Incidental Mutation 'R0659:Golga5'
ID 61797
Institutional Source Beutler Lab
Gene Symbol Golga5
Ensembl Gene ENSMUSG00000021192
Gene Name golgin A5
Synonyms Ret-II
MMRRC Submission 038844-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0659 (G1)
Quality Score 106
Status Validated
Chromosome 12
Chromosomal Location 102435394-102464166 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 102442467 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 269 (V269F)
Ref Sequence ENSEMBL: ENSMUSP00000137305 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021609] [ENSMUST00000179218]
AlphaFold Q9QYE6
Predicted Effect possibly damaging
Transcript: ENSMUST00000021609
AA Change: V269F

PolyPhen 2 Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000021609
Gene: ENSMUSG00000021192
AA Change: V269F

DomainStartEndE-ValueType
low complexity region 148 167 N/A INTRINSIC
low complexity region 193 213 N/A INTRINSIC
Pfam:Golgin_A5 233 709 1.1e-172 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000179218
AA Change: V269F

PolyPhen 2 Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000137305
Gene: ENSMUSG00000021192
AA Change: V269F

DomainStartEndE-ValueType
low complexity region 148 167 N/A INTRINSIC
low complexity region 193 213 N/A INTRINSIC
Pfam:Golgin_A5 233 709 1.1e-172 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 95.6%
Validation Efficiency 99% (72/73)
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 protein is a coiled-coil membrane protein that has been postulated to play a role in vesicle tethering and docking. Translocations involving this gene and the ret proto-oncogene have been found in tumor tissues; the chimeric sequences have been designated RET-II and PTC5. A pseudogene of this gene is located on the short arm of chromosome 5. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous knockout does not result in an obvious phenotype and does not affect Golgi apparatus morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 A G 18: 59,140,565 (GRCm39) probably benign Het
Ahnak A G 19: 8,992,366 (GRCm39) H4550R possibly damaging Het
Anxa6 A G 11: 54,874,173 (GRCm39) V591A probably damaging Het
Apol7c A G 15: 77,410,473 (GRCm39) S158P probably damaging Het
Asxl1 T A 2: 153,242,644 (GRCm39) S1065T possibly damaging Het
Cacna2d4 A G 6: 119,322,067 (GRCm39) probably benign Het
Cd109 T C 9: 78,587,452 (GRCm39) probably benign Het
Cep78 C T 19: 15,933,554 (GRCm39) V675M probably damaging Het
Ces4a T C 8: 105,871,554 (GRCm39) probably benign Het
Chpf A G 1: 75,454,367 (GRCm39) V137A probably damaging Het
Comp T C 8: 70,831,751 (GRCm39) S457P possibly damaging Het
Cth A G 3: 157,625,752 (GRCm39) probably benign Het
Cyp2a12 T C 7: 26,733,563 (GRCm39) L314P probably damaging Het
Ets1 C T 9: 32,649,589 (GRCm39) R309C probably damaging Het
Foxp2 T C 6: 15,254,278 (GRCm39) probably benign Het
Gm9875 T G 2: 13,562,995 (GRCm39) F108V unknown Het
Greb1 T C 12: 16,730,213 (GRCm39) Y1738C probably damaging Het
Grin2a G T 16: 9,810,336 (GRCm39) P21Q probably damaging Het
Hdac5 A T 11: 102,086,850 (GRCm39) V70E probably damaging Het
Hdac9 T C 12: 34,487,221 (GRCm39) Q60R probably damaging Het
Hsd17b3 T C 13: 64,221,750 (GRCm39) T92A possibly damaging Het
Itpk1 C T 12: 102,572,337 (GRCm39) probably benign Het
Lin28a T C 4: 133,735,410 (GRCm39) probably benign Het
Mapk6 T C 9: 75,305,244 (GRCm39) S58G probably damaging Het
Mmp21 G A 7: 133,279,396 (GRCm39) probably benign Het
Mroh2a C A 1: 88,170,142 (GRCm39) A685D possibly damaging Het
Mroh2a G A 1: 88,178,064 (GRCm39) D1053N probably damaging Het
Msh3 T C 13: 92,481,604 (GRCm39) N303D possibly damaging Het
Mto1 C T 9: 78,378,072 (GRCm39) T638M probably damaging Het
Mto1 T A 9: 78,364,790 (GRCm39) I343N probably damaging Het
Myo18b T C 5: 112,908,193 (GRCm39) K2027E possibly damaging Het
Myo7a T C 7: 97,703,545 (GRCm39) probably benign Het
Nlrp9a T C 7: 26,256,703 (GRCm39) I107T probably damaging Het
Or5k17 C A 16: 58,746,772 (GRCm39) R54L possibly damaging Het
Or8g37 T G 9: 39,731,112 (GRCm39) M59R possibly damaging Het
Osbpl5 A G 7: 143,258,767 (GRCm39) S268P probably damaging Het
Pih1d1 T A 7: 44,809,399 (GRCm39) S289T probably benign Het
Pik3c2b A G 1: 132,998,938 (GRCm39) D353G probably damaging Het
