074,234 (GRCm39)		probably null	Het
Nutm2	A	G	13: 50,621,441 (GRCm39)	D2G	probably benign	Het
Or10j3b	A	T	1: 173,043,868 (GRCm39)	I217F	probably benign	Het
Or5h23	A	T	16: 58,906,038 (GRCm39)	D269E	probably benign	Het
Or5w8	A	G	2: 87,688,096 (GRCm39)	I192M	probably benign	Het
Parl	G	A	16: 20,106,657 (GRCm39)	P184L	probably damaging	Het
Pdzd8	A	T	19: 59,288,811 (GRCm39)	M863K	probably damaging	Het
Phlda3	T	C	1: 135,694,559 (GRCm39)	S125P	probably damaging	Het
Pkd1l3	A	T	8: 110,377,412 (GRCm39)	R217*	probably null	Het
Plekhg5	T	C	4: 152,196,676 (GRCm39)	C695R	probably damaging	Het
Pramel24	A	T	4: 143,452,633 (GRCm39)	E21D	possibly damaging	Het
Prg4	T	C	1: 150,329,298 (GRCm39)		probably benign	Het
Prkab1	A	G	5: 116,159,711 (GRCm39)		probably benign	Het
Pyroxd1	A	G	6: 142,300,356 (GRCm39)	E162G	possibly damaging	Het
R3hcc1l	G	A	19: 42,571,360 (GRCm39)		probably null	Het
Rgs12	T	A	5: 35,187,842 (GRCm39)	S500T	probably damaging	Het
Ripor3	T	C	2: 167,834,518 (GRCm39)	D299G	probably damaging	Het
Robo4	T	C	9: 37,313,977 (GRCm39)	L76P	probably damaging	Het
Sbno1	T	C	5: 124,514,289 (GRCm39)	Y1302C	probably damaging	Het
Sec63	A	G	10: 42,699,904 (GRCm39)	I655V	possibly damaging	Het
Serpina11	T	A	12: 103,946,729 (GRCm39)	M389L	probably benign	Het
Sfswap	C	A	5: 129,631,607 (GRCm39)	P745Q	possibly damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slitrk3	C	T	3: 72,955,910 (GRCm39)	S954N	probably benign	Het
Sorbs2	A	G	8: 46,222,866 (GRCm39)	T190A	probably damaging	Het
Sos2	A	T	12: 69,664,104 (GRCm39)	I460N	probably benign	Het
Spink7	T	A	18: 62,727,423 (GRCm39)	I34L	probably benign	Het
Srbd1	A	G	17: 86,365,173 (GRCm39)	S628P	probably damaging	Het
Srm	G	A	4: 148,677,829 (GRCm39)	G156S	probably damaging	Het
Sulf2	T	C	2: 165,927,589 (GRCm39)		probably benign	Het
Tmc4	T	A	7: 3,669,866 (GRCm39)	Y6F	probably benign	Het
Tmcc2	A	G	1: 132,288,389 (GRCm39)	F433L	probably damaging	Het
Tmprss13	T	G	9: 45,248,398 (GRCm39)		probably benign	Het
Tnxb	T	C	17: 34,918,007 (GRCm39)	F2307L	probably benign	Het
Tsr3	A	G	17: 25,461,484 (GRCm39)	E274G	probably benign	Het
Ttn	T	C	2: 76,725,488 (GRCm39)		probably benign	Het
Tub	T	C	7: 108,628,548 (GRCm39)	V352A	possibly damaging	Het
Tubb2a	A	G	13: 34,259,325 (GRCm39)	I155T	possibly damaging	Het
Ugt2a2	T	C	5: 87,622,860 (GRCm39)	N36S	probably damaging	Het
Usp13	T	A	3: 32,969,813 (GRCm39)		probably null	Het
Vmn1r52	T	G	6: 90,156,593 (GRCm39)	L120R	possibly damaging	Het
Vmn2r11	A	T	5: 109,201,968 (GRCm39)	S179T	probably benign	Het
Vwf	A	T	6: 125,663,473 (GRCm39)	R2805W	possibly damaging	Het
Wdr7	A	G	18: 64,037,172 (GRCm39)	T1199A	probably benign	Het
Zfp286	T	C	11: 62,671,219 (GRCm39)	T285A	possibly damaging	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
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
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'- TTCCTGGCTGCAACACTGAGACTG -3'
(R):5'- GCCGTGAACCTGCTAAGCTCTAAC -3'

Sequencing Primer
(F):5'- ACCAGTGTCAGCCATCAGTG -3'
(R):5'- TGCTAAGCTCTAACAAGTACACGG -3'

Posted On

2013-07-11