Incidental Mutation 'R7555:Golga2'
ID 584665
Institutional Source Beutler Lab
Gene Symbol Golga2
Ensembl Gene ENSMUSG00000002546
Gene Name golgi autoantigen, golgin subfamily a, 2
Synonyms GM130
MMRRC Submission 045623-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.855) question?
Stock # R7555 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 32287384-32307921 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 32288166 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 29 (R29H)
Ref Sequence ENSEMBL: ENSMUSP00000117476 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050410] [ENSMUST00000081670] [ENSMUST00000100194] [ENSMUST00000113377] [ENSMUST00000113397] [ENSMUST00000113400] [ENSMUST00000129193] [ENSMUST00000139494] [ENSMUST00000183946] [ENSMUST00000140406]
AlphaFold Q921M4
Predicted Effect probably benign
Transcript: ENSMUST00000050410
SMART Domains Protein: ENSMUSP00000057512
Gene: ENSMUSG00000044627

DomainStartEndE-ValueType
Pfam:Swi5 9 89 7.5e-28 PFAM
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 benign
Transcript: ENSMUST00000100194
SMART Domains Protein: ENSMUSP00000097768
Gene: ENSMUSG00000002546

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: ENSMUST00000113397
SMART Domains Protein: ENSMUSP00000109024
Gene: ENSMUSG00000044627

DomainStartEndE-ValueType
Pfam:Swi5 1 59 9.9e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113400
SMART Domains Protein: ENSMUSP00000109027
Gene: ENSMUSG00000044627

DomainStartEndE-ValueType
Pfam:Swi5 45 120 1.5e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127131
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127276
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 probably benign
Transcript: ENSMUST00000139494
AA Change: R29H

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000117476
Gene: ENSMUSG00000002546
AA Change: R29H

DomainStartEndE-ValueType
low complexity region 55 61 N/A INTRINSIC
low complexity region 108 123 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000183946
SMART Domains Protein: ENSMUSP00000139299
Gene: ENSMUSG00000044627

DomainStartEndE-ValueType
Pfam:Swi5 9 89 7.5e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140406
SMART Domains Protein: ENSMUSP00000139369
Gene: ENSMUSG00000044627

DomainStartEndE-ValueType
Pfam:Swi5 47 120 1.3e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147707
SMART Domains Protein: ENSMUSP00000121886
Gene: ENSMUSG00000002546

