Mutagenetix > Incidental Mutation

Incidental Mutation 'R6395:Gga2'

514717

Institutional Source

Beutler Lab

Gene Symbol

Gga2

Ensembl Gene

ENSMUSG00000030872

Gene Name

golgi associated, gamma adaptin ear containing, ARF binding protein 2

Synonyms

1200007E24Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6395 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121585945-121620421 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 121607661 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000033160 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033160] [ENSMUST00000124566]

AlphaFold

Q6P5E6

Predicted Effect

probably null
Transcript: ENSMUST00000033160

SMART Domains

Protein: ENSMUSP00000033160
Gene: ENSMUSG00000030872

Domain	Start	End	E-Value	Type
low complexity region	13	28	N/A	INTRINSIC
VHS	29	162	2.45e-58	SMART
Pfam:GAT	241	318	2.2e-20	PFAM
low complexity region	320	338	N/A	INTRINSIC
Alpha_adaptinC2	471	595	8.68e-39	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124566

SMART Domains

Protein: ENSMUSP00000115581
Gene: ENSMUSG00000030872

Domain	Start	End	E-Value	Type
low complexity region	13	28	N/A	INTRINSIC
VHS	29	162	2.45e-58	SMART
Pfam:GAT	225	326	1.3e-30	PFAM
Alpha_adaptinC2	471	595	8.68e-39	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131081

