Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03087:Ap1g2'

418158

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ap1g2

Ensembl Gene

ENSMUSG00000040701

Gene Name

adaptor protein complex AP-1, gamma 2 subunit

Synonyms

gamma 2-adaptin, Adtg2

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.401) question?

Stock #

IGL03087

Quality Score

Status

Chromosome

Chromosomal Location

55098575-55106593 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 55103036 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 331 (T331I)

Ref Sequence

ENSEMBL: ENSMUSP00000128427 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022819] [ENSMUST00000036041] [ENSMUST00000050575] [ENSMUST00000124493] [ENSMUST00000127870] [ENSMUST00000131323] [ENSMUST00000151314] [ENSMUST00000170285] [ENSMUST00000185121]

Predicted Effect

probably benign
Transcript: ENSMUST00000022819

SMART Domains

Protein: ENSMUSP00000022819
Gene: ENSMUSG00000022208

Domain	Start	End	E-Value	Type
MORN	13	34	1.63e0	SMART
MORN	59	80	1.62e-1	SMART
MORN	104	125	4.76e-2	SMART
MORN	127	148	5.26e-4	SMART
low complexity region	170	180	N/A	INTRINSIC
low complexity region	216	246	N/A	INTRINSIC
MORN	280	301	1.37e-2	SMART
MORN	303	324	3.29e-5	SMART
low complexity region	367	406	N/A	INTRINSIC
low complexity region	453	467	N/A	INTRINSIC
low complexity region	528	553	N/A	INTRINSIC
low complexity region	613	627	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000036041
AA Change: T331I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000043996
Gene: ENSMUSG00000040701
AA Change: T331I

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	24	575	2.7e-149	PFAM
low complexity region	624	631	N/A	INTRINSIC
Alpha_adaptinC2	668	786	5.73e-39	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000050575

SMART Domains

Protein: ENSMUSP00000056026
Gene: ENSMUSG00000045691

Domain	Start	End	E-Value	Type
CYTH	5	200	1.29e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124493

SMART Domains

Protein: ENSMUSP00000121893
Gene: ENSMUSG00000022208

Domain	Start	End	E-Value	Type
MORN	13	34	1.63e0	SMART
MORN	59	80	1.62e-1	SMART
MORN	104	125	4.76e-2	SMART
MORN	127	148	5.26e-4	SMART
low complexity region	170	180	N/A	INTRINSIC
low complexity region	216	246	N/A	INTRINSIC
MORN	280	301	1.37e-2	SMART
MORN	303	324	3.29e-5	SMART
low complexity region	367	406	N/A	INTRINSIC
low complexity region	453	467	N/A	INTRINSIC
low complexity region	528	553	N/A	INTRINSIC
low complexity region	613	627	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127870

SMART Domains

Protein: ENSMUSP00000116698
Gene: ENSMUSG00000040701

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	24	197	5.7e-57	PFAM
low complexity region	222	235	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131323

SMART Domains

Protein: ENSMUSP00000115441
Gene: ENSMUSG00000040701

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	24	197	5.7e-57	PFAM
low complexity region	222	235	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133004

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137481

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137548

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139536

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144197

Predicted Effect

probably benign
Transcript: ENSMUST00000151314

SMART Domains

Protein: ENSMUSP00000122796
Gene: ENSMUSG00000040701

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	24	197	5.7e-57	PFAM
low complexity region	222	235	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153326

Predicted Effect

probably damaging
Transcript: ENSMUST00000170285
AA Change: T331I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128427
Gene: ENSMUSG00000040701
AA Change: T331I

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	24	575	1.5e-149	PFAM
low complexity region	624	631	N/A	INTRINSIC
Alpha_adaptinC2	668	786	5.73e-39	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153702

