Mutagenetix > Incidental Mutation

Incidental Mutation 'R0172:Ap1m2'

24279

Institutional Source

Beutler Lab

Gene Symbol

Ap1m2

Ensembl Gene

ENSMUSG00000003309

Gene Name

adaptor protein complex AP-1, mu 2 subunit

Synonyms

D9Ertd818e, mu1B, [m]1B

MMRRC Submission

038444-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.236) question?

Stock #

R0172 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21206753-21223617 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 21209628 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000111093 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003397] [ENSMUST00000115433] [ENSMUST00000213250] [ENSMUST00000213762]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000003397

SMART Domains

Protein: ENSMUSP00000003397
Gene: ENSMUSG00000003309

Domain	Start	End	E-Value	Type
Pfam:Clat_adaptor_s	2	141	7.3e-9	PFAM
Pfam:Adap_comp_sub	157	422	7.3e-93	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000115433

SMART Domains

Protein: ENSMUSP00000111093
Gene: ENSMUSG00000003309

Domain	Start	End	E-Value	Type
Pfam:Clat_adaptor_s	2	141	7.4e-9	PFAM
Pfam:Adap_comp_sub	157	424	4.7e-95	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213250

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213483

Predicted Effect

probably benign
Transcript: ENSMUST00000213762

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.4%

Validation Efficiency

82% (40/49)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 1 (AP-1), which belongs to the adaptor complexes medium subunits family. This protein is capable of interacting with tyrosine-based sorting signals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Homozygous null mice show small intestine crypt hyperplasia and villous dysplasia due to altered polarity and hyperproliferation of epithelial cells, exhibit spontaneous chronic colitis due to epithelial immune dysfunction, and develop a digestive disorder that causes malnutrition, growth retardation and early death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	T	A	5: 138,645,578 (GRCm39)	C488S	probably damaging	Het
Abca12	T	G	1: 71,318,561 (GRCm39)	D1814A	probably damaging	Het
Acp7	T	C	7: 28,314,549 (GRCm39)	N272S	possibly damaging	Het
Ank3	T	C	10: 69,811,888 (GRCm39)	V1145A	probably damaging	Het
Atp12a	T	C	14: 56,610,301 (GRCm39)	V224A	probably damaging	Het
Cdh23	T	C	10: 60,155,411 (GRCm39)	E2253G	probably damaging	Het
Cep350	T	C	1: 155,829,193 (GRCm39)	N237S	probably benign	Het
Crispld2	T	C	8: 120,752,810 (GRCm39)	V286A	possibly damaging	Het
Cyp2c65	G	T	19: 39,076,100 (GRCm39)	V351L	possibly damaging	Het
D130043K22Rik	T	C	13: 25,056,389 (GRCm39)	F574L	probably benign	Het
Dag1	G	A	9: 108,086,031 (GRCm39)	T370M	possibly damaging	Het
Dmwd	C	T	7: 18,814,267 (GRCm39)	R306C	probably damaging	Het
Dnah11	T	C	12: 117,951,188 (GRCm39)	Y3040C	probably damaging	Het
Dst	C	A	1: 34,309,935 (GRCm39)	H1536Q	probably damaging	Het
Eif3j1	A	G	2: 121,882,246 (GRCm39)	I202V	probably benign	Het
Epg5	T	A	18: 78,070,574 (GRCm39)	V2283D	probably benign	Het
Evi5	T	C	5: 107,938,328 (GRCm39)	N625S	probably benign	Het
Exosc10	T	C	4: 148,649,814 (GRCm39)	S415P	probably benign	Het
F830016B08Rik	G	T	18: 60,433,036 (GRCm39)	D40Y	possibly damaging	Het
Fam118a	A	G	15: 84,929,951 (GRCm39)	I60V	probably benign	Het
Fam186a	A	T	15: 99,852,768 (GRCm39)	M150K	unknown	Het
Fam193a	C	T	5: 34,622,957 (GRCm39)	R1182W	probably damaging	Het
Fastkd2	T	A	1: 63,771,187 (GRCm39)	I181K	possibly damaging	Het
Hip1r	T	A	5: 124,135,003 (GRCm39)	Y380N	possibly damaging	Het
Hivep2	C	A	10: 14,015,218 (GRCm39)	P1795Q	probably damaging	Het
Hnrnpab	T	C	11: 51,493,494 (GRCm39)	E238G	probably damaging	Het
Kcnma1	C	T	14: 23,853,234 (GRCm39)	A172T	probably damaging	Het
Lipg	G	T	18: 75,081,245 (GRCm39)	H279N	possibly damaging	Het
Lrrc9	A	G	12: 72,510,260 (GRCm39)	D453G	possibly damaging	Het
Map1s	T	A	8: 71,367,612 (GRCm39)	M839K	probably benign	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Myo1h	T	A	5: 114,467,225 (GRCm39)		probably null	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Nrn1	T	C	13: 36,914,544 (GRCm39)	R19G	probably benign	Het
Nwd2	T	C	5: 63,963,712 (GRCm39)	Y1099H	probably benign	Het
Nxpe2	G	A	9: 48,231,209 (GRCm39)	R387C	possibly damaging	Het
Or2a25	T	C	6: 42,888,913 (GRCm39)	V152A	probably benign	Het
Pappa2	C	T	1: 158,682,419 (GRCm39)		probably null	Het
Pcdhb13	A	T	18: 37,575,990 (GRCm39)	I123L	probably benign	Het
Plcg2	A	G	8: 118,306,521 (GRCm39)	T292A	probably benign	Het
Pnpla8	T	A	12: 44,358,111 (GRCm39)	V469D	probably damaging	Het
Pop4	T	C	7: 37,962,679 (GRCm39)	Y195C	probably damaging	Het
Rbsn	A	T	6: 92,188,588 (GRCm39)	D42E	probably damaging	Het
Sclt1	A	T	3: 41,672,222 (GRCm39)	I123N	possibly damaging	Het
Slc22a27	C	A	19: 7,843,201 (GRCm39)	G393*	probably null	Het
Smu1	C	T	4: 40,738,439 (GRCm39)	V432I	probably benign	Het
Sohlh1	A	G	2: 25,736,215 (GRCm39)		probably null	Het
Spta1	T	A	1: 174,058,352 (GRCm39)	I1940K	probably damaging	Het
Sufu	G	T	19: 46,385,563 (GRCm39)	V8F	possibly damaging	Het
Tmem144	G	A	3: 79,746,580 (GRCm39)		probably benign	Het
Tmem184b	A	G	15: 79,262,740 (GRCm39)	V39A	possibly damaging	Het
Tmem236	A	G	2: 14,223,694 (GRCm39)	D161G	probably benign	Het
Ufl1	T	C	4: 25,280,685 (GRCm39)	K54R	probably benign	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het

