Mutagenetix > Incidental Mutation

Incidental Mutation 'R0450:Ap2m1'

39640

Institutional Source

Beutler Lab

Gene Symbol

Ap2m1

Ensembl Gene

ENSMUSG00000022841

Gene Name

adaptor-related protein complex 2, mu 1 subunit

Synonyms

clathrin-associated AP-2

MMRRC Submission

038650-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0450 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20354230-20363659 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 20360990 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 334 (I334N)

Ref Sequence

ENSEMBL: ENSMUSP00000087477 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007216] [ENSMUST00000090023] [ENSMUST00000126788] [ENSMUST00000232001]

AlphaFold

P84091

Predicted Effect

probably benign
Transcript: ENSMUST00000007216
AA Change: I336N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000007216
Gene: ENSMUSG00000022841
AA Change: I336N

Domain	Start	End	E-Value	Type
Pfam:Clat_adaptor_s	1	137	6.7e-8	PFAM
Pfam:Adap_comp_sub	159	435	3.2e-84	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090023
AA Change: I334N

PolyPhen 2 Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000087477
Gene: ENSMUSG00000022841
AA Change: I334N

Domain	Start	End	E-Value	Type
Pfam:Clat_adaptor_s	1	137	4.2e-8	PFAM
Pfam:Adap_comp_sub	157	433	8.7e-87	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119553

Predicted Effect

probably benign
Transcript: ENSMUST00000126788

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131203

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133443

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134981

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150986

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150537

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135420

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148507

Predicted Effect

probably benign
Transcript: ENSMUST00000232001

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231978

Meta Mutation Damage Score

0.2100

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 94.2%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes the mu subunit of the clathrin adaptor protein complex AP-2. It mediates sorting of cargo proteins harboring Y-X-X-Phi motifs into clathrin-coated vesicles. Alternate splicing of this gene results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 2, 8 and 19. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a targeted deletion display embryonic lethality before implantation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	G	A	2: 127,722,423 (GRCm39)		probably null	Het
AI606181	A	C	19: 41,582,170 (GRCm39)	K113N	unknown	Het
Ankrd11	T	C	8: 123,618,914 (GRCm39)	D1646G	possibly damaging	Het
Arih2	T	A	9: 108,482,291 (GRCm39)	H490L	possibly damaging	Het
Ccdc168	T	A	1: 44,100,257 (GRCm39)	K280N	possibly damaging	Het
Cdhr1	T	C	14: 36,802,633 (GRCm39)	Y610C	probably damaging	Het
Cdkal1	C	A	13: 29,875,579 (GRCm39)		probably null	Het
Cep76	A	T	18: 67,767,850 (GRCm39)	N227K	probably benign	Het
Clca4b	A	T	3: 144,619,112 (GRCm39)	Y676N	probably damaging	Het
Cog2	T	C	8: 125,255,797 (GRCm39)		probably null	Het
Col6a4	A	T	9: 105,957,746 (GRCm39)	V26D	probably damaging	Het
Dcaf11	T	C	14: 55,806,537 (GRCm39)	V446A	probably damaging	Het
Dync1h1	C	A	12: 110,606,378 (GRCm39)	Q2483K	probably benign	Het
Enpp3	A	T	10: 24,652,679 (GRCm39)	D759E	probably damaging	Het
Etfbkmt	C	T	6: 149,052,082 (GRCm39)	R96W	probably benign	Het
Fam83a	C	A	15: 57,873,322 (GRCm39)	Q384K	probably benign	Het
Glipr1l2	A	G	10: 111,928,477 (GRCm39)	D124G	probably benign	Het
Gucy2e	T	C	11: 69,126,402 (GRCm39)	D326G	probably benign	Het
Hnrnph3	T	A	10: 62,853,994 (GRCm39)	R41S	probably benign	Het
Hnrnph3	T	A	10: 62,855,279 (GRCm39)	D2V	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Itpr2	T	C	6: 146,319,477 (GRCm39)	T188A	possibly damaging	Het
Krt23	T	A	11: 99,377,608 (GRCm39)	I133L	probably damaging	Het
Krt74	T	C	15: 101,671,751 (GRCm39)		noncoding transcript	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Map1a	A	T	2: 121,136,255 (GRCm39)	H2357L	probably benign	Het
Mbl1	A	G	14: 40,880,706 (GRCm39)	N198S	probably damaging	Het
Mcf2l	A	G	8: 13,047,337 (GRCm39)	D233G	probably damaging	Het
Mdga2	T	C	12: 66,517,700 (GRCm39)	K45E	possibly damaging	Het
Mdn1	A	G	4: 32,738,619 (GRCm39)	N3524S	probably benign	Het
Mospd3	A	G	5: 137,595,294 (GRCm39)	L233P	probably damaging	Het
Msto1	A	G	3: 88,818,848 (GRCm39)	L269P	probably benign	Het
Or4a39	A	T	2: 89,237,135 (GRCm39)	M96K	probably damaging	Het
Or5p5	T	C	7: 107,413,895 (GRCm39)	Y35H	probably damaging	Het
Or5w15	A	G	2: 87,567,825 (GRCm39)	V281A	probably damaging	Het
Or8b12i	T	C	9: 20,082,561 (GRCm39)	Y102C	probably benign	Het
Or8g27	G	A	9: 39,129,024 (GRCm39)	V124I	possibly damaging	Het
Parp2	T	A	14: 51,057,130 (GRCm39)	Y361N	probably damaging	Het
Pcf11	G	A	7: 92,307,039 (GRCm39)	P1043L	probably damaging	Het
Phf24	G	T	4: 42,933,761 (GRCm39)	V48L	possibly damaging	Het
Pkn1	C	A	8: 84,398,953 (GRCm39)	C678F	probably damaging	Het
Plcl2	T	C	17: 50,915,010 (GRCm39)	L673P	probably damaging	Het
Ppp1r3c	A	T	19: 36,711,617 (GRCm39)	F51Y	possibly damaging	Het
Rem2	T	C	14: 54,713,754 (GRCm39)		probably benign	Het
Smpdl3b	A	G	4: 132,472,449 (GRCm39)	V108A	probably damaging	Het
Sncaip	A	G	18: 53,001,781 (GRCm39)	T101A	probably benign	Het
Stk11	T	C	10: 79,961,920 (GRCm39)	V47A	probably damaging	Het
Tmpo	A	C	10: 90,998,958 (GRCm39)	I276M	probably benign	Het
Trim55	G	T	3: 19,725,256 (GRCm39)	V258L	possibly damaging	Het
Ttn	A	G	2: 76,560,756 (GRCm39)	V29215A	probably damaging	Het
Ubr4	T	G	4: 139,157,534 (GRCm39)	S2364A	probably benign	Het
Unc79	T	A	12: 103,045,329 (GRCm39)		probably null	Het
Upb1	T	C	10: 75,250,917 (GRCm39)		probably null	Het
Usp47	T	C	7: 111,655,787 (GRCm39)	S155P	possibly damaging	Het
Zfp628	A	T	7: 4,922,732 (GRCm39)	Q318L	probably benign	Het
Zfp729b	A	T	13: 67,739,253 (GRCm39)	V1004E	probably benign	Het

