Incidental Mutation 'R4254:Rasd2'
ID |
321738 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rasd2
|
Ensembl Gene |
ENSMUSG00000034472 |
Gene Name |
RASD family, member 2 |
Synonyms |
4930526B11Rik, TEM2, TEM-2, Rhes |
MMRRC Submission |
041067-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.166)
|
Stock # |
R4254 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
75940572-75950741 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 75948538 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 155
(E155K)
|
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: E155K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000120717 Gene: ENSMUSG00000034472 AA Change: E155K
Domain | Start | End | E-Value | Type |
RAS
|
17 |
193 |
6.46e-73 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000139848
AA Change: E155K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000118070 Gene: ENSMUSG00000034472 AA Change: E155K
Domain | Start | End | E-Value | Type |
RAS
|
17 |
193 |
6.46e-73 |
SMART |
|
Meta Mutation Damage Score |
0.1948 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
98% (40/41) |
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg1 |
T |
G |
8: 95,732,530 (GRCm39) |
|
probably null |
Het |
Adgrg2 |
T |
G |
X: 159,265,404 (GRCm39) |
S551R |
possibly damaging |
Het |
Anapc2 |
T |
C |
2: 25,163,357 (GRCm39) |
V198A |
probably benign |
Het |
Asxl3 |
T |
C |
18: 22,657,423 (GRCm39) |
I1811T |
possibly damaging |
Het |
Atp5mc3 |
A |
C |
2: 73,740,319 (GRCm39) |
|
probably benign |
Het |
Ccdc27 |
A |
C |
4: 154,123,976 (GRCm39) |
S186A |
unknown |
Het |
Ccdc28a |
A |
G |
10: 18,100,683 (GRCm39) |
L48P |
probably damaging |
Het |
Cdh19 |
C |
T |
1: 110,852,760 (GRCm39) |
A392T |
probably damaging |
Het |
Cfap65 |
T |
C |
1: 74,942,517 (GRCm39) |
D1679G |
probably benign |
Het |
Copa |
C |
T |
1: 171,929,811 (GRCm39) |
R293C |
probably damaging |
Het |
Depdc1a |
A |
G |
3: 159,204,124 (GRCm39) |
R58G |
probably damaging |
Het |
Dnah5 |
T |
A |
15: 28,438,248 (GRCm39) |
S3960T |
probably benign |
Het |
Dsg4 |
A |
T |
18: 20,604,595 (GRCm39) |
T1021S |
probably benign |
Het |
Hrh1 |
T |
A |
6: 114,456,962 (GRCm39) |
M81K |
probably damaging |
Het |
Ipo11 |
G |
A |
13: 107,029,017 (GRCm39) |
T312I |
probably benign |
Het |
Itgb2l |
T |
C |
16: 96,231,777 (GRCm39) |
N330D |
probably benign |
Het |
Itsn1 |
G |
A |
16: 91,615,440 (GRCm39) |
|
probably benign |
Het |
Kcnb1 |
A |
G |
2: 166,947,651 (GRCm39) |
I399T |
probably damaging |
Het |
Muc13 |
G |
A |
16: 33,636,221 (GRCm39) |
M568I |
probably benign |
Het |
Nlrp1a |
A |
C |
11: 71,013,854 (GRCm39) |
Y465* |
probably null |
Het |
Nwd2 |
G |
A |
5: 63,963,889 (GRCm39) |
V1158I |
possibly damaging |
Het |
Or2h1b |
A |
G |
17: 37,462,530 (GRCm39) |
I111T |
possibly damaging |
Het |
Or5d14 |
C |
T |
2: 87,880,123 (GRCm39) |
V282I |
possibly damaging |
Het |
Or8b101 |
T |
A |
9: 38,020,546 (GRCm39) |
L183H |
probably damaging |
Het |
Ptprr |
T |
A |
10: 115,998,348 (GRCm39) |
|
probably null |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Serinc3 |
T |
A |
2: 163,478,888 (GRCm39) |
M80L |
probably benign |
Het |
Sf1 |
T |
C |
19: 6,421,677 (GRCm39) |
V140A |
probably damaging |
Het |
Slc15a2 |
A |
T |
16: 36,574,852 (GRCm39) |
V519E |
probably benign |
Het |
Slc16a10 |
A |
G |
10: 39,952,997 (GRCm39) |
Y166H |
probably damaging |
Het |
Slc38a1 |
T |
C |
15: 96,483,431 (GRCm39) |
D299G |
probably benign |
Het |
Smim29 |
A |
T |
17: 27,784,696 (GRCm39) |
|
probably null |
Het |
Tmbim1 |
C |
A |
1: 74,333,090 (GRCm39) |
V92F |
probably damaging |
Het |
Vsig4 |
C |
A |
X: 95,334,107 (GRCm39) |
R134L |
probably benign |
Het |
|
Other mutations in Rasd2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02874:Rasd2
|
APN |
8 |
75,945,327 (GRCm39) |
missense |
probably damaging |
1.00 |
R3924:Rasd2
|
UTSW |
8 |
75,948,602 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGTCTTCATCCTGGTGTTCAG -3'
(R):5'- ATAGGCACCTGCGACCTTAG -3'
Sequencing Primer
(F):5'- TGTTCAGCCTGGATAGCCG -3'
(R):5'- TTAGTGCGACGCATGCAG -3'
|
Posted On |
2015-06-20 |