Incidental Mutation 'R9381:Rasd2'
ID 710024
Institutional Source Beutler Lab
Gene Symbol Rasd2
Ensembl Gene ENSMUSG00000034472
Gene Name RASD family, member 2
Synonyms 4930526B11Rik, TEM2, TEM-2, Rhes
MMRRC Submission 068992-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # R9381 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 75940572-75950741 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75948589 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 172 (S172P)
Ref Sequence ENSEMBL: ENSMUSP00000120717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000132133] [ENSMUST00000139848]
AlphaFold P63032
Predicted Effect probably damaging
Transcript: ENSMUST00000132133
AA Change: S172P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120717
Gene: ENSMUSG00000034472
AA Change: S172P

DomainStartEndE-ValueType
RAS 17 193 6.46e-73 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000139848
AA Change: S172P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118070
Gene: ENSMUSG00000034472
AA Change: S172P

DomainStartEndE-ValueType
RAS 17 193 6.46e-73 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002D01Rik CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC 7: 28,947,048 (GRCm39) probably benign Het
9930111J21Rik1 T A 11: 48,839,204 (GRCm39) K461M probably damaging Het
Abhd16b A G 2: 181,135,881 (GRCm39) Y261C probably damaging Het
Acadl T C 1: 66,893,805 (GRCm39) T117A probably benign Het
Adamts15 A G 9: 30,813,816 (GRCm39) V783A probably damaging Het
Aff1 A T 5: 103,981,733 (GRCm39) Q624L possibly damaging Het
Afg3l2 T G 18: 67,575,451 (GRCm39) E74A probably damaging Het
Aig1 T C 10: 13,523,417 (GRCm39) E238G probably benign Het
Ankrd17 C T 5: 90,416,508 (GRCm39) R1108Q probably damaging Het
Anks1 A T 17: 28,272,979 (GRCm39) Y958F probably damaging Het
Arhgef28 C A 13: 98,036,269 (GRCm39) Q1663H possibly damaging Het
Asb3 T C 11: 31,051,088 (GRCm39) L475P probably damaging Het
Atg9a T A 1: 75,162,726 (GRCm39) M430L probably benign Het
Bco1 T A 8: 117,837,631 (GRCm39) V164E probably benign Het
Bhlhe40 T C 6: 108,642,244 (GRCm39) L396P probably damaging Het
C5ar2 A T 7: 15,970,887 (GRCm39) S347T probably damaging Het
Cdc42bpa T C 1: 179,969,048 (GRCm39) S1212P probably damaging Het
Ceacam3 C G 7: 16,893,715 (GRCm39) Q409E Het
Ces3b T C 8: 105,811,670 (GRCm39) V62A probably benign Het
Dalrd3 A G 9: 108,448,242 (GRCm39) probably null Het
Ddhd2 G T 8: 26,239,849 (GRCm39) A288E probably benign Het
Dnah17 T A 11: 117,914,219 (GRCm39) M4435L probably benign Het
Dok1 T C 6: 83,009,972 (GRCm39) K46E probably damaging Het
E030025P04Rik A G 11: 109,030,384 (GRCm39) Y168H unknown Het
Elavl2 T C 4: 91,197,009 (GRCm39) N23S probably benign Het
Elfn1 T C 5: 139,959,462 (GRCm39) V822A probably damaging Het
Emb G T 13: 117,357,096 (GRCm39) probably benign Het
Exoc5 C T 14: 49,275,194 (GRCm39) S202N probably benign Het
Fryl T C 5: 73,240,637 (GRCm39) D1321G probably benign Het
Gm12258 C T 11: 58,750,007 (GRCm39) T394I unknown Het
Gm28363 T A 1: 117,654,615 (GRCm39) S85T probably damaging Het
H2-Q1 A G 17: 35,542,138 (GRCm39) T237A probably damaging Het
Hectd4 A T 5: 121,472,492 (GRCm39) I2743F possibly damaging Het
Hs3st3b1 C T 11: 63,812,692 (GRCm39) G8S probably benign Het
Ighv1-16 T C 12: 114,629,598 (GRCm39) N63S probably benign Het
Il20rb A G 9: 100,343,541 (GRCm39) F238L possibly damaging Het
Il31ra A T 13: 112,668,253 (GRCm39) F439I possibly damaging Het
