Incidental Mutation 'IGL02874:Rasd2'
| ID |
362655 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rasd2
|
| Ensembl Gene |
ENSMUSG00000034472 |
| Gene Name |
RASD family, member 2 |
| Synonyms |
4930526B11Rik, TEM2, TEM-2, Rhes |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
IGL02874
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
75940572-75950741 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75945327 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 52
(I52T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118070
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000132133]
[ENSMUST00000139848]
|
| AlphaFold |
P63032 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000132133
AA Change: I52T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120717
Gene: ENSMUSG00000034472
AA Change: I52T
| Domain | Start | End | E-Value | Type |
|---|
|
RAS
|
17 |
193 |
6.46e-73 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000139848
AA Change: I52T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118070
Gene: ENSMUSG00000034472
AA Change: I52T
| Domain | Start | End | E-Value | Type |
|---|
|
RAS
|
17 |
193 |
6.46e-73 |
SMART |
|
| 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 belongs to the Ras superfamily of small GTPases and is enriched in the striatum. The encoded protein functions as an E3 ligase for attachment of small ubiquitin-like modifier (SUMO). This protein also binds to mutant huntingtin (mHtt), the protein mutated in Huntington disease (HD). Sumoylation of mHTT by this protein may cause degeneration of the striatum. The protein functions as an activator of mechanistic target of rapamycin 1 (mTOR1), which in turn plays a role in myelination, axon growth and regeneration. Reduced levels of mRNA expressed by this gene were found in HD patients. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-out allele display reduced body weight, impaired motor coordination, hypoactivity, and a gender-dependent increase in anxiety levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp8a2 |
A |
G |
14: 60,039,701 (GRCm39) |
Y876H |
probably damaging |
Het |
| Cfap65 |
G |
A |
1: 74,950,267 (GRCm39) |
Q1161* |
probably null |
Het |
| Chrd |
C |
T |
16: 20,553,946 (GRCm39) |
T282I |
probably damaging |
Het |
| Clasp1 |
T |
C |
1: 118,479,773 (GRCm39) |
S749P |
possibly damaging |
Het |
| Clec4a3 |
T |
A |
6: 122,944,519 (GRCm39) |
N188K |
probably benign |
Het |
| Dmpk |
A |
G |
7: 18,820,926 (GRCm39) |
M181V |
possibly damaging |
Het |
| Dnah7a |
A |
T |
1: 53,644,973 (GRCm39) |
M1021K |
possibly damaging |
Het |
| Exoc5 |
A |
T |
14: 49,288,903 (GRCm39) |
N48K |
probably benign |
Het |
| Golga1 |
A |
G |
2: 38,929,104 (GRCm39) |
L338P |
probably damaging |
Het |
| Hdc |
T |
A |
2: 126,443,596 (GRCm39) |
T334S |
probably benign |
Het |
| Idh2 |
A |
G |
7: 79,747,621 (GRCm39) |
S300P |
probably damaging |
Het |
| Igkv4-78 |
T |
C |
6: 69,037,190 (GRCm39) |
I7V |
probably benign |
Het |
| Impdh1 |
A |
T |
6: 29,203,155 (GRCm39) |
M389K |
probably damaging |
Het |
| Kcnd2 |
T |
A |
6: 21,216,922 (GRCm39) |
C209S |
probably damaging |
Het |
| Or11g25 |
G |
T |
14: 50,723,686 (GRCm39) |
C257F |
possibly damaging |
Het |
| Or4q3 |
A |
T |
14: 50,583,583 (GRCm39) |
H105Q |
probably damaging |
Het |
| Or56b2 |
C |
A |
7: 104,337,230 (GRCm39) |
Q3K |
probably benign |
Het |
| Ovol1 |
T |
C |
19: 5,601,209 (GRCm39) |
K194R |
probably damaging |
Het |
| Pcdh17 |
A |
T |
14: 84,685,680 (GRCm39) |
I716F |
possibly damaging |
Het |
| Pck1 |
T |
C |
2: 172,997,042 (GRCm39) |
I228T |
probably damaging |
Het |
| Pla2g2a |
T |
C |
4: 138,562,159 (GRCm39) |
F132L |
probably benign |
Het |
| Prex1 |
A |
G |
2: 166,426,967 (GRCm39) |
V1086A |
probably damaging |
Het |
| Robo1 |
T |
C |
16: 72,809,806 (GRCm39) |
Y1185H |
probably damaging |
Het |
| Sema6c |
T |
G |
3: 95,077,688 (GRCm39) |
V441G |
probably damaging |
Het |
| Slc9a4 |
A |
T |
1: 40,623,198 (GRCm39) |
M146L |
probably benign |
Het |
| Thsd4 |
C |
T |
9: 60,160,013 (GRCm39) |
V358I |
probably damaging |
Het |
| Ttbk1 |
T |
C |
17: 46,781,151 (GRCm39) |
E474G |
probably benign |
Het |
| Ttbk2 |
T |
A |
2: 120,576,193 (GRCm39) |
D928V |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,641,522 (GRCm39) |
G11779S |
probably damaging |
Het |
| Wfdc6b |
T |
C |
2: 164,459,368 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Rasd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R3924:Rasd2
|
UTSW |
8 |
75,948,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4254:Rasd2
|
UTSW |
8 |
75,948,538 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4255:Rasd2
|
UTSW |
8 |
75,948,538 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4664:Rasd2
|
UTSW |
8 |
75,948,556 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5006:Rasd2
|
UTSW |
8 |
75,945,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5016:Rasd2
|
UTSW |
8 |
75,948,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5052:Rasd2
|
UTSW |
8 |
75,948,564 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5951:Rasd2
|
UTSW |
8 |
75,948,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7524:Rasd2
|
UTSW |
8 |
75,948,709 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9135:Rasd2
|
UTSW |
8 |
75,945,174 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R9147:Rasd2
|
UTSW |
8 |
75,948,847 (GRCm39) |
nonsense |
probably null |
|
|
R9381:Rasd2
|
UTSW |
8 |
75,948,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9541:Rasd2
|
UTSW |
8 |
75,945,200 (GRCm39) |
missense |
probably benign |
0.39 |
|
| Posted On |
2015-12-18 |
Incidental Mutation