Incidental Mutation 'R3924:Rasd2'
ID 307090
Institutional Source Beutler Lab
Gene Symbol Rasd2
Ensembl Gene ENSMUSG00000034472
Gene Name RASD family, member 2
Synonyms 4930526B11Rik, TEM2, TEM-2, Rhes
MMRRC Submission 040915-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # R3924 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 75940572-75950741 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75948602 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 176 (N176S)
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: N176S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120717
Gene: ENSMUSG00000034472
AA Change: N176S

DomainStartEndE-ValueType
RAS 17 193 6.46e-73 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000139848
AA Change: N176S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118070
Gene: ENSMUSG00000034472
AA Change: N176S

DomainStartEndE-ValueType
RAS 17 193 6.46e-73 SMART
Meta Mutation Damage Score 0.3001 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 98% (39/40)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik G T 9: 53,343,705 (GRCm39) V119F probably benign Het
Agtpbp1 A T 13: 59,648,221 (GRCm39) V533D probably benign Het
Ahnak G A 19: 8,983,692 (GRCm39) D1659N probably benign Het
Aldh3b3 A G 19: 4,018,491 (GRCm39) N402S probably damaging Het
Amn T C 12: 111,242,114 (GRCm39) V367A possibly damaging Het
Arpin A G 7: 79,579,435 (GRCm39) Y63H probably benign Het
Brinp2 A G 1: 158,073,778 (GRCm39) L781P probably damaging Het
Cdkl1 G T 12: 69,803,373 (GRCm39) R168S probably damaging Het
Cfap43 T C 19: 47,785,555 (GRCm39) K445R probably benign Het
Csad T C 15: 102,086,991 (GRCm39) S427G probably benign Het
Dach1 A G 14: 98,153,339 (GRCm39) V443A probably damaging Het
Dlat A G 9: 50,569,490 (GRCm39) S160P possibly damaging Het
Dpf1 A G 7: 29,011,098 (GRCm39) R165G possibly damaging Het
Dtd2 G C 12: 52,051,734 (GRCm39) probably null Het
Fa2h A G 8: 112,120,147 (GRCm39) Y80H probably damaging Het
Flii A G 11: 60,610,902 (GRCm39) F509S probably damaging Het
Fmo9 A G 1: 166,492,221 (GRCm39) S350P probably benign Het
Gabra4 A G 5: 71,799,596 (GRCm39) probably benign Het
Gm3604 A G 13: 62,518,044 (GRCm39) S105P probably damaging Het
Gpr155 T A 2: 73,200,420 (GRCm39) L362F probably damaging Het
Lmbrd2 T C 15: 9,149,624 (GRCm39) V86A probably benign Het
Lpcat4 G T 2: 112,077,061 (GRCm39) Q468H possibly damaging Het
Luzp1 T C 4: 136,270,168 (GRCm39) I797T probably damaging Het
Myh8 A T 11: 67,187,963 (GRCm39) I912F probably damaging Het
Notch2 G T 3: 98,029,350 (GRCm39) G1038* probably null Het
Nptx1 G T 11: 119,438,333 (GRCm39) T28N possibly damaging Het
Onecut2 A G 18: 64,474,591 (GRCm39) K381E probably damaging Het
Or9i2 T C 19: 13,816,130 (GRCm39) T136A probably damaging Het
Plekha5 A G 6: 140,516,105 (GRCm39) N317S possibly damaging Het
Polr1a A G 6: 71,906,434 (GRCm39) M417V probably benign Het
Ptpn13 T C 5: 103,698,607 (GRCm39) probably benign Het
Qrfpr T C 3: 36,276,072 (GRCm39) N106S possibly damaging Het
Rsbn1l A G 5: 21,124,785 (GRCm39) V339A probably damaging Het
Ryr3 A G 2: 112,859,048 (GRCm39) probably benign Het
Shkbp1 A G 7: 27,041,827 (GRCm39) W676R probably benign Het
Sipa1 G A 19: 5,710,407 (GRCm39) T201I probably benign Het
Slc35g2 A T 9: 100,434,780 (GRCm39) I297N probably benign Het
Usp28 T C 9: 48,942,223 (GRCm39) probably null Het
Zfp946 G T 17: 22,674,682 (GRCm39) G479C probably benign Het
Other mutations in Rasd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02874:Rasd2 APN 8 75,945,327 (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
R9541:Rasd2 UTSW 8 75,945,200 (GRCm39) missense probably benign 0.39
Predicted Primers PCR Primer
(F):5'- ATCCTGGAGGTCAAGTCCTG -3'
(R):5'- GGCCTTGATGTACTTGAGGTCAC -3'

Sequencing Primer
(F):5'- AGGTCAAGTCCTGCCTGAAG -3'
(R):5'- TCACTGTTGACACTGGGGC -3'
Posted On 2015-04-17