Incidental Mutation 'IGL01135:Gdi2'
ID 52602
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gdi2
Ensembl Gene ENSMUSG00000021218
Gene Name GDP dissociation inhibitor 2
Synonyms GDI beta, GDIB, Gdi3, GDI-B
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01135
Quality Score
Chromosome 13
Chromosomal Location 3588075-3616261 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 3598855 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059515] [ENSMUST00000222365] [ENSMUST00000223396]
AlphaFold Q61598
Predicted Effect probably benign
Transcript: ENSMUST00000059515
SMART Domains Protein: ENSMUSP00000062996
Gene: ENSMUSG00000021218

Pfam:GDI 1 436 4.6e-239 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221348
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221575
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221875
Predicted Effect probably benign
Transcript: ENSMUST00000222365
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222906
Predicted Effect probably benign
Transcript: ENSMUST00000223396
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GDP dissociation inhibitors are proteins that regulate the GDP-GTP exchange reaction of members of the rab family, small GTP-binding proteins of the ras superfamily, that are involved in vesicular trafficking of molecules between cellular organelles. GDIs slow the rate of dissociation of GDP from rab proteins and release GDP from membrane-bound rabs. GDI2 is ubiquitously expressed. The GDI2 gene contains many repetitive elements indicating that it may be prone to inversion/deletion rearrangements. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
5730507C01Rik G A 12: 18,583,375 (GRCm39) R145H possibly damaging Het
Acox3 T A 5: 35,746,096 (GRCm39) V93E probably benign Het
Ankar T C 1: 72,704,378 (GRCm39) N848S probably benign Het
Blzf1 A G 1: 164,131,499 (GRCm39) probably benign Het
Cc2d1a G T 8: 84,870,033 (GRCm39) H161N probably benign Het
Ceacam23 A T 7: 17,636,396 (GRCm39) noncoding transcript Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Ckmt1 A C 2: 121,191,631 (GRCm39) D267A probably damaging Het
Dtl G T 1: 191,280,442 (GRCm39) T364K probably damaging Het
Fat1 T A 8: 45,477,877 (GRCm39) F2308I probably damaging Het
Fbxo41 A T 6: 85,454,890 (GRCm39) S673T probably benign Het
Flnb G A 14: 7,909,736 (GRCm38) V1397I probably benign Het
Grik3 C T 4: 125,526,208 (GRCm39) T147I probably benign Het
Htr1a T C 13: 105,581,792 (GRCm39) V344A possibly damaging Het
Isg20l2 A T 3: 87,839,068 (GRCm39) D93V probably damaging Het
Kcnt2 T C 1: 140,282,293 (GRCm39) probably null Het
Mfsd4b3-ps A G 10: 39,824,068 (GRCm39) M64T probably benign Het
Nox3 T A 17: 3,746,527 (GRCm39) probably benign Het
Or2ag12 C T 7: 106,277,400 (GRCm39) A98T probably benign Het
Pikfyve T A 1: 65,290,794 (GRCm39) N1204K probably damaging Het
Pou4f3 C T 18: 42,529,031 (GRCm39) Q325* probably null Het
Rap1a T A 3: 105,639,351 (GRCm39) T103S probably benign Het
Rfc4 G A 16: 22,934,526 (GRCm39) R165C probably damaging Het
Smtnl1 A G 2: 84,649,231 (GRCm39) S8P probably benign Het
Syt17 C T 7: 117,981,270 (GRCm39) G351S possibly damaging Het
Tcf20 T A 15: 82,738,101 (GRCm39) M1117L probably benign Het
Tent5a A G 9: 85,208,652 (GRCm39) V57A probably damaging Het
Tgfbr3 A T 5: 107,362,894 (GRCm39) H39Q probably damaging Het
Trdmt1 T C 2: 13,526,071 (GRCm39) probably null Het
Twf2 A G 9: 106,090,027 (GRCm39) I127V probably benign Het
Unc13c A G 9: 73,392,175 (GRCm39) V2059A probably damaging Het
Other mutations in Gdi2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00954:Gdi2 APN 13 3,606,467 (GRCm39) missense probably benign 0.04
IGL01402:Gdi2 APN 13 3,614,611 (GRCm39) missense probably benign 0.24
IGL01404:Gdi2 APN 13 3,614,611 (GRCm39) missense probably benign 0.24
IGL02100:Gdi2 APN 13 3,606,373 (GRCm39) missense probably benign 0.03
IGL02305:Gdi2 APN 13 3,606,428 (GRCm39) missense probably damaging 1.00
IGL02545:Gdi2 APN 13 3,607,009 (GRCm39) missense probably damaging 1.00
IGL02561:Gdi2 APN 13 3,598,954 (GRCm39) missense possibly damaging 0.94
IGL02939:Gdi2 APN 13 3,614,623 (GRCm39) missense probably benign 0.21
E0354:Gdi2 UTSW 13 3,611,939 (GRCm39) splice site probably null
R1612:Gdi2 UTSW 13 3,610,051 (GRCm39) missense probably benign 0.00
R1775:Gdi2 UTSW 13 3,610,018 (GRCm39) missense possibly damaging 0.71
R1803:Gdi2 UTSW 13 3,614,547 (GRCm39) nonsense probably null
R2254:Gdi2 UTSW 13 3,604,400 (GRCm39) splice site probably null
R2426:Gdi2 UTSW 13 3,612,034 (GRCm39) missense probably benign 0.17
R4081:Gdi2 UTSW 13 3,598,866 (GRCm39) missense probably benign 0.10
R6365:Gdi2 UTSW 13 3,615,093 (GRCm39) missense possibly damaging 0.82
R7130:Gdi2 UTSW 13 3,598,891 (GRCm39) missense probably benign 0.12
R7268:Gdi2 UTSW 13 3,606,363 (GRCm39) nonsense probably null
R7349:Gdi2 UTSW 13 3,606,395 (GRCm39) missense probably benign 0.16
R7590:Gdi2 UTSW 13 3,614,611 (GRCm39) missense probably benign 0.24
R7753:Gdi2 UTSW 13 3,598,956 (GRCm39) missense probably benign 0.01
R8114:Gdi2 UTSW 13 3,598,906 (GRCm39) missense probably damaging 1.00
R9375:Gdi2 UTSW 13 3,614,869 (GRCm39) missense probably benign 0.34
R9731:Gdi2 UTSW 13 3,588,299 (GRCm39) start codon destroyed probably null 0.06
Posted On 2013-06-21