Mutagenetix > Incidental Mutation

Incidental Mutation 'R9398:Ap1m2'

710951

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

Accession Numbers

Essential gene?

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

Stock #

R9398 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21206753-21223617 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21216935 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 134 (Y134H)

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 damaging
Transcript: ENSMUST00000003397
AA Change: Y134H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000003397
Gene: ENSMUSG00000003309
AA Change: Y134H

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: Y134H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000111093
Gene: ENSMUSG00000003309
AA Change: Y134H

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

possibly damaging
Transcript: ENSMUST00000213250
AA Change: Y99H

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213762
AA Change: Y134H

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvrl1	A	T	15: 101,034,924 (GRCm39)	K228*	probably null	Het
Adrb2	T	C	18: 62,312,276 (GRCm39)	D183G	probably benign	Het
Arid5a	A	G	1: 36,358,073 (GRCm39)	T217A	probably benign	Het
Cdnf	C	T	2: 3,522,075 (GRCm39)	T89I	possibly damaging	Het
Cntnap3	G	A	13: 65,051,648 (GRCm39)	R3W	probably benign	Het
Col6a6	A	G	9: 105,651,825 (GRCm39)	I1062T	probably benign	Het
Ctss	T	C	3: 95,454,258 (GRCm39)	F270S	possibly damaging	Het
Ddhd1	C	T	14: 45,895,117 (GRCm39)	G118R	possibly damaging	Het
Ddx11	A	G	17: 66,436,912 (GRCm39)	K69E	probably benign	Het
Dgkb	G	A	12: 38,189,657 (GRCm39)	G328D	probably damaging	Het
Dock1	C	T	7: 134,774,228 (GRCm39)	T1852M	probably damaging	Het
Gm19410	T	C	8: 36,272,356 (GRCm39)	Y1346H	probably benign	Het
Gprin1	G	T	13: 54,887,383 (GRCm39)	T297N	probably damaging	Het
Gramd1c	A	G	16: 43,833,381 (GRCm39)	F187S	probably damaging	Het
Gse1	A	G	8: 121,303,074 (GRCm39)	N1072D	unknown	Het
Gtf3c6	G	A	10: 40,133,520 (GRCm39)		probably benign	Het
Hipk3	T	A	2: 104,263,562 (GRCm39)	T897S	probably benign	Het
Igsf21	T	A	4: 139,973,762 (GRCm39)		probably benign	Het
Itgb1	A	G	8: 129,452,605 (GRCm39)	I757V	probably damaging	Het
Lamb2	C	T	9: 108,364,366 (GRCm39)	R1102W	possibly damaging	Het
Lzts2	T	G	19: 45,013,208 (GRCm39)	C374W	unknown	Het
Mapk10	A	T	5: 103,061,152 (GRCm39)	S462T	probably damaging	Het
Mtcl1	A	T	17: 66,755,462 (GRCm39)	D293E	possibly damaging	Het
Nf1	T	G	11: 79,438,018 (GRCm39)	H109Q	probably damaging	Het
Nlrp9b	T	C	7: 19,783,435 (GRCm39)	L926P	probably damaging	Het
Notch2	G	A	3: 98,009,668 (GRCm39)	D532N	probably damaging	Het
Olfm4	A	T	14: 80,249,249 (GRCm39)	Y122F	probably benign	Het
Or52e19b	T	A	7: 103,032,487 (GRCm39)	T241S	probably damaging	Het
Or52r1	A	G	7: 102,537,000 (GRCm39)	M120T	probably damaging	Het
Or56a4	A	T	7: 104,806,006 (GRCm39)	Y294*	probably null	Het
Or5g24-ps1	T	C	2: 85,464,367 (GRCm39)	V198A	probably benign	Het
Or5p76	T	C	7: 108,123,035 (GRCm39)	T41A	probably damaging	Het
Or5t18	A	G	2: 86,637,160 (GRCm39)	L61P	possibly damaging	Het
P2rx2	A	T	5: 110,488,138 (GRCm39)	M472K	probably benign	Het
Pbxip1	A	G	3: 89,354,941 (GRCm39)	K487E	probably benign	Het
Plxnb2	A	G	15: 89,045,122 (GRCm39)	V1108A	probably benign	Het
Polq	A	G	16: 36,881,394 (GRCm39)	N1186S	probably benign	Het
Por	T	A	5: 135,754,597 (GRCm39)	W6R	unknown	Het
Prex2	G	A	1: 11,207,028 (GRCm39)	V529I	probably benign	Het
Rgs6	T	G	12: 82,698,615 (GRCm39)	S5A	probably benign	Het
Rp9	G	T	9: 22,360,082 (GRCm39)	S171*	probably null	Het
Sec11c	T	A	18: 65,942,568 (GRCm39)	I47N	possibly damaging	Het
Sh2b1	GCCACGGGGACCAGCTC	GCCACGGGGACCAGCTCATCCACGGGGACCAGCTC	7: 126,066,756 (GRCm39)		probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Sh2b1	GACCAGCTCAGCCACGGG	GACCAGCTCAGCCACGGGTACCAGCTCAGCCACGGG	7: 126,066,746 (GRCm39)		probably benign	Het
Slco1a8	A	G	6: 141,940,511 (GRCm39)	S137P	possibly damaging	Het
Sorcs1	A	G	19: 50,213,651 (GRCm39)	M692T	possibly damaging	Het
Sult1d1	T	A	5: 87,713,954 (GRCm39)	Q30L	probably benign	Het
Tcea2	A	G	2: 181,322,243 (GRCm39)	D15G	probably damaging	Het
Tep1	T	C	14: 51,066,429 (GRCm39)	S2344G	possibly damaging	Het
Ttc6	T	A	12: 57,784,404 (GRCm39)	Y1824*	probably null	Het
Ubqln5	T	C	7: 103,777,985 (GRCm39)	T280A	probably benign	Het
Ush1c	T	C	7: 45,869,934 (GRCm39)	R342G	probably benign	Het
Vmn1r185	T	A	7: 26,311,056 (GRCm39)	I150F	probably benign	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn1r86	A	G	7: 12,836,261 (GRCm39)	M205T	probably damaging	Het
Vps13d	A	T	4: 144,896,956 (GRCm39)	Y321*	probably null	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
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
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'- CCAGGACATGATGCATAGGAC -3'
(R):5'- TCTGTAGTCCAGGCACACAG -3'

Sequencing Primer
(F):5'- GGACATGATGCATAGGACTCACC -3'
(R):5'- TGAGGGCATCACCAGCTTAC -3'

Posted On

2022-04-18