Mutagenetix > Incidental Mutation

Incidental Mutation 'R6243:Ap1g2'

505404

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

044365-MU

Accession Numbers

Essential gene?

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

Stock #

R6243 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55336292-55344050 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55336530 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 788 (E788G)

Ref Sequence

ENSEMBL: ENSMUSP00000128427 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036041] [ENSMUST00000050575] [ENSMUST00000127870] [ENSMUST00000131323] [ENSMUST00000170285] [ENSMUST00000185121] [ENSMUST00000151314] [ENSMUST00000183822]

AlphaFold

O88512

Predicted Effect

probably benign
Transcript: ENSMUST00000036041
AA Change: E788G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000043996
Gene: ENSMUSG00000040701
AA Change: E788G

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

noncoding transcript
Transcript: ENSMUST00000133004

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137548

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139536

Predicted Effect

probably benign
Transcript: ENSMUST00000170285
AA Change: E788G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000128427
Gene: ENSMUSG00000040701
AA Change: E788G

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: ENSMUST00000183993

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185121

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153702

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: ENSMUST00000183822

SMART Domains

Protein: ENSMUSP00000140371
Gene: ENSMUSG00000045691

Domain	Start	End	E-Value	Type
PDB:2JMU\|A	5	64	3e-23	PDB

Meta Mutation Damage Score

0.0617

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

Validation Efficiency

99% (73/74)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts6	T	C	13: 104,450,809 (GRCm39)	S331P	probably damaging	Het
Akap9	T	G	5: 4,115,000 (GRCm39)		probably null	Het
Ankef1	A	G	2: 136,379,077 (GRCm39)	E9G	probably damaging	Het
Araf	G	T	X: 20,726,339 (GRCm39)	R601L	probably damaging	Homo
Asrgl1	A	T	19: 9,093,868 (GRCm39)	I220K	probably damaging	Het
Atg16l2	A	C	7: 100,941,536 (GRCm39)	*404E	probably null	Het
Atp4a	T	C	7: 30,415,382 (GRCm39)	F334S	possibly damaging	Het
Atp6v0d1	T	C	8: 106,292,495 (GRCm39)	E17G	probably benign	Het
Bcat2	T	C	7: 45,237,691 (GRCm39)	V279A	probably benign	Het
Birc6	T	G	17: 74,916,382 (GRCm39)	M459R	probably damaging	Het
Bsn	T	C	9: 107,984,760 (GRCm39)	Y3098C	unknown	Het
Btaf1	T	A	19: 36,958,520 (GRCm39)	M679K	probably benign	Het
Cirop	T	A	14: 54,933,216 (GRCm39)	R322S	probably damaging	Het
Col6a4	T	C	9: 105,890,589 (GRCm39)	T1902A	possibly damaging	Het
Crhr1	G	A	11: 104,064,740 (GRCm39)	C364Y	probably damaging	Het
Crmp1	T	C	5: 37,446,288 (GRCm39)	L648P	probably damaging	Het
Cyfip1	T	C	7: 55,550,277 (GRCm39)	Y671H	probably damaging	Het
Cyp2b13	C	T	7: 25,761,044 (GRCm39)	P34S	probably damaging	Het
Dnajb6	T	A	5: 29,986,131 (GRCm39)	V233E	probably benign	Het
Dnhd1	A	T	7: 105,301,216 (GRCm39)	H191L	probably damaging	Het
Dsg3	T	A	18: 20,672,781 (GRCm39)	D817E	probably damaging	Het
Dytn	T	C	1: 63,686,680 (GRCm39)	Q330R	possibly damaging	Het
Fads1	G	T	19: 10,163,091 (GRCm39)	E123*	probably null	Het
Fchsd2	T	C	7: 100,921,016 (GRCm39)		probably benign	Het
