Incidental Mutation 'R8554:Golga2'
ID 660001
Institutional Source Beutler Lab
Gene Symbol Golga2
Ensembl Gene ENSMUSG00000002546
Gene Name golgin A2
Synonyms GM130
MMRRC Submission 068517-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.875) question?
Stock # R8554 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 32178299-32197925 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 32183357 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 80 (D80N)
Ref Sequence ENSEMBL: ENSMUSP00000097768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081670] [ENSMUST00000100194] [ENSMUST00000113377] [ENSMUST00000129193] [ENSMUST00000139494]
AlphaFold Q921M4
Predicted Effect probably benign
Transcript: ENSMUST00000081670
SMART Domains Protein: ENSMUSP00000080374
Gene: ENSMUSG00000002546

DomainStartEndE-ValueType
low complexity region 33 39 N/A INTRINSIC
coiled coil region 105 173 N/A INTRINSIC
low complexity region 189 202 N/A INTRINSIC
low complexity region 301 313 N/A INTRINSIC
Pfam:GOLGA2L5 337 955 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000100194
AA Change: D80N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000097768
Gene: ENSMUSG00000002546
AA Change: D80N

DomainStartEndE-ValueType
low complexity region 3 11 N/A INTRINSIC
low complexity region 45 51 N/A INTRINSIC
low complexity region 98 113 N/A INTRINSIC
coiled coil region 176 244 N/A INTRINSIC
low complexity region 260 273 N/A INTRINSIC
low complexity region 372 384 N/A INTRINSIC
Pfam:GOLGA2L5 408 1026 2.1e-299 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113377
SMART Domains Protein: ENSMUSP00000109004
Gene: ENSMUSG00000002546

DomainStartEndE-ValueType
low complexity region 3 11 N/A INTRINSIC
low complexity region 45 51 N/A INTRINSIC
low complexity region 71 86 N/A INTRINSIC
coiled coil region 149 217 N/A INTRINSIC
low complexity region 233 246 N/A INTRINSIC
low complexity region 345 357 N/A INTRINSIC
Pfam:GOLGA2L5 381 999 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129193
SMART Domains Protein: ENSMUSP00000115003
Gene: ENSMUSG00000002546

DomainStartEndE-ValueType
low complexity region 31 37 N/A INTRINSIC
low complexity region 57 72 N/A INTRINSIC
coiled coil region 136 176 N/A INTRINSIC
low complexity region 192 205 N/A INTRINSIC
coiled coil region 226 282 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000131712
SMART Domains Protein: ENSMUSP00000114169
Gene: ENSMUSG00000002546

DomainStartEndE-ValueType
low complexity region 33 39 N/A INTRINSIC
coiled coil region 106 146 N/A INTRINSIC
low complexity region 162 175 N/A INTRINSIC
coiled coil region 196 331 N/A INTRINSIC
Predicted Effect
SMART Domains Protein: ENSMUSP00000117476
Gene: ENSMUSG00000002546
AA Change: D90N

DomainStartEndE-ValueType
low complexity region 55 61 N/A INTRINSIC
low complexity region 108 123 N/A INTRINSIC
Predicted Effect
SMART Domains Protein: ENSMUSP00000121886
Gene: ENSMUSG00000002546
AA Change: D67N

