Incidental Mutation 'R5951:Rasd2'
ID 470890
Institutional Source Beutler Lab
Gene Symbol Rasd2
Ensembl Gene ENSMUSG00000034472
Gene Name RASD family, member 2
Synonyms 4930526B11Rik, TEM2, TEM-2, Rhes
MMRRC Submission 044141-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # R5951 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 75940572-75950741 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 75948811 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Aspartic acid at position 246 (Y246D)
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: Y246D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120717
Gene: ENSMUSG00000034472
AA Change: Y246D

DomainStartEndE-ValueType
RAS 17 193 6.46e-73 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000139848
AA Change: Y246D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118070
Gene: ENSMUSG00000034472
AA Change: Y246D

DomainStartEndE-ValueType
RAS 17 193 6.46e-73 SMART
Meta Mutation Damage Score 0.1050 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.4%
Validation Efficiency 100% (78/78)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik T A 2: 35,244,811 (GRCm39) E180D probably damaging Het
Add3 A G 19: 53,232,720 (GRCm39) probably null Het
Adgrv1 A T 13: 81,590,620 (GRCm39) I4396N probably damaging Het
Apc C T 18: 34,450,199 (GRCm39) S2331L possibly damaging Het
Apoh G T 11: 108,286,729 (GRCm39) C51F probably damaging Het
Arid4b T C 13: 14,317,648 (GRCm39) V177A possibly damaging Het
Atp13a1 T A 8: 70,249,935 (GRCm39) I343N probably damaging Het
Bcar1 T C 8: 112,440,032 (GRCm39) D654G probably benign Het
Brox T C 1: 183,064,072 (GRCm39) K245R probably damaging Het
Ccdc146 A T 5: 21,524,577 (GRCm39) S258R possibly damaging Het
Ccdc169 A C 3: 55,047,562 (GRCm39) K18Q probably damaging Het
Cenps C A 4: 149,214,658 (GRCm39) probably benign Het
Crot C A 5: 9,019,120 (GRCm39) E478* probably null Het
Dgkq A T 5: 108,802,236 (GRCm39) M443K probably damaging Het
Dhx32 A T 7: 133,339,057 (GRCm39) L326Q probably damaging Het
Dtwd1 A G 2: 126,000,342 (GRCm39) I93V probably benign Het
Ehmt2 C T 17: 35,118,357 (GRCm39) T44I probably benign Het
Enc1 T C 13: 97,381,765 (GRCm39) S92P probably benign Het
Epha5 T C 5: 84,479,051 (GRCm39) probably benign Het
Eya4 T A 10: 23,031,892 (GRCm39) S244C probably damaging Het
Fmnl3 G A 15: 99,223,791 (GRCm39) R302W probably damaging Het
Fscn3 A T 6: 28,436,173 (GRCm39) I490F possibly damaging Het
Galntl6 A G 8: 58,415,436 (GRCm39) V239A probably benign Het
Glg1 T C 8: 111,892,323 (GRCm39) I841V possibly damaging Het
Gm15455 T C 1: 33,876,893 (GRCm39) noncoding transcript Het
Gpd1l C T 9: 114,743,473 (GRCm39) M142I probably benign Het
Helb A G 10: 119,927,653 (GRCm39) V819A possibly damaging Het
Hnrnpul2 T G 19: 8,802,255 (GRCm39) F374C probably damaging Het
Hoxc10 G A 15: 102,875,753 (GRCm39) S154N possibly damaging Het
Ice2 A T 9: 69,319,651 (GRCm39) T367S possibly damaging Het
Iqca1 A T 1: 90,067,819 (GRCm39) probably null Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Klhl14 T A 18: 21,784,677 (GRCm39) H250L probably damaging Het
Kmt2c A T 5: 25,535,801 (GRCm39) D1447E probably benign Het
Larp1 G T 11: 57,940,765 (GRCm39) M630I probably benign Het
Lrp2 A G 2: 69,326,667 (GRCm39) probably null Het
Map4k3 G T 17: 80,911,427 (GRCm39) Q673K probably benign Het
Mettl16 A G 11: 74,686,823 (GRCm39) N201D possibly damaging Het
Mrpl15 C A 1: 4,855,956 (GRCm39) probably benign Het
Mthfd1l T A 10: 3,998,222 (GRCm39) V655D probably damaging Het
Odf1 T C 15: 38,226,531 (GRCm39) Y144H probably damaging Het
Or2f1b G T 6: 42,739,493 (GRCm39) C169F probably damaging Het
Or5t5 G T 2: 86,616,571 (GRCm39) V166L probably benign Het
Padi1 T C 4: 140,542,140 (GRCm39) Y594C probably damaging Het
Palm3 T A 8: 84,756,049 (GRCm39) D520E probably benign Het
Paox G A 7: 139,707,567 (GRCm39) C130Y probably damaging Het
Parpbp T A 10: 87,975,769 (GRCm39) S115C probably damaging Het
Pcnx3 A G 19: 5,721,708 (GRCm39) V1438A possibly damaging Het
Pdlim2 T A 14: 70,405,229 (GRCm39) D212V probably benign Het
Pi4ka A G 16: 17,121,006 (GRCm39) F53L probably damaging Het
Pik3c2a A T 7: 115,967,419 (GRCm39) D839E probably damaging Het
Pou2f1 T C 1: 165,710,625 (GRCm39) probably benign Het
Ppl A T 16: 4,906,492 (GRCm39) Y1268N probably benign Het
Prelid3a C T 18: 67,598,011 (GRCm39) S6L probably benign Het
Ptk2 T G 15: 73,175,682 (GRCm39) D285A possibly damaging Het
Rhbdl2 A G 4: 123,708,120 (GRCm39) T110A probably benign Het
Rhobtb1 T A 10: 69,106,085 (GRCm39) F217I probably damaging Het
Serhl T C 15: 82,987,237 (GRCm39) probably benign Het
Sh3tc2 A G 18: 62,123,078 (GRCm39) E613G probably damaging Het
Slc26a3 A G 12: 31,502,714 (GRCm39) probably benign Het
Steap4 T C 5: 8,025,769 (GRCm39) I110T probably benign Het
Syde1 C A 10: 78,425,150 (GRCm39) R287L possibly damaging Het
Tmem184c C T 8: 78,325,291 (GRCm39) probably null Het
Trmt44 C A 5: 35,730,032 (GRCm39) probably benign Het
Ttbk2 G T 2: 120,603,764 (GRCm39) S256R probably benign Het
Ttll6 A T 11: 96,036,336 (GRCm39) I322F probably damaging Het
Ubap2 A T 4: 41,205,753 (GRCm39) probably null Het
Wsb2 A T 5: 117,515,600 (GRCm39) T402S 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
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'- TCGAGGTGTCAGCCAAGAAG -3'
(R):5'- AATGGGCACAGGGTACACAC -3'

Sequencing Primer
(F):5'- TGCTGTTCAGCATGGCCAAG -3'
(R):5'- GCACAGGGTACACACCTAGG -3'
Posted On 2017-03-31