Incidental Mutation 'R9113:Gorasp1'
ID 692368
Institutional Source Beutler Lab
Gene Symbol Gorasp1
Ensembl Gene ENSMUSG00000032513
Gene Name golgi reassembly stacking protein 1
Synonyms GOLPH5, P65, 5430411C10Rik, GRASP65
MMRRC Submission 068920-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.206) question?
Stock # R9113 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 119754739-119766624 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119757442 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 310 (F310S)
Ref Sequence ENSEMBL: ENSMUSP00000035099 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035099] [ENSMUST00000036561] [ENSMUST00000177637] [ENSMUST00000215167] [ENSMUST00000215307]
AlphaFold Q91X51
Predicted Effect probably damaging
Transcript: ENSMUST00000035099
AA Change: F310S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000035099
Gene: ENSMUSG00000032513
AA Change: F310S

DomainStartEndE-ValueType
Pfam:GRASP55_65 2 99 2.6e-22 PFAM
Pfam:GRASP55_65 68 204 4e-60 PFAM
low complexity region 212 224 N/A INTRINSIC
low complexity region 329 361 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000036561
SMART Domains Protein: ENSMUSP00000042509
Gene: ENSMUSG00000032512

DomainStartEndE-ValueType
WD40 14 58 2.88e-1 SMART
WD40 64 103 2.1e-7 SMART
WD40 106 145 1.37e-6 SMART
WD40 157 196 5.39e-5 SMART
WD40 199 238 1.62e-8 SMART
WD40 241 280 4.62e-4 SMART
WD40 350 388 8.84e1 SMART
low complexity region 460 471 N/A INTRINSIC
Pfam:DUF3337 509 673 1.1e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177637
SMART Domains Protein: ENSMUSP00000136413
Gene: ENSMUSG00000052336