DomainStartEndE-ValueType
low complexity region 33 39 N/A INTRINSIC
low complexity region 86 101 N/A INTRINSIC
coiled coil region 165 205 N/A INTRINSIC
low complexity region 221 234 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This encoded protein has been postulated to play roles in the stacking of Golgi cisternae and in vesicular transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of these variants has not been determined. [provided by RefSeq, Feb 2010]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adtrp G A 13: 41,969,636 (GRCm39) T89I possibly damaging Het
Aopep T A 13: 63,444,711 (GRCm39) Y94N possibly damaging Het
Apc T C 18: 34,445,999 (GRCm39) V947A probably damaging Het
Apob A C 12: 8,037,830 (GRCm39) K334N probably damaging Het
Camk2d A T 3: 126,564,448 (GRCm39) Q119L possibly damaging Het
Ccdc60 A T 5: 116,328,171 (GRCm39) F98I probably damaging Het
Cd47 A G 16: 49,688,304 (GRCm39) T22A probably benign Het
Crat A G 2: 30,300,035 (GRCm39) V115A probably benign Het
Csmd3 T C 15: 47,507,538 (GRCm39) M2992V probably benign Het
Dsg4 T A 18: 20,586,100 (GRCm39) N263K probably damaging Het
Eln A C 5: 134,738,964 (GRCm39) probably benign Het
Ep300 A G 15: 81,523,228 (GRCm39) E1284G unknown Het
Fam193a T A 5: 34,633,115 (GRCm39) M122K probably benign Het
Fcgr1 A T 3: 96,199,788 (GRCm39) W40R probably damaging Het
Gm3486 T A 14: 41,209,119 (GRCm39) Q84L probably damaging Het
Isg20 T C 7: 78,566,425 (GRCm39) Y125H probably benign Het
Kdf1 A G 4: 133,256,188 (GRCm39) I302V probably damaging Het
Kics2 T A 10: 121,575,960 (GRCm39) I27N probably benign Het
Krt33a T A 11: 99,903,209 (GRCm39) T278S possibly damaging Het
Lrp1b T A 2: 41,234,495 (GRCm39) Q1038L probably benign Het
Marchf6 G A 15: 31,482,976 (GRCm39) H476Y probably damaging Het
Myom1 A G 17: 71,343,448 (GRCm39) E215G possibly damaging Het
Or2aa1 A T 11: 59,480,312 (GRCm39) L201Q possibly damaging Het
Or2h15 T A 17: 38,441,489 (GRCm39) Q198L probably damaging Het
Or4c122 T C 2: 89,079,595 (GRCm39) T148A possibly damaging Het
Pate11 A G 9: 36,387,788 (GRCm39) I25V probably benign Het
Pdlim2 T A 14: 70,408,698 (GRCm39) T173S probably benign Het
Pitpnb T C 5: 111,494,372 (GRCm39) M74T probably benign Het
Pou2f2 C A 7: 24,814,981 (GRCm39) probably benign Het
Rab35 A C 5: 115,783,690 (GRCm39) probably null Het
Rasef A T 4: 73,645,844 (GRCm39) D508E probably benign Het
Rev3l T C 10: 39,682,838 (GRCm39) S319P probably benign Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rgl3 A G 9: 21,900,159 (GRCm39) S44P probably benign Het
Rnf214 C A 9: 45,778,797 (GRCm39) probably null Het
Rpsa T C 9: 119,958,317 (GRCm39) V76A possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,130 (GRCm39) probably benign Het
Senp7 T C 16: 55,978,973 (GRCm39) V529A probably benign Het
Siglecg C T 7: 43,058,320 (GRCm39) S69L probably benign Het
Sos1 G T 17: 80,705,842 (GRCm39) T1243K probably damaging Het
Tent5a T C 9: 85,208,784 (GRCm39) D13G possibly damaging Het
Tlcd3a A G 11: 76,096,244 (GRCm39) H124R probably damaging Het
Tmc2 A G 2: 130,106,084 (GRCm39) T872A probably benign Het
Tnfrsf8 A C 4: 145,023,511 (GRCm39) C107W probably damaging Het
Tnn T C 1: 159,937,986 (GRCm39) Y913C probably damaging Het
Ttn T C 2: 76,568,376 (GRCm39) T19179A probably damaging Het
Usp42 T A 5: 143,706,137 (GRCm39) K294N probably damaging Het
Vmn1r123 T A 7: 20,896,971 (GRCm39) C288S probably benign Het
Vmn1r29 T A 6: 58,285,191 (GRCm39) *304K probably null Het
Vmn2r1 T C 3: 63,997,334 (GRCm39) I330T probably damaging Het
Vmn2r16 A G 5: 109,511,997 (GRCm39) I735V probably benign Het
Vmn2r65 T C 7: 84,595,960 (GRCm39) I241M probably benign Het
Other mutations in Golga2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00531:Golga2 APN 2 32,195,226 (GRCm39) missense probably benign 0.01