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: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (83/83)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430007A20Rik T A 4: 144,522,354 (GRCm38) I97N probably damaging Het
Acvrl1 A G 15: 101,143,473 (GRCm38) H502R probably benign Het
Adgrf4 T C 17: 42,672,603 (GRCm38) S63G probably benign Het
Agbl2 C A 2: 90,791,555 (GRCm38) L129I probably damaging Het
Ankrd11 C A 8: 122,887,406 (GRCm38) A2542S probably damaging Het
Armc9 A G 1: 86,275,678 (GRCm38) K818R probably damaging Het
Arsj T A 3: 126,438,236 (GRCm38) C210* probably null Het
Aspscr1 C T 11: 120,673,100 (GRCm38) A11V unknown Het
Bicc1 G T 10: 70,956,291 (GRCm38) Q296K possibly damaging Het
Borcs5 A C 6: 134,685,979 (GRCm38) Q73P probably benign Het
Capn15 G T 17: 25,963,432 (GRCm38) D567E probably damaging Het
Catsperg1 A C 7: 29,189,814 (GRCm38) I866S probably damaging Het
Ccdc27 G T 4: 154,041,817 (GRCm38) H72N unknown Het
Ccser2 A T 14: 36,879,500 (GRCm38) M309K possibly damaging Het
Cd1d2 A G 3: 86,987,101 (GRCm38) S59G probably benign Het
Chml G A 1: 175,687,890 (GRCm38) P155L probably benign Het
Csmd2 C T 4: 128,452,458 (GRCm38) P1504S Het
Dcbld2 A G 16: 58,448,718 (GRCm38) probably null Het
Ddx21 C T 10: 62,598,243 (GRCm38) E246K probably benign Het
Dhx29 C T 13: 112,927,642 (GRCm38) probably benign Het
Dis3l A C 9: 64,311,937 (GRCm38) Y570* probably null Het
Dnah14 T A 1: 181,770,054 (GRCm38) Y3623N probably benign Het
Dock8 A G 19: 25,175,400 (GRCm38) D1610G probably damaging Het
Dync1h1 T C 12: 110,630,625 (GRCm38) S1669P probably benign Het
Eif2ak4 T A 2: 118,417,283 (GRCm38) I267N possibly damaging Het
Ern2 A T 7: 122,170,241 (GRCm38) V854E probably damaging Het
Fuca2 G A 10: 13,507,430 (GRCm38) probably null Het
Gbp10 G A 5: 105,236,149 (GRCm38) probably benign Het
Gm1110 T A 9: 26,893,628 (GRCm38) T380S probably benign Het
Gm13128 T C 4: 144,332,741 (GRCm38) F341L probably benign Het
Gm5788 A C 12: 87,494,735 (GRCm38) K5N unknown Het
Gm6460 A T 5: 11,597,612 (GRCm38) N106Y probably damaging Het
Grik5 T C 7: 25,060,597 (GRCm38) E259G probably benign Het
Grm3 T C 5: 9,570,000 (GRCm38) T415A probably benign Het
Gtf3c1 A G 7: 125,645,670 (GRCm38) Y1731H probably damaging Het
Hectd2 T C 19: 36,612,403 (GRCm38) C643R probably damaging Het
Hgfac T C 5: 35,042,628 (GRCm38) S118P probably damaging Het
Hmcn1 A G 1: 150,604,874 (GRCm38) V4517A probably benign Het
Hnrnpc A T 14: 52,075,153 (GRCm38) L290* probably null Het
Homer3 A G 8: 70,289,413 (GRCm38) E108G probably damaging Het
Hsd17b3 G T 13: 64,072,002 (GRCm38) S141R probably benign Het
Hspa12b C T 2: 131,138,476 (GRCm38) T105I probably damaging Het
Ifi202b T C 1: 173,972,221 (GRCm38) I231M probably damaging Het
Inhba T A 13: 16,017,637 (GRCm38) N114K probably benign Het
Kmt2b C A 7: 30,569,410 (GRCm38) M2631I possibly damaging Het
Loxhd1 C T 18: 77,395,365 (GRCm38) T1214I probably damaging Het
Lrp1 G T 10: 127,546,862 (GRCm38) N3683K probably damaging Het
Lrrc8e A G 8: 4,234,363 (GRCm38) K196R probably benign Het
Lrrn3 A T 12: 41,452,911 (GRCm38) M469K probably benign Het
