Mutagenetix > Incidental Mutation

Incidental Mutation 'R7454:Gga2'

577994

Institutional Source

Beutler Lab

Gene Symbol

Gga2

Ensembl Gene

ENSMUSG00000030872

Gene Name

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

Synonyms

1200007E24Rik

MMRRC Submission

045528-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7454 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121585945-121620421 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121601369 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 245 (R245G)

Ref Sequence

ENSEMBL: ENSMUSP00000033160 (fasta)

Gene Model

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

AlphaFold

Q6P5E6

Predicted Effect

probably benign
Transcript: ENSMUST00000033160
AA Change: R245G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000033160
Gene: ENSMUSG00000030872
AA Change: R245G

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
AA Change: R245G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000115581
Gene: ENSMUSG00000030872
AA Change: R245G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (90/90)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510002D24Rik	A	G	16: 18,655,601 (GRCm39)	E57G	possibly damaging	Het
4932414N04Rik	C	A	2: 68,518,648 (GRCm39)	T159K	unknown	Het
Adamts10	T	A	17: 33,763,979 (GRCm39)	F616L	possibly damaging	Het
Adtrp	G	A	13: 41,981,791 (GRCm39)	S26L	unknown	Het
Alpk3	A	C	7: 80,728,310 (GRCm39)	E480A	probably benign	Het
Anks6	T	C	4: 47,038,919 (GRCm39)	T529A	unknown	Het
Arl4d	A	G	11: 101,557,486 (GRCm39)	H4R	probably benign	Het
Ash1l	A	G	3: 88,891,172 (GRCm39)	H1017R	probably benign	Het
Bbs12	T	C	3: 37,375,102 (GRCm39)	S517P	possibly damaging	Het
Bcl11b	C	A	12: 107,882,467 (GRCm39)	R616L	possibly damaging	Het
Bean1	G	A	8: 104,937,658 (GRCm39)	G79D	probably damaging	Het
Bicra	C	G	7: 15,706,059 (GRCm39)	G1461R	probably benign	Het
Bptf	T	C	11: 106,935,466 (GRCm39)	T124A	probably benign	Het
Btnl4	A	T	17: 34,691,348 (GRCm39)	V312E	probably benign	Het
Ccdc7a	A	G	8: 129,670,997 (GRCm39)	M503T	unknown	Het
Celf5	T	C	10: 81,318,357 (GRCm39)	E28G	probably damaging	Het
Cilp2	G	A	8: 70,336,040 (GRCm39)	L350F	probably damaging	Het
Clec4a2	T	C	6: 123,119,411 (GRCm39)	I245T	probably damaging	Het
Ctnnal1	A	T	4: 56,844,544 (GRCm39)	V140D	probably damaging	Het
Dennd4a	A	C	9: 64,759,852 (GRCm39)	H319P	probably damaging	Het
Dlgap3	G	T	4: 127,128,852 (GRCm39)	L857F	probably null	Het
Dnah6	T	A	6: 73,189,475 (GRCm39)	T58S	probably damaging	Het
Dnah7a	T	A	1: 53,557,923 (GRCm39)	M2164L	probably benign	Het
Dspp	T	A	5: 104,323,476 (GRCm39)	H206Q	probably benign	Het
Dzip1l	G	A	9: 99,541,727 (GRCm39)	V443M	possibly damaging	Het
Erc2	A	G	14: 28,024,948 (GRCm39)	H939R	possibly damaging	Het
Fam149a	G	T	8: 45,801,583 (GRCm39)	H513N	probably benign	Het
Fam171a2	T	C	11: 102,330,543 (GRCm39)	T280A	possibly damaging	Het
Fkbp5	A	C	17: 28,634,999 (GRCm39)	V170G	probably damaging	Het
Fnbp4	ACCACCTCCACCTCCACCTCC	ACCACCTCCACCTCCACCTCCACCTCC	2: 90,608,159 (GRCm39)		probably benign	Het
Fzd2	T	C	11: 102,495,955 (GRCm39)	F133S	probably damaging	Het
Galm	A	G	17: 80,445,550 (GRCm39)	N100S	possibly damaging	Het
Gbp2b	T	A	3: 142,303,920 (GRCm39)	I5N	possibly damaging	Het
Gm10053	A	G	19: 24,853,264 (GRCm39)	T50A	probably benign	Het
Gm1110	T	C	9: 26,831,945 (GRCm39)	T69A	probably benign	Het
Heatr5a	T	C	12: 52,008,326 (GRCm39)	S6G	probably benign	Het
Hmcn1	A	G	1: 150,439,355 (GRCm39)	S5610P	probably damaging	Het
