Incidental Mutation 'IGL01611:Gorasp2'
ID 92102
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 # IGL01611
Quality Score
Status
Chromosome 2
Chromosomal Location 70491520-70522069 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 70519604 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 310 (H310N)
Ref Sequence ENSEMBL: ENSMUSP00000107820 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028509] [ENSMUST00000112201] [ENSMUST00000112205] [ENSMUST00000133432]
AlphaFold Q99JX3
Predicted Effect possibly damaging
Transcript: ENSMUST00000028509
AA Change: H330N

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000028509
Gene: ENSMUSG00000014959
AA Change: H330N

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 possibly damaging
Transcript: ENSMUST00000112201
AA Change: H310N

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107820
Gene: ENSMUSG00000014959
AA Change: H310N

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: H330N

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000107824
Gene: ENSMUSG00000014959
AA Change: H330N

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
SMART Domains Protein: ENSMUSP00000121549
Gene: ENSMUSG00000014959

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A G 12: 72,954,644 (GRCm39) L209S possibly damaging Het
Abcc2 G T 19: 43,815,068 (GRCm39) V1152F probably damaging Het
Adam9 C T 8: 25,457,212 (GRCm39) V639I probably benign Het
Cdc6 A G 11: 98,805,989 (GRCm39) I388V probably benign Het
Chrm5 C T 2: 112,310,651 (GRCm39) W155* probably null Het
Chrna9 A G 5: 66,128,287 (GRCm39) D161G probably damaging Het
Det1 A G 7: 78,477,702 (GRCm39) V541A possibly damaging Het
Efhc1 G T 1: 21,060,911 (GRCm39) *649L probably null Het
Ehbp1 C T 11: 22,122,883 (GRCm39) V146M probably damaging Het
Enam A C 5: 88,651,608 (GRCm39) D1039A probably damaging Het
Fam20b A T 1: 156,530,035 (GRCm39) V133E probably benign Het
Frem2 T A 3: 53,563,130 (GRCm39) Q459L probably benign Het
Gapdhs C T 7: 30,429,866 (GRCm39) probably benign Het
Gm3404 T A 5: 146,465,157 (GRCm39) V299D possibly damaging Het
Gpr157 T C 4: 150,186,094 (GRCm39) S219P possibly damaging Het
Gpt2 T A 8: 86,246,167 (GRCm39) C375* probably null Het
Gtf2h3 T C 5: 124,733,748 (GRCm39) S274P probably damaging Het
Hmg20b C T 10: 81,183,309 (GRCm39) V83M probably benign Het
Igf2r G T 17: 12,944,302 (GRCm39) Y400* probably null Het
Ipo9 A T 1: 135,314,431 (GRCm39) W942R possibly damaging Het
Iqch T C 9: 63,403,519 (GRCm39) probably null Het
Kcnh3 T C 15: 99,127,383 (GRCm39) L393P probably benign Het
Kcnk12 T A 17: 88,104,495 (GRCm39) I130L probably benign Het
Lcorl T C 5: 45,904,434 (GRCm39) T205A probably damaging Het
Lpar6 G T 14: 73,476,878 (GRCm39) A280S probably damaging Het
Mgarp A T 3: 51,296,570 (GRCm39) V152E probably damaging Het
Pard3b A G 1: 62,677,021 (GRCm39) D1184G probably damaging Het
Pcnt A G 10: 76,272,258 (GRCm39) probably null Het
Pde6b A G 5: 108,551,262 (GRCm39) N182S possibly damaging Het
Pom121 T C 5: 135,412,526 (GRCm39) K516E unknown Het
Psmg2 G A 18: 67,786,293 (GRCm39) V218I probably benign Het
Ptpn18 T C 1: 34,498,898 (GRCm39) probably benign Het
Rapgef5 C T 12: 117,717,154 (GRCm39) probably benign Het
Ryr2 A G 13: 11,606,202 (GRCm39) L4460S possibly damaging Het
Sema6b T C 17: 56,436,969 (GRCm39) probably null Het
Serpinb6d T A 13: 33,850,375 (GRCm39) C67* probably null Het
Sorbs2 T G 8: 46,248,381 (GRCm39) V510G probably null Het
Spic T A 10: 88,511,864 (GRCm39) I131F possibly damaging Het
Spire2 T C 8: 124,086,137 (GRCm39) S290P probably damaging Het
Tas2r117 C T 6: 132,780,447 (GRCm39) S195F probably benign Het
Tas2r117 T C 6: 132,780,450 (GRCm39) V196A probably damaging Het
Tff1 C T 17: 31,381,703 (GRCm39) G58D probably damaging Het
Tmprss11g T C 5: 86,638,640 (GRCm39) T283A probably benign Het
Toporsl T A 4: 52,610,794 (GRCm39) L229H probably damaging Het
Vmn2r80 G A 10: 79,007,488 (GRCm39) G488D probably damaging Het
Vps54 T A 11: 21,261,082 (GRCm39) V583D probably damaging Het
Vwa1 T C 4: 155,855,255 (GRCm39) E286G possibly damaging Het
Vwde A T 6: 13,219,977 (GRCm39) I58N probably damaging Het
Zbtb11 T C 16: 55,800,973 (GRCm39) V109A probably damaging Het
Zfp319 C T 8: 96,055,540 (GRCm39) R221Q probably benign 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
IGL02472:Gorasp2 APN 2 70,506,803 (GRCm39) splice site probably benign
IGL02794:Gorasp2 APN 2 70,509,838 (GRCm39) nonsense probably null
IGL03132:Gorasp2 APN 2 70,514,379 (GRCm39) missense probably benign 0.24
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 2013-12-09