Other mutations in Ap2m1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01718:Ap2m1	APN	16	20,360,944 (GRCm39)	unclassified	probably benign
R0110:Ap2m1	UTSW	16	20,360,990 (GRCm39)	missense	possibly damaging	0.67
R0390:Ap2m1	UTSW	16	20,359,849 (GRCm39)	missense	probably damaging	0.98
R0510:Ap2m1	UTSW	16	20,360,990 (GRCm39)	missense	possibly damaging	0.67
R1386:Ap2m1	UTSW	16	20,359,979 (GRCm39)	missense	probably damaging	1.00
R1505:Ap2m1	UTSW	16	20,361,447 (GRCm39)	missense	probably benign
R1728:Ap2m1	UTSW	16	20,358,088 (GRCm39)	missense	probably damaging	0.99
R1729:Ap2m1	UTSW	16	20,358,088 (GRCm39)	missense	probably damaging	0.99
R4433:Ap2m1	UTSW	16	20,362,134 (GRCm39)	missense	possibly damaging	0.55
R5773:Ap2m1	UTSW	16	20,362,140 (GRCm39)	missense	probably damaging	0.96
R6953:Ap2m1	UTSW	16	20,361,468 (GRCm39)	missense	probably damaging	0.96
R7226:Ap2m1	UTSW	16	20,358,201 (GRCm39)	missense	probably damaging	0.99
R7266:Ap2m1	UTSW	16	20,362,095 (GRCm39)	missense	probably damaging	1.00
R7735:Ap2m1	UTSW	16	20,358,269 (GRCm39)	missense	probably benign	0.01
R9571:Ap2m1	UTSW	16	20,360,037 (GRCm39)	missense	probably damaging	1.00
R9777:Ap2m1	UTSW	16	20,358,113 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTCATCAAGTCCAACTTCAAGCCC -3'
(R):5'- CACCCAGACTGTACGCTTTAGACAC -3'

Sequencing Primer
(F):5'- AACTTCAAGCCCTCACTTCTGG -3'
(R):5'- cacacacacacacacacac -3'

Posted On

2013-05-23