Incidental Mutation 'R4255:Rasd2'
ID 321787
Institutional Source Beutler Lab
Gene Symbol Rasd2
Ensembl Gene ENSMUSG00000034472
Gene Name RASD family, member 2
Synonyms 4930526B11Rik, TEM2, TEM-2, Rhes
MMRRC Submission 041068-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # R4255 (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: 95.5%
Validation Efficiency 93% (50/54)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T C 2: 69,136,949 (GRCm39) I171V probably benign Het
Actc1 T C 2: 113,879,697 (GRCm39) N254S probably benign Het
Adgrg1 T G 8: 95,732,530 (GRCm39) probably null Het
Ankrd7 T A 6: 18,869,880 (GRCm39) probably null Het
Baz2b T C 2: 59,750,916 (GRCm39) probably benign Het
Brca2 A G 5: 150,464,634 (GRCm39) E1466G possibly damaging Het
Dagla G A 19: 10,234,316 (GRCm39) R332* probably null Het
Dnah5 T A 15: 28,438,248 (GRCm39) S3960T probably benign Het
Dnhd1 T A 7: 105,362,205 (GRCm39) L3689M probably damaging Het
Epn1 T A 7: 5,100,637 (GRCm39) L530Q probably damaging Het
Fgf17 C A 14: 70,879,162 (GRCm39) probably null Het
Fgfr4 G A 13: 55,314,064 (GRCm39) V593M probably damaging Het
Fmo4 A G 1: 162,621,895 (GRCm39) C439R probably benign Het
Fndc3b T C 3: 27,555,556 (GRCm39) K333E possibly damaging Het
Gpc6 A G 14: 118,188,553 (GRCm39) T396A probably benign Het
Igkv3-2 T A 6: 70,676,045 (GRCm39) V118D probably benign Het
Mtbp C A 15: 55,484,081 (GRCm39) S470R possibly damaging Het
Myh8 A G 11: 67,190,560 (GRCm39) D1295G probably benign Het
Myo1h T C 5: 114,468,198 (GRCm39) I331T possibly damaging Het
Myo7a T G 7: 97,721,171 (GRCm39) M1265L probably damaging Het
Or13a18 C A 7: 140,190,500 (GRCm39) Y132* probably null Het
Or2ak7 A T 11: 58,574,791 (GRCm39) I31F probably damaging Het
Or2o1 G A 11: 49,051,262 (GRCm39) W140* probably null Het
Pak1ip1 A G 13: 41,164,632 (GRCm39) probably benign Het
Pcdha11 A G 18: 37,145,843 (GRCm39) T645A probably benign Het
Peg12 A G 7: 62,113,479 (GRCm39) I206T possibly damaging Het
Pkhd1 A G 1: 20,664,158 (GRCm39) V140A probably damaging Het
Pramel29 T A 4: 143,934,054 (GRCm39) D351V possibly damaging Het
Prrc2c C A 1: 162,533,895 (GRCm39) probably benign Het
Ptprk A G 10: 28,082,241 (GRCm39) E70G probably benign Het
Rabl6 C T 2: 25,474,791 (GRCm39) E640K possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sdf4 A G 4: 156,085,214 (GRCm39) H183R probably benign Het
Slc12a9 C T 5: 137,319,694 (GRCm39) R607H probably damaging Het
Slc38a1 T C 15: 96,483,431 (GRCm39) D299G probably benign Het
Slc4a10 A G 2: 62,112,280 (GRCm39) N657S probably benign Het
Spata31d1c C G 13: 65,183,502 (GRCm39) S348* probably null Het
Spata31d1c T C 13: 65,183,531 (GRCm39) F358L probably benign Het
Srbd1 A T 17: 86,410,350 (GRCm39) S527R possibly damaging Het
Stag3 T C 5: 138,289,143 (GRCm39) V243A probably damaging Het
Tefm A T 11: 80,031,075 (GRCm39) S54T probably damaging Het
Terf1 T C 1: 15,875,903 (GRCm39) M1T probably null Het
Thsd7b G A 1: 129,688,024 (GRCm39) S645N possibly damaging Het
Trmt13 G T 3: 116,376,337 (GRCm39) S285* probably null Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ush2a C T 1: 188,492,040 (GRCm39) R3110* probably null Het
Vnn3 T C 10: 23,741,720 (GRCm39) Y342H 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
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'- CCCTTCACAGGAGATGTCTTC -3'
(R):5'- TTAGTGCGACGCATGCAGAAG -3'

Sequencing Primer
(F):5'- CATCCTGGTGTTCAGCCTGG -3'
(R):5'- CCGGGGGTGAAAAGCATC -3'
Posted On 2015-06-20