IGL01561:Golga2 APN 2 32,186,689 (GRCm39) missense probably benign 0.00
IGL02396:Golga2 APN 2 32,188,656 (GRCm39) splice site probably benign
IGL02636:Golga2 APN 2 32,186,735 (GRCm39) critical splice donor site probably null
IGL02712:Golga2 APN 2 32,194,225 (GRCm39) missense probably damaging 1.00
IGL03172:Golga2 APN 2 32,182,168 (GRCm39) missense probably benign 0.04
IGL03193:Golga2 APN 2 32,195,020 (GRCm39) missense probably damaging 1.00
little UTSW 2 32,195,996 (GRCm39) nonsense probably null
R0050:Golga2 UTSW 2 32,182,139 (GRCm39) missense probably damaging 0.96
R0050:Golga2 UTSW 2 32,182,139 (GRCm39) missense probably damaging 0.96
R0265:Golga2 UTSW 2 32,194,964 (GRCm39) splice site probably null
R0440:Golga2 UTSW 2 32,192,945 (GRCm39) missense probably damaging 1.00
R0644:Golga2 UTSW 2 32,187,533 (GRCm39) missense probably damaging 1.00
R0825:Golga2 UTSW 2 32,194,803 (GRCm39) missense probably damaging 1.00
R1179:Golga2 UTSW 2 32,193,707 (GRCm39) missense possibly damaging 0.50
R1447:Golga2 UTSW 2 32,187,788 (GRCm39) missense possibly damaging 0.69
R1459:Golga2 UTSW 2 32,187,807 (GRCm39) splice site probably null
R1517:Golga2 UTSW 2 32,195,996 (GRCm39) nonsense probably null
R1522:Golga2 UTSW 2 32,192,216 (GRCm39) missense probably benign 0.01
R1599:Golga2 UTSW 2 32,193,185 (GRCm39) missense probably benign 0.00
R1702:Golga2 UTSW 2 32,189,287 (GRCm39) missense probably damaging 1.00
R1716:Golga2 UTSW 2 32,192,909 (GRCm39) missense probably damaging 1.00
R1777:Golga2 UTSW 2 32,195,482 (GRCm39) splice site probably null
R1781:Golga2 UTSW 2 32,196,588 (GRCm39) missense probably damaging 1.00
R2229:Golga2 UTSW 2 32,196,477 (GRCm39) missense probably benign 0.06
R2484:Golga2 UTSW 2 32,194,782 (GRCm39) missense probably benign 0.32
R2972:Golga2 UTSW 2 32,195,671 (GRCm39) missense probably benign 0.16
R3411:Golga2 UTSW 2 32,192,954 (GRCm39) missense probably damaging 0.98
R3851:Golga2 UTSW 2 32,195,623 (GRCm39) missense probably benign 0.30
R3852:Golga2 UTSW 2 32,195,623 (GRCm39) missense probably benign 0.30
R4130:Golga2 UTSW 2 32,178,178 (GRCm39) missense probably benign 0.07
R4783:Golga2 UTSW 2 32,187,168 (GRCm39) missense probably damaging 1.00
R4784:Golga2 UTSW 2 32,187,168 (GRCm39) missense probably damaging 1.00
R4785:Golga2 UTSW 2 32,187,168 (GRCm39) missense probably damaging 1.00
R4808:Golga2 UTSW 2 32,193,226 (GRCm39) missense probably benign 0.00
R5103:Golga2 UTSW 2 32,193,758 (GRCm39) missense probably benign 0.09
R5261:Golga2 UTSW 2 32,194,166 (GRCm39) missense probably benign 0.02
R5315:Golga2 UTSW 2 32,193,773 (GRCm39) missense probably damaging 1.00
R5508:Golga2 UTSW 2 32,178,199 (GRCm39) nonsense probably null
R5627:Golga2 UTSW 2 32,196,059 (GRCm39) nonsense probably null
R5921:Golga2 UTSW 2 32,187,767 (GRCm39) missense probably benign 0.00
R6678:Golga2 UTSW 2 32,189,072 (GRCm39) missense probably damaging 0.99
R7365:Golga2 UTSW 2 32,193,013 (GRCm39) nonsense probably null
R7390:Golga2 UTSW 2 32,178,202 (GRCm39) missense
R7395:Golga2 UTSW 2 32,195,599 (GRCm39) missense possibly damaging 0.94
R7555:Golga2 UTSW 2 32,178,178 (GRCm39) missense probably benign 0.07
R7640:Golga2 UTSW 2 32,196,251 (GRCm39) missense probably benign
R8219:Golga2 UTSW 2 32,196,492 (GRCm39) missense probably damaging 1.00
R9071:Golga2 UTSW 2 32,178,364 (GRCm39) missense probably damaging 1.00
R9127:Golga2 UTSW 2 32,196,079 (GRCm39) missense
R9214:Golga2 UTSW 2 32,195,822 (GRCm39) missense probably damaging 1.00
R9537:Golga2 UTSW 2 32,178,313 (GRCm39) unclassified probably benign
R9643:Golga2 UTSW 2 32,193,874 (GRCm39) missense probably damaging 0.97
R9716:Golga2 UTSW 2 32,189,287 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTGCTCCTGAGTGTTCCATC -3'
(R):5'- GCTGATGGTTAACTGAGGCAAC -3'

Sequencing Primer
(F):5'- GAGTGTTCCATCTCCCTGACTG -3'
(R):5'- TTAACTGAGGCAACACAAAGTG -3'
Posted On 2021-01-18