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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
RAS 17 193 6.46e-73 SMART
Meta Mutation Damage Score 0.1948 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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