Incidental Mutation 'E0354:Gdi2'
ID 233300
Institutional Source Beutler Lab
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 # E0354 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 3588075-3616261 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 3611939 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000059515] [ENSMUST00000096069] [ENSMUST00000222365] [ENSMUST00000223396]
AlphaFold Q61598
Predicted Effect probably benign
Transcript: ENSMUST00000059515
AA Change: I262N

PolyPhen 2 Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000062996
Gene: ENSMUSG00000021218
AA Change: I262N

DomainStartEndE-ValueType
Pfam:GDI 1 436 4.6e-239 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000096069
SMART Domains Protein: ENSMUSP00000093774
Gene: ENSMUSG00000033799

DomainStartEndE-ValueType
Pfam:DUF3699 91 167 1.4e-24 PFAM
low complexity region 272 282 N/A INTRINSIC
low complexity region 447 459 N/A INTRINSIC
Pfam:DUF3715 533 695 2.3e-25 PFAM
low complexity region 1156 1168 N/A INTRINSIC
low complexity region 1196 1207 N/A INTRINSIC
low complexity region 1312 1330 N/A INTRINSIC
low complexity region 2012 2021 N/A INTRINSIC
low complexity region 2250 2263 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000221581
Predicted Effect probably null
Transcript: ENSMUST00000221581
Predicted Effect probably null
Transcript: ENSMUST00000221581
Predicted Effect probably null
Transcript: ENSMUST00000221581
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221875
Predicted Effect probably damaging
Transcript: ENSMUST00000222365
AA Change: I288N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222615
Predicted Effect probably benign
Transcript: ENSMUST00000222909
Predicted Effect probably damaging
Transcript: ENSMUST00000223396
AA Change: I298N

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223046
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223501
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
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: 10 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500011B03Rik G T 5: 114,951,241 (GRCm39) N53K possibly damaging Het
Dync1li2 T C 8: 105,152,099 (GRCm39) D358G probably damaging Het
Gabra4 C G 5: 71,798,204 (GRCm39) D208H probably damaging Het
Gata5 GCCC GCC 2: 179,975,758 (GRCm39) probably null Het
Hdac5 TTCCTCCTCCTCCTCCTCCTCCTCCTC TTCCTCCTCCTCCTCCTCCTCCTC 11: 102,092,972 (GRCm39) probably benign Het
Tlr3 A T 8: 45,853,857 (GRCm39) D154E probably damaging Het
Trap1 G T 16: 3,883,152 (GRCm39) P141Q probably benign Het
Trav8d-2 T A 14: 53,280,051 (GRCm39) probably benign Het
Trim9 G A 12: 70,319,233 (GRCm39) P412S probably benign Het
Zfp827 A G 8: 79,863,206 (GRCm39) D763G probably damaging Het
Other mutations in Gdi2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00954:Gdi2 APN 13 3,606,467 (GRCm39) missense probably benign 0.04
IGL01135:Gdi2 APN 13 3,598,855 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- AAATTTGCCATGTCCCAGAACTG -3'
(R):5'- TCACAACAAGGTCTCTAGTACAG -3'

Sequencing Primer
(F):5'- TGTGTGCCAATACCAGGTAC -3'
(R):5'- CTCTAGTACAGAGTAAAGGCAGG -3'
Posted On 2014-10-01