Incidental Mutation 'R0356:Drg2'
ID 29834
Institutional Source Beutler Lab
Gene Symbol Drg2
Ensembl Gene ENSMUSG00000020537
Gene Name developmentally regulated GTP binding protein 2
Synonyms
MMRRC Submission 038562-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.939) question?
Stock # R0356 (G1)
Quality Score 181
Status Validated
Chromosome 11
Chromosomal Location 60345442-60359589 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 60352407 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 203 (V203E)
Ref Sequence ENSEMBL: ENSMUSP00000018568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018568]
AlphaFold Q9QXB9
Predicted Effect probably damaging
Transcript: ENSMUST00000018568
AA Change: V203E

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000018568
Gene: ENSMUSG00000020537
AA Change: V203E

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
Pfam:FeoB_N 63 169 1.4e-10 PFAM
Pfam:MMR_HSR1 64 180 1.5e-19 PFAM
Pfam:MMR_HSR1_Xtn 184 289 9.6e-50 PFAM
Pfam:TGS 290 363 2.3e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136484
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138713
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147745
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155731
Meta Mutation Damage Score 0.7562 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.6%
  • 10x: 94.4%
  • 20x: 86.1%
Validation Efficiency 100% (47/47)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a GTP-binding protein known to function in the regulation of cell growth and differentiation. Read-through transcripts containing this gene and a downstream gene have been identified, but they are not thought to encode a fusion protein. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jan 2012]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430097D07Rik T C 2: 32,464,418 (GRCm39) probably benign Het
Adgrg6 C T 10: 14,302,642 (GRCm39) V924M possibly damaging Het
Anxa9 A G 3: 95,215,387 (GRCm39) probably benign Het
Ap3d1 G T 10: 80,563,812 (GRCm39) S122R probably damaging Het
Arhgap5 T C 12: 52,563,091 (GRCm39) S21P probably damaging Het
Atp13a5 A G 16: 29,167,573 (GRCm39) probably benign Het
AU040320 A T 4: 126,731,155 (GRCm39) D618V probably damaging Het
Cbfa2t2 T A 2: 154,373,269 (GRCm39) D475E probably benign Het
Ccdc202 T A 14: 96,119,801 (GRCm39) V186E possibly damaging Het
Ccdc62 G A 5: 124,092,811 (GRCm39) V599I probably benign Het
Cenpj T C 14: 56,786,953 (GRCm39) E917G probably damaging Het
Cog5 T C 12: 31,887,180 (GRCm39) probably benign Het
Col9a1 T A 1: 24,224,328 (GRCm39) L170* probably null Het
Daxx T A 17: 34,132,867 (GRCm39) V627D probably benign Het
Dnah9 A G 11: 66,021,388 (GRCm39) probably null Het
Fbxl17 G A 17: 63,663,846 (GRCm39) R67C probably damaging Het
Fer1l4 T C 2: 155,865,930 (GRCm39) Y1586C probably damaging Het
Gp6 A T 7: 4,373,141 (GRCm39) probably benign Het
Hhip T C 8: 80,724,121 (GRCm39) I374V probably benign Het
Hspa12b G T 2: 130,986,719 (GRCm39) V547L possibly damaging Het
Iars1 G A 13: 49,856,709 (GRCm39) V321I probably benign Het
Itga8 T C 2: 12,187,532 (GRCm39) M716V possibly damaging Het
Lcn5 T C 2: 25,550,705 (GRCm39) I131T probably damaging Het
