Incidental Mutation 'R0244:Golga5'
ID 38001
Institutional Source Beutler Lab
Gene Symbol Golga5
Ensembl Gene ENSMUSG00000021192
Gene Name golgin A5
Synonyms Ret-II
MMRRC Submission 038482-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0244 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 102435394-102464166 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102442447 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 262 (V262A)
Ref Sequence ENSEMBL: ENSMUSP00000137305 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021609] [ENSMUST00000179218]
AlphaFold Q9QYE6
Predicted Effect probably benign
Transcript: ENSMUST00000021609
AA Change: V262A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021609
Gene: ENSMUSG00000021192
AA Change: V262A

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 probably benign
Transcript: ENSMUST00000179218
AA Change: V262A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000137305
Gene: ENSMUSG00000021192
AA Change: V262A

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.5%
Validation Efficiency 99% (88/89)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 A T 14: 68,806,172 (GRCm39) C434* probably null Het
Adprhl1 A G 8: 13,292,391 (GRCm39) probably benign Het
Ago1 T A 4: 126,357,499 (GRCm39) I59F possibly damaging Het
Arel1 T C 12: 84,967,467 (GRCm39) T786A probably damaging Het
Arhgap26 A G 18: 39,496,184 (GRCm39) K117R probably benign Het
Atp6v0b C T 4: 117,741,819 (GRCm39) G204D probably damaging Het
Bace2 T A 16: 97,237,973 (GRCm39) probably null Het
Bltp2 T A 11: 78,177,317 (GRCm39) probably null Het
Camk4 G A 18: 33,312,678 (GRCm39) probably null Het
Cdh26 C T 2: 178,123,425 (GRCm39) R675C possibly damaging Het
Cep152 T C 2: 125,406,134 (GRCm39) E1466G probably benign Het
Ces3b T C 8: 105,819,267 (GRCm39) F441S probably damaging Het
Cfap52 T C 11: 67,817,208 (GRCm39) T562A possibly damaging Het
Clca3a2 C A 3: 144,519,659 (GRCm39) M238I possibly damaging Het
Cntnap5c A T 17: 58,409,163 (GRCm39) D467V probably damaging Het
Col7a1 T A 9: 108,801,252 (GRCm39) probably null Het
Cstf1 A G 2: 172,219,630 (GRCm39) N247S possibly damaging Het
Dffb G T 4: 154,059,072 (GRCm39) N68K probably benign Het
Dnaaf10 T C 11: 17,179,851 (GRCm39) L284P probably damaging Het
Duox2 C T 2: 122,122,341 (GRCm39) G595S probably benign Het
Eftud2 T A 11: 102,755,551 (GRCm39) I228F probably damaging Het
Elmo3 T C 8: 106,035,803 (GRCm39) V578A probably benign Het
Elp2 A G 18: 24,764,528 (GRCm39) D625G possibly damaging Het
Ep300 C T 15: 81,524,329 (GRCm39) P1386S unknown Het
Fam120b A G 17: 15,637,899 (GRCm39) D610G probably damaging Het
Fastk A T 5: 24,647,176 (GRCm39) probably benign Het
Fbxl6 A G 15: 76,421,391 (GRCm39) S252P probably damaging Het
Fbxo43 T C 15: 36,161,939 (GRCm39) K423E probably damaging Het
Filip1 T A 9: 79,726,744 (GRCm39) E625V possibly damaging Het
Fkbp9 T A 6: 56,833,363 (GRCm39) Y283* probably null Het
Gigyf2 T A 1: 87,306,737 (GRCm39) D142E possibly damaging Het
Gm10142 T C 10: 77,551,848 (GRCm39) probably null Het
Hectd4 T C 5: 121,467,668 (GRCm39) V2539A probably benign Het
Ica1 G T 6: 8,653,632 (GRCm39) S335* probably null Het
Itga1 A T 13: 115,143,433 (GRCm39) probably benign Het
Itgb1 T C 8: 129,444,166 (GRCm39) probably benign Het
Itpr1 G A 6: 108,450,550 (GRCm39) V1960I probably benign Het
