Incidental Mutation 'R1612:Gdi2'
ID 176887
Institutional Source Beutler Lab
Gene Symbol Gdi2
Ensembl Gene ENSMUSG00000021218
Gene Name GDP dissociation inhibitor 2
Synonyms GDI beta, GDIB, Gdi3, GDI-B
MMRRC Submission 039649-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1612 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 3588075-3616261 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 3610051 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 260 (V260E)
Ref Sequence ENSEMBL: ENSMUSP00000152454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059515] [ENSMUST00000222365] [ENSMUST00000223396]
AlphaFold Q61598
Predicted Effect probably benign
Transcript: ENSMUST00000059515
AA Change: V224E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000062996
Gene: ENSMUSG00000021218
AA Change: V224E

DomainStartEndE-ValueType
Pfam:GDI 1 436 4.6e-239 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000221581
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221875
Predicted Effect probably benign
Transcript: ENSMUST00000222365
AA Change: V250E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223046
Predicted Effect probably benign
Transcript: ENSMUST00000223396
AA Change: V260E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223501
Meta Mutation Damage Score 0.0702 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency 97% (69/71)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579G24Rik A G 3: 79,538,451 (GRCm39) T66A probably benign Het
Actb A G 5: 142,891,350 (GRCm39) F31S probably damaging Het
Adamts7 T C 9: 90,070,750 (GRCm39) S624P possibly damaging Het
Adh7 T C 3: 137,934,642 (GRCm39) I355T possibly damaging Het
Arhgef40 A G 14: 52,241,538 (GRCm39) E106G probably damaging Het
Brd10 A G 19: 29,695,245 (GRCm39) V1483A possibly damaging Het
Cabp7 T C 11: 4,689,198 (GRCm39) D149G probably damaging Het
Cass4 A T 2: 172,268,998 (GRCm39) Q362L possibly damaging Het
Cd14 G A 18: 36,858,718 (GRCm39) Q246* probably null Het
Cdr2l A C 11: 115,284,232 (GRCm39) E189D probably benign Het
Col6a6 A G 9: 105,654,748 (GRCm39) V991A probably damaging Het
Coq7 A G 7: 118,109,134 (GRCm39) W305R unknown Het
Cracr2a G T 6: 127,580,892 (GRCm39) G23* probably null Het
Dclk2 C T 3: 86,712,946 (GRCm39) R503Q possibly damaging Het
Epcam T C 17: 87,947,366 (GRCm39) L40P possibly damaging Het
Eps8 G A 6: 137,477,616 (GRCm39) P531S probably benign Het
Faap100 C A 11: 120,267,914 (GRCm39) L286F probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fbn2 A T 18: 58,194,824 (GRCm39) C1446S probably damaging Het
Fmo3 A G 1: 162,795,454 (GRCm39) V127A probably damaging Het
Frem3 A G 8: 81,341,490 (GRCm39) D1261G probably damaging Het
Gabbr1 A G 17: 37,381,561 (GRCm39) Y775C probably damaging Het
Gbp11 G T 5: 105,474,462 (GRCm39) Q405K possibly damaging Het
Glp2r C T 11: 67,633,033 (GRCm39) V98M possibly damaging Het
Gm13741 T C 2: 87,486,431 (GRCm39) Y278C probably damaging Het
Gm7732 G A 17: 21,350,177 (GRCm39) noncoding transcript Het
Gnptab T A 10: 88,264,344 (GRCm39) probably null Het
Hbs1l T G 10: 21,234,734 (GRCm39) F596V probably damaging Het
Krt78 A T 15: 101,860,279 (GRCm39) probably null Het
Krt87 A T 15: 101,386,092 (GRCm39) L223Q probably benign Het
Lcmt2 T C 2: 120,969,601 (GRCm39) Y274C probably damaging Het
Limd1 A G 9: 123,347,219 (GRCm39) Y620C probably damaging Het
Lvrn G T 18: 47,027,770 (GRCm39) A862S probably damaging Het
Map4k2 A G 19: 6,393,371 (GRCm39) E206G probably damaging Het
Med16 A G 10: 79,735,079 (GRCm39) S461P probably damaging Het
Mrfap1 C A 5: 36,953,706 (GRCm39) A78S probably damaging Het
Nav2 T A 7: 49,220,959 (GRCm39) N1715K probably damaging Het
Ndc1 A G 4: 107,252,265 (GRCm39) probably benign Het
Ngly1 G T 14: 16,290,867 (GRCm38) G450* probably null Het
Or13c25 T A 4: 52,911,501 (GRCm39) M98L probably benign Het
Or5k3 T C 16: 58,969,987 (GRCm39) M258T probably benign Het
Pde3b T A 7: 114,118,791 (GRCm39) Y643* probably null Het
Pdilt T G 7: 119,086,198 (GRCm39) N506H possibly damaging Het
Pear1 C T 3: 87,659,160 (GRCm39) probably null Het
Pfkp A T 13: 6,638,625 (GRCm39) M582K probably damaging Het
Pigl T A 11: 62,403,820 (GRCm39) F251I probably benign Het
Plk3 A G 4: 116,989,004 (GRCm39) Y252H probably damaging Het
Prdx3 A G 19: 60,862,872 (GRCm39) S12P possibly damaging Het
Prkag2 T C 5: 25,082,026 (GRCm39) I96V probably benign Het
Pwwp3a T A 10: 80,068,889 (GRCm39) probably benign Het
Rgs3 G A 4: 62,544,172 (GRCm39) V146M probably damaging Het
Serpinh1 T C 7: 98,998,138 (GRCm39) D164G probably damaging Het
Slc35d2 T C 13: 64,259,324 (GRCm39) probably benign Het
Slc6a6 A G 6: 91,718,008 (GRCm39) N316D probably damaging Het
Snx14 A T 9: 88,258,958 (GRCm39) M973K possibly damaging Het
Sptan1 C G 2: 29,893,348 (GRCm39) R1126G probably damaging Het
Stpg3 T C 2: 25,103,866 (GRCm39) T157A probably benign Het
Tmem39b A T 4: 129,580,715 (GRCm39) M259K possibly damaging Het
Tomm40l A T 1: 171,049,471 (GRCm39) probably null Het
Tsen34 G T 7: 3,698,395 (GRCm39) G180W probably damaging Het
Ube2l6 C T 2: 84,636,717 (GRCm39) R54W probably damaging Het
Vdac1 A T 11: 52,274,897 (GRCm39) T182S probably benign Het
Wdr3 T C 3: 100,058,515 (GRCm39) probably benign Het
Wsb1 T A 11: 79,139,411 (GRCm39) Q95L probably benign 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
E0354:Gdi2 UTSW 13 3,611,939 (GRCm39) splice site probably null
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'- ATCCTGTTTGTTTATGGCCCACTACC -3'
(R):5'- GCAGGGAGTAGTATGGCACAGCA -3'

Sequencing Primer
(F):5'- ggaggcagagacaggtgg -3'
(R):5'- CCCAGAGAGCACACATGTGTAT -3'
Posted On 2014-04-24