DomainStartEndE-ValueType
Pfam:7tm_1 49 294 3.5e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215167
Predicted Effect probably benign
Transcript: ENSMUST00000215307
Meta Mutation Damage Score 0.4634 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.6%
Validation Efficiency 100% (50/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a membrane protein involved in establishing the stacked structure of the Golgi apparatus. It is a caspase-3 substrate, and cleavage of this encoded protein contributes to Golgi fragmentation in apoptosis. This encoded protein can form a complex with the Golgi matrix protein GOLGA2, and this complex binds to the vesicle docking protein p115. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a targeted disruption of this gene are viable, fertile and healthy with no detectable tissue defects. However, immortalized mutant embryonic fibroblasts show loss of cis Golgi integrity and glycosylation defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T A 6: 142,591,656 (GRCm39) I791F probably damaging Het
Adamts15 A G 9: 30,822,498 (GRCm39) M389T probably damaging Het
Adgrb2 G A 4: 129,910,877 (GRCm39) V1065M probably damaging Het
Agbl1 C A 7: 76,239,225 (GRCm39) A827E unknown Het
Alox5ap T C 5: 149,216,015 (GRCm39) F67S probably damaging Het
Ankrd11 T C 8: 123,614,072 (GRCm39) N2566S possibly damaging Het
Arhgap10 T C 8: 77,985,701 (GRCm39) D722G probably damaging Het
Atp5mf A G 5: 145,128,315 (GRCm39) L4P probably benign Het
Bean1 T C 8: 104,940,557 (GRCm39) V130A probably benign Het
Ccdc88b T C 19: 6,833,213 (GRCm39) E278G probably damaging Het
Cdhr2 A G 13: 54,882,700 (GRCm39) D1222G probably benign Het
Chrm4 T A 2: 91,758,075 (GRCm39) V161E probably benign Het
Ckap5 T C 2: 91,426,144 (GRCm39) S1335P probably damaging Het
Col11a1 T A 3: 113,888,192 (GRCm39) Y267* probably null Het
Col14a1 T C 15: 55,201,825 (GRCm39) Y38H unknown Het
Coro2a C T 4: 46,563,047 (GRCm39) G36S Het
Ctsc A T 7: 87,959,104 (GRCm39) K461N possibly damaging Het
Dcaf1 A G 9: 106,712,831 (GRCm39) probably benign Het
Dnah9 A G 11: 65,880,713 (GRCm39) I2628T probably damaging Het
Dnajb5 T C 4: 42,953,233 (GRCm39) I20T probably damaging Het
Dus2 C T 8: 106,775,333 (GRCm39) Q287* probably null Het
Fbxl17 A G 17: 63,532,085 (GRCm39) V586A probably benign Het
Glg1 A T 8: 111,887,452 (GRCm39) probably benign Het
Gm4924 G A 10: 82,214,113 (GRCm39) C637Y unknown Het
Gsta5 A T 9: 78,212,667 (GRCm39) I213F probably benign Het
Igfn1 G A 1: 135,883,328 (GRCm39) T2726I probably damaging Het
Inppl1 G T 7: 101,475,231 (GRCm39) P940Q probably benign Het
Klk1b22 G A 7: 43,765,692 (GRCm39) V183M possibly damaging Het
Krt12 A G 11: 99,309,378 (GRCm39) M294T probably damaging Het
Krtap6-2 GAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCGTATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAACCATAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCA GAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCGTATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAACCATAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCA 16: 89,216,613 (GRCm39) probably benign Het
Lep T C 6: 29,071,093 (GRCm39) L139P probably damaging Het
Ltn1 T C 16: 87,224,532 (GRCm39) D64G probably damaging Het
Lyzl1 C T 18: 4,168,604 (GRCm39) A28V probably null Het
Mcam T C 9: 44,051,693 (GRCm39) V483A probably benign Het
Mia2 C T 12: 59,217,053 (GRCm39) probably benign Het
Mzf1 T A 7: 12,778,279 (GRCm39) H454L probably damaging Het
Pde10a A G 17: 9,197,782 (GRCm39) T742A probably benign Het
Rapgef4 A G 2: 71,861,493 (GRCm39) Y61C probably benign Het
Ryr2 A T 13: 11,618,741 (GRCm39) probably benign Het
Setbp1 G T 18: 78,900,948 (GRCm39) H906Q probably damaging Het
Slc12a4 A G 8: 106,670,984 (GRCm39) V1032A probably benign Het
Slc6a15 T C 10: 103,236,140 (GRCm39) M285T probably damaging Het
Spata31h1 G A 10: 82,131,352 (GRCm39) Q553* probably null Het
Steap2 A G 5: 5,727,475 (GRCm39) Y287H probably damaging Het
Tas2r135 T G 6: 42,383,315 (GRCm39) F285V probably benign Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Ttn T C 2: 76,618,538 (GRCm39) T16249A probably benign Het
Usp8 A G 2: 126,579,343 (GRCm39) T299A probably benign Het
Vmn2r101 A G 17: 19,811,288 (GRCm39) I457M possibly damaging Het
Vps41 A G 13: 19,023,883 (GRCm39) E437G probably benign Het
Zfp638 A T 6: 83,953,894 (GRCm39) E1333V probably damaging Het
Other mutations in Gorasp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0008:Gorasp1 UTSW 9 119,757,312 (GRCm39) missense possibly damaging 0.91
R1782:Gorasp1 UTSW 9 119,761,888 (GRCm39) missense probably damaging 1.00
R1873:Gorasp1 UTSW 9 119,759,306 (GRCm39) missense probably benign 0.23
R2181:Gorasp1 UTSW 9 119,757,422 (GRCm39) missense probably damaging 1.00
R4020:Gorasp1 UTSW 9 119,757,936 (GRCm39) missense probably benign 0.00
R5356:Gorasp1 UTSW 9 119,757,024 (GRCm39) missense probably damaging 1.00
R6059:Gorasp1 UTSW 9 119,759,072 (GRCm39) missense probably damaging 0.99
R6525:Gorasp1 UTSW 9 119,757,061 (GRCm39) missense possibly damaging 0.78
R6798:Gorasp1 UTSW 9 119,758,663 (GRCm39) missense probably benign 0.02
R7341:Gorasp1 UTSW 9 119,766,600 (GRCm39) intron probably benign
X0021:Gorasp1 UTSW 9 119,759,037 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GGCATCACTAAAGGCCACTC -3'
(R):5'- TACTCCATGATGTTCAGCTCTGG -3'

Sequencing Primer
(F):5'- TCACCACCCCGCTCGTG -3'
(R):5'- AGGTAGCCCAGGAATATG -3'
Posted On 2021-12-30