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)
|
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
Domain | Start | End | E-Value | Type |
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 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |