Mutagenetix > Incidental Mutation

Incidental Mutation 'R7035:Gga2'

546605

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

045136-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7035 (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 121588939 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 596 (D596G)

Ref Sequence

ENSEMBL: ENSMUSP00000115581 (fasta)

Gene Model

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

AlphaFold

Q6P5E6

Predicted Effect

probably damaging
Transcript: ENSMUST00000033160
AA Change: D596G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000033160
Gene: ENSMUSG00000030872
AA Change: D596G

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 damaging
Transcript: ENSMUST00000124566
AA Change: D596G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115581
Gene: ENSMUSG00000030872
AA Change: D596G

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

Meta Mutation Damage Score

0.0965

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (70/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	T	A	3: 68,777,272 (GRCm39)	F78I	probably benign	Het
1700102P08Rik	A	T	9: 108,272,510 (GRCm39)	D140V	possibly damaging	Het
6430548M08Rik	A	T	8: 120,879,225 (GRCm39)	S208C	probably damaging	Het
Abcd4	G	T	12: 84,662,123 (GRCm39)	T41K	probably damaging	Het
Acaca	C	T	11: 84,129,769 (GRCm39)	R375C	probably damaging	Het
Acad11	T	A	9: 103,990,694 (GRCm39)	V433D	probably damaging	Het
Adal	T	A	2: 120,985,942 (GRCm39)	C226S	probably benign	Het
Aldh3b2	A	T	19: 4,028,142 (GRCm39)	M95L	probably benign	Het
Ano4	A	G	10: 88,790,573 (GRCm39)	F842S	probably damaging	Het
Ap5s1	T	C	2: 131,054,732 (GRCm39)	F181S	probably damaging	Het
Apba1	G	A	19: 23,894,931 (GRCm39)	D456N	possibly damaging	Het
Armh4	T	A	14: 50,010,507 (GRCm39)	H400L	possibly damaging	Het
Atp6v0a1	A	C	11: 100,918,183 (GRCm39)	Q199H	probably damaging	Het
Atp8a1	C	G	5: 67,938,373 (GRCm39)	G161A	probably benign	Het
Atxn2	C	T	5: 121,949,530 (GRCm39)	Q61*	probably null	Het
Cacna2d1	T	A	5: 16,451,670 (GRCm39)	I178K	probably damaging	Het
Catsperb	A	C	12: 101,381,593 (GRCm39)	T92P	probably damaging	Het
Ccdc175	A	G	12: 72,202,419 (GRCm39)	I292T	probably benign	Het
Cep290	T	A	10: 100,334,933 (GRCm39)	S318T	probably benign	Het
Cfb	T	A	17: 35,079,007 (GRCm39)	Y826F	possibly damaging	Het
Cntn1	C	A	15: 92,212,392 (GRCm39)	D851E	probably benign	Het
Coq6	A	G	12: 84,415,415 (GRCm39)	D146G	probably damaging	Het
Crem	G	A	18: 3,327,503 (GRCm39)	T12I	probably damaging	Het
Dennd4c	G	A	4: 86,730,574 (GRCm39)	V824I	probably damaging	Het
Dnase2b	C	T	3: 146,288,096 (GRCm39)	C333Y	probably damaging	Het
Dop1a	T	A	9: 86,406,355 (GRCm39)	F365I	possibly damaging	Het
Dysf	A	T	6: 84,163,374 (GRCm39)	I1570F	probably benign	Het
Eml1	T	A	12: 108,475,493 (GRCm39)	C275S	probably damaging	Het
