Incidental Mutation 'R8817:Gga2'
ID 672804
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 068727-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8817 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 121585945-121620421 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 121590845 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 488 (R488*)
Ref Sequence ENSEMBL: ENSMUSP00000033160 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033160] [ENSMUST00000124566]
AlphaFold Q6P5E6
Predicted Effect probably null
Transcript: ENSMUST00000033160
AA Change: R488*
SMART Domains Protein: ENSMUSP00000033160
Gene: ENSMUSG00000030872
AA Change: R488*

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 null
Transcript: ENSMUST00000124566
AA Change: R488*
SMART Domains Protein: ENSMUSP00000115581
Gene: ENSMUSG00000030872
AA Change: R488*

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
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 99% (77/78)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 A G 4: 144,400,361 (GRCm39) V139A probably benign Het
Aass A T 6: 23,097,195 (GRCm39) Y41* probably null Het
AI429214 G A 8: 37,461,268 (GRCm39) V139I probably benign Het
Cacna1a G A 8: 85,365,426 (GRCm39) A2190T probably benign Het
Cstpp1 A G 2: 91,107,343 (GRCm39) Y320H probably benign Het
Cutc T C 19: 43,744,113 (GRCm39) V38A probably benign Het
Cxcl10 G T 5: 92,495,230 (GRCm39) P98H probably damaging Het
Dop1a T C 9: 86,396,003 (GRCm39) S822P possibly damaging Het
Dusp19 T C 2: 80,454,631 (GRCm39) L117P probably damaging Het
Emc3 A G 6: 113,492,868 (GRCm39) F261S probably damaging Het
Ephx2 T C 14: 66,344,725 (GRCm39) T200A probably benign Het
Eri1 A C 8: 35,945,792 (GRCm39) D164E probably damaging Het
Ethe1 T C 7: 24,305,727 (GRCm39) I158T probably damaging Het
Fancm C T 12: 65,167,331 (GRCm39) R1547C probably damaging Het
Fer1l4 T A 2: 155,890,143 (GRCm39) T261S probably damaging Het
Fyb2 A G 4: 104,802,652 (GRCm39) R185G probably benign Het
Gabrp A T 11: 33,504,464 (GRCm39) S284T possibly damaging Het
Gm9758 A G 5: 14,962,230 (GRCm39) L126S probably damaging Het
Gse1 T C 8: 121,294,542 (GRCm39) F290L probably damaging Het
Hdgfl1 A G 13: 26,954,068 (GRCm39) S2P probably damaging Het
Hmmr G A 11: 40,612,499 (GRCm39) S206F probably damaging Het
Huwe1 A G X: 150,669,993 (GRCm39) K1482R probably benign Het
Lama2 A T 10: 27,063,869 (GRCm39) W1307R probably damaging Het
Map3k6 A G 4: 132,974,071 (GRCm39) K517E probably benign Het
Mbl1 T A 14: 40,875,555 (GRCm39) L3Q unknown Het
Mepe G T 5: 104,485,151 (GRCm39) R97L probably benign Het
Minpp1 T A 19: 32,463,747 (GRCm39) M136K possibly damaging Het
Mrgprb1 T A 7: 48,097,070 (GRCm39) I281F probably benign Het
Naip5 T C 13: 100,349,207 (GRCm39) I1374V probably benign Het
Or14j8 A G 17: 38,263,273 (GRCm39) I214T probably damaging Het
Or4c12 A G 2: 89,773,790 (GRCm39) L223S probably damaging Het
Or52e19b A T 7: 103,032,825 (GRCm39) I128N probably damaging Het
