Incidental Mutation 'R3824:Drg2'
ID 275292
Institutional Source Beutler Lab
Gene Symbol Drg2
Ensembl Gene ENSMUSG00000020537
Gene Name developmentally regulated GTP binding protein 2
Synonyms
MMRRC Submission 040885-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.939) question?
Stock # R3824 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 60345442-60359589 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 60350334 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 98 (T98A)
Ref Sequence ENSEMBL: ENSMUSP00000018568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018568]
AlphaFold Q9QXB9
Predicted Effect possibly damaging
Transcript: ENSMUST00000018568
AA Change: T98A

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000018568
Gene: ENSMUSG00000020537
AA Change: T98A

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 0.5149 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 95% (62/65)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik T C 17: 35,878,508 (GRCm39) C20R probably benign Het
6030468B19Rik A G 11: 117,693,739 (GRCm39) K69E probably damaging Het
9430015G10Rik T A 4: 156,203,607 (GRCm39) probably null Het
A2ml1 A G 6: 128,545,726 (GRCm39) V467A probably damaging Het
Abcc3 T C 11: 94,259,446 (GRCm39) probably null Het
Acad10 A T 5: 121,760,881 (GRCm39) M941K probably benign Het
Agrn A G 4: 156,253,759 (GRCm39) L1649P probably damaging Het
Arhgap12 T C 18: 6,061,930 (GRCm39) R402G possibly damaging Het
Atp4b T C 8: 13,443,549 (GRCm39) Y43C probably damaging Het
Btn2a2 T A 13: 23,664,635 (GRCm39) T308S probably benign Het
C8b G T 4: 104,640,206 (GRCm39) A170S probably benign Het
Cabyr T A 18: 12,884,747 (GRCm39) D411E probably benign Het
Capn3 T C 2: 120,314,964 (GRCm39) probably benign Het
Cd200r4 T C 16: 44,641,313 (GRCm39) F19L probably benign Het
Cflar T A 1: 58,774,856 (GRCm39) Y218N probably benign Het
Col11a2 T C 17: 34,273,154 (GRCm39) Y630H probably damaging Het
Coq6 T C 12: 84,419,189 (GRCm39) probably benign Het
Fry T A 5: 150,419,884 (GRCm39) S1015R possibly damaging Het
Gjb4 A G 4: 127,245,222 (GRCm39) S240P probably benign Het
Glmp G A 3: 88,233,718 (GRCm39) V107I probably damaging Het
Gls A C 1: 52,272,147 (GRCm39) M2R possibly damaging Het
Igfbp4 A G 11: 98,939,061 (GRCm39) E27G probably damaging Het
Ints8 A T 4: 11,225,621 (GRCm39) Y645* probably null Het
Kat6a G T 8: 23,352,380 (GRCm39) V55F probably damaging Het
Kat8 T A 7: 127,523,654 (GRCm39) D292E possibly damaging Het
Myo19 T A 11: 84,776,505 (GRCm39) C54S probably damaging Het
Myo5b C T 18: 74,794,726 (GRCm39) H532Y probably benign Het
Nckap1 T C 2: 80,370,904 (GRCm39) K357E possibly damaging Het
Ndufaf1 C T 2: 119,490,752 (GRCm39) V105M probably benign Het
Or2o1 A G 11: 49,051,620 (GRCm39) S260G possibly damaging Het
Or8b101 A T 9: 38,020,134 (GRCm39) I51F possibly damaging Het
Or8b1b T A 9: 38,375,822 (GRCm39) C162S probably benign Het
Or8c17 T G 9: 38,179,814 (GRCm39) S2A probably benign Het
Or8k30 T G 2: 86,339,367 (GRCm39) L188R possibly damaging Het
Palld T C 8: 62,162,067 (GRCm39) D439G probably damaging Het
Pcf11 T C 7: 92,308,828 (GRCm39) probably benign Het
Pigo A T 4: 43,020,909 (GRCm39) W678R possibly damaging Het
Pip5kl1 A T 2: 32,473,283 (GRCm39) probably null Het
Plscr3 G A 11: 69,740,964 (GRCm39) V267M probably benign Het
Pramel24 A T 4: 143,453,255 (GRCm39) H121L probably benign Het
Prom2 A G 2: 127,377,593 (GRCm39) probably benign Het
Ptk7 A G 17: 46,876,304 (GRCm39) I1049T probably damaging Het
Ptprb A T 10: 116,186,694 (GRCm39) I1743F probably benign Het
Ptprm A G 17: 67,116,570 (GRCm39) V894A probably benign Het
Rack1 A G 11: 48,693,131 (GRCm39) T105A probably benign Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Sdk1 A G 5: 141,921,804 (GRCm39) T267A probably benign Het
Slco1a7 T C 6: 141,700,100 (GRCm39) Q144R possibly damaging Het
Sorcs3 T A 19: 48,711,395 (GRCm39) D653E probably damaging Het
Spata31e3 G A 13: 50,399,548 (GRCm39) S926F possibly damaging Het
Spata31f3 A G 4: 42,873,492 (GRCm39) probably null Het
St8sia1 A G 6: 142,774,751 (GRCm39) L276P probably damaging Het
Sync T C 4: 129,188,156 (GRCm39) V396A possibly damaging Het
Taok3 A G 5: 117,394,002 (GRCm39) T592A probably benign Het
Tas2r104 T A 6: 131,662,002 (GRCm39) I236F possibly damaging Het
Tas2r107 A C 6: 131,636,293 (GRCm39) I252S probably benign Het
Tmem259 T C 10: 79,814,282 (GRCm39) N334S possibly damaging Het
Tsga10 A T 1: 37,873,278 (GRCm39) N200K possibly damaging Het
Usp24 G A 4: 106,236,263 (GRCm39) V984I probably benign Het
Vmn1r189 T A 13: 22,286,382 (GRCm39) T152S probably benign Het
Vmn1r2 A T 4: 3,172,413 (GRCm39) T111S probably damaging Het
Vmn2r74 T G 7: 85,607,466 (GRCm39) N86H probably damaging Het
Zfp12 T C 5: 143,226,077 (GRCm39) V72A probably benign Het
Other mutations in Drg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03019:Drg2 APN 11 60,347,421 (GRCm39) missense probably damaging 1.00
R0356:Drg2 UTSW 11 60,352,407 (GRCm39) missense probably damaging 0.97
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
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'- ACTCTGTACACTCGGCCAAG -3'
(R):5'- GATCTACTGGGACAAGTGAGGTC -3'

Sequencing Primer
(F):5'- CTCAATCTAAGGTCAAGGAAGGCTC -3'
(R):5'- CAAGTGAGGTCAGCCAGGTACTTC -3'
Posted On 2015-04-02