Mafb T C 2: 160,365,829 (GRCm38) E283G probably damaging Het
Mapt C A 11: 104,298,702 (GRCm38) P182Q probably benign Het
Mmp14 G T 14: 54,437,742 (GRCm38) R277L possibly damaging Het
Mucl2 T A 15: 103,897,445 (GRCm38) N82I probably benign Het
Nsun6 T A 2: 14,996,339 (GRCm38) T469S possibly damaging Het
Olfr1076 A C 2: 86,509,347 (GRCm38) D296A probably damaging Het
Olfr1342 T C 4: 118,689,642 (GRCm38) D270G possibly damaging Het
Olfr507 G C 7: 108,622,726 (GRCm38) A305P probably damaging Het
Osbpl5 A T 7: 143,694,933 (GRCm38) F631I possibly damaging Het
Otud3 G T 4: 138,901,885 (GRCm38) D190E possibly damaging Het
Pcdhb6 A T 18: 37,335,279 (GRCm38) I418F possibly damaging Het
Per1 G A 11: 69,106,513 (GRCm38) R838H probably damaging Het
Per2 G A 1: 91,435,135 (GRCm38) P395S probably damaging Het
Per3 G A 4: 151,018,058 (GRCm38) Q583* probably null Het
Pkhd1l1 A T 15: 44,550,761 (GRCm38) H2808L possibly damaging Het
Ppfia2 A G 10: 106,927,826 (GRCm38) T1227A probably benign Het
Psg17 C T 7: 18,817,094 (GRCm38) D279N probably benign Het
Rnf167 A G 11: 70,650,797 (GRCm38) D235G probably benign Het
Rxfp3 A G 15: 11,036,276 (GRCm38) S337P probably damaging Het
Sall1 T C 8: 89,033,158 (GRCm38) D106G possibly damaging Het
Sema4f A G 6: 82,914,056 (GRCm38) V590A probably benign Het
Setd1b A G 5: 123,157,757 (GRCm38) D1102G unknown Het
Six2 C A 17: 85,687,707 (GRCm38) K82N probably damaging Het
Snx29 T C 16: 11,400,942 (GRCm38) M214T probably benign Het
Son T C 16: 91,658,922 (GRCm38) L1519P probably damaging Het
Spin1 C T 13: 51,149,049 (GRCm38) S226L probably benign Het
Stxbp5l T C 16: 37,323,603 (GRCm38) D131G probably damaging Het
Svep1 T C 4: 58,069,422 (GRCm38) Y2788C probably damaging Het
Tbl3 C A 17: 24,701,976 (GRCm38) probably null Het
Themis A T 10: 28,781,702 (GRCm38) I242L possibly damaging Het
Tmem203 G A 2: 25,255,730 (GRCm38) V21M probably benign Het
Trp53inp1 T C 4: 11,169,750 (GRCm38) C171R probably benign Het
Tsg101 A G 7: 46,913,411 (GRCm38) Y32H probably damaging Het
Tyw1 A G 5: 130,274,706 (GRCm38) D305G probably damaging Het
Vmn1r40 A T 6: 89,715,044 (GRCm38) Y281F probably damaging Het
Vmn2r105 T A 17: 20,227,675 (GRCm38) T296S probably damaging Het
Vmn2r13 T C 5: 109,171,691 (GRCm38) probably null Het
Zfp933 A G 4: 147,826,132 (GRCm38) F336L probably damaging Het
Other mutations in Golga2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00531:Golga2 APN 2 32,305,214 (GRCm38) missense probably benign 0.01
IGL01561:Golga2 APN 2 32,296,677 (GRCm38) missense probably benign 0.00
IGL02396:Golga2 APN 2 32,298,644 (GRCm38) splice site probably benign
IGL02636:Golga2 APN 2 32,296,723 (GRCm38) critical splice donor site probably null
IGL02712:Golga2 APN 2 32,304,213 (GRCm38) missense probably damaging 1.00
IGL03172:Golga2 APN 2 32,292,156 (GRCm38) missense probably benign 0.04
IGL03193:Golga2 APN 2 32,305,008 (GRCm38) missense probably damaging 1.00
little UTSW 2 32,305,984 (GRCm38) nonsense probably null
R0050:Golga2 UTSW 2 32,292,127 (GRCm38) missense probably damaging 0.96
R0050:Golga2 UTSW 2 32,292,127 (GRCm38) missense probably damaging 0.96
