Incidental Mutation 'IGL02108:Rras2'
ID 280020
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rras2
Ensembl Gene ENSMUSG00000055723
Gene Name related RAS viral (r-ras) oncogene 2
Synonyms TC21, 2610016H24Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.320) question?
Stock # IGL02108
Quality Score
Status
Chromosome 7
Chromosomal Location 113646017-113717016 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 113659623 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 47 (I47T)
Ref Sequence ENSEMBL: ENSMUSP00000147655 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069449] [ENSMUST00000210075]
AlphaFold P62071
Predicted Effect probably damaging
Transcript: ENSMUST00000069449
AA Change: I47T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000069752
Gene: ENSMUSG00000055723
AA Change: I47T

DomainStartEndE-ValueType
RAS 12 178 1.02e-120 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000210075
AA Change: I47T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the R-Ras subfamily of Ras-like small GTPases. The encoded protein associates with the plasma membrane and may function as a signal transducer. This protein may play an important role in activating signal transduction pathways that control cell proliferation. Mutations in this gene are associated with the growth of certain tumors. Pseudogenes of this gene are found on chromosomes 1 and 2. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]
PHENOTYPE: Homozygote and heterozygote null mice are lymphopenic, resulting from diminished homeostatic proliferation and impaired T cell and B cell survival. Mice homozygous for a gene trap insertion exhibit retinal degeneration, and increased total body mass and total body fat. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 T C 8: 56,325,346 (GRCm39) I369M probably damaging Het
Aff1 T G 5: 103,958,975 (GRCm39) probably null Het
Arid1a G T 4: 133,407,827 (GRCm39) P2227T unknown Het
Atp12a A T 14: 56,621,525 (GRCm39) D720V possibly damaging Het
Auh T C 13: 53,043,133 (GRCm39) probably benign Het
Bptf C A 11: 106,965,814 (GRCm39) V1012L probably benign Het
Cbr1 T C 16: 93,407,087 (GRCm39) F268L probably benign Het
Ccdc190 A G 1: 169,761,555 (GRCm39) D219G probably damaging Het
Ccnb1 C T 13: 100,917,665 (GRCm39) probably null Het
Cdh19 G T 1: 110,817,461 (GRCm39) S760R probably benign Het
Cecr2 G A 6: 120,739,519 (GRCm39) probably null Het
Chid1 A T 7: 141,112,841 (GRCm39) M1K probably null Het
Dzank1 T C 2: 144,348,143 (GRCm39) T208A probably benign Het
Ecm2 T A 13: 49,671,920 (GRCm39) Y140* probably null Het
Enox2 A G X: 48,102,393 (GRCm39) L533S possibly damaging Het
Fntb A G 12: 76,934,631 (GRCm39) E167G possibly damaging Het
Gpihbp1 T C 15: 75,469,461 (GRCm39) V92A probably benign Het
Grsf1 C T 5: 88,813,762 (GRCm39) R329Q probably benign Het
Gtpbp4 T A 13: 9,035,249 (GRCm39) D370V probably benign Het
H2ac4 T C 13: 23,935,207 (GRCm39) V31A probably benign Het
Klhl14 T A 18: 