Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01811:Ap1m2'

154273

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ap1m2

Ensembl Gene

ENSMUSG00000003309

Gene Name

adaptor protein complex AP-1, mu 2 subunit

Synonyms

D9Ertd818e, mu1B, [m]1B

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.181) question?

Stock #

IGL01811

Quality Score

Status

Chromosome

Chromosomal Location

21206753-21223617 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21210600 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 343 (V343A)

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 benign
Transcript: ENSMUST00000003397
AA Change: V341A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000003397
Gene: ENSMUSG00000003309
AA Change: V341A

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 benign
Transcript: ENSMUST00000115433
AA Change: V343A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000111093
Gene: ENSMUSG00000003309
AA Change: V343A

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

Validation Efficiency

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: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aggf1	G	A	13: 95,488,080 (GRCm39)	T689I	probably benign	Het
Ccbe1	A	G	18: 66,199,798 (GRCm39)		probably null	Het
Cd1d1	T	C	3: 86,903,895 (GRCm39)	I204V	possibly damaging	Het
Cpeb3	G	A	19: 37,022,008 (GRCm39)	R613C	probably damaging	Het
Dock9	A	T	14: 121,796,440 (GRCm39)	F1821I	probably damaging	Het
Dst	A	T	1: 34,203,173 (GRCm39)	Q694L	probably damaging	Het
Kansl1l	A	G	1: 66,762,462 (GRCm39)	S802P	probably damaging	Het
Meltf	T	C	16: 31,707,803 (GRCm39)	C397R	probably damaging	Het
Myo1d	A	T	11: 80,583,823 (GRCm39)	V63D	probably damaging	Het
Or4c101	C	T	2: 88,390,409 (GRCm39)	L199F	probably benign	Het
Pycr1	T	A	11: 120,532,092 (GRCm39)	S225C	probably benign	Het
Tbc1d9	T	A	8: 83,960,307 (GRCm39)	C187S	probably damaging	Het
Tnfrsf21	A	C	17: 43,348,504 (GRCm39)	I39L	probably benign	Het
Tnn	T	C	1: 159,934,705 (GRCm39)	D972G	probably damaging	Het

Other mutations in Ap1m2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R0172:Ap1m2	UTSW	9	21,209,628 (GRCm39)	splice site	probably null
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

Posted On

2014-02-04