Mutagenetix > Incidental Mutation

Incidental Mutation 'R6131:Ap1m2'

487134

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

044278-MU

Accession Numbers

Essential gene?

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

Stock #

R6131 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21206753-21223617 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21207797 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 396 (Y396C)

Ref Sequence

ENSEMBL: ENSMUSP00000111093 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000003397
AA Change: Y394C

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

SMART Domains

Protein: ENSMUSP00000003397
Gene: ENSMUSG00000003309
AA Change: Y394C

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 damaging
Transcript: ENSMUST00000115433
AA Change: Y396C

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

SMART Domains

Protein: ENSMUSP00000111093
Gene: ENSMUSG00000003309
AA Change: Y396C

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

noncoding transcript
Transcript: ENSMUST00000213483

Predicted Effect

probably benign
Transcript: ENSMUST00000213762

Meta Mutation Damage Score

0.9140

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

96% (50/52)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	A	T	15: 84,844,793 (GRCm39)	W75R	probably damaging	Het
Aadacl2fm3	A	G	3: 59,776,324 (GRCm39)	K165R	possibly damaging	Het
Abca15	T	C	7: 119,939,428 (GRCm39)	V274A	probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Apob	T	C	12: 8,065,874 (GRCm39)	S405P	probably benign	Het
Arhgap26	G	T	18: 39,419,638 (GRCm39)	G533*	probably null	Het
Atxn2l	T	C	7: 126,102,337 (GRCm39)		probably benign	Het
Ccdc88c	A	T	12: 100,907,387 (GRCm39)	L995H	probably damaging	Het
Ccn3	A	G	15: 54,612,756 (GRCm39)	D255G	probably benign	Het
Cep192	A	G	18: 67,971,068 (GRCm39)	H1023R	possibly damaging	Het
Cog5	T	A	12: 31,936,220 (GRCm39)	M589K	possibly damaging	Het
Col25a1	C	A	3: 130,329,114 (GRCm39)	P337Q	probably damaging	Het
Cyfip1	T	G	7: 55,523,228 (GRCm39)	V51G	possibly damaging	Het
Dnah7b	A	T	1: 46,292,626 (GRCm39)	I3004F	probably damaging	Het
Dsg3	A	T	18: 20,671,569 (GRCm39)	D758V	probably damaging	Het
Dsg3	A	G	18: 20,653,534 (GRCm39)		probably null	Het
Eml5	A	T	12: 98,827,510 (GRCm39)	H573Q	probably damaging	Het
Erp27	T	C	6: 136,885,201 (GRCm39)	D199G	probably damaging	Het
Flnb	A	G	14: 7,894,635 (GRCm38)	Y811C	possibly damaging	Het
G6pd2	A	T	5: 61,966,593 (GRCm39)	S123C	probably benign	Het
Gm1818	T	A	12: 48,602,319 (GRCm39)		noncoding transcript	Het
Gm29340	C	T	2: 116,798,519 (GRCm39)		noncoding transcript	Het
H2bc7	C	A	13: 23,758,310 (GRCm39)		probably benign	Het
Hcn2	G	T	10: 79,569,742 (GRCm39)	G581W	probably damaging	Het
Kidins220	T	C	12: 25,042,313 (GRCm39)		probably null	Het
Lonp1	T	C	17: 56,921,457 (GRCm39)	E926G	probably benign	Het
Lrp1	T	C	10: 127,396,026 (GRCm39)	I2415V	probably benign	Het
Mmel1	C	T	4: 154,979,475 (GRCm39)	H728Y	probably damaging	Het
Mmp10	A	G	9: 7,503,633 (GRCm39)		probably null	Het
Myo16	T	A	8: 10,619,877 (GRCm39)	I1476N	probably benign	Het
Nectin3	G	T	16: 46,215,515 (GRCm39)	H76N	probably damaging	Het
Nphs2	G	A	1: 156,153,521 (GRCm39)	R204Q	probably damaging	Het
Or5ac15	T	C	16: 58,940,256 (GRCm39)	Y59C	probably damaging	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Or8b53	T	A	9: 38,667,362 (GRCm39)	I126N	probably damaging	Het
Otx1	A	T	11: 21,949,406 (GRCm39)	L24H	probably damaging	Het
Pate10	T	A	9: 35,652,840 (GRCm39)	C27*	probably null	Het
Psme2b	T	C	11: 48,836,752 (GRCm39)	D65G	probably damaging	Het
Rlf	T	C	4: 121,012,172 (GRCm39)	K214E	probably damaging	Het
Rnasel	A	T	1: 153,630,206 (GRCm39)	T241S	probably damaging	Het
Samd9l	C	G	6: 3,377,252 (GRCm39)	G3A	probably benign	Het
Smg7	A	G	1: 152,720,962 (GRCm39)		probably null	Het
Spag16	A	G	1: 70,764,242 (GRCm39)		probably null	Het
Spata31d1c	T	A	13: 65,183,485 (GRCm39)	D342E	probably benign	Het
Stab2	A	G	10: 86,719,642 (GRCm39)		probably null	Het
Taar7b	A	T	10: 23,876,615 (GRCm39)	Y260F	probably benign	Het
Vcpip1	T	C	1: 9,817,517 (GRCm39)	I289V	probably damaging	Het
Vmn2r130	C	T	17: 23,282,629 (GRCm39)	A103V	probably benign	Het
Vmn2r39	A	G	7: 9,017,963 (GRCm39)	V791A	probably damaging	Het
Vmn2r66	T	A	7: 84,644,224 (GRCm39)	I729F	probably damaging	Het
Zfp536	T	A	7: 37,269,137 (GRCm39)	D93V	probably damaging	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
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
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'- AAGGACAGGTTTGGTGTTAGAC -3'
(R):5'- TCCTTGACATAAGCCACCGC -3'

Sequencing Primer
(F):5'- GATTGTCTCAGAAAGCCC -3'
(R):5'- CTGATTCTAGTCACCTCACCC -3'

Posted On

2017-10-10