Fmo9	T	C	1: 166,494,938 (GRCm39)	E270G	probably benign	Het
Folr1	T	A	7: 101,513,172 (GRCm39)	H41L	probably damaging	Het
Gm7298	A	G	6: 121,756,096 (GRCm39)	N985S	possibly damaging	Het
Gp1ba	T	C	11: 70,530,963 (GRCm39)		probably benign	Het
Hspa4	C	T	11: 53,153,766 (GRCm39)	E702K	probably benign	Het
Igf2bp3	A	T	6: 49,084,362 (GRCm39)	N285K	possibly damaging	Het
Lca5l	G	A	16: 95,980,112 (GRCm39)	T6I	possibly damaging	Het
Mapk8ip1	C	A	2: 92,219,589 (GRCm39)	G81C	probably damaging	Het
Mpeg1	A	G	19: 12,439,604 (GRCm39)	H354R	probably benign	Het
Msh6	T	A	17: 88,290,999 (GRCm39)	V195E	possibly damaging	Het
Mtfmt	C	T	9: 65,351,182 (GRCm39)	T243I	probably benign	Het
Myo1h	T	A	5: 114,500,208 (GRCm39)	I195K	probably damaging	Het
Nr1h5	T	C	3: 102,856,380 (GRCm39)	K300E	probably benign	Het
Nuak2	T	C	1: 132,260,105 (GRCm39)	S628P	probably benign	Het
Nup214	G	T	2: 31,892,944 (GRCm39)	A721S	possibly damaging	Het
Or12e13	A	G	2: 87,663,385 (GRCm39)	M1V	probably null	Het
Or5d47	A	G	2: 87,804,931 (GRCm39)	V26A	probably benign	Het
Pclo	T	C	5: 14,726,457 (GRCm39)		probably benign	Het
Phf20	A	G	2: 156,065,320 (GRCm39)	S12G	probably benign	Het
Pik3r5	T	C	11: 68,382,826 (GRCm39)	Y289H	probably damaging	Het
Pld1	T	C	3: 28,149,954 (GRCm39)	I717T	probably damaging	Het
Plxdc1	A	G	11: 97,846,299 (GRCm39)	Y182H	probably damaging	Het
Ppid	A	G	3: 79,510,373 (GRCm39)	I354V	probably benign	Het
Prss2	T	C	6: 41,501,387 (GRCm39)	V152A	probably benign	Het
Rab28	C	T	5: 41,793,223 (GRCm39)	A141T	probably benign	Het
Rabgap1l	C	T	1: 160,472,877 (GRCm39)		probably null	Het
Rabl6	T	G	2: 25,475,415 (GRCm39)	S553R	probably damaging	Het
Rars1	A	G	11: 35,717,374 (GRCm39)	F170S	possibly damaging	Het
Ror2	T	A	13: 53,267,116 (GRCm39)	M440L	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Homo
Rsph4a	A	T	10: 33,785,139 (GRCm39)	Q350L	probably damaging	Het
Serpinb2	T	C	1: 107,450,869 (GRCm39)	F204L	probably damaging	Het
Sertad4	T	C	1: 192,533,257 (GRCm39)		probably null	Het
Shisa3	C	T	5: 67,768,486 (GRCm39)	P129S	probably benign	Het
Slc13a2	G	A	11: 78,295,534 (GRCm39)	L111F	probably damaging	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Stab2	T	A	10: 86,743,025 (GRCm39)	R1195W	probably damaging	Het
Syna	C	A	5: 134,588,968 (GRCm39)		probably benign	Het
Thada	A	T	17: 84,744,030 (GRCm39)	D759E	probably benign	Het
Thoc5	A	G	11: 4,869,753 (GRCm39)	Y385C	possibly damaging	Het
Thsd7a	C	T	6: 12,327,601 (GRCm39)	D1424N	probably damaging	Het
Thsd7b	A	T	1: 130,090,599 (GRCm39)	Q1204L	probably benign	Het
Tnfrsf8	T	C	4: 145,029,671 (GRCm39)	N43S	possibly damaging	Het
Trim66	T	C	7: 109,059,481 (GRCm39)	K921R	probably benign	Het
Uaca	G	A	9: 60,777,326 (GRCm39)	R571Q	probably damaging	Het
Ugt2a2	T	G	5: 87,610,818 (GRCm39)	K339N	probably benign	Het
Vmn2r8	T	C	5: 108,947,211 (GRCm39)	T514A	probably benign	Het
Wrn	A	T	8: 33,774,682 (GRCm39)	M652K	possibly damaging	Het
Yme1l1	A	T	2: 23,083,184 (GRCm39)	Y550F	probably benign	Het
Zfp995	G	A	17: 22,099,269 (GRCm39)	P322S	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
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
R7818:Ap1g2	UTSW	14	55,337,181 (GRCm39)	missense	probably benign	0.44
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'- ACACCTTCGTTCCCTGAGAC -3'
(R):5'- AACCAGGTGAGTTGTCAGAC -3'

Sequencing Primer
(F):5'- CTTTATTAAAGGAACACCGGGTGAC -3'
(R):5'- AGTTGTCAGACGCTGCG -3'

Posted On

2018-02-28