Mutagenetix > Incidental Mutation

Incidental Mutation 'R7765:Ap2a1'

598179

Institutional Source

Beutler Lab

Gene Symbol

Ap2a1

Ensembl Gene

ENSMUSG00000060279

Gene Name

adaptor-related protein complex 2, alpha 1 subunit

Synonyms

Adtaa

MMRRC Submission

045821-MU

Accession Numbers

Essential gene?

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

Stock #

R7765 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44549797-44578914 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 44559160 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 189 (T189M)

Ref Sequence

ENSEMBL: ENSMUSP00000127842 (fasta)

Gene Model

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

AlphaFold

P17426

Predicted Effect

probably damaging
Transcript: ENSMUST00000085399
AA Change: T189M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000082519
Gene: ENSMUSG00000060279
AA Change: T189M

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: T189M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103489
Gene: ENSMUSG00000060279
AA Change: T189M

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: T189M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127842
Gene: ENSMUSG00000060279
AA Change: T189M

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: T189M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000127497
Gene: ENSMUSG00000060279
AA Change: T189M

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

Meta Mutation Damage Score

0.6190

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (62/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	T	C	14: 66,297,345 (GRCm39)	E187G	probably damaging	Het
Adam28	C	T	14: 68,846,555 (GRCm39)		probably null	Het
Apaf1	A	G	10: 90,859,644 (GRCm39)	Y845H	probably benign	Het
Asb14	G	T	14: 26,619,718 (GRCm39)	V55F	probably benign	Het
Brap	A	T	5: 121,800,192 (GRCm39)	D71V	probably damaging	Het
Ccdc93	T	G	1: 121,427,042 (GRCm39)	F610V	probably damaging	Het
Cfap46	T	G	7: 139,231,480 (GRCm39)	D911A		Het
Chn2	T	C	6: 54,275,137 (GRCm39)		probably null	Het
Cib3	A	G	8: 72,958,269 (GRCm39)	F156S	probably damaging	Het
Csnk2a1-ps3	G	A	1: 156,352,354 (GRCm39)	G185D	possibly damaging	Het
Ctif	A	T	18: 75,738,715 (GRCm39)	V164D	probably damaging	Het
Ddx27	T	A	2: 166,869,879 (GRCm39)	F405I	probably damaging	Het
Dnttip2	A	G	3: 122,069,594 (GRCm39)	T270A	probably benign	Het
Dst	T	A	1: 34,314,775 (GRCm39)	S4455T	probably damaging	Het
Efcab8	A	G	2: 153,685,110 (GRCm39)	K47R		Het
Efhd2	T	C	4: 141,601,886 (GRCm39)	E98G	probably damaging	Het
Fcmr	T	A	1: 130,802,025 (GRCm39)	L93Q	probably damaging	Het
Fhdc1	T	A	3: 84,351,906 (GRCm39)	E1106D	probably benign	Het
Gcnt1	C	T	19: 17,306,723 (GRCm39)	G334D	probably damaging	Het
Hltf	T	C	3: 20,145,647 (GRCm39)	F488L	probably benign	Het
Hmgxb4	C	A	8: 75,727,436 (GRCm39)	H140N	probably damaging	Het
Ifi214	A	T	1: 173,352,402 (GRCm39)	F342L	probably damaging	Het
Ip6k1	A	G	9: 107,909,288 (GRCm39)	D105G	possibly damaging	Het
Kank1	GCGAACG	GCG	19: 25,388,569 (GRCm39)		probably null	Het
Kif18a	G	A	2: 109,137,285 (GRCm39)	D506N	probably benign	Het
Klf17	T	A	4: 117,617,812 (GRCm39)	M182L	probably benign	Het
Kmt2d	A	G	15: 98,750,215 (GRCm39)	F2493L	unknown	Het
Lefty1	A	G	1: 180,764,112 (GRCm39)	E84G	probably damaging	Het
Lyst	T	G	13: 13,884,117 (GRCm39)	L2975R	possibly damaging	Het
Magea5	G	A	X: 153,837,174 (GRCm39)	P73S	possibly damaging	Het
Mctp2	T	C	7: 71,740,079 (GRCm39)		probably null	Het
Mprip	C	T	11: 59,649,047 (GRCm39)	T917M	possibly damaging	Het
Myh8	T	A	11: 67,194,481 (GRCm39)	I1564N	probably benign	Het
Npc1	A	T	18: 12,328,105 (GRCm39)	M1068K	probably benign	Het
Nr2e1	A	G	10: 42,450,433 (GRCm39)	C60R	probably benign	Het
Nrxn3	A	G	12: 89,780,254 (GRCm39)	I29V	probably benign	Het
Ntsr1	T	A	2: 180,180,610 (GRCm39)	H305Q	probably damaging	Het
Or2y1e	A	G	11: 49,218,571 (GRCm39)	E111G	probably damaging	Het
Or8g35	A	G	9: 39,381,612 (GRCm39)	S137P	probably benign	Het
Or8h10	T	A	2: 86,808,538 (GRCm39)	I201F	probably damaging	Het
Pate2	A	C	9: 35,581,197 (GRCm39)	E22D	probably benign	Het
Pcdhb22	A	G	18: 37,652,158 (GRCm39)	T209A	probably damaging	Het
Pdss2	C	T	10: 43,340,628 (GRCm39)	S352F	probably benign	Het
Pfn3	T	A	13: 55,562,900 (GRCm39)	D27V	probably damaging	Het
Pigg	T	G	5: 108,461,920 (GRCm39)	S84A	probably benign	Het
Prm3	CTCTTCTTCTTCTTC	CTCTTCTTCTTC	16: 10,608,565 (GRCm39)		probably benign	Het
Prss22	C	T	17: 24,213,592 (GRCm39)	G233E	probably damaging	Het
Rad51b	T	C	12: 79,850,044 (GRCm39)		probably null	Het
Scn10a	A	G	9: 119,438,970 (GRCm39)	V1632A	possibly damaging	Het
Serpinb3d	T	G	1: 107,007,512 (GRCm39)	D158A	probably damaging	Het
Sh3yl1	T	C	12: 31,008,868 (GRCm39)	L266P	probably damaging	Het
Sidt2	A	T	9: 45,852,873 (GRCm39)		probably null	Het
Stox1	C	T	10: 62,501,778 (GRCm39)	V261M	probably benign	Het
Taf7l2	T	A	10: 115,949,158 (GRCm39)	K123*	probably null	Het
Tll1	A	G	8: 64,504,483 (GRCm39)	Y638H	probably damaging	Het
Tst	A	T	15: 78,289,816 (GRCm39)	M73K	possibly damaging	Het
Tuba4a	C	T	1: 75,193,003 (GRCm39)	V232M	probably benign	Het
Unk	T	A	11: 115,943,908 (GRCm39)	V343D	probably benign	Het
Usf3	T	C	16: 44,039,426 (GRCm39)	V1302A	probably benign	Het
Usp32	A	T	11: 84,885,234 (GRCm39)	L1271H	probably damaging	Het
Vwa5b2	C	T	16: 20,413,361 (GRCm39)	P192L	probably benign	Het
Zfp995	A	G	17: 22,100,984 (GRCm39)	Y38H	probably 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
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
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'- TCAGAGATGAGGACAGTCCCAG -3'
(R):5'- TCTGGCTGCCTATGTAATATCCTG -3'

Sequencing Primer
(F):5'- CCAGGCAGCCAAGGAGTTATC -3'
(R):5'- GTAATATCCTGGTCACGTGGCAAC -3'

Posted On

2019-11-26