Other mutations in Ap1m2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01811:Ap1m2	APN	9	21,210,600 (GRCm39)	missense	probably benign	0.01
IGL02320:Ap1m2	APN	9	21,210,620 (GRCm39)	nonsense	probably null
IGL02533:Ap1m2	APN	9	21,207,797 (GRCm39)	missense	probably damaging	1.00
IGL02806:Ap1m2	APN	9	21,216,979 (GRCm39)	missense	probably damaging	1.00
PIT1430001:Ap1m2	UTSW	9	21,209,548 (GRCm39)	missense	probably damaging	0.98
R0498:Ap1m2	UTSW	9	21,207,129 (GRCm39)	makesense	probably null
R1272:Ap1m2	UTSW	9	21,217,006 (GRCm39)	missense	possibly damaging	0.85
R1424:Ap1m2	UTSW	9	21,209,500 (GRCm39)	missense	possibly damaging	0.95
R1747:Ap1m2	UTSW	9	21,216,982 (GRCm39)	missense	probably damaging	1.00
R4477:Ap1m2	UTSW	9	21,209,509 (GRCm39)	missense	probably benign	0.31
R4478:Ap1m2	UTSW	9	21,209,509 (GRCm39)	missense	probably benign	0.31
R4573:Ap1m2	UTSW	9	21,217,054 (GRCm39)	missense	probably damaging	1.00
R4702:Ap1m2	UTSW	9	21,209,591 (GRCm39)	missense	probably benign	0.24
R4860:Ap1m2	UTSW	9	21,220,970 (GRCm39)	missense	probably benign
R4860:Ap1m2	UTSW	9	21,220,970 (GRCm39)	missense	probably benign
R5285:Ap1m2	UTSW	9	21,216,933 (GRCm39)	nonsense	probably null
R6131:Ap1m2	UTSW	9	21,207,797 (GRCm39)	missense	probably damaging	1.00
R6191:Ap1m2	UTSW	9	21,210,601 (GRCm39)	missense	probably benign	0.02
R7262:Ap1m2	UTSW	9	21,213,762 (GRCm39)	missense	possibly damaging	0.49
R9169:Ap1m2	UTSW	9	21,223,523 (GRCm39)	missense	probably benign	0.04
R9398:Ap1m2	UTSW	9	21,216,935 (GRCm39)	missense	probably damaging	1.00
R9561:Ap1m2	UTSW	9	21,209,524 (GRCm39)	missense	probably damaging	1.00
R9664:Ap1m2	UTSW	9	21,216,983 (GRCm39)	missense	probably benign	0.00
Z1176:Ap1m2	UTSW	9	21,209,552 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GTCCATTGCACAGACTTCAAAGTCAAG -3'
(R):5'- CCAGATTGAGGAACAAGAGTTAGCACC -3'

Sequencing Primer
(F):5'- gggagggagggagggag -3'
(R):5'- AAGAGTTAGCACCCTTCTCTTG -3'

Posted On

2013-04-16