Hmgb4	A	G	4: 128,154,199 (GRCm39)	V123A	probably damaging	Het
Itgal	C	A	7: 126,926,936 (GRCm39)	Q943K	probably benign	Het
Jakmip1	C	A	5: 37,332,498 (GRCm39)	D1059E	probably damaging	Het
Jazf1	T	C	6: 52,870,929 (GRCm39)		probably null	Het
Kat6a	A	G	8: 23,425,788 (GRCm39)	E1111G	possibly damaging	Het
Kdm4b	C	A	17: 56,696,639 (GRCm39)	P452T	probably benign	Het
Krit1	T	C	5: 3,862,474 (GRCm39)	Y210H	probably damaging	Het
Krtap6-2	A	T	16: 89,216,800 (GRCm39)	Y56N	unknown	Het
Lig1	A	T	7: 13,022,647 (GRCm39)	D158V	probably damaging	Het
Lmo1	A	T	7: 108,739,873 (GRCm39)	L94Q	probably benign	Het
Lrrc30	A	T	17: 67,939,238 (GRCm39)	L114H	probably damaging	Het
Ltn1	T	C	16: 87,194,700 (GRCm39)	I1400V	probably benign	Het
Mark3	T	C	12: 111,570,961 (GRCm39)	I87T	probably damaging	Het
Mfrp	G	T	9: 44,016,480 (GRCm39)	V392F	possibly damaging	Het
Mrgprg	A	G	7: 143,318,872 (GRCm39)	L80P	probably damaging	Het
Ndufaf3	A	T	9: 108,444,125 (GRCm39)	M1K	probably null	Het
Nme7	T	A	1: 164,208,217 (GRCm39)	L295*	probably null	Het
Noct	G	T	3: 51,157,151 (GRCm39)	C163F	probably damaging	Het
Or11h4b	T	A	14: 50,918,281 (GRCm39)	Q270L	possibly damaging	Het
Or13a26	A	T	7: 140,284,547 (GRCm39)	I128F	probably damaging	Het
Or4b1	T	A	2: 89,979,763 (GRCm39)	I196F	possibly damaging	Het
Or5ak22	T	A	2: 85,229,955 (GRCm39)	K307N	probably damaging	Het
Or6c203	T	A	10: 129,010,324 (GRCm39)	T189S	probably damaging	Het
Or8g2	A	G	9: 39,821,200 (GRCm39)	I34V	probably benign	Het
Patz1	C	T	11: 3,248,297 (GRCm39)		probably benign	Het
Per3	A	G	4: 151,097,185 (GRCm39)	L780P	probably benign	Het
Pira1	T	G	7: 3,738,509 (GRCm39)	E622D	probably benign	Het
Pla2g4a	T	C	1: 149,748,441 (GRCm39)	M256V	possibly damaging	Het
Pnliprp1	A	G	19: 58,729,532 (GRCm39)	K395R	probably benign	Het
Poc5	G	T	13: 96,537,340 (GRCm39)	G242V	possibly damaging	Het
Ppfia4	A	G	1: 134,251,873 (GRCm39)	S434P	possibly damaging	Het
Prss42	A	G	9: 110,627,897 (GRCm39)	N110S	probably benign	Het
Ralgapb	T	A	2: 158,274,822 (GRCm39)	I241N	possibly damaging	Het
Rbak	A	C	5: 143,159,528 (GRCm39)	Y508*	probably null	Het
S1pr2	G	T	9: 20,878,845 (GRCm39)	R328S	possibly damaging	Het
Sap130	T	C	18: 31,783,565 (GRCm39)	M214T	probably benign	Het
Slc46a1	T	A	11: 78,357,337 (GRCm39)	V130E	probably damaging	Het
Smc4	A	T	3: 68,925,457 (GRCm39)	H343L	probably benign	Het
Tarbp1	C	A	8: 127,184,416 (GRCm39)	R500L	probably benign	Het
Tasor2	A	G	13: 3,635,332 (GRCm39)	S492P	probably benign	Het
Tgfbr3	A	T	5: 107,362,894 (GRCm39)	H39Q	probably damaging	Het
Tpp2	T	C	1: 43,993,819 (GRCm39)	S235P	probably benign	Het
Trbc2	G	T	6: 41,523,763 (GRCm39)	R33M		Het
Trim3	C	T	7: 105,268,765 (GRCm39)	R63Q	probably damaging	Het
Ttc28	T	C	5: 111,433,350 (GRCm39)	V2128A	probably benign	Het
Ttn	C	T	2: 76,556,162 (GRCm39)	R30281H	probably damaging	Het
Ttn	T	A	2: 76,774,483 (GRCm39)	Q2187L	unknown	Het
Ttyh3	T	C	5: 140,615,180 (GRCm39)	S403G	possibly damaging	Het
Vmn2r112	A	T	17: 22,822,288 (GRCm39)	D322V	probably benign	Het
Wdr38	C	T	2: 38,888,352 (GRCm39)		probably benign	Het
Xrn1	T	A	9: 95,930,411 (GRCm39)	S1543R	probably benign	Het
Zbtb8b	G	A	4: 129,326,562 (GRCm39)	T201I	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
R6395:Gga2	UTSW	7	121,607,661 (GRCm39)	splice site	probably null
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
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'- ACTCTCCAGACCAGAATGGC -3'
(R):5'- AGACGATATTGTCACCTGCAG -3'

Sequencing Primer
(F):5'- TGGCAGCCACAGAACACATG -3'
(R):5'- TCACCTGCAGGAATTCTGG -3'

Posted On

2019-10-07