Or8g34 C T 9: 39,373,387 (GRCm39) S217F probably damaging Het
Or8g37 G T 9: 39,730,939 (GRCm39) M1I probably null Het
Pamr1 T G 2: 102,464,766 (GRCm39) V305G probably benign Het
Pcbp3 T C 10: 76,625,670 (GRCm39) T125A probably benign Het
Peli2 G A 14: 48,490,130 (GRCm39) E201K possibly damaging Het
Pitpnm3 T C 11: 71,941,894 (GRCm39) E971G possibly damaging Het
Pkdrej A G 15: 85,702,774 (GRCm39) V1054A probably damaging Het
Plcb1 G A 2: 135,175,429 (GRCm39) probably benign Het
Prpf40a T C 2: 53,042,971 (GRCm39) K480E probably damaging Het
Psd3 A G 8: 68,413,135 (GRCm39) I465T possibly damaging Het
Pskh1 C T 8: 106,656,352 (GRCm39) R343W probably damaging Het
Ptprz1 A T 6: 23,007,371 (GRCm39) T1645S probably damaging Het
Rasal1 T C 5: 120,808,416 (GRCm39) F483L probably damaging Het
Rbm28 T C 6: 29,155,023 (GRCm39) probably benign Het
Recql G A 6: 142,304,612 (GRCm39) probably benign Het
Rnf40 T C 7: 127,196,332 (GRCm39) V760A probably damaging Het
Rp1l1 A T 14: 64,268,085 (GRCm39) R1224W probably benign Het
Rpgrip1 T C 14: 52,378,056 (GRCm39) V468A probably benign Het
Ryr2 T A 13: 11,750,509 (GRCm39) I1921F possibly damaging Het
Sirpa G A 2: 129,435,558 (GRCm39) G9D unknown Het
Slc28a2b A T 2: 122,348,988 (GRCm39) T305S possibly damaging Het
Slc40a1 A C 1: 45,948,699 (GRCm39) V527G probably damaging Het
Smarca4 T A 9: 21,547,497 (GRCm39) M260K probably benign Het
Smarca5 A T 8: 81,460,379 (GRCm39) M119K probably benign Het
Smg1 A G 7: 117,758,887 (GRCm39) V2206A unknown Het
Sp4 A T 12: 118,225,624 (GRCm39) V580D possibly damaging Het
Spata31d1c G A 13: 65,182,376 (GRCm39) C75Y probably damaging Het
Sppl2b TGTCACAGGT TGT 10: 80,701,903 (GRCm39) probably null Het
Srcap T C 7: 127,152,395 (GRCm39) S2220P probably benign Het
Stra6 G T 9: 58,059,265 (GRCm39) V543F possibly damaging Het
Tenm4 T A 7: 96,523,335 (GRCm39) F1626I probably benign Het
Tjp1 T C 7: 64,952,810 (GRCm39) N1508S probably benign Het
Trrap T A 5: 144,782,348 (GRCm39) L3298Q probably damaging Het
Tsn A G 1: 118,232,470 (GRCm39) L135P probably damaging Het
Ttl A T 2: 128,910,778 (GRCm39) H54L probably damaging Het
Ttn T A 2: 76,660,251 (GRCm39) T12110S unknown Het
Uba6 T C 5: 86,296,772 (GRCm39) I306V probably null Het
Ubap2 A G 4: 41,223,425 (GRCm39) S204P possibly damaging Het
Unc13d AATGCCTCCCATGCC AATGCCTCCCATGCCTCCCATGCC 11: 115,958,998 (GRCm39) probably benign Het
Ush2a A T 1: 187,995,231 (GRCm39) M1L probably benign Het
Vmn1r159 C A 7: 22,542,559 (GRCm39) V158F probably benign Het
Wif1 A G 10: 120,932,621 (GRCm39) H333R possibly damaging Het
Zfp282 T A 6: 47,881,760 (GRCm39) N482K probably benign 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
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
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'- TACACCTAATGTCTCAGCAAGTGTG -3'
(R):5'- CCCTTTCCTAAGCTGGGTAGTG -3'

Sequencing Primer
(F):5'- TGTGCAGAAACAAGTCACTGTG -3'
(R):5'- CCTAAGCTGGGTAGTGTGATGAG -3'
Posted On 2021-04-30