Fam135b	A	C	15: 71,334,102 (GRCm39)	S1031A	possibly damaging	Het
Gin1	A	C	1: 97,720,100 (GRCm39)	Y365S	possibly damaging	Het
Gipr	T	A	7: 18,896,809 (GRCm39)	I154F	probably damaging	Het
Gm5478	A	T	15: 101,553,632 (GRCm39)	I284N	possibly damaging	Het
Gnat1	A	T	9: 107,553,827 (GRCm39)		probably benign	Het
Gsdmc	A	T	15: 63,650,569 (GRCm39)		probably null	Het
Lama1	T	A	17: 68,088,044 (GRCm39)	I1554N		Het
Mycbp2	T	A	14: 103,412,417 (GRCm39)	T2519S	probably benign	Het
Mylk	G	A	16: 34,797,352 (GRCm39)	V1604M	possibly damaging	Het
Mypop	C	T	7: 18,725,922 (GRCm39)		probably benign	Het
Nol6	A	T	4: 41,118,479 (GRCm39)	V774E	probably benign	Het
Nol8	T	C	13: 49,814,678 (GRCm39)	V262A	probably benign	Het
Npepps	A	T	11: 97,113,965 (GRCm39)	V637D	probably damaging	Het
Or1e16	T	C	11: 73,286,544 (GRCm39)	I101M	probably benign	Het
Or4f52	A	G	2: 111,061,784 (GRCm39)	M118T	probably damaging	Het
Or5p52	T	C	7: 107,502,140 (GRCm39)	V72A	probably benign	Het
Pcdhgb8	A	T	18: 37,896,201 (GRCm39)	I424F	possibly damaging	Het
Phf7	A	C	14: 30,961,183 (GRCm39)	W231G	probably damaging	Het
Plagl1	A	G	10: 13,003,977 (GRCm39)		probably benign	Het
Plat	A	T	8: 23,262,327 (GRCm39)	D117V	probably benign	Het
Prkag2	T	C	5: 25,152,564 (GRCm39)	Y180C	probably damaging	Het
Prpf8	T	C	11: 75,395,654 (GRCm39)	I1927T	possibly damaging	Het
Ptchd1	T	A	X: 154,357,708 (GRCm39)	Y499F	probably damaging	Het
Rad17	T	A	13: 100,764,133 (GRCm39)	D446V	possibly damaging	Het
Ralgapa2	G	T	2: 146,353,777 (GRCm39)	Q15K	probably damaging	Het
Ret	A	G	6: 118,140,247 (GRCm39)	Y982H	probably damaging	Het
Rnf145	T	A	11: 44,452,583 (GRCm39)	S521T	probably damaging	Het
Samd4	G	A	14: 47,326,620 (GRCm39)		silent	Het
Sardh	T	C	2: 27,120,854 (GRCm39)	D390G	probably damaging	Het
Saxo1	T	C	4: 86,363,359 (GRCm39)	T375A	probably damaging	Het
Scly	A	G	1: 91,236,125 (GRCm39)	T126A	probably damaging	Het
Slc6a16	T	A	7: 44,910,251 (GRCm39)	V307D	probably damaging	Het
Sned1	T	C	1: 93,189,852 (GRCm39)	C320R	probably damaging	Het
Sspo	G	A	6: 48,426,147 (GRCm39)		probably null	Het
Sycp2l	C	T	13: 41,310,973 (GRCm39)	T645I	unknown	Het
Tpmt	T	C	13: 47,193,584 (GRCm39)	K72E	probably damaging	Het
Tsbp1	C	T	17: 34,679,305 (GRCm39)		probably benign	Het
Ube2q2l	G	A	6: 136,378,347 (GRCm39)	T161M	possibly damaging	Het
Vmn1r51	A	T	6: 90,106,207 (GRCm39)	H41L	probably benign	Het
Wdfy3	A	T	5: 102,003,415 (GRCm39)	I2900N	probably damaging	Het
Zfp663	A	G	2: 165,195,023 (GRCm39)	S399P	probably benign	Het
Zfp692	T	C	11: 58,200,268 (GRCm39)		probably null	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
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'- TCTCAGAGGTGGTCAGCATC -3'
(R):5'- AAGCTGTTCCTTGGAGAGTC -3'

Sequencing Primer
(F):5'- GTGGTCAGCATCCCCCATACTG -3'
(R):5'- AAGCTGTTCCTTGGAGAGTCTTAAG -3'

Posted On

2019-05-13