R0265:Golga2 UTSW 2 32,304,952 (GRCm38) splice site probably null
R0440:Golga2 UTSW 2 32,302,933 (GRCm38) missense probably damaging 1.00
R0644:Golga2 UTSW 2 32,297,521 (GRCm38) missense probably damaging 1.00
R0825:Golga2 UTSW 2 32,304,791 (GRCm38) missense probably damaging 1.00
R1179:Golga2 UTSW 2 32,303,695 (GRCm38) missense possibly damaging 0.50
R1447:Golga2 UTSW 2 32,297,776 (GRCm38) missense possibly damaging 0.69
R1459:Golga2 UTSW 2 32,297,795 (GRCm38) splice site probably null
R1517:Golga2 UTSW 2 32,305,984 (GRCm38) nonsense probably null
R1522:Golga2 UTSW 2 32,302,204 (GRCm38) missense probably benign 0.01
R1599:Golga2 UTSW 2 32,303,173 (GRCm38) missense probably benign 0.00
R1702:Golga2 UTSW 2 32,299,275 (GRCm38) missense probably damaging 1.00
R1716:Golga2 UTSW 2 32,302,897 (GRCm38) missense probably damaging 1.00
R1777:Golga2 UTSW 2 32,305,470 (GRCm38) splice site probably null
R1781:Golga2 UTSW 2 32,306,576 (GRCm38) missense probably damaging 1.00
R2229:Golga2 UTSW 2 32,306,465 (GRCm38) missense probably benign 0.06
R2484:Golga2 UTSW 2 32,304,770 (GRCm38) missense probably benign 0.32
R2972:Golga2 UTSW 2 32,305,659 (GRCm38) missense probably benign 0.16
R3411:Golga2 UTSW 2 32,302,942 (GRCm38) missense probably damaging 0.98
R3851:Golga2 UTSW 2 32,305,611 (GRCm38) missense probably benign 0.30
R3852:Golga2 UTSW 2 32,305,611 (GRCm38) missense probably benign 0.30
R4130:Golga2 UTSW 2 32,288,166 (GRCm38) missense probably benign 0.07
R4783:Golga2 UTSW 2 32,297,156 (GRCm38) missense probably damaging 1.00
R4784:Golga2 UTSW 2 32,297,156 (GRCm38) missense probably damaging 1.00
R4785:Golga2 UTSW 2 32,297,156 (GRCm38) missense probably damaging 1.00
R4808:Golga2 UTSW 2 32,303,214 (GRCm38) missense probably benign 0.00
R5103:Golga2 UTSW 2 32,303,746 (GRCm38) missense probably benign 0.09
R5261:Golga2 UTSW 2 32,304,154 (GRCm38) missense probably benign 0.02
R5315:Golga2 UTSW 2 32,303,761 (GRCm38) missense probably damaging 1.00
R5508:Golga2 UTSW 2 32,288,187 (GRCm38) nonsense probably null
R5627:Golga2 UTSW 2 32,306,047 (GRCm38) nonsense probably null
R5921:Golga2 UTSW 2 32,297,755 (GRCm38) missense probably benign 0.00
R6678:Golga2 UTSW 2 32,299,060 (GRCm38) missense probably damaging 0.99
R7365:Golga2 UTSW 2 32,303,001 (GRCm38) nonsense probably null
R7390:Golga2 UTSW 2 32,288,190 (GRCm38) missense
R7395:Golga2 UTSW 2 32,305,587 (GRCm38) missense possibly damaging 0.94
R7640:Golga2 UTSW 2 32,306,239 (GRCm38) missense probably benign
R8219:Golga2 UTSW 2 32,306,480 (GRCm38) missense probably damaging 1.00
R8554:Golga2 UTSW 2 32,293,345 (GRCm38) missense probably damaging 1.00
R9071:Golga2 UTSW 2 32,288,352 (GRCm38) missense probably damaging 1.00
R9127:Golga2 UTSW 2 32,306,067 (GRCm38) missense
R9214:Golga2 UTSW 2 32,305,810 (GRCm38) missense probably damaging 1.00
R9537:Golga2 UTSW 2 32,288,301 (GRCm38) unclassified probably benign
R9643:Golga2 UTSW 2 32,303,862 (GRCm38) missense probably damaging 0.97
R9716:Golga2 UTSW 2 32,299,275 (GRCm38) missense probably damaging 1.00
Predicted Primers
Posted On 2019-10-17