Incidental Mutation 'R9541:Rasd2'
ID 719878
Institutional Source Beutler Lab
Gene Symbol Rasd2
Ensembl Gene ENSMUSG00000034472
Gene Name RASD family, member 2
Synonyms 4930526B11Rik, TEM2, TEM-2, Rhes
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # R9541 (G1)
Quality Score 198.009
Status Not validated
Chromosome 8
Chromosomal Location 75940572-75950741 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75945200 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 10 (C10R)
Ref Sequence ENSEMBL: ENSMUSP00000120717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000132133] [ENSMUST00000139848]
AlphaFold P63032
Predicted Effect probably benign
Transcript: ENSMUST00000132133
AA Change: C10R

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000120717
Gene: ENSMUSG00000034472
AA Change: C10R

DomainStartEndE-ValueType
RAS 17 193 6.46e-73 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000139848
AA Change: C10R

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000118070
Gene: ENSMUSG00000034472
AA Change: C10R

DomainStartEndE-ValueType
RAS 17 193 6.46e-73 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 96.5%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 T C 7: 45,801,079 (GRCm39) I450V probably benign Het
Adam21 T C 12: 81,607,724 (GRCm39) T13A probably benign Het
Adamts4 C A 1: 171,084,695 (GRCm39) P644H probably damaging Het
Ak9 C T 10: 41,243,173 (GRCm39) A689V Het
Ankhd1 G A 18: 36,757,697 (GRCm39) S209N Het
Anks1b A T 10: 90,412,947 (GRCm39) T32S probably benign Het
Atp13a4 G T 16: 29,241,544 (GRCm39) T708K Het
B4gat1 C T 19: 5,089,896 (GRCm39) P298S probably damaging Het
Btbd9 A G 17: 30,439,438 (GRCm39) L583P possibly damaging Het
Ciart C A 3: 95,788,527 (GRCm39) C104F possibly damaging Het
Coq5 T C 5: 115,417,901 (GRCm39) S44P probably benign Het
Dennd5b A G 6: 148,899,872 (GRCm39) V1175A probably benign Het
Filip1 T A 9: 79,727,135 (GRCm39) K495* probably null Het
Fscn2 G A 11: 120,258,771 (GRCm39) V439M probably damaging Het
Gcn1 A G 5: 115,754,416 (GRCm39) I2339V probably benign Het
Gmppa T A 1: 75,417,094 (GRCm39) S176R probably damaging Het
Gpatch3 G A 4: 133,305,595 (GRCm39) E277K probably benign Het
Hcn4 A G 9: 58,767,685 (GRCm39) D1082G probably damaging Het
Hdgfl2 T A 17: 56,405,976 (GRCm39) D487E unknown Het
Ifna14 A T 4: 88,490,010 (GRCm39) M9K probably null Het
Igkv4-81 A G 6: 68,967,925 (GRCm39) Y59H Het
Il2rb T A 15: 78,372,393 (GRCm39) N108I probably benign Het
Jarid2 C T 13: 45,068,253 (GRCm39) R1092W possibly damaging Het
Kdm5d T G Y: 910,801 (GRCm39) C304W probably damaging Het
Khnyn T C 14: 56,124,109 (GRCm39) I121T possibly damaging Het
Lmcd1 A T 6: 112,306,824 (GRCm39) H332L probably damaging Het
Lrp1b T C 2: 41,234,600 (GRCm39) D1117G Het
Med25 A G 7: 44,541,267 (GRCm39) V82A possibly damaging Het
Mindy2 G A 9: 70,512,508 (GRCm39) R581C possibly damaging Het
Mindy3 T C 2: 12,391,449 (GRCm39) T257A probably damaging Het
Myo1e A T 9: 70,204,628 (GRCm39) Y76F probably damaging Het
Npas2 A T 1: 39,377,194 (GRCm39) I519F possibly damaging Het
Or2h2c C T 17: 37,422,824 (GRCm39) D17N probably benign Het
Or4f52 T A 2: 111,061,275 (GRCm39) T288S probably damaging Het
Or5ak25 T A 2: 85,269,025 (GRCm39) H159L possibly damaging Het
Otx1 A G 11: 21,947,052 (GRCm39) F86L probably damaging Het
Pcm1 A G 8: 41,780,616 (GRCm39) D1856G probably benign Het
Pcsk7 G A 9: 45,820,768 (GRCm39) E67K probably benign Het
Pkd2 A G 5: 104,607,927 (GRCm39) Y142C probably damaging Het
Ptpre A G 7: 135,266,740 (GRCm39) D236G probably benign Het
Rd3 C A 1: 191,717,294 (GRCm39) R140S possibly damaging Het
Rusc1 T G 3: 88,998,922 (GRCm39) T287P possibly damaging Het
Slc22a7 T C 17: 46,749,084 (GRCm39) S78G probably damaging Het
Sltm A T 9: 70,481,057 (GRCm39) H303L unknown Het
Syne4 G A 7: 30,016,343 (GRCm39) V228I probably benign Het
Timm22 T A 11: 76,300,641 (GRCm39) C138S possibly damaging Het
Trib2 T A 12: 15,866,827 (GRCm39) I15L unknown Het
Ttn C T 2: 76,715,357 (GRCm39) E7912K unknown Het
Tyro3 T C 2: 119,642,589 (GRCm39) V591A possibly damaging Het
Vmn2r69 A G 7: 85,056,209 (GRCm39) V643A probably benign Het
Zfp281 G T 1: 136,555,303 (GRCm39) Q760H probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- GTTGGTCCTGTGCTCAAGAG -3'
(R):5'- TCCCCGTGGATGTTGTACAC -3'

Sequencing Primer
(F):5'- CGAACAAGGGAGCCATTCC -3'
(R):5'- CCTTGCGATGAAAGTCCTCGATAG -3'
Posted On 2022-07-18