Ppef2 A G 5: 92,378,368 (GRCm39) L609P probably damaging Het
Prune2 A T 19: 17,100,199 (GRCm39) D1901V probably damaging Het
Rdh9 T C 10: 127,612,444 (GRCm39) Y31H possibly damaging Het
Slc5a9 T A 4: 111,741,068 (GRCm39) Y526F possibly damaging Het
Slitrk5 A G 14: 111,918,121 (GRCm39) K582E probably benign Het
Sult1c2 A T 17: 54,138,806 (GRCm39) M257K probably damaging Het
Tasor2 T C 13: 3,624,448 (GRCm39) D1834G probably damaging Het
Tmem132d A G 5: 128,061,351 (GRCm39) I417T possibly damaging Het
Tmem229b T C 12: 79,011,908 (GRCm39) T8A probably benign Het
Tmem237 T C 1: 59,153,253 (GRCm39) I89M possibly damaging Het
Tnfrsf17 A T 16: 11,137,683 (GRCm39) D140V probably damaging Het
Tnrc6b T A 15: 80,807,647 (GRCm39) probably benign Het
Trio A G 15: 27,831,485 (GRCm39) L194P probably damaging Het
Vmn2r74 T C 7: 85,605,122 (GRCm39) probably benign Het
Vps13c T A 9: 67,828,217 (GRCm39) M1457K probably benign Het
Zfhx2 A G 14: 55,311,258 (GRCm39) C479R possibly damaging Het
Zfp420 T A 7: 29,574,964 (GRCm39) C395S probably damaging Het
Zfp740 A G 15: 102,121,094 (GRCm39) T136A possibly damaging Het
Zfp82 C T 7: 29,755,754 (GRCm39) E443K probably damaging Het
Zranb2 A G 3: 157,247,400 (GRCm39) S193G probably benign Het
Other mutations in Golga5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01104:Golga5 APN 12 102,460,073 (GRCm39) missense probably damaging 0.99
IGL01487:Golga5 APN 12 102,461,955 (GRCm39) intron probably benign
IGL01585:Golga5 APN 12 102,445,954 (GRCm39) missense probably benign
IGL01901:Golga5 APN 12 102,446,061 (GRCm39) critical splice donor site probably null
IGL02063:Golga5 APN 12 102,438,418 (GRCm39) missense probably benign 0.00
IGL02118:Golga5 APN 12 102,462,011 (GRCm39) missense possibly damaging 0.67
IGL02568:Golga5 APN 12 102,438,338 (GRCm39) missense probably benign 0.33
golgotha UTSW 12 102,450,835 (GRCm39) critical splice donor site probably null
BB007:Golga5 UTSW 12 102,450,681 (GRCm39) missense probably benign 0.31
BB017:Golga5 UTSW 12 102,450,681 (GRCm39) missense probably benign 0.31
FR4976:Golga5 UTSW 12 102,441,919 (GRCm39) splice site probably null
R0244:Golga5 UTSW 12 102,442,447 (GRCm39) missense probably benign
R0432:Golga5 UTSW 12 102,442,467 (GRCm39) missense possibly damaging 0.50
R0552:Golga5 UTSW 12 102,450,752 (GRCm39) missense possibly damaging 0.75
R1244:Golga5 UTSW 12 102,438,554 (GRCm39) missense probably benign 0.01
R1542:Golga5 UTSW 12 102,440,979 (GRCm39) missense probably damaging 1.00
R1791:Golga5 UTSW 12 102,458,390 (GRCm39) missense possibly damaging 0.48
R2310:Golga5 UTSW 12 102,458,420 (GRCm39) missense probably damaging 0.99
R5110:Golga5 UTSW 12 102,438,336 (GRCm39) missense probably benign 0.02
R5704:Golga5 UTSW 12 102,455,707 (GRCm39) missense probably benign 0.00
R6228:Golga5 UTSW 12 102,450,740 (GRCm39) missense probably benign 0.00
R6229:Golga5 UTSW 12 102,450,740 (GRCm39) missense probably benign 0.00
R6241:Golga5 UTSW 12 102,438,732 (GRCm39) missense probably damaging 0.96
R7236:Golga5 UTSW 12 102,441,034 (GRCm39) critical splice donor site probably null
R7355:Golga5 UTSW 12 102,438,494 (GRCm39) missense possibly damaging 0.83
R7404:Golga5 UTSW 12 102,450,778 (GRCm39) missense probably damaging 0.97
R7493:Golga5 UTSW 12 102,450,835 (GRCm39) critical splice donor site probably null
R7930:Golga5 UTSW 12 102,450,681 (GRCm39) missense probably benign 0.31
R8062:Golga5 UTSW 12 102,450,739 (GRCm39) missense probably benign
R8231:Golga5 UTSW 12 102,438,558 (GRCm39) missense probably benign
R8765:Golga5 UTSW 12 102,445,963 (GRCm39) missense probably benign 0.01
R9083:Golga5 UTSW 12 102,458,476 (GRCm39) missense probably benign 0.01
R9085:Golga5 UTSW 12 102,458,476 (GRCm39) missense probably benign 0.01
R9086:Golga5 UTSW 12 102,458,476 (GRCm39) missense probably benign 0.01
R9301:Golga5 UTSW 12 102,443,057 (GRCm39) missense probably benign 0.00
R9655:Golga5 UTSW 12 102,446,008 (GRCm39) missense possibly damaging 0.55
Z1177:Golga5 UTSW 12 102,438,264 (GRCm39) start gained probably benign
Z1187:Golga5 UTSW 12 102,440,853 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- GGTTCCGTTGGGACAGTGAGAATAG -3'
(R):5'- TCGTCTTTCTGTATTAGCAGAGTTGCC -3'

Sequencing Primer
(F):5'- AGAGTATTTCCTGAAACCCTGTG -3'
(R):5'- ATTAGCAGAGTTGCCTACCG -3'
Posted On 2013-07-30