Incidental Mutation 'IGL03132:Gorasp2'
ID410373
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gorasp2
Ensembl Gene ENSMUSG00000014959
Gene Namegolgi reassembly stacking protein 2
SynonymsGRASP55, GRS2, 9430094F20Rik, 5730520M13Rik, GOLPH2, p59, ENSMUSG00000075299
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.116) question?
Stock #IGL03132
Quality Score
Status
Chromosome2
Chromosomal Location70661576-70712636 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 70684035 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 232 (V232A)
Ref Sequence ENSEMBL: ENSMUSP00000107820 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028509] [ENSMUST00000112201] [ENSMUST00000112205] [ENSMUST00000133432]
Predicted Effect probably benign
Transcript: ENSMUST00000028509
AA Change: V252A

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000028509
Gene: ENSMUSG00000014959
AA Change: V252A

DomainStartEndE-ValueType
PDZ 5 75 8.14e-1 SMART
internal_repeat_1 107 196 4.52e-17 PROSPERO
low complexity region 236 252 N/A INTRINSIC
low complexity region 307 329 N/A INTRINSIC
low complexity region 333 358 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112201
AA Change: V232A

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000107820
Gene: ENSMUSG00000014959
AA Change: V232A

DomainStartEndE-ValueType
Pfam:GRASP55_65 1 62 4.6e-11 PFAM
Pfam:GRASP55_65 49 185 1.9e-65 PFAM
low complexity region 216 232 N/A INTRINSIC
low complexity region 287 309 N/A INTRINSIC
low complexity region 313 338 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112205
AA Change: V252A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000107824
Gene: ENSMUSG00000014959
AA Change: V252A

DomainStartEndE-ValueType
PDZ 5 75 3.9e-3 SMART
internal_repeat_1 107 196 7.65e-17 PROSPERO
low complexity region 236 252 N/A INTRINSIC
low complexity region 307 329 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000133432
AA Change: V252A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000121549
Gene: ENSMUSG00000014959
AA Change: V252A

DomainStartEndE-ValueType
PDZ 5 75 8.14e-1 SMART
internal_repeat_1 107 196 1.1e-15 PROSPERO
low complexity region 236 252 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136485
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Golgi reassembly stacking protein family. These proteins may play a role in the stacking of Golgi cisternae and Golgi ribbon formation, as well as Golgi fragmentation during apoptosis or mitosis. The encoded protein also plays a role in the intracellular transport of transforming growth factor alpha and may function as a molecular chaperone. A pseudogene of this gene is located on the short arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 G A 6: 88,838,959 R177C probably benign Het
Adam21 C A 12: 81,560,374 G205* probably null Het
Baz2b T A 2: 59,907,753 probably benign Het
Col6a3 C T 1: 90,803,893 G939D probably damaging Het
Csf1r A G 18: 61,128,099 E749G probably benign Het
Dnm3 C T 1: 162,011,105 probably null Het
Dsg3 A G 18: 20,524,596 D241G probably damaging Het
Dst T C 1: 34,256,641 S6015P probably benign Het
Dvl2 T C 11: 70,005,688 S183P probably benign Het
Exoc6b T C 6: 84,791,264 N699S possibly damaging Het
Fat2 T C 11: 55,253,920 R4043G probably benign Het
Gbp9 T A 5: 105,084,953 T278S possibly damaging Het
Gm2a T A 11: 55,103,648 I48N probably damaging Het
Gpa33 G A 1: 166,152,649 D94N probably benign Het
Il1rap A T 16: 26,680,119 S123C probably damaging Het
Kctd17 T C 15: 78,435,687 S102P probably damaging Het
Lamb1 A G 12: 31,300,334 probably null Het
Mfsd1 T A 3: 67,587,940 I131K possibly damaging Het
Pkhd1l1 G A 15: 44,574,617 C3576Y probably damaging Het
Pla2g4a A T 1: 149,902,284 probably benign Het
Ptpn11 T A 5: 121,134,815 D575V possibly damaging Het
Reck A T 4: 43,938,898 R755* probably null Het
Scgb2b21 A G 7: 33,519,874 V35A possibly damaging Het
Srpr G A 9: 35,214,278 probably null Het
Stk11ip T C 1: 75,536,089 S1025P probably benign Het
Tmprss9 G A 10: 80,894,865 V742M probably damaging Het
Trh T C 6: 92,243,774 T36A probably benign Het
Trim35 A G 14: 66,309,146 E454G probably damaging Het
Vmn2r99 C T 17: 19,378,223 Q170* probably null Het
Other mutations in Gorasp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00928:Gorasp2 APN 2 70690864 missense probably benign
IGL01108:Gorasp2 APN 2 70678578 missense probably damaging 1.00
IGL01611:Gorasp2 APN 2 70689260 missense possibly damaging 0.87
IGL02472:Gorasp2 APN 2 70676459 splice site probably benign
IGL02794:Gorasp2 APN 2 70679494 nonsense probably null
IGL03369:Gorasp2 APN 2 70682992 missense probably damaging 1.00
R0049:Gorasp2 UTSW 2 70690723 missense possibly damaging 0.83
R0049:Gorasp2 UTSW 2 70690723 missense possibly damaging 0.83
R0846:Gorasp2 UTSW 2 70690954 missense probably benign 0.01
R1112:Gorasp2 UTSW 2 70690814 missense probably benign 0.00
R1168:Gorasp2 UTSW 2 70688400 missense probably damaging 1.00
R1862:Gorasp2 UTSW 2 70679464 missense probably damaging 1.00
R4062:Gorasp2 UTSW 2 70679513 missense probably damaging 1.00
R4636:Gorasp2 UTSW 2 70679492 missense probably damaging 1.00
R4911:Gorasp2 UTSW 2 70688339 intron probably benign
R5215:Gorasp2 UTSW 2 70689254 missense probably benign 0.04
R5473:Gorasp2 UTSW 2 70678606 missense probably damaging 0.97
R6005:Gorasp2 UTSW 2 70690751 missense probably benign 0.01
R6220:Gorasp2 UTSW 2 70690790 missense probably damaging 1.00
R6358:Gorasp2 UTSW 2 70672760 start codon destroyed probably null 0.00
R7225:Gorasp2 UTSW 2 70684047 missense probably damaging 0.98
R7278:Gorasp2 UTSW 2 70679505 missense probably damaging 0.96
R7895:Gorasp2 UTSW 2 70684098 missense probably benign 0.00
Posted On2016-08-02