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145277

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.6%
20x: 98.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. This family member may play a significant role in cargo molecules regulation and clathrin-coated vesicle assembly. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit complete embryonic lethality. Mice homozygous for a different gene trapped allele show decreased birth weight, hypoglycemia and partial neonatal lethality, with all remaining mice dying within the first three weeks of life. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actc1	C	A	2: 113,879,731 (GRCm39)	E243*	probably null	Het
Ahi1	T	C	10: 20,855,491 (GRCm39)	I600T	possibly damaging	Het
Apob	A	G	12: 8,058,507 (GRCm39)	T2330A	probably benign	Het
Cabin1	A	T	10: 75,582,576 (GRCm39)	M280K	probably benign	Het
Ccdc117	T	C	11: 5,484,762 (GRCm39)		probably null	Het
Cct8	G	T	16: 87,283,364 (GRCm39)	Y292*	probably null	Het
Celf1	A	G	2: 90,834,203 (GRCm39)	I165V	probably benign	Het
Cenpc1	A	T	5: 86,183,429 (GRCm39)	N453K	probably benign	Het
Chst10	T	C	1: 38,910,770 (GRCm39)	I131M	probably damaging	Het
Cltc	A	G	11: 86,616,006 (GRCm39)	I420T	probably damaging	Het
Cspg4b	T	G	13: 113,506,003 (GRCm39)	C2377W	probably damaging	Het
Dact3	A	C	7: 16,617,086 (GRCm39)	Q95P	probably damaging	Het
Dennd2c	T	C	3: 103,056,540 (GRCm39)		probably null	Het
Dock2	G	T	11: 34,182,874 (GRCm39)	H1586Q	probably damaging	Het
Dst	T	C	1: 34,221,771 (GRCm39)	M2525T	probably benign	Het
Egflam	T	C	15: 7,261,176 (GRCm39)	H786R	probably damaging	Het
Eml6	T	C	11: 29,759,321 (GRCm39)	T811A	probably benign	Het
Epha1	T	C	6: 42,343,106 (GRCm39)	T148A	probably damaging	Het
Fsip1	A	C	2: 118,067,406 (GRCm39)	S306A	probably damaging	Het
Gm10801	C	CGTT	2: 98,494,152 (GRCm39)		probably benign	Het
Gm9837	T	A	11: 53,360,885 (GRCm39)		probably benign	Het
Gnl2	A	T	4: 124,940,058 (GRCm39)	Q310L	probably damaging	Het
H2-M1	T	C	17: 36,982,701 (GRCm39)	D53G	probably benign	Het
Hmcn2	T	A	2: 31,259,269 (GRCm39)	D1036E	probably damaging	Het
Htr3a	A	T	9: 48,811,871 (GRCm39)	D381E	probably benign	Het
Igdcc4	G	A	9: 65,042,400 (GRCm39)	G106R	probably damaging	Het
Igfbp2	A	G	1: 72,864,078 (GRCm39)	T114A	probably damaging	Het
Ints14	A	G	9: 64,885,406 (GRCm39)		probably null	Het
Kcnt1	T	A	2: 25,799,251 (GRCm39)	M906K	possibly damaging	Het
Kif13a	C	T	13: 46,905,931 (GRCm39)	V671M	possibly damaging	Het
Lars2	A	G	9: 123,200,990 (GRCm39)	Q18R	probably benign	Het
Mndal	C	T	1: 173,698,999 (GRCm39)	C222Y	possibly damaging	Het
Msto1	C	T	3: 88,812,781 (GRCm39)	A1854V	possibly damaging	Het
Musk	G	A	4: 58,286,169 (GRCm39)	G20R	probably benign	Het
Or6c215	G	T	10: 129,638,013 (GRCm39)	P127Q	probably damaging	Het
Oxct1	G	T	15: 4,056,309 (GRCm39)	S19I	possibly damaging	Het
Papss2	G	A	19: 32,641,876 (GRCm39)	G517D	probably damaging	Het
Parp14	T	C	16: 35,676,918 (GRCm39)	S1017G	probably benign	Het
Pde2a	A	G	7: 101,150,242 (GRCm39)	Q227R	probably benign	Het
Pdlim5	G	T	3: 142,020,183 (GRCm39)	P92Q	probably damaging	Het
Pkd1l3	C	T	8: 110,350,595 (GRCm39)	T480I	probably benign	Het
Pla2g4c	C	T	7: 13,077,933 (GRCm39)	T357I	probably benign	Het
Ppp3ca	A	G	3: 136,583,531 (GRCm39)	R213G	possibly damaging	Het
Pramel18	G	A	4: 101,767,189 (GRCm39)	R146H	probably benign	Het
Prrc1	C	T	18: 57,495,619 (GRCm39)	S32L	probably null	Het
Prss47	C	T	13: 65,197,116 (GRCm39)	V207I	probably benign	Het
Prtg	G	A	9: 72,819,414 (GRCm39)	V1136I	possibly damaging	Het
Psmb8	T	A	17: 34,418,265 (GRCm39)	M69K	possibly damaging	Het
Rb1	A	T	14: 73,436,636 (GRCm39)	D876E	probably damaging	Het
Rnasel	T	C	1: 153,637,867 (GRCm39)	M680T	probably damaging	Het
Rnf111	G	T	9: 70,383,692 (GRCm39)	N80K	possibly damaging	Het
Senp1	C	T	15: 97,946,074 (GRCm39)	C557Y	probably damaging	Het
Serpina3a	A	T	12: 104,082,710 (GRCm39)	Y161F	probably damaging	Het
Serpinb11	A	T	1: 107,299,781 (GRCm39)		probably null	Het
Sgpl1	C	A	10: 60,947,936 (GRCm39)		probably null	Het
Slc37a4	A	G	9: 44,310,576 (GRCm39)	Y60C	probably damaging	Het
Slc38a10	A	G	11: 120,015,208 (GRCm39)	S381P	probably benign	Het
Slc5a7	C	T	17: 54,585,849 (GRCm39)	V323I	probably damaging	Het
Slco1a7	T	A	6: 141,668,818 (GRCm39)		probably null	Het
Smarcal1	A	T	1: 72,655,716 (GRCm39)	E665V	possibly damaging	Het
Specc1	C	A	11: 62,023,164 (GRCm39)	N736K	probably damaging	Het
Tas2r121	T	C	6: 132,677,495 (GRCm39)	Y159C	probably benign	Het
Tex54	A	G	19: 8,718,462 (GRCm39)	D68G	probably benign	Het
Trank1	A	G	9: 111,196,268 (GRCm39)	I1431V	probably damaging	Het
Ttll6	T	C	11: 96,047,414 (GRCm39)	V671A	probably benign	Het
Ttn	A	T	2: 76,748,931 (GRCm39)		probably benign	Het
Uimc1	T	C	13: 55,188,389 (GRCm39)	T557A	possibly damaging	Het
Uri1	C	A	7: 37,661,974 (GRCm39)	V446L	probably benign	Het
Vpreb1b	C	T	16: 17,798,771 (GRCm39)	R86C	probably damaging	Het
Vwa8	A	G	14: 79,331,184 (GRCm39)	K1231E	probably benign	Het
Xcr1	G	A	9: 123,684,854 (GRCm39)	R303C	probably damaging	Het
Zfp619	C	A	7: 39,186,454 (GRCm39)	A828E	possibly damaging	Het
Zfp687	T	C	3: 94,915,049 (GRCm39)	S1151G	possibly damaging	Het

