Incidental Mutation 'R5492:Drg2'
| ID |
432134 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Drg2
|
| Ensembl Gene |
ENSMUSG00000020537 |
| Gene Name |
developmentally regulated GTP binding protein 2 |
| Synonyms |
|
| MMRRC Submission |
043053-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.939)
|
| Stock # |
R5492 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
60345442-60359589 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 60352422 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Proline
at position 208
(H208P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018568
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018568]
|
| AlphaFold |
Q9QXB9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018568
AA Change: H208P
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000018568
Gene: ENSMUSG00000020537
AA Change: H208P
| 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 |
- 1x: 98.2%
- 3x: 97.1%
- 10x: 94.5%
- 20x: 89.3%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
C |
T |
1: 11,615,431 (GRCm39) |
R135C |
probably damaging |
Het |
| Abcd2 |
A |
G |
15: 91,073,176 (GRCm39) |
Y328H |
probably benign |
Het |
| Abcg4 |
T |
C |
9: 44,189,355 (GRCm39) |
T381A |
probably benign |
Het |
| Adamts12 |
A |
G |
15: 11,336,384 (GRCm39) |
N1490D |
probably benign |
Het |
| Aldh18a1 |
C |
T |
19: 40,539,734 (GRCm39) |
R747Q |
probably damaging |
Het |
| Armc8 |
G |
T |
9: 99,409,184 (GRCm39) |
C169* |
probably null |
Het |
| Birc6 |
A |
C |
17: 74,977,369 (GRCm39) |
N4388T |
probably damaging |
Het |
| Bsn |
G |
A |
9: 107,989,714 (GRCm39) |
P2013S |
probably damaging |
Het |
| Cdc16 |
A |
G |
8: 13,813,915 (GRCm39) |
|
probably null |
Het |
| Cmtr1 |
T |
A |
17: 29,909,316 (GRCm39) |
F408L |
probably damaging |
Het |
| Col4a2 |
C |
T |
8: 11,488,608 (GRCm39) |
R1104W |
possibly damaging |
Het |
| Frem3 |
A |
T |
8: 81,339,306 (GRCm39) |
D533V |
probably damaging |
Het |
| Gm9930 |
T |
A |
10: 9,410,337 (GRCm39) |
|
noncoding transcript |
Het |
| Haus5 |
A |
G |
7: 30,358,380 (GRCm39) |
V305A |
possibly damaging |
Het |
| Hint3 |
C |
A |
10: 30,494,245 (GRCm39) |
R30L |
probably benign |
Het |
| Hltf |
T |
A |
3: 20,152,231 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
T |
A |
2: 31,310,318 (GRCm39) |
L3304Q |
probably benign |
Het |
| Hspa2 |
A |
G |
12: 76,451,308 (GRCm39) |
M1V |
probably null |
Het |
| Htr5b |
T |
C |
1: 121,455,387 (GRCm39) |
T178A |
possibly damaging |
Het |
| Ighv1-11 |
A |
G |
12: 114,576,084 (GRCm39) |
S44P |
probably damaging |
Het |
| Larp1b |
C |
T |
3: 40,924,334 (GRCm39) |
R104W |
probably damaging |
Het |
| Map3k2 |
A |
G |
18: 32,361,189 (GRCm39) |
T550A |
probably damaging |
Het |
| Map4 |
T |
A |
9: 109,881,450 (GRCm39) |
S105T |
possibly damaging |
Het |
| Mgam |
T |
C |
6: 40,733,297 (GRCm39) |
C691R |
probably damaging |
Het |
| Mms19 |
A |
G |
19: 41,944,270 (GRCm39) |
I310T |
possibly damaging |
Het |
| Myh2 |
A |
C |
11: 67,071,701 (GRCm39) |
K506T |
probably benign |
Het |
| Ngdn |
T |
C |
14: 55,260,509 (GRCm39) |
V239A |
probably benign |
Het |
| Plin1 |
G |
A |
7: 79,375,460 (GRCm39) |
R151* |
probably null |
Het |
| Rbpjl |
GCC |
GC |
2: 164,256,330 (GRCm39) |
|
probably null |
Het |
| Rdh16f2 |
G |
T |
10: 127,702,623 (GRCm39) |
E67* |
probably null |
Het |
| Slc25a36 |
A |
C |
9: 96,982,259 (GRCm39) |
C25W |
probably damaging |
Het |
| Stk31 |
G |
A |
6: 49,375,177 (GRCm39) |
A49T |
probably damaging |
Het |
| Tigar |
T |
A |
6: 127,066,167 (GRCm39) |
T124S |
possibly damaging |
Het |
| Tsn |
A |
G |
1: 118,232,443 (GRCm39) |
V144A |
probably damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
| Zfp943 |
T |
A |
17: 22,212,056 (GRCm39) |
C381S |
probably damaging |
Het |
| Zfyve19 |
A |
T |
2: 119,039,595 (GRCm39) |
|
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 |
|
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 |
|
|
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'- TTCGCCTGAACAAGCATAAGCC -3'
(R):5'- TTCTCAGGACAGTTGCCCAG -3'
Sequencing Primer
(F):5'- GCCCAACATCTATTTCAAGGTATGC -3'
(R):5'- AGGGCATTCTGTCTTTCTTCTAG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation