Mutagenetix > Incidental Mutation

Incidental Mutation 'R7818:Ap1g2'

601693

Institutional Source

Beutler Lab

Gene Symbol

Ap1g2

Ensembl Gene

ENSMUSG00000040701

Gene Name

adaptor protein complex AP-1, gamma 2 subunit

Synonyms

gamma 2-adaptin, Adtg2

MMRRC Submission

045872-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.371) question?

Stock #

R7818 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55336292-55344050 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55337181 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 718 (V718D)

Ref Sequence

ENSEMBL: ENSMUSP00000128427 (fasta)

Gene Model

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

AlphaFold

O88512

Predicted Effect

probably benign
Transcript: ENSMUST00000036041
AA Change: V718D

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000043996
Gene: ENSMUSG00000040701
AA Change: V718D

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: 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

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

probably benign
Transcript: ENSMUST00000170285
AA Change: V718D

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000128427
Gene: ENSMUSG00000040701
AA Change: V718D

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

99% (88/89)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	T	A	9: 46,215,519 (GRCm39)	R342S	probably benign	Het
Aatk	C	T	11: 119,912,281 (GRCm39)	V55I	probably benign	Het
Abhd10	T	A	16: 45,557,916 (GRCm39)	I128L	probably benign	Het
Abraxas1	T	A	5: 100,954,176 (GRCm39)	M325L	probably benign	Het
Adgrb2	C	A	4: 129,908,353 (GRCm39)	L1087I	probably damaging	Het
Adgrb2	C	T	4: 129,908,762 (GRCm39)	P1124S	possibly damaging	Het
Akap9	T	A	5: 4,063,875 (GRCm39)	Y1741*	probably null	Het
Asph	A	T	4: 9,475,015 (GRCm39)	M637K	probably damaging	Het
Atp2c1	T	C	9: 105,291,956 (GRCm39)	I869V	probably benign	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Cacna1e	T	C	1: 154,274,152 (GRCm39)	D2251G	probably damaging	Het
Camk2b	A	G	11: 5,927,812 (GRCm39)	S413P	probably benign	Het
Casz1	G	A	4: 149,030,533 (GRCm39)	C1184Y	probably damaging	Het
Cbr4	G	A	8: 61,940,976 (GRCm39)	V32I	probably benign	Het
Ccdc166	A	G	15: 75,852,864 (GRCm39)	S368P	possibly damaging	Het
Ccdc170	A	G	10: 4,499,603 (GRCm39)	N508S	probably benign	Het
Ccdc187	A	G	2: 26,166,186 (GRCm39)	S748P	possibly damaging	Het
Cdca8	A	T	4: 124,820,456 (GRCm39)		probably null	Het
Cep120	T	C	18: 53,856,175 (GRCm39)	D414G	probably benign	Het
Dcp1a	G	T	14: 30,201,678 (GRCm39)	A34S	probably damaging	Het
Ddit3	C	T	10: 127,131,662 (GRCm39)	T70I	probably benign	Het
Dlg2	C	G	7: 91,589,225 (GRCm39)	A313G	probably damaging	Het
Dnah9	A	T	11: 65,916,037 (GRCm39)	V2305D	possibly damaging	Het
Dock1	T	A	7: 134,365,594 (GRCm39)	D427E	probably damaging	Het
Dolpp1	T	C	2: 30,286,503 (GRCm39)	L141P	probably benign	Het
Dsc2	A	T	18: 20,183,189 (GRCm39)	D76E	probably damaging	Het
Dusp7	C	A	9: 106,246,329 (GRCm39)	N111K	probably benign	Het
Fam193a	A	G	5: 34,622,997 (GRCm39)	E1195G	possibly damaging	Het
Fig4	A	G	10: 41,139,162 (GRCm39)	L347P	probably damaging	Het
Frem1	T	C	4: 82,932,245 (GRCm39)	E152G	probably damaging	Het
Galnt2	G	T	8: 125,056,527 (GRCm39)	D234Y	probably damaging	Het
H1f3	C	T	13: 23,739,165 (GRCm39)		probably benign	Het
Igkv4-59	T	C	6: 69,415,475 (GRCm39)	T27A	possibly damaging	Het
Ihh	T	C	1: 74,985,804 (GRCm39)	D227G	possibly damaging	Het
Il1rap	T	A	16: 26,517,597 (GRCm39)	C266S	probably damaging	Het
Iqcf4	A	T	9: 106,447,738 (GRCm39)	L57*	probably null	Het
Kif2b	A	G	11: 91,466,952 (GRCm39)	S444P	probably damaging	Het
Lmf1	T	G	17: 25,881,565 (GRCm39)	I538S	probably benign	Het
Mical2	A	G	7: 111,944,514 (GRCm39)	Y948C	probably damaging	Het
Mr1	G	A	1: 155,006,382 (GRCm39)	Q322*	probably null	Het
Mroh2a	T	C	1: 88,162,334 (GRCm39)		probably null	Het
Mup6	A	G	4: 60,004,884 (GRCm39)	T100A	probably benign	Het
Mybpc1	T	A	10: 88,394,529 (GRCm39)	D266V	probably damaging	Het
Myocos	T	C	1: 162,475,063 (GRCm39)	N48S	unknown	Het
Naf1	G	A	8: 67,342,028 (GRCm39)	G551E	probably damaging	Het
Nrarp	A	G	2: 25,071,250 (GRCm39)	N43S	possibly damaging	Het
Or4a80	A	G	2: 89,582,288 (GRCm39)	S295P	possibly damaging	Het
Or5p52	G	A	7: 107,502,230 (GRCm39)	C102Y	probably benign	Het
Or7a40	A	C	16: 16,491,437 (GRCm39)	M136R	probably damaging	Het
Or7g19	T	A	9: 18,856,305 (GRCm39)	Y120*	probably null	Het
Or8b57	T	A	9: 40,004,008 (GRCm39)	M85L	probably damaging	Het
Padi3	T	A	4: 140,525,453 (GRCm39)	T177S	possibly damaging	Het
Pde3b	A	G	7: 114,090,675 (GRCm39)	M305V	probably damaging	Het
Pde6a	T	A	18: 61,414,580 (GRCm39)		probably null	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Prph	A	G	15: 98,955,753 (GRCm39)	T446A	probably damaging	Het
Pwwp2b	T	C	7: 138,835,240 (GRCm39)	V227A	probably benign	Het
Rev3l	T	C	10: 39,699,898 (GRCm39)	I1465T	possibly damaging	Het
Rin1	A	G	19: 5,102,219 (GRCm39)	S243G	probably benign	Het
Ripor3	A	T	2: 167,831,346 (GRCm39)	I485N	probably benign	Het
Rnpc3	G	T	3: 113,423,600 (GRCm39)	P35Q	probably damaging	Het
Sbpl	G	T	17: 24,172,236 (GRCm39)	Q228K	unknown	Het
Scn11a	A	C	9: 119,613,177 (GRCm39)	N804K	probably damaging	Het
Selenoo	A	G	15: 88,981,019 (GRCm39)	T453A	probably damaging	Het
Sez6	C	T	11: 77,867,728 (GRCm39)	P882S	probably damaging	Het
Skint5	C	T	4: 113,799,923 (GRCm39)	R82H	possibly damaging	Het
Slc18a2	A	C	19: 59,251,593 (GRCm39)	T115P	probably benign	Het
Slc1a2	A	G	2: 102,574,301 (GRCm39)	D237G	probably benign	Het
Spidr	T	C	16: 15,932,729 (GRCm39)	S184G	probably damaging	Het
Stag3	A	T	5: 138,299,705 (GRCm39)	Q872L	probably benign	Het
Suds3	T	C	5: 117,253,814 (GRCm39)		probably benign	Het
Sv2c	T	A	13: 96,123,328 (GRCm39)	K382*	probably null	Het
Taf2	T	C	15: 54,929,326 (GRCm39)	I77V	probably benign	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tdrd3	G	T	14: 87,709,636 (GRCm39)	C100F	probably damaging	Het
Tek	T	A	4: 94,715,953 (GRCm39)	H458Q	possibly damaging	Het
Tes	C	A	6: 17,099,743 (GRCm39)	P246Q	probably damaging	Het
Tgif1	A	T	17: 71,156,603 (GRCm39)		probably null	Het
Tlr11	A	T	14: 50,599,285 (GRCm39)	N424Y	probably damaging	Het
Tmc8	A	T	11: 117,682,953 (GRCm39)	N626I	probably damaging	Het
Tmem132c	T	A	5: 127,641,152 (GRCm39)	*1108K	probably null	Het
Tnks	A	T	8: 35,340,182 (GRCm39)	Y479N	probably benign	Het
Trip12	C	T	1: 84,738,527 (GRCm39)	G776D	probably damaging	Het
Tssk1	A	G	16: 17,712,311 (GRCm39)	E32G	probably benign	Het
Ube2o	T	C	11: 116,434,736 (GRCm39)	D575G	probably damaging	Het
Uckl1	A	T	2: 181,216,460 (GRCm39)	M16K	probably damaging	Het
Zfp948	A	T	17: 21,807,985 (GRCm39)	E392D	probably benign	Het
Zmynd8	G	A	2: 165,684,751 (GRCm39)	T167I	probably damaging	Het

