Incidental Mutation 'IGL02472:Gorasp2'
ID294795
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: 0.115) question?
Stock #IGL02472
Quality Score
Status
Chromosome2
Chromosomal Location70661576-70712636 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to G at 70676459 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121549 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028509] [ENSMUST00000112201] [ENSMUST00000112205] [ENSMUST00000133432]
Predicted Effect probably benign
Transcript: ENSMUST00000028509
SMART Domains Protein: ENSMUSP00000028509
Gene: ENSMUSG00000014959

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
SMART Domains Protein: ENSMUSP00000107820
Gene: ENSMUSG00000014959

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
SMART Domains Protein: ENSMUSP00000107824
Gene: ENSMUSG00000014959

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 noncoding transcript
Transcript: ENSMUST00000130970
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
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik A G 15: 76,950,378 N158S probably damaging Het
Ankrd17 A C 5: 90,264,151 L1285V probably damaging Het
Atp8b2 G A 3: 89,954,239 T267I probably damaging Het
Becn1 C T 11: 101,291,398 G115D probably benign Het
Cd3eap T C 7: 19,359,105 D50G probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Chd6 A C 2: 160,984,452 probably benign Het
Col22a1 A G 15: 71,827,753 probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dnm2 A G 9: 21,485,708 I494V possibly damaging Het
Dock2 T A 11: 34,249,801 E1416D probably benign Het
Eif2ak1 A G 5: 143,884,883 H339R probably benign Het
Espnl C T 1: 91,340,534 P294L probably benign Het
Ftmt T A 18: 52,331,840 I76N possibly damaging Het
Hadhb T A 5: 30,184,063 M468K possibly damaging Het
Hfm1 A G 5: 106,873,928 probably benign Het
Inpp5j T C 11: 3,495,338 probably benign Het
Ipo7 T A 7: 110,040,853 F288I probably damaging Het
Kcnv1 T A 15: 45,109,123 K455* probably null Het
Kdm5a A G 6: 120,406,730 probably benign Het
Kmt2d G A 15: 98,850,077 S3122F probably benign Het
Kndc1 A G 7: 139,910,901 I440V probably benign Het
Mib2 T A 4: 155,656,746 I545F probably damaging Het
Nav2 C T 7: 49,546,041 P1055L probably damaging Het
Olfr111 C A 17: 37,530,749 F257L probably damaging Het
Olfr1257 T A 2: 89,881,411 I195N probably benign Het
Plch1 A T 3: 63,701,849 L65Q probably damaging Het
Ppp3ca A G 3: 136,921,862 I396V possibly damaging Het
Ryr1 A T 7: 29,040,844 N3917K probably damaging Het
Scn7a T C 2: 66,752,314 T80A probably damaging Het
Sema3f C T 9: 107,687,736 E307K probably damaging Het
Serpinb9b A T 13: 33,039,970 probably benign Het
Siglec15 T A 18: 78,043,617 K342N possibly damaging Het
Slc2a12 T C 10: 22,665,155 F303S probably damaging Het
Slc9c1 T C 16: 45,580,142 V705A probably benign Het
Tenm4 T C 7: 96,774,176 probably benign Het
Tm6sf1 A T 7: 81,875,824 probably benign Het
Tmem245 T C 4: 56,899,119 Y269C probably damaging Het
Txndc2 A G 17: 65,637,976 I402T possibly damaging Het
Ube4b A G 4: 149,387,079 probably null Het
Usp28 T A 9: 49,037,769 Y863N possibly damaging Het
Vmn2r69 T C 7: 85,409,752 I534V probably benign Het
Wdr89 A T 12: 75,632,969 D170E probably damaging Het
Zfp280d C A 9: 72,301,711 N74K probably damaging Het
Zfp518a G A 19: 40,914,617 G997R probably damaging 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
IGL02794:Gorasp2 APN 2 70679494 nonsense probably null
IGL03132:Gorasp2 APN 2 70684035 missense probably benign 0.24
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 On2015-04-16