Other mutations in Gga2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01519:Gga2	APN	7	121,601,411 (GRCm39)	missense	probably damaging	1.00
IGL01577:Gga2	APN	7	121,589,006 (GRCm39)	missense	probably damaging	1.00
IGL01584:Gga2	APN	7	121,590,761 (GRCm39)	missense	probably benign
IGL01671:Gga2	APN	7	121,594,079 (GRCm39)	missense	probably benign	0.01
IGL01680:Gga2	APN	7	121,597,299 (GRCm39)	missense	probably benign	0.06
IGL02745:Gga2	APN	7	121,607,592 (GRCm39)	missense	probably damaging	1.00
R0122:Gga2	UTSW	7	121,590,797 (GRCm39)	missense	probably damaging	1.00
R0218:Gga2	UTSW	7	121,598,123 (GRCm39)	missense	possibly damaging	0.46
R1367:Gga2	UTSW	7	121,598,138 (GRCm39)	nonsense	probably null
R1774:Gga2	UTSW	7	121,611,444 (GRCm39)	missense	probably damaging	0.98
R4127:Gga2	UTSW	7	121,601,943 (GRCm39)	missense	probably damaging	1.00
R4510:Gga2	UTSW	7	121,620,301 (GRCm39)	missense	unknown
R6319:Gga2	UTSW	7	121,601,389 (GRCm39)	missense	possibly damaging	0.92
R6486:Gga2	UTSW	7	121,601,411 (GRCm39)	missense	probably damaging	1.00
R6952:Gga2	UTSW	7	121,598,111 (GRCm39)	missense	probably benign	0.00
R7035:Gga2	UTSW	7	121,588,939 (GRCm39)	missense	probably damaging	1.00
R7320:Gga2	UTSW	7	121,601,326 (GRCm39)	missense	probably benign
R7454:Gga2	UTSW	7	121,601,369 (GRCm39)	missense	probably benign	0.00
R7593:Gga2	UTSW	7	121,589,672 (GRCm39)	missense	probably benign	0.00
R7602:Gga2	UTSW	7	121,596,553 (GRCm39)	missense	probably benign	0.05
R7638:Gga2	UTSW	7	121,603,157 (GRCm39)	missense	probably damaging	1.00
R7736:Gga2	UTSW	7	121,589,747 (GRCm39)	missense	probably damaging	1.00
R8032:Gga2	UTSW	7	121,620,210 (GRCm39)	critical splice donor site	probably null
R8803:Gga2	UTSW	7	121,597,002 (GRCm39)	missense	probably benign	0.01
R8817:Gga2	UTSW	7	121,590,845 (GRCm39)	nonsense	probably null
R9420:Gga2	UTSW	7	121,603,195 (GRCm39)	missense	probably damaging	1.00
R9515:Gga2	UTSW	7	121,611,448 (GRCm39)	missense	probably damaging	1.00
R9660:Gga2	UTSW	7	121,606,494 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GGGTGATAAAGCCTGAAGGT -3'
(R):5'- GAAATGGCACTTCTAAACTGAGGA -3'

Sequencing Primer
(F):5'- CCTGAAGGTGGGGCACAG -3'
(R):5'- AAGGTGTCAGCTCTCCTAGAACG -3'

Posted On

2018-05-04