Incidental Mutation 'IGL01561:Golga2'
ID 90835
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Golga2
Ensembl Gene ENSMUSG00000002546
Gene Name golgin A2
Synonyms GM130
Accession Numbers
Essential gene? Probably essential (E-score: 0.875) question?
Stock # IGL01561
Quality Score
Status
Chromosome 2
Chromosomal Location 32178299-32197925 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32186689 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 73 (M73V)
Ref Sequence ENSEMBL: ENSMUSP00000115003 (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 benign
Transcript: ENSMUST00000100194
AA Change: M114V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097768
Gene: ENSMUSG00000002546
AA Change: M114V

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
AA Change: M87V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109004
Gene: ENSMUSG00000002546
AA Change: M87V

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 noncoding transcript
Transcript: ENSMUST00000126276
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127276
Predicted Effect probably benign
Transcript: ENSMUST00000129193
AA Change: M73V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000115003
Gene: ENSMUSG00000002546
AA Change: M73V

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 unknown
Transcript: ENSMUST00000147707
AA Change: M101V
SMART Domains Protein: ENSMUSP00000121886
Gene: ENSMUSG00000002546
AA Change: M101V

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
Predicted Effect unknown
Transcript: ENSMUST00000139494
AA Change: M124V
SMART Domains Protein: ENSMUSP00000117476
Gene: ENSMUSG00000002546
AA Change: M124V

DomainStartEndE-ValueType
low complexity region 55 61 N/A INTRINSIC
low complexity region 108 123 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146544
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149141
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
Coding Region Coverage
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp1 G A 11: 5,821,349 (GRCm39) D583N probably damaging Het
Aoah G T 13: 21,189,264 (GRCm39) D496Y probably damaging Het
Aoah T C 13: 21,089,905 (GRCm39) probably benign Het
Cdh10 G T 15: 19,000,012 (GRCm39) A486S possibly damaging Het
Cers2 A T 3: 95,229,472 (GRCm39) probably null Het
Clec4a4 T A 6: 123,000,975 (GRCm39) C229* probably null Het
Col15a1 T C 4: 47,312,118 (GRCm39) V1311A possibly damaging Het
Fpr-rs3 C T 17: 20,844,859 (GRCm39) G94D probably damaging Het
Fsd1 T A 17: 56,302,363 (GRCm39) M269K probably benign Het
Gusb A T 5: 130,026,927 (GRCm39) V388E probably damaging Het
Heg1 A G 16: 33,587,038 (GRCm39) N1267S probably benign Het
Htra4 A C 8: 25,523,587 (GRCm39) I326S probably damaging Het
Klhl33 T C 14: 51,128,888 (GRCm39) I780M probably benign Het
Mertk T C 2: 128,578,556 (GRCm39) S181P probably damaging Het
Mpdz T C 4: 81,202,851 (GRCm39) H1882R probably damaging Het
Muc13 A G 16: 33,626,411 (GRCm39) K317E possibly damaging Het
Nek3 A G 8: 22,619,472 (GRCm39) F440S probably damaging Het
Nrxn2 G A 19: 6,540,172 (GRCm39) R831H probably damaging Het
Or10w1 T C 19: 13,632,269 (GRCm39) F159L probably benign Het
Or1q1 T A 2: 36,886,955 (GRCm39) F44L probably benign Het
Or7e173 T C 9: 19,938,818 (GRCm39) M139V probably benign Het
Palmd A T 3: 116,717,742 (GRCm39) S252T probably damaging Het
Piezo2 C A 18: 63,257,685 (GRCm39) M344I probably benign Het
Pygo1 T A 9: 72,852,570 (GRCm39) N252K probably damaging Het
Rhobtb1 A G 10: 69,106,221 (GRCm39) Q262R probably benign Het
Xpo1 T C 11: 23,232,706 (GRCm39) Y409H possibly damaging Het
Zan T A 5: 137,462,128 (GRCm39) E1017V unknown Het
Other mutations in Golga2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00531:Golga2 APN 2 32,195,226 (GRCm39) missense probably benign 0.01
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
R8554:Golga2 UTSW 2 32,183,357 (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
Posted On 2013-12-09