Other mutations in Ap1g2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01095:Ap1g2	APN	14	55,342,571 (GRCm39)	missense	probably benign	0.01
IGL02421:Ap1g2	APN	14	55,339,859 (GRCm39)	missense	probably damaging	1.00
IGL02633:Ap1g2	APN	14	55,338,104 (GRCm39)	splice site	probably null
IGL02967:Ap1g2	APN	14	55,342,479 (GRCm39)	splice site	probably benign
IGL03030:Ap1g2	APN	14	55,343,504 (GRCm39)	missense	probably damaging	1.00
IGL03087:Ap1g2	APN	14	55,340,493 (GRCm39)	missense	probably damaging	0.99
IGL03261:Ap1g2	APN	14	55,337,987 (GRCm39)	missense	probably benign	0.00
IGL03308:Ap1g2	APN	14	55,342,333 (GRCm39)	missense	probably benign	0.44
R0284:Ap1g2	UTSW	14	55,339,149 (GRCm39)	splice site	probably benign
R0614:Ap1g2	UTSW	14	55,337,230 (GRCm39)	missense	probably benign	0.00
R0762:Ap1g2	UTSW	14	55,337,868 (GRCm39)	splice site	probably benign
R1561:Ap1g2	UTSW	14	55,342,344 (GRCm39)	missense	probably damaging	1.00
R1889:Ap1g2	UTSW	14	55,338,886 (GRCm39)	missense	probably damaging	1.00
R1938:Ap1g2	UTSW	14	55,337,229 (GRCm39)	missense	possibly damaging	0.80
R1997:Ap1g2	UTSW	14	55,339,835 (GRCm39)	missense	probably benign	0.00
R2169:Ap1g2	UTSW	14	55,336,797 (GRCm39)	critical splice acceptor site	probably null
R3157:Ap1g2	UTSW	14	55,336,731 (GRCm39)	missense	probably damaging	0.96
R3820:Ap1g2	UTSW	14	55,338,030 (GRCm39)	splice site	probably benign
R3850:Ap1g2	UTSW	14	55,342,363 (GRCm39)	missense	probably benign	0.03
R4750:Ap1g2	UTSW	14	55,341,822 (GRCm39)	missense	probably damaging	1.00
R4909:Ap1g2	UTSW	14	55,342,483 (GRCm39)	critical splice donor site	probably null
R5305:Ap1g2	UTSW	14	55,336,533 (GRCm39)	missense	probably benign
R5880:Ap1g2	UTSW	14	55,340,157 (GRCm39)	missense	probably damaging	1.00
R6243:Ap1g2	UTSW	14	55,336,530 (GRCm39)	missense	probably benign
R6964:Ap1g2	UTSW	14	55,336,722 (GRCm39)	missense	possibly damaging	0.85
R7039:Ap1g2	UTSW	14	55,340,111 (GRCm39)	nonsense	probably null
R7180:Ap1g2	UTSW	14	55,341,908 (GRCm39)	missense	probably damaging	1.00
R7563:Ap1g2	UTSW	14	55,337,206 (GRCm39)	missense	probably damaging	1.00
R7854:Ap1g2	UTSW	14	55,343,390 (GRCm39)	missense	probably damaging	1.00
R9060:Ap1g2	UTSW	14	55,337,887 (GRCm39)	missense	probably benign	0.00
R9171:Ap1g2	UTSW	14	55,336,581 (GRCm39)	missense	probably benign	0.05
R9276:Ap1g2	UTSW	14	55,339,818 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GAAATTCCCTGGCTACCTCTG -3'
(R):5'- ATCTTAAGCCCATGCACTGAG -3'

Sequencing Primer
(F):5'- AATTCCCTGGCTACCTCTGAATGC -3'
(R):5'- CATGCACTGAGCTGCCTC -3'

Posted On

2019-12-03