Incidental Mutation 'IGL03019:Drg2'
ID |
407981 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Drg2
|
Ensembl Gene |
ENSMUSG00000020537 |
Gene Name |
developmentally regulated GTP binding protein 2 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.942)
|
Stock # |
IGL03019
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
60345442-60359589 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 60347421 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 37
(Y37H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000018568
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018568]
|
AlphaFold |
Q9QXB9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000018568
AA Change: Y37H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000018568 Gene: ENSMUSG00000020537 AA Change: Y37H
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ackr2 |
T |
A |
9: 121,738,248 (GRCm39) |
Y208N |
probably benign |
Het |
Agap2 |
T |
C |
10: 126,927,431 (GRCm39) |
|
probably benign |
Het |
Arhgap21 |
A |
T |
2: 20,865,874 (GRCm39) |
I914N |
probably damaging |
Het |
Brsk1 |
T |
C |
7: 4,713,496 (GRCm39) |
|
probably benign |
Het |
Cachd1 |
A |
T |
4: 100,809,282 (GRCm39) |
T256S |
probably damaging |
Het |
Ccdc171 |
G |
T |
4: 83,713,545 (GRCm39) |
G1195W |
probably damaging |
Het |
Cept1 |
A |
G |
3: 106,411,957 (GRCm39) |
M339T |
probably damaging |
Het |
Cir1 |
T |
C |
2: 73,116,692 (GRCm39) |
K223E |
unknown |
Het |
Cited2 |
A |
T |
10: 17,599,910 (GRCm39) |
M73L |
probably benign |
Het |
Drosha |
T |
C |
15: 12,846,185 (GRCm39) |
L440P |
probably damaging |
Het |
Dsc1 |
G |
A |
18: 20,221,421 (GRCm39) |
P685S |
probably benign |
Het |
Epha1 |
T |
A |
6: 42,339,686 (GRCm39) |
D639V |
probably damaging |
Het |
Inka2 |
G |
T |
3: 105,623,687 (GRCm39) |
M1I |
probably null |
Het |
Izumo4 |
A |
G |
10: 80,539,680 (GRCm39) |
|
probably benign |
Het |
Kcnmb2 |
A |
T |
3: 32,252,299 (GRCm39) |
R167W |
probably damaging |
Het |
Lce1k |
A |
C |
3: 92,714,086 (GRCm39) |
C33G |
unknown |
Het |
Map7 |
C |
T |
10: 20,143,101 (GRCm39) |
P417S |
unknown |
Het |
Myo18b |
A |
G |
5: 112,840,263 (GRCm39) |
V2510A |
probably benign |
Het |
Rubcn |
A |
T |
16: 32,647,077 (GRCm39) |
V787D |
probably damaging |
Het |
Spen |
A |
T |
4: 141,206,227 (GRCm39) |
L800Q |
unknown |
Het |
Zfp276 |
C |
A |
8: 123,994,673 (GRCm39) |
T580N |
probably damaging |
Het |
Zfp354c |
G |
T |
11: 50,708,021 (GRCm39) |
P60T |
probably damaging |
Het |
|
Other mutations in Drg2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
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 |
|
Posted On |
2016-08-02 |