Mki67 G A 7: 135,306,135 (GRCm39) T614M probably benign Het
Mmp3 G A 9: 7,451,768 (GRCm39) E369K probably benign Het
Myt1l A G 12: 29,861,500 (GRCm39) D94G unknown Het
Neil1 T C 9: 57,054,180 (GRCm39) I47V possibly damaging Het
Nr5a2 T C 1: 136,773,430 (GRCm39) N424S possibly damaging Het
Or1e21 A T 11: 73,344,906 (GRCm39) I44N possibly damaging Het
Or51f5 A T 7: 102,424,286 (GRCm39) D185V probably damaging Het
Or5b120 A G 19: 13,480,441 (GRCm39) T245A possibly damaging Het
Or7e166 G T 9: 19,624,743 (GRCm39) G207C probably damaging Het
Pakap C A 4: 57,855,628 (GRCm39) T360K possibly damaging Het
Pde8b G T 13: 95,182,962 (GRCm39) N265K probably damaging Het
Prpf40b T C 15: 99,203,080 (GRCm39) probably null Het
Samd9l T C 6: 3,375,107 (GRCm39) D718G possibly damaging Het
Sirpb1c T C 3: 15,887,309 (GRCm39) N175D possibly damaging Het
Srgap1 A T 10: 121,691,441 (GRCm39) probably null Het
Tgm5 T A 2: 120,884,055 (GRCm39) T313S probably damaging Het
Tigar A G 6: 127,068,145 (GRCm39) probably null Het
Tmprss11b A G 5: 86,808,326 (GRCm39) *417Q probably null Het
Trim32 G A 4: 65,531,491 (GRCm39) R16Q probably damaging Het
Ttll11 T C 2: 35,792,688 (GRCm39) D385G possibly damaging Het
Zfp426 T C 9: 20,382,541 (GRCm39) T135A probably benign Het
Other mutations in Drg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03019:Drg2 APN 11 60,347,421 (GRCm39) missense probably damaging 1.00
R1483:Drg2 UTSW 11 60,350,353 (GRCm39) missense probably damaging 1.00
R1501:Drg2 UTSW 11 60,355,679 (GRCm39) missense probably benign 0.00
R2517:Drg2 UTSW 11 60,358,954 (GRCm39) missense probably damaging 0.96
R3434:Drg2 UTSW 11 60,352,218 (GRCm39) nonsense probably null
R3824:Drg2 UTSW 11 60,350,334 (GRCm39) missense possibly damaging 0.85
R3825:Drg2 UTSW 11 60,350,334 (GRCm39) missense possibly damaging 0.85
R3898:Drg2 UTSW 11 60,347,460 (GRCm39) missense probably benign
R4418:Drg2 UTSW 11 60,358,972 (GRCm39) missense probably damaging 1.00
R4732:Drg2 UTSW 11 60,352,222 (GRCm39) critical splice donor site probably null
R4733:Drg2 UTSW 11 60,352,222 (GRCm39) critical splice donor site probably null
R4953:Drg2 UTSW 11 60,350,262 (GRCm39) splice site probably benign
R5492:Drg2 UTSW 11 60,352,422 (GRCm39) missense probably damaging 0.99
R6007:Drg2 UTSW 11 60,353,451 (GRCm39) missense possibly damaging 0.55
R7282:Drg2 UTSW 11 60,345,519 (GRCm39) missense probably benign 0.30
R7417:Drg2 UTSW 11 60,345,506 (GRCm39) start codon destroyed probably null 0.77
R7697:Drg2 UTSW 11 60,353,003 (GRCm39) missense probably damaging 0.98
R7822:Drg2 UTSW 11 60,353,026 (GRCm39) nonsense probably null
R7911:Drg2 UTSW 11 60,355,001 (GRCm39) missense possibly damaging 0.83
R8094:Drg2 UTSW 11 60,353,096 (GRCm39) missense probably damaging 1.00
R9383:Drg2 UTSW 11 60,350,287 (GRCm39) missense probably benign 0.38
R9435:Drg2 UTSW 11 60,358,966 (GRCm39) missense probably benign 0.10
R9784:Drg2 UTSW 11 60,358,548 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- AGGTATGCTCTCACACTCTACCCAG -3'
(R):5'- GGCTTCTTCTCCAAGCCAGAGAAC -3'

Sequencing Primer
(F):5'- ACACTCTACCCAGGGGCAG -3'
(R):5'- ACATAGTTCTCAGGACAGTTGCC -3'
Posted On 2013-04-24