Mutagenetix > Incidental Mutation

Incidental Mutation 'R6964:Ap1g2'

541907

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

045074-MU

Accession Numbers

Essential gene?

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

Stock #

R6964 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55336292-55344050 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55336722 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 750 (V750D)

Ref Sequence

ENSEMBL: ENSMUSP00000128427 (fasta)

Gene Model

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

AlphaFold

O88512

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036041
AA Change: V750D

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000043996
Gene: ENSMUSG00000040701
AA Change: V750D

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

possibly damaging
Transcript: ENSMUST00000170285
AA Change: V750D

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000128427
Gene: ENSMUSG00000040701
AA Change: V750D

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: 99.4%
20x: 97.9%

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
A630089N07Rik	A	T	16: 97,866,959 (GRCm39)	Y334*	probably null	Het
Abcc2	A	C	19: 43,786,515 (GRCm39)	I116L	probably benign	Het
Adamts17	T	A	7: 66,559,148 (GRCm39)	Y313N	possibly damaging	Het
Adamts17	A	G	7: 66,654,101 (GRCm39)	T444A	probably benign	Het
Adamtsl1	A	G	4: 86,075,091 (GRCm39)	I153V	probably damaging	Het
Ambra1	C	T	2: 91,747,761 (GRCm39)	Q1046*	probably null	Het
Bcl7a	T	C	5: 123,507,519 (GRCm39)		probably null	Het
C4bp	A	T	1: 130,585,009 (GRCm39)	L9Q	probably damaging	Het
Cadps2	A	C	6: 23,583,458 (GRCm39)	V344G	probably damaging	Het
Car7	A	G	8: 105,270,213 (GRCm39)	D15G	possibly damaging	Het
Cep126	G	C	9: 8,112,101 (GRCm39)	H157Q	probably null	Het
Chst11	C	T	10: 83,027,215 (GRCm39)	T214I	probably damaging	Het
Cntrob	G	A	11: 69,200,317 (GRCm39)	R526*	probably null	Het
Cul1	A	G	6: 47,493,443 (GRCm39)	T445A	probably benign	Het
Dclre1c	T	C	2: 3,454,206 (GRCm39)	V363A	possibly damaging	Het
Dock10	T	A	1: 80,481,365 (GRCm39)		probably benign	Het
Donson	A	G	16: 91,478,107 (GRCm39)	Y465H	probably benign	Het
Eif3e	G	A	15: 43,135,685 (GRCm39)	A118V	probably benign	Het
Fam47e	A	T	5: 92,713,911 (GRCm39)	Q180L	probably damaging	Het
Fat1	T	G	8: 45,496,982 (GRCm39)	C4156G	probably damaging	Het
Fermt2	A	T	14: 45,702,599 (GRCm39)	I441K	probably damaging	Het
Frmd4b	C	T	6: 97,282,158 (GRCm39)	R510Q	probably damaging	Het
Fscn1	C	T	5: 142,946,415 (GRCm39)	A71V	probably damaging	Het
Gfap	G	A	11: 102,787,783 (GRCm39)	A54V	possibly damaging	Het
Gjc3	C	T	5: 137,955,759 (GRCm39)	M175I	probably benign	Het
Gm10645	C	T	8: 83,892,581 (GRCm39)		probably benign	Het
Haus5	G	A	7: 30,357,040 (GRCm39)	P464S	probably benign	Het
Helz2	T	A	2: 180,872,221 (GRCm39)	I2584F	probably damaging	Het
Mak	T	A	13: 41,186,067 (GRCm39)	I534L	probably benign	Het
Map3k9	T	C	12: 81,819,777 (GRCm39)	D159G	probably benign	Het
Mcat	A	G	15: 83,432,132 (GRCm39)		probably benign	Het
Meltf	A	G	16: 31,698,980 (GRCm39)	D30G	probably benign	Het
Ntng2	T	A	2: 29,087,041 (GRCm39)	Y452F	probably benign	Het
Or10ag60	T	C	2: 87,437,957 (GRCm39)	L75P	probably damaging	Het
Or4a72	T	A	2: 89,405,333 (GRCm39)	I246F	probably benign	Het
Or5b118	T	A	19: 13,448,725 (GRCm39)	Y130*	probably null	Het
Or5p53	A	T	7: 107,532,966 (GRCm39)	I80L	probably benign	Het
Paip1	C	T	13: 119,587,306 (GRCm39)	T390I	possibly damaging	Het
Pianp	T	A	6: 124,976,353 (GRCm39)	V54D	possibly damaging	Het
Ptprn	T	C	1: 75,237,293 (GRCm39)	D103G	possibly damaging	Het
Rhcg	A	G	7: 79,250,279 (GRCm39)	V268A	probably benign	Het
Rhoj	T	A	12: 75,422,163 (GRCm39)	Y74N	probably damaging	Het
Rigi	A	G	4: 40,225,697 (GRCm39)	S235P	probably benign	Het
Snx13	A	C	12: 35,169,788 (GRCm39)	T578P	possibly damaging	Het
Star	T	A	8: 26,301,851 (GRCm39)	H227Q	probably benign	Het
Stau2	A	C	1: 16,460,229 (GRCm39)	M204R	probably damaging	Het
Steap4	A	G	5: 8,025,568 (GRCm39)	Y43C	probably damaging	Het
Syt8	A	G	7: 141,993,158 (GRCm39)	E21G	probably benign	Het
Tacr3	T	C	3: 134,535,500 (GRCm39)	V156A	probably damaging	Het
Tmem106b	C	T	6: 13,082,422 (GRCm39)	T199M	probably benign	Het
Tmem131	T	C	1: 36,835,373 (GRCm39)	T1583A	probably damaging	Het
Tom1	G	A	8: 75,778,593 (GRCm39)	V87I	probably null	Het
Treml4	G	T	17: 48,579,847 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,544,457 (GRCm39)	K32843R	probably damaging	Het
Wdr95	T	G	5: 149,505,315 (GRCm39)	C223W	probably damaging	Het
Wipi1	C	T	11: 109,494,590 (GRCm39)	R81Q	probably benign	Het
Zc3h7a	G	A	16: 10,967,088 (GRCm39)	T568I	probably benign	Het
Zfp287	A	T	11: 62,615,643 (GRCm39)	I228N	probably damaging	Het
Zfp606	T	A	7: 12,223,519 (GRCm39)	V10E	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
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'- AAGATCTCCTGTACTGGCTGG -3'
(R):5'- GGTAGCCAGGGAATTTCAGG -3'

Sequencing Primer
(F):5'- CTGGCCAGAGTGGTTGTAG -3'
(R):5'- TAGCCAGGGAATTTCAGGAGAAG -3'

Posted On

2018-11-28