Kcnh4 C T 11: 100,637,758 (GRCm39) G633E probably benign Het
Kprp C T 3: 92,732,718 (GRCm39) V111I probably benign Het
Lamc3 T C 2: 31,830,733 (GRCm39) I1490T probably damaging Het
Lcp1 A T 14: 75,464,441 (GRCm39) D554V possibly damaging Het
Lgi3 A G 14: 70,772,138 (GRCm39) T228A probably benign Het
Lipa A T 19: 34,478,941 (GRCm39) F260I probably damaging Het
Lrriq1 C T 10: 103,051,634 (GRCm39) E373K probably damaging Het
Map6 G A 7: 98,986,043 (GRCm39) G649D probably benign Het
Mccc1 A G 3: 36,044,196 (GRCm39) probably null Het
Mical3 A T 6: 120,934,683 (GRCm39) S1799T probably benign Het
Mmp23 T A 4: 155,736,589 (GRCm39) T151S probably damaging Het
Myo1d T A 11: 80,565,534 (GRCm39) N401I probably damaging Het
Myo9b T A 8: 71,774,457 (GRCm39) S323T probably damaging Het
Nbn G T 4: 15,979,353 (GRCm39) W446L probably benign Het
Nedd1 A T 10: 92,552,127 (GRCm39) probably benign Het
Ngef C A 1: 87,415,684 (GRCm39) probably benign Het
Nup153 A T 13: 46,847,412 (GRCm39) N672K probably benign Het
Or10d1b T A 9: 39,613,469 (GRCm39) I199F probably damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or4e2 T C 14: 52,687,969 (GRCm39) V33A probably benign Het
Or4f57 T C 2: 111,791,361 (GRCm39) N19S probably benign Het
Pakap T G 4: 57,710,177 (GRCm39) V374G possibly damaging Het
Pdlim3 C A 8: 46,361,497 (GRCm39) probably benign Het
Pmfbp1 G A 8: 110,268,305 (GRCm39) E951K probably damaging Het
Pop1 T A 15: 34,516,037 (GRCm39) C548* probably null Het
Ppp1r16a C T 15: 76,574,999 (GRCm39) probably benign Het
Ptpdc1 A T 13: 48,739,456 (GRCm39) N658K probably benign Het
Ptprk A C 10: 28,082,221 (GRCm39) E63D possibly damaging Het
Rtf1 C T 2: 119,563,358 (GRCm39) R712W probably damaging Het
Samd7 A C 3: 30,805,222 (GRCm39) T2P probably benign Het
Sft2d1 A G 17: 8,538,254 (GRCm39) T52A probably benign Het
Slc25a26 A G 6: 94,487,814 (GRCm39) H91R probably damaging Het
Slc5a4a A G 10: 76,024,986 (GRCm39) E621G possibly damaging Het
Slf1 A T 13: 77,274,751 (GRCm39) L28* probably null Het
Snapc1 C T 12: 74,021,806 (GRCm39) R81C probably damaging Het
Sorcs2 G A 5: 36,554,897 (GRCm39) probably benign Het
Tacc2 T C 7: 130,353,555 (GRCm39) probably benign Het
Tas2r140 A G 6: 133,032,290 (GRCm39) V156A possibly damaging Het
Terf2ip C A 8: 112,744,796 (GRCm39) T371K possibly damaging Het
Tifa C T 3: 127,590,537 (GRCm39) L103F probably damaging Het
Tmco3 A G 8: 13,342,037 (GRCm39) N104D probably damaging Het
Tmem259 T A 10: 79,814,797 (GRCm39) D240V probably damaging Het
Trim60 C T 8: 65,453,700 (GRCm39) R183H probably benign Het
Trps1 T C 15: 50,528,139 (GRCm39) N725D probably damaging Het
Ttn C T 2: 76,645,150 (GRCm39) V12902M probably damaging Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Unc79 A G 12: 103,079,150 (GRCm39) K1772E probably damaging Het
Vwde C T 6: 13,193,125 (GRCm39) V405I probably benign Het
Wdr18 T A 10: 79,802,242 (GRCm39) D290E probably damaging Het
Wwc2 G A 8: 48,353,756 (GRCm39) A126V probably benign Het
Zfp882 A T 8: 72,667,367 (GRCm39) I105F possibly damaging Het
Zfp942 A T 17: 22,147,553 (GRCm39) C359S 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
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
R0659:Golga5 UTSW 12 102,442,467 (GRCm39) missense possibly damaging 0.50
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 2013-05-23