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185121

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes the gamma-2 subunit of the adaptor protein complex 1 (AP-1). AP-1 complex is a heterotetramer comprised of two heavy and one each of medium and small subunits. The encoded protein is a heavy subunit of AP-1 complex that regulates polarized sorting of cargo at the trans-Golgi network and endosomes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2015]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500035N22Rik	C	T	5: 24,997,632		probably benign	Het
Acbd5	A	G	2: 23,089,710	T261A	probably benign	Het
Ap4m1	A	G	5: 138,174,804	T150A	probably benign	Het
Arid4a	G	T	12: 71,075,245	R478L	possibly damaging	Het
Bard1	T	C	1: 71,067,130	D446G	probably damaging	Het
Baz2a	T	C	10: 128,122,313	L1087P	probably damaging	Het
Bnc1	A	G	7: 81,974,642	L279P	possibly damaging	Het
Bphl	A	T	13: 34,073,711	H275L	probably damaging	Het
Ces1c	T	C	8: 93,118,414	I120V	probably benign	Het
Csmd3	T	A	15: 47,977,033	Y946F	probably damaging	Het
Dnah8	G	A	17: 30,784,144	V3606I	probably benign	Het
Eef2	A	G	10: 81,181,247	N696S	probably benign	Het
Eno4	A	G	19: 58,962,816	H420R	possibly damaging	Het
Enpp1	T	A	10: 24,655,881		probably benign	Het
Fbxo25	T	C	8: 13,924,019		probably null	Het
Glt8d1	T	A	14: 31,010,096	F155I	probably damaging	Het
Golim4	A	T	3: 75,878,673	H598Q	possibly damaging	Het
Hnrnpdl	T	A	5: 100,037,601	E149D	probably damaging	Het
Ifngr2	G	T	16: 91,563,004	*333L	probably null	Het
Ift88	T	C	14: 57,477,957	S486P	probably benign	Het
Igsf9	T	C	1: 172,490,743	I150T	probably benign	Het
Jag2	G	A	12: 112,913,948	L670F	possibly damaging	Het
Kcnc2	T	A	10: 112,455,747	I280N	probably benign	Het
Kif18a	A	G	2: 109,318,117		probably benign	Het
Lct	A	G	1: 128,300,375	L1127P	possibly damaging	Het
Lonrf1	A	T	8: 36,225,551		probably null	Het
Lyst	T	A	13: 13,635,056	I437N	probably damaging	Het
Map3k1	A	G	13: 111,749,025	S1453P	probably benign	Het
Mcmdc2	A	G	1: 9,930,945	M482V	possibly damaging	Het
Mical1	T	C	10: 41,482,690	S535P	probably damaging	Het
Myh3	T	C	11: 67,090,972	F765L	probably damaging	Het
Nat8f6	A	T	6: 85,808,517	Y217N	probably damaging	Het
Ndufaf1	A	G	2: 119,655,799		probably benign	Het
Neurod6	A	T	6: 55,678,775	C292*	probably null	Het
Olfr1106	A	T	2: 87,049,012	S75T	possibly damaging	Het
Olfr1255	A	G	2: 89,816,671	E109G	probably damaging	Het
Olfr530	T	A	7: 140,373,092	I173F	probably damaging	Het
Olfr809	A	T	10: 129,776,261	M116L	probably damaging	Het
Olfr828	T	C	9: 18,816,084	D70G	probably damaging	Het
Pcdhac2	A	G	18: 37,145,682	N572D	probably damaging	Het
Pfpl	A	G	19: 12,428,877	N164S	probably benign	Het
Pi4kb	A	G	3: 94,984,764	R264G	probably benign	Het
Pla2g2c	T	A	4: 138,731,612	F10I	probably benign	Het
Rag2	G	A	2: 101,630,214	V290I	probably benign	Het
Rhot2	G	A	17: 25,841,141		probably benign	Het
Rps6kc1	T	C	1: 190,871,711	Y238C	probably damaging	Het
Scyl2	G	T	10: 89,652,968	A495D	possibly damaging	Het
Sept4	T	A	11: 87,585,245		probably benign	Het
Serpina5	G	T	12: 104,101,733	A18S	probably benign	Het
Slc25a11	T	C	11: 70,645,207	T234A	probably benign	Het
Slc44a2	C	T	9: 21,346,765	T435I	probably benign	Het
Tekt2	T	A	4: 126,324,867	Q31L	possibly damaging	Het
Tfpi	A	G	2: 84,444,045	V199A	possibly damaging	Het
Trap1	G	T	16: 4,044,701		probably null	Het
Trmt1	A	G	8: 84,695,233	Y213C	probably damaging	Het
Ubr4	C	T	4: 139,450,357	R3184*	probably null	Het
Uroc1	G	T	6: 90,363,103		probably benign	Het
Vmn1r19	A	G	6: 57,404,491	I10V	probably benign	Het
Zfhx2	G	A	14: 55,072,845	A748V	possibly damaging	Het

Other mutations in Ap1g2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01095:Ap1g2	APN	14	55105114	missense	probably benign	0.01
IGL02421:Ap1g2	APN	14	55102402	missense	probably damaging	1.00
IGL02633:Ap1g2	APN	14	55100647	splice site	probably null
IGL02967:Ap1g2	APN	14	55105022	splice site	probably benign
IGL03030:Ap1g2	APN	14	55106047	missense	probably damaging	1.00
IGL03261:Ap1g2	APN	14	55100530	missense	probably benign	0.00
IGL03308:Ap1g2	APN	14	55104876	missense	probably benign	0.44
R0284:Ap1g2	UTSW	14	55101692	splice site	probably benign
R0614:Ap1g2	UTSW	14	55099773	missense	probably benign	0.00
R0762:Ap1g2	UTSW	14	55100411	splice site	probably benign
R1561:Ap1g2	UTSW	14	55104887	missense	probably damaging	1.00
R1889:Ap1g2	UTSW	14	55101429	missense	probably damaging	1.00
R1938:Ap1g2	UTSW	14	55099772	missense	possibly damaging	0.80
R1997:Ap1g2	UTSW	14	55102378	missense	probably benign	0.00
R2169:Ap1g2	UTSW	14	55099340	critical splice acceptor site	probably null
R3157:Ap1g2	UTSW	14	55099274	missense	probably damaging	0.96
R3820:Ap1g2	UTSW	14	55100573	splice site	probably benign
R3850:Ap1g2	UTSW	14	55104906	missense	probably benign	0.03
R4750:Ap1g2	UTSW	14	55104365	missense	probably damaging	1.00
R4909:Ap1g2	UTSW	14	55105026	critical splice donor site	probably null
R5305:Ap1g2	UTSW	14	55099076	missense	probably benign
R5880:Ap1g2	UTSW	14	55102700	missense	probably damaging	1.00
R6243:Ap1g2	UTSW	14	55099073	missense	probably benign
R6964:Ap1g2	UTSW	14	55099265	missense	possibly damaging	0.85
R7039:Ap1g2	UTSW	14	55102654	nonsense	probably null
R7180:Ap1g2	UTSW	14	55104451	missense	probably damaging	1.00
R7563:Ap1g2	UTSW	14	55099749	missense	probably damaging	1.00
R7818:Ap1g2	UTSW	14	55099724	missense	probably benign	0.44
R7854:Ap1g2	UTSW	14	55105933	missense	probably damaging	1.00

Posted On

2016-08-02