Incidental Mutation 'R6486:Gga2'
ID 517337
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 044618-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6486 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 121585945-121620421 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121601411 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 231 (S231P)
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: S231P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033160
Gene: ENSMUSG00000030872
AA Change: S231P

DomainStartEndE-ValueType
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: S231P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115581
Gene: ENSMUSG00000030872
AA Change: S231P

DomainStartEndE-ValueType
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: ENSMUST00000138441
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144779
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145277
Meta Mutation Damage Score 0.2934 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 100% (30/30)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna1d T A 14: 29,836,190 (GRCm39) M853L probably benign Het
Cacna2d1 C T 5: 16,524,448 (GRCm39) probably null Het
Capg G T 6: 72,534,733 (GRCm39) E187* probably null Het
Carns1 C T 19: 4,219,979 (GRCm39) A419T probably benign Het
Cpt1b A G 15: 89,305,027 (GRCm39) M407T probably benign Het
Dlg2 A T 7: 91,521,582 (GRCm39) probably null Het
Ep400 T C 5: 110,845,084 (GRCm39) probably benign Het
Epha4 T C 1: 77,360,186 (GRCm39) N704D probably damaging Het
Gpbp1l1 A G 4: 116,438,572 (GRCm39) K223E probably damaging Het
Homer1 A T 13: 93,528,233 (GRCm39) N78I possibly damaging Het
Lmbr1 C T 5: 29,528,859 (GRCm39) V122M probably damaging Het
Mpeg1 C A 19: 12,439,469 (GRCm39) A309E probably damaging Het
Myo18a A G 11: 77,755,648 (GRCm39) E1713G possibly damaging Het
Neto1 A G 18: 86,479,371 (GRCm39) I186M probably benign Het
Nfasc T C 1: 132,532,952 (GRCm39) D668G probably damaging Het
Nlrc5 T C 8: 95,247,927 (GRCm39) probably null Het
Or1j11 A T 2: 36,311,556 (GRCm39) I49F probably damaging Het
Or5b124 T G 19: 13,611,055 (GRCm39) N193K probably damaging Het
Or8c11 G A 9: 38,289,200 (GRCm39) V2I probably benign Het
Peg10 GAT GATCAT 6: 4,756,449 (GRCm39) probably benign Het
Prkdc T C 16: 15,570,628 (GRCm39) S2304P probably damaging Het
Sgsm3 T C 15: 80,895,546 (GRCm39) I699T probably damaging Het
Slc8b1 T C 5: 120,671,067 (GRCm39) F551S probably damaging Het
Stra6 TC T 9: 58,058,705 (GRCm39) probably null Het
Tlr3 T C 8: 45,851,650 (GRCm39) probably null Het
Tnfrsf22 T C 7: 143,194,493 (GRCm39) T145A possibly damaging Het
Trp63 A T 16: 25,684,090 (GRCm39) T326S probably damaging Het
Unc45a C G 7: 79,989,400 (GRCm39) E23Q probably benign Het
Vmn1r234 A T 17: 21,449,604 (GRCm39) M173L probably benign Het
Vmn2r13 T G 5: 109,304,425 (GRCm39) I669L probably benign Het
Vwa5a G A 9: 38,645,174 (GRCm39) G420R probably null Het
Other mutations in Gga2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- ACTCTCCAGACCAGAATGGCAG -3'
(R):5'- AGACGATATTGTCACCTGCAGG -3'

Sequencing Primer
(F):5'- TGGCAGCCACAGAACACATG -3'
(R):5'- TCACCTGCAGGAATTCTGG -3'
Posted On 2018-05-21