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 |
Incidental Mutation