Incidental Mutation 'IGL02874:Rasd2'
ID362655
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rasd2
Ensembl Gene ENSMUSG00000034472
Gene NameRASD family, member 2
Synonyms4930526B11Rik, Rhes, TEM-2, TEM2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.134) question?
Stock #IGL02874
Quality Score
Status
Chromosome8
Chromosomal Location75213944-75224113 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 75218699 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp8a2 A G 14: 59,802,252 Y876H probably damaging Het
Cfap65 G A 1: 74,911,108 Q1161* probably null Het
Chrd C T 16: 20,735,196 T282I probably damaging Het
Clasp1 T C 1: 118,552,043 S749P possibly damaging Het
Clec4a3 T A 6: 122,967,560 N188K probably benign Het
Dmpk A G 7: 19,087,001 M181V possibly damaging Het
Dnah7a A T 1: 53,605,814 M1021K possibly damaging Het
Exoc5 A T 14: 49,051,446 N48K probably benign Het
Golga1 A G 2: 39,039,092 L338P probably damaging Het
Hdc T A 2: 126,601,676 T334S probably benign Het
Idh2 A G 7: 80,097,873 S300P probably damaging Het
Igkv4-78 T C 6: 69,060,206 I7V probably benign Het
Impdh1 A T 6: 29,203,156 M389K probably damaging Het
Kcnd2 T A 6: 21,216,923 C209S probably damaging Het
Olfr661 C A 7: 104,688,023 Q3K probably benign Het
Olfr735 A T 14: 50,346,126 H105Q probably damaging Het
Olfr741 G T 14: 50,486,229 C257F possibly damaging Het
Ovol1 T C 19: 5,551,181 K194R probably damaging Het
Pcdh17 A T 14: 84,448,240 I716F possibly damaging Het
Pck1 T C 2: 173,155,249 I228T probably damaging Het
Pla2g2a T C 4: 138,834,848 F132L probably benign Het
Prex1 A G 2: 166,585,047 V1086A probably damaging Het
Robo1 T C 16: 73,012,918 Y1185H probably damaging Het
Sema6c T G 3: 95,170,377 V441G probably damaging Het
Slc9a4 A T 1: 40,584,038 M146L probably benign Het
Thsd4 C T 9: 60,252,730 V358I probably damaging Het
Ttbk1 T C 17: 46,470,225 E474G probably benign Het
Ttbk2 T A 2: 120,745,712 D928V probably damaging Het
Ttn C T 2: 76,811,178 G11779S probably damaging Het
Wfdc6b T C 2: 164,617,448 probably null Het
Other mutations in Rasd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3924:Rasd2 UTSW 8 75221974 missense probably damaging 1.00
R4254:Rasd2 UTSW 8 75221910 missense probably damaging 0.99
R4255:Rasd2 UTSW 8 75221910 missense probably damaging 0.99
R4664:Rasd2 UTSW 8 75221928 missense possibly damaging 0.88
R5006:Rasd2 UTSW 8 75218606 missense probably damaging 1.00
R5016:Rasd2 UTSW 8 75221975 missense probably damaging 1.00
R5052:Rasd2 UTSW 8 75221936 missense possibly damaging 0.89
R5951:Rasd2 UTSW 8 75222183 missense probably damaging 1.00
R7524:Rasd2 UTSW 8 75222081 missense probably benign 0.00
Posted On2015-12-18