Jup C T 11: 100,270,391 (GRCm39) C372Y probably damaging Het
Kat2a T C 11: 100,602,692 (GRCm39) Q132R possibly damaging Het
Kcnq2 A G 2: 180,751,562 (GRCm39) I278T probably damaging Het
Lama1 T C 17: 68,044,479 (GRCm39) V126A Het
Lama2 T A 10: 27,064,023 (GRCm39) R1285* probably null Het
Larp1 A G 11: 57,949,532 (GRCm39) T1054A probably benign Het
Lrp1 A T 10: 127,441,337 (GRCm39) M262K probably benign Het
Lrrd1 A G 5: 3,901,074 (GRCm39) I460V probably benign Het
Ltbp1 A T 17: 75,696,434 (GRCm39) N1606I probably damaging Het
Mdga2 T C 12: 66,597,304 (GRCm39) N730S possibly damaging Het
Mpzl1 T C 1: 165,429,323 (GRCm39) H236R probably damaging Het
Mrps31 G A 8: 22,904,752 (GRCm39) R47K probably damaging Het
Nae1 A T 8: 105,250,239 (GRCm39) I218K probably benign Het
Npy2r T C 3: 82,448,356 (GRCm39) T140A probably damaging Het
Nr2e1 T A 10: 42,439,468 (GRCm39) L350F probably damaging Het
Nup210l C T 3: 90,107,173 (GRCm39) P1570L probably benign Het
Or51d1 A T 7: 102,347,654 (GRCm39) M70L probably damaging Het
Or5b124 G T 19: 13,610,647 (GRCm39) M57I probably damaging Het
Or5p50 A C 7: 107,421,812 (GRCm39) L288W probably damaging Het
Pabpc1l G T 2: 163,867,423 (GRCm39) C8F probably benign Het
Pafah1b3 A C 7: 24,994,699 (GRCm39) F172V probably benign Het
Pcdhga6 A T 18: 37,841,371 (GRCm39) T364S probably damaging Het
Ppp3cc T A 14: 70,462,441 (GRCm39) M399L probably benign Het
Prpsap2 T C 11: 61,635,782 (GRCm39) I173V probably benign Het
Rabggtb A T 3: 153,613,817 (GRCm39) W252R probably damaging Het
Raph1 A G 1: 60,540,959 (GRCm39) F351L unknown Het
Rbm15 T C 3: 107,238,752 (GRCm39) T549A probably benign Het
Reln A G 5: 22,549,202 (GRCm39) Y69H possibly damaging Het
Samd3 T A 10: 26,147,643 (GRCm39) N439K probably benign Het
Scap C A 9: 110,207,839 (GRCm39) A516D probably damaging Het
Selplg T C 5: 113,957,917 (GRCm39) T130A probably benign Het
Slc12a7 A G 13: 73,949,063 (GRCm39) M697V probably benign Het
Slc22a29 A G 19: 8,195,841 (GRCm39) I66T probably benign Het
Slco1a7 T C 6: 141,711,490 (GRCm39) I74V probably benign Het
Snrnp48 A C 13: 38,404,667 (GRCm39) I241L probably damaging Het
Sptb C T 12: 76,634,292 (GRCm39) E2140K probably benign Het
Strip2 T C 6: 29,927,333 (GRCm39) S192P probably benign Het
Svil A T 18: 5,099,013 (GRCm39) R1643S probably benign Het
Tbc1d2b A G 9: 90,101,139 (GRCm39) V617A possibly damaging Het
Tmem102 T C 11: 69,695,141 (GRCm39) E277G probably benign Het
Tmtc4 T G 14: 123,163,441 (GRCm39) I648L probably benign Het
Togaram1 T C 12: 65,014,204 (GRCm39) V485A probably damaging Het
Trim43b T C 9: 88,969,642 (GRCm39) I269V probably benign Het
Trpm2 T A 10: 77,747,191 (GRCm39) I1436F possibly damaging Het
Ube2d3 A T 3: 135,168,722 (GRCm39) I106F possibly damaging Het
Vdr G A 15: 97,755,333 (GRCm39) R397C probably damaging Het
Vps50 T C 6: 3,592,433 (GRCm39) S689P probably benign Het
Wipf2 A G 11: 98,787,068 (GRCm39) T366A probably damaging Het
Zfp128 T C 7: 12,624,897 (GRCm39) Y422H possibly damaging Het
Zfyve28 G A 5: 34,373,932 (GRCm39) T694I 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
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
R9541:Rasd2 UTSW 8 75,945,200 (GRCm39) missense probably benign 0.39
Predicted Primers PCR Primer
(F):5'- AGATCCTGGAGGTCAAGTCCTG -3'
(R):5'- GCCTTGATGTACTTGAGGTCAC -3'

Sequencing Primer
(F):5'- AGGTCAAGTCCTGCCTGAAG -3'
(R):5'- TCACTGTTGACACTGGGGC -3'
Posted On 2022-04-18