Incidental Mutation 'R2181:Gorasp1'
ID 237192
Institutional Source Beutler Lab
Gene Symbol Gorasp1
Ensembl Gene ENSMUSG00000032513
Gene Name golgi reassembly stacking protein 1
Synonyms GOLPH5, P65, 5430411C10Rik, GRASP65
MMRRC Submission 040183-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.206) question?
Stock # R2181 (G1)
Quality Score 190
Status Not validated
Chromosome 9
Chromosomal Location 119754739-119766624 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119757422 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 317 (S317P)
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: S317P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000035099
Gene: ENSMUSG00000032513
AA Change: S317P

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 noncoding transcript
Transcript: ENSMUST00000213409
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214118
Predicted Effect probably benign
Transcript: ENSMUST00000215167
Predicted Effect probably benign
Transcript: ENSMUST00000215307
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217429
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 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 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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700037C18Rik C T 16: 3,724,950 (GRCm39) S43N possibly damaging Het
Abcb5 T G 12: 118,831,681 (GRCm39) I1224L possibly damaging Het
Adgra2 G A 8: 27,611,701 (GRCm39) G1002S probably damaging Het
Arhgap28 T C 17: 68,203,112 (GRCm39) T114A probably damaging Het
Colec12 T A 18: 9,846,828 (GRCm39) S75T probably damaging Het
Cyp2c67 A G 19: 39,597,541 (GRCm39) C486R possibly damaging Het
Ecm2 T A 13: 49,683,765 (GRCm39) L581Q probably damaging Het
Faxc T A 4: 21,931,591 (GRCm39) S10T probably benign Het
Frem2 A G 3: 53,482,008 (GRCm39) I1893T possibly damaging Het
Gabrr3 T A 16: 59,268,372 (GRCm39) D328E probably damaging Het
Gbp7 A G 3: 142,249,791 (GRCm39) I421V possibly damaging Het
Htr6 A G 4: 138,801,736 (GRCm39) S113P probably damaging Het
Ift74 A G 4: 94,520,951 (GRCm39) E168G probably damaging Het
Kdm6b A T 11: 69,291,952 (GRCm39) Y1443* probably null Het
Mmp28 A C 11: 83,333,543 (GRCm39) V466G possibly damaging Het
Nbea A T 3: 55,937,360 (GRCm39) S750R possibly damaging Het
Nbeal1 T C 1: 60,317,939 (GRCm39) F1959L probably damaging Het
Nelfa T C 5: 34,057,853 (GRCm39) N314D probably benign Het
Numbl T A 7: 26,968,346 (GRCm39) probably null Het
Or13c25 T A 4: 52,911,524 (GRCm39) K90M probably damaging Het
Or1j17 G A 2: 36,578,346 (GRCm39) D111N probably damaging Het
Or2p2 G T 13: 21,257,394 (GRCm39) P26T probably damaging Het
Or52e5 T C 7: 104,719,418 (GRCm39) V248A possibly damaging Het
Or5b113 G T 19: 13,342,438 (GRCm39) V149F probably benign Het
Penk T C 4: 4,134,041 (GRCm39) probably null Het
Pglyrp2 A G 17: 32,637,936 (GRCm39) S31P probably damaging Het
Pigg T C 5: 108,484,366 (GRCm39) S538P probably damaging Het
Pld2 A G 11: 70,433,815 (GRCm39) T252A possibly damaging Het
Ppp2r5e T C 12: 75,509,098 (GRCm39) I394V probably benign Het
Sh3rf1 G T 8: 61,816,272 (GRCm39) V510F probably damaging Het
Slc4a2 A G 5: 24,640,651 (GRCm39) H677R possibly damaging Het
Stam2 A T 2: 52,593,156 (GRCm39) H345Q probably benign Het
Tmtc3 T C 10: 100,284,835 (GRCm39) N600S probably benign Het
Trappc8 A G 18: 20,952,279 (GRCm39) probably null Het
Vmn1r72 A T 7: 11,403,595 (GRCm39) C284* probably null Het
Vmn2r76 T C 7: 85,874,743 (GRCm39) I745V probably benign Het
Zfhx4 A C 3: 5,468,392 (GRCm39) D2850A probably damaging Het
Zfp764 A G 7: 127,005,671 (GRCm39) W36R probably damaging Het
Zfp804b G A 5: 6,821,674 (GRCm39) T463I probably damaging Het
Zfp811 T G 17: 33,016,695 (GRCm39) K448N 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
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
R9113:Gorasp1 UTSW 9 119,757,442 (GRCm39) missense probably damaging 1.00
X0021:Gorasp1 UTSW 9 119,759,037 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- ACACAGGATTTCTCAGACGGC -3'
(R):5'- CATGATGTTCAGCTCTGGGTTC -3'

Sequencing Primer
(F):5'- GGATTTCTCAGACGGCATCAC -3'
(R):5'- GCTCCCATATCTCCAGTAGT -3'
Posted On 2014-10-02