Incidental Mutation 'R5016:Rasd2'
ID 385580
Institutional Source Beutler Lab
Gene Symbol Rasd2
Ensembl Gene ENSMUSG00000034472
Gene Name RASD family, member 2
Synonyms 4930526B11Rik, TEM2, TEM-2, Rhes
MMRRC Submission 042607-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # R5016 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 75940572-75950741 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 75948603 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 176 (N176K)
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: N176K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120717
Gene: ENSMUSG00000034472
AA Change: N176K

DomainStartEndE-ValueType
RAS 17 193 6.46e-73 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000139848
AA Change: N176K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118070
Gene: ENSMUSG00000034472
AA Change: N176K

DomainStartEndE-ValueType
RAS 17 193 6.46e-73 SMART
Meta Mutation Damage Score 0.4859 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.2%
  • 10x: 95.1%
  • 20x: 91.0%
Validation Efficiency 97% (56/58)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp C T 16: 56,491,631 (GRCm39) P768S probably damaging Het
Adprhl1 A G 8: 13,274,889 (GRCm39) L623P possibly damaging Het
Anapc1 A T 2: 128,449,095 (GRCm39) probably benign Het
Ankzf1 C A 1: 75,172,622 (GRCm39) probably benign Het
Ash1l A G 3: 88,889,630 (GRCm39) D503G probably damaging Het
Atp7b T C 8: 22,505,885 (GRCm39) probably null Het
Bach1 T A 16: 87,516,206 (GRCm39) V249D possibly damaging Het
Ccdc158 A G 5: 92,805,751 (GRCm39) S335P probably benign Het
Chd9 T A 8: 91,733,254 (GRCm39) C1374* probably null Het
Col16a1 C T 4: 129,972,988 (GRCm39) T643M probably benign Het
Cygb A G 11: 116,540,840 (GRCm39) F49L probably benign Het
Dnah17 G C 11: 117,971,592 (GRCm39) T2147S probably damaging Het
Drd3 C A 16: 43,582,609 (GRCm39) A34E possibly damaging Het
Ephb6 G A 6: 41,595,041 (GRCm39) R685Q probably benign Het
Ezh1 G A 11: 101,090,063 (GRCm39) probably benign Het
Gpr19 T A 6: 134,846,880 (GRCm39) K231* probably null Het
Gpr61 A G 3: 108,057,983 (GRCm39) V226A possibly damaging Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Hnrnpul2 A G 19: 8,800,189 (GRCm39) K185R possibly damaging Het
Igsf9 A C 1: 172,318,279 (GRCm39) T140P probably damaging Het
Ksr2 A G 5: 117,638,857 (GRCm39) D87G probably benign Het
Llgl2 A G 11: 115,744,250 (GRCm39) E843G probably damaging Het
Ltbp4 GT G 7: 27,027,110 (GRCm39) probably null Het
Luc7l2 A G 6: 38,562,036 (GRCm39) I20V possibly damaging Het
Mcm6 G A 1: 128,271,164 (GRCm39) T485M probably damaging Het
Miox A G 15: 89,219,767 (GRCm39) D85G probably null Het
Nudt18 T C 14: 70,816,903 (GRCm39) F169S probably benign Het
Nxpe4 A G 9: 48,304,185 (GRCm39) N91D probably benign Het
Or13c7 T C 4: 43,854,596 (GRCm39) S96P probably benign Het
Or6c215 A G 10: 129,637,662 (GRCm39) V244A probably benign Het
Or8k39 T G 2: 86,563,090 (GRCm39) I289L probably benign Het
Pdss2 G T 10: 43,098,001 (GRCm39) A82S probably damaging Het
Ptprs T C 17: 56,726,070 (GRCm39) D998G probably damaging Het
Serpinb3a A G 1: 106,974,060 (GRCm39) F284L probably damaging Het
Skint6 T A 4: 113,028,730 (GRCm39) probably null Het
Slc12a6 C T 2: 112,186,972 (GRCm39) probably benign Het
Slc22a19 G A 19: 7,651,737 (GRCm39) T490M probably benign Het
Sp2 A T 11: 96,846,658 (GRCm39) C562S probably damaging Het
Specc1 A G 11: 62,009,783 (GRCm39) E433G possibly damaging Het
Sspo C T 6: 48,429,214 (GRCm39) Q451* probably null Het
St6galnac1 A T 11: 116,656,706 (GRCm39) S478T probably damaging Het
Steap4 C T 5: 8,026,699 (GRCm39) R221* probably null Het
Ugt1a5 C G 1: 88,093,963 (GRCm39) R64G probably benign Het
Vmn1r202 A T 13: 22,686,375 (GRCm39) F14Y probably damaging Het
Vmn2r79 T C 7: 86,686,548 (GRCm39) V643A probably benign Het
Vmn2r91 C A 17: 18,330,322 (GRCm39) Y535* probably null Het
Wdr3 A T 3: 100,048,936 (GRCm39) probably benign Het
Wdr95 T C 5: 149,468,266 (GRCm39) M41T 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
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
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'- AGGTCAAGTCCTGCCTGAAG -3'
(R):5'- GACCTTGGCCTTGATGTACTTG -3'

Sequencing Primer
(F):5'- GTCAAGTCCTGCCTGAAGAATAAAAC -3'
(R):5'- TCACTGTTGACACTGGGGC -3'
Posted On 2016-05-10