Incidental Mutation 'IGL03132:Gorasp2'
ID 410373
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gorasp2
Ensembl Gene ENSMUSG00000014959
Gene Name golgi reassembly stacking protein 2
Synonyms ENSMUSG00000075299, 9430094F20Rik, GOLPH2, GRASP55, 5730520M13Rik, GRS2, p59
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # IGL03132
Quality Score
Status
Chromosome 2
Chromosomal Location 70491520-70522069 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70514379 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q99JX3
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: 88,815,941 (GRCm39) R177C probably benign Het
Adam21 C A 12: 81,607,148 (GRCm39) G205* probably null Het
Baz2b T A 2: 59,738,097 (GRCm39) probably benign Het
Col6a3 C T 1: 90,731,615 (GRCm39) G939D probably damaging Het
Csf1r A G 18: 61,261,171 (GRCm39) E749G probably benign Het
Dnm3 C T 1: 161,838,674 (GRCm39) probably null Het
Dsg3 A G 18: 20,657,653 (GRCm39) D241G probably damaging Het
Dst T C 1: 34,295,722 (GRCm39) S6015P probably benign Het
Dvl2 T C 11: 69,896,514 (GRCm39) S183P probably benign Het
Exoc6b T C 6: 84,768,246 (GRCm39) N699S possibly damaging Het
Fat2 T C 11: 55,144,746 (GRCm39) R4043G probably benign Het
Gbp9 T A 5: 105,232,819 (GRCm39) T278S possibly damaging Het
Gm2a T A 11: 54,994,474 (GRCm39) I48N probably damaging Het
Gpa33 G A 1: 165,980,218 (GRCm39) D94N probably benign Het
Il1rap A T 16: 26,498,869 (GRCm39) S123C probably damaging Het
Kctd17 T C 15: 78,319,887 (GRCm39) S102P probably damaging Het
Lamb1 A G 12: 31,350,333 (GRCm39) probably null Het
Mfsd1 T A 3: 67,495,273 (GRCm39) I131K possibly damaging Het
Pkhd1l1 G A 15: 44,438,013 (GRCm39) C3576Y probably damaging Het
Pla2g4a A T 1: 149,778,035 (GRCm39) probably benign Het
Ptpn11 T A 5: 121,272,878 (GRCm39) D575V possibly damaging Het
Reck A T 4: 43,938,898 (GRCm39) R755* probably null Het
Scgb2b21 A G 7: 33,219,299 (GRCm39) V35A possibly damaging Het
Srpra G A 9: 35,125,574 (GRCm39) probably null Het
Stk11ip T C 1: 75,512,733 (GRCm39) S1025P probably benign Het
Tmprss9 G A 10: 80,730,699 (GRCm39) V742M probably damaging Het
Trh T C 6: 92,220,755 (GRCm39) T36A probably benign Het
Trim35 A G 14: 66,546,595 (GRCm39) E454G probably damaging Het
Vmn2r99 C T 17: 19,598,485 (GRCm39) Q170* probably null Het
Other mutations in Gorasp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00928:Gorasp2 APN 2 70,521,208 (GRCm39) missense probably benign
IGL01108:Gorasp2 APN 2 70,508,922 (GRCm39) missense probably damaging 1.00
IGL01611:Gorasp2 APN 2 70,519,604 (GRCm39) missense possibly damaging 0.87
IGL02472:Gorasp2 APN 2 70,506,803 (GRCm39) splice site probably benign
IGL02794:Gorasp2 APN 2 70,509,838 (GRCm39) nonsense probably null
IGL03369:Gorasp2 APN 2 70,513,336 (GRCm39) missense probably damaging 1.00
R0049:Gorasp2 UTSW 2 70,521,067 (GRCm39) missense possibly damaging 0.83
R0049:Gorasp2 UTSW 2 70,521,067 (GRCm39) missense possibly damaging 0.83
R0846:Gorasp2 UTSW 2 70,521,298 (GRCm39) missense probably benign 0.01
R1112:Gorasp2 UTSW 2 70,521,158 (GRCm39) missense probably benign 0.00
R1168:Gorasp2 UTSW 2 70,518,744 (GRCm39) missense probably damaging 1.00
R1862:Gorasp2 UTSW 2 70,509,808 (GRCm39) missense probably damaging 1.00
R4062:Gorasp2 UTSW 2 70,509,857 (GRCm39) missense probably damaging 1.00
R4636:Gorasp2 UTSW 2 70,509,836 (GRCm39) missense probably damaging 1.00
R4911:Gorasp2 UTSW 2 70,518,683 (GRCm39) intron probably benign
R5215:Gorasp2 UTSW 2 70,519,598 (GRCm39) missense probably benign 0.04
R5473:Gorasp2 UTSW 2 70,508,950 (GRCm39) missense probably damaging 0.97
R6005:Gorasp2 UTSW 2 70,521,095 (GRCm39) missense probably benign 0.01
R6220:Gorasp2 UTSW 2 70,521,134 (GRCm39) missense probably damaging 1.00
R6358:Gorasp2 UTSW 2 70,503,104 (GRCm39) start codon destroyed probably null 0.00
R7225:Gorasp2 UTSW 2 70,514,391 (GRCm39) missense probably damaging 0.98
R7278:Gorasp2 UTSW 2 70,509,849 (GRCm39) missense probably damaging 0.96
R7895:Gorasp2 UTSW 2 70,514,442 (GRCm39) missense probably benign 0.00
R9421:Gorasp2 UTSW 2 70,509,867 (GRCm39) missense probably damaging 1.00
R9440:Gorasp2 UTSW 2 70,541,469 (GRCm39) critical splice donor site probably null
Posted On 2016-08-02