Incidental Mutation 'R5627:Golga2'
ID 441865
Institutional Source Beutler Lab
Gene Symbol Golga2
Ensembl Gene ENSMUSG00000002546
Gene Name golgin A2
Synonyms GM130
MMRRC Submission 043166-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.846) question?
Stock # R5627 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 32178299-32197925 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 32196059 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 864 (Y864*)
Ref Sequence ENSEMBL: ENSMUSP00000109004 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078352] [ENSMUST00000081670] [ENSMUST00000091089] [ENSMUST00000100194] [ENSMUST00000113350] [ENSMUST00000113352] [ENSMUST00000113365] [ENSMUST00000113377] [ENSMUST00000129193] [ENSMUST00000202578] [ENSMUST00000201440] [ENSMUST00000201494] [ENSMUST00000139624] [ENSMUST00000201433] [ENSMUST00000129156]
AlphaFold Q921M4
Predicted Effect probably benign
Transcript: ENSMUST00000078352
SMART Domains Protein: ENSMUSP00000077461
Gene: ENSMUSG00000026825

DomainStartEndE-ValueType
DYNc 6 245 1.38e-177 SMART
PH 520 627 2.7e-10 SMART
GED 654 745 9.51e-32 SMART
low complexity region 747 761 N/A INTRINSIC
low complexity region 783 816 N/A INTRINSIC
low complexity region 819 830 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000081670
AA Change: Y821*
SMART Domains Protein: ENSMUSP00000080374
Gene: ENSMUSG00000002546
AA Change: Y821*

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: ENSMUST00000091089
SMART Domains Protein: ENSMUSP00000088618
Gene: ENSMUSG00000026825

DomainStartEndE-ValueType
DYNc 6 245 1.38e-177 SMART
PH 516 623 2.7e-10 SMART
GED 650 741 9.51e-32 SMART
low complexity region 743 757 N/A INTRINSIC
low complexity region 779 812 N/A INTRINSIC
low complexity region 815 826 N/A INTRINSIC
low complexity region 845 860 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000100194
AA Change: Y891*
SMART Domains Protein: ENSMUSP00000097768
Gene: ENSMUSG00000002546
AA Change: Y891*

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: ENSMUST00000113350
SMART Domains Protein: ENSMUSP00000108977
Gene: ENSMUSG00000026825

DomainStartEndE-ValueType
DYNc 6 245 1.38e-177 SMART
PH 520 627 2.7e-10 SMART
GED 654 745 9.51e-32 SMART
low complexity region 747 761 N/A INTRINSIC
low complexity region 783 816 N/A INTRINSIC
low complexity region 819 830 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113352
SMART Domains Protein: ENSMUSP00000108979
Gene: ENSMUSG00000026825

DomainStartEndE-ValueType
DYNc 6 245 1.38e-177 SMART
PH 520 627 2.7e-10 SMART
GED 654 745 9.51e-32 SMART
low complexity region 747 761 N/A INTRINSIC
low complexity region 783 816 N/A INTRINSIC
low complexity region 819 830 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113365
SMART Domains Protein: ENSMUSP00000108992
Gene: ENSMUSG00000026825

DomainStartEndE-ValueType
DYNc 6 245 1.38e-177 SMART
PH 520 627 2.7e-10 SMART
GED 654 745 9.51e-32 SMART
low complexity region 747 761 N/A INTRINSIC
low complexity region 783 816 N/A INTRINSIC
low complexity region 819 830 N/A INTRINSIC
low complexity region 851 861 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000113377
AA Change: Y864*
SMART Domains Protein: ENSMUSP00000109004
Gene: ENSMUSG00000002546
AA Change: Y864*

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: ENSMUST00000146544
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145885
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: ENSMUST00000202578
SMART Domains Protein: ENSMUSP00000143955
Gene: ENSMUSG00000026825

DomainStartEndE-ValueType
DYNc 6 245 1.38e-177 SMART
PH 520 627 2.7e-10 SMART
GED 654 745 9.51e-32 SMART
low complexity region 747 761 N/A INTRINSIC
low complexity region 783 816 N/A INTRINSIC
low complexity region 819 830 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000139291
SMART Domains Protein: ENSMUSP00000115523
Gene: ENSMUSG00000026825

DomainStartEndE-ValueType
Pfam:GED 1 43 3.3e-7 PFAM
low complexity region 45 59 N/A INTRINSIC
low complexity region 81 114 N/A INTRINSIC
low complexity region 117 128 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000155269
SMART Domains Protein: ENSMUSP00000116054
Gene: ENSMUSG00000026825

DomainStartEndE-ValueType
GED 1 53 1.63e-1 SMART
low complexity region 55 69 N/A INTRINSIC
low complexity region 91 124 N/A INTRINSIC
low complexity region 127 138 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: ENSMUST00000201440
SMART Domains Protein: ENSMUSP00000144309
Gene: ENSMUSG00000026825

DomainStartEndE-ValueType
Pfam:GED 1 41 5.9e-7 PFAM
low complexity region 43 57 N/A INTRINSIC
low complexity region 66 85 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000201494
SMART Domains Protein: ENSMUSP00000144145
Gene: ENSMUSG00000026825

DomainStartEndE-ValueType
DYNc 6 245 6.9e-180 SMART
Pfam:Dynamin_M 413 473 2.1e-14 PFAM
PH 491 598 1.2e-12 SMART
GED 625 716 6.1e-34 SMART
low complexity region 718 732 N/A INTRINSIC
low complexity region 754 787 N/A INTRINSIC
low complexity region 790 801 N/A INTRINSIC
low complexity region 822 832 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000139624
SMART Domains Protein: ENSMUSP00000122679
Gene: ENSMUSG00000026825

DomainStartEndE-ValueType
DYNc 6 245 1.38e-177 SMART
PH 520 627 2.7e-10 SMART
GED 654 745 9.51e-32 SMART
low complexity region 747 761 N/A INTRINSIC
low complexity region 783 816 N/A INTRINSIC
low complexity region 819 830 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000201433
SMART Domains Protein: ENSMUSP00000144264
Gene: ENSMUSG00000026825

DomainStartEndE-ValueType
DYNc 6 245 1.38e-177 SMART
PH 520 627 2.7e-10 SMART
GED 654 745 9.51e-32 SMART
low complexity region 747 761 N/A INTRINSIC
low complexity region 783 816 N/A INTRINSIC
low complexity region 819 830 N/A INTRINSIC
low complexity region 851 861 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000129156
SMART Domains Protein: ENSMUSP00000118914
Gene: ENSMUSG00000026825

DomainStartEndE-ValueType
PH 1 96 2.75e-2 SMART
GED 123 214 9.51e-32 SMART
low complexity region 216 230 N/A INTRINSIC
low complexity region 239 258 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.8%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 C T 5: 24,605,137 (GRCm39) R108C possibly damaging Het
Abl1 T C 2: 31,690,595 (GRCm39) W705R probably benign Het
Alpk1 A T 3: 127,474,296 (GRCm39) V569D probably damaging Het
Ano3 T C 2: 110,587,298 (GRCm39) N425S possibly damaging Het
Atad2b A G 12: 4,967,911 (GRCm39) D68G probably benign Het
Cacna1e A G 1: 154,511,604 (GRCm39) I173T probably damaging Het
Cenpe G T 3: 134,941,234 (GRCm39) L716F possibly damaging Het
Cep85 A T 4: 133,861,408 (GRCm39) L622Q probably damaging Het
Cep97 A G 16: 55,745,330 (GRCm39) probably null Het
Ces1f A T 8: 94,006,327 (GRCm39) M1K probably null Het
Chil5 A G 3: 105,926,951 (GRCm39) L228P probably damaging Het
Col22a1 T C 15: 71,853,767 (GRCm39) E265G probably damaging Het
Col3a1 T C 1: 45,370,720 (GRCm39) probably benign Het
Cyp3a59 T A 5: 146,049,664 (GRCm39) D497E probably benign Het
Egfem1 G T 3: 29,722,548 (GRCm39) E175* probably null Het
Eif4g2 A G 7: 110,673,446 (GRCm39) Y778H probably benign Het
Fam98b T C 2: 117,098,414 (GRCm39) C295R probably damaging Het
Gm3149 A T 14: 15,702,790 (GRCm39) I246L probably benign Het
Gm5134 A G 10: 75,821,942 (GRCm39) T259A possibly damaging Het
Gm5150 A G 3: 16,017,564 (GRCm39) Y236H probably damaging Het
Inpp4a A G 1: 37,406,854 (GRCm39) D199G probably damaging Het
Inpp4b T C 8: 82,470,445 (GRCm39) probably benign Het
Kremen1 T C 11: 5,149,709 (GRCm39) T321A probably benign Het
Map3k3 A G 11: 106,039,428 (GRCm39) S250G probably benign Het
Mtmr10 A T 7: 63,986,500 (GRCm39) K526M probably damaging Het
Nbea C T 3: 55,899,766 (GRCm39) C1461Y probably damaging Het
Nckap5l A T 15: 99,325,587 (GRCm39) N305K possibly damaging Het
Nup210l A T 3: 90,051,557 (GRCm39) Y567F probably damaging Het
Or11g26 A G 14: 50,753,257 (GRCm39) M199V probably benign Het
Or14c39 G T 7: 86,344,347 (GRCm39) V228F possibly damaging Het
Or4a70 A T 2: 89,324,388 (GRCm39) N89K probably benign Het
Or56b2 G A 7: 104,337,377 (GRCm39) V52M probably benign Het
Or5b96 T A 19: 12,867,663 (GRCm39) I93F probably damaging Het
Or5g25 T A 2: 85,477,991 (GRCm39) I225F probably damaging Het
Rcc1 T C 4: 132,065,454 (GRCm39) R57G probably damaging Het
Rfx7 C T 9: 72,440,066 (GRCm39) probably benign Het
Saraf T A 8: 34,621,799 (GRCm39) M1K probably null Het
Serpinb9d C T 13: 33,386,676 (GRCm39) T248I probably damaging Het
Slc38a6 A G 12: 73,390,457 (GRCm39) I254M possibly damaging Het
Slc6a5 A G 7: 49,561,522 (GRCm39) D18G possibly damaging Het
Supt20 A G 3: 54,620,611 (GRCm39) D389G possibly damaging Het
Tecpr2 T A 12: 110,907,916 (GRCm39) I1001K probably damaging Het
Vcan CAAAA CAA 13: 89,839,254 (GRCm39) probably null Het
Wdr36 T A 18: 32,994,691 (GRCm39) D717E possibly damaging Het
Zfp318 T C 17: 46,724,062 (GRCm39) S2022P probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- CTGGAGAGACAGACACCATTGG -3'
(R):5'- TCACCAGGGTTCTGAGAGAC -3'

Sequencing Primer
(F):5'- ACCATTGGTGAGGTGGAGCC -3'
(R):5'- AGGAACTTGCCCTGCCATTC -3'
Posted On 2016-11-08