Incidental Mutation 'R3898:Drg2'
ID |
309066 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Drg2
|
Ensembl Gene |
ENSMUSG00000020537 |
Gene Name |
developmentally regulated GTP binding protein 2 |
Synonyms |
|
MMRRC Submission |
040906-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.939)
|
Stock # |
R3898 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
60345442-60359589 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 60347460 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 50
(S50T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000018568
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018568]
|
AlphaFold |
Q9QXB9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000018568
AA Change: S50T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000018568 Gene: ENSMUSG00000020537 AA Change: S50T
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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alg1 |
A |
C |
16: 5,054,253 (GRCm39) |
I154L |
possibly damaging |
Het |
Ankra2 |
C |
T |
13: 98,410,317 (GRCm39) |
L136F |
probably benign |
Het |
Anpep |
A |
G |
7: 79,488,973 (GRCm39) |
S372P |
probably benign |
Het |
Cabyr |
T |
C |
18: 12,884,580 (GRCm39) |
S356P |
probably benign |
Het |
Cad |
G |
T |
5: 31,231,366 (GRCm39) |
C1633F |
probably benign |
Het |
Cadps2 |
G |
A |
6: 23,528,125 (GRCm39) |
R425W |
probably damaging |
Het |
Ccdc180 |
A |
G |
4: 45,912,799 (GRCm39) |
K593E |
possibly damaging |
Het |
Cdh8 |
T |
A |
8: 99,898,005 (GRCm39) |
E436V |
probably damaging |
Het |
Cfap95 |
A |
G |
19: 23,570,466 (GRCm39) |
V101A |
probably benign |
Het |
Cln6 |
T |
G |
9: 62,757,934 (GRCm39) |
F231C |
probably damaging |
Het |
Cul2 |
A |
G |
18: 3,434,033 (GRCm39) |
K677E |
probably benign |
Het |
Cyp2c69 |
T |
C |
19: 39,864,834 (GRCm39) |
I215V |
probably benign |
Het |
Dhx36 |
T |
C |
3: 62,399,790 (GRCm39) |
D393G |
probably damaging |
Het |
Dnah7b |
T |
C |
1: 46,282,417 (GRCm39) |
V2850A |
probably damaging |
Het |
Dnah8 |
G |
A |
17: 31,073,872 (GRCm39) |
R4514H |
probably damaging |
Het |
Ecscr |
A |
G |
18: 35,846,705 (GRCm39) |
S230P |
possibly damaging |
Het |
Eif2ak4 |
T |
C |
2: 118,261,404 (GRCm39) |
V527A |
probably damaging |
Het |
Elfn1 |
G |
A |
5: 139,957,719 (GRCm39) |
R241H |
probably damaging |
Het |
Fchsd2 |
A |
G |
7: 100,841,006 (GRCm39) |
K172E |
possibly damaging |
Het |
Fli1 |
C |
T |
9: 32,388,018 (GRCm39) |
G24R |
possibly damaging |
Het |
Frmd3 |
A |
G |
4: 73,992,346 (GRCm39) |
D71G |
probably damaging |
Het |
Ggnbp1 |
A |
G |
17: 27,244,312 (GRCm39) |
|
probably benign |
Het |
Gpat2 |
T |
C |
2: 127,277,018 (GRCm39) |
F713S |
probably damaging |
Het |
H2-Q2 |
C |
T |
17: 35,561,743 (GRCm39) |
P78S |
probably damaging |
Het |
Kcnq2 |
C |
T |
2: 180,751,479 (GRCm39) |
A306T |
probably damaging |
Het |
Lmntd1 |
G |
A |
6: 145,359,152 (GRCm39) |
P333S |
probably benign |
Het |
Lrp1 |
G |
A |
10: 127,427,969 (GRCm39) |
R535* |
probably null |
Het |
Mmrn2 |
G |
T |
14: 34,121,517 (GRCm39) |
|
probably null |
Het |
Nlrp1a |
G |
A |
11: 71,013,700 (GRCm39) |
P517S |
probably benign |
Het |
Or2y13 |
A |
T |
11: 49,415,386 (GRCm39) |
I279F |
probably damaging |
Het |
Pou4f1 |
T |
C |
14: 104,703,165 (GRCm39) |
*422W |
probably null |
Het |
Ptpn14 |
C |
T |
1: 189,582,728 (GRCm39) |
P525L |
probably benign |
Het |
Pyroxd2 |
C |
A |
19: 42,728,831 (GRCm39) |
G190C |
probably damaging |
Het |
Rd3 |
T |
C |
1: 191,717,217 (GRCm39) |
V114A |
probably damaging |
Het |
Sptbn5 |
T |
C |
2: 119,887,691 (GRCm39) |
|
noncoding transcript |
Het |
Tbc1d5 |
A |
T |
17: 51,270,772 (GRCm39) |
F153Y |
probably damaging |
Het |
Thop1 |
G |
A |
10: 80,916,278 (GRCm39) |
G429S |
probably damaging |
Het |
Trim30d |
T |
A |
7: 104,132,736 (GRCm39) |
I184L |
probably benign |
Het |
Ubr5 |
T |
C |
15: 37,997,983 (GRCm39) |
S1727G |
probably benign |
Het |
Vezf1 |
T |
C |
11: 87,966,999 (GRCm39) |
F77L |
probably benign |
Het |
Vmn2r12 |
C |
T |
5: 109,238,370 (GRCm39) |
A457T |
probably benign |
Het |
Xirp1 |
A |
T |
9: 119,848,406 (GRCm39) |
M159K |
probably benign |
Het |
Zkscan17 |
C |
T |
11: 59,394,263 (GRCm39) |
A113T |
probably damaging |
Het |
Zyg11a |
T |
A |
4: 108,067,391 (GRCm39) |
N40Y |
probably damaging |
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 |
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'- TCTCAGCACTTGGCCCTATG -3'
(R):5'- GGAAGGCCAACTATTCCTGC -3'
Sequencing Primer
(F):5'- GAGACCCTGACACTTGTT -3'
(R):5'- GGCCAACTATTCCTGCTAAGG -3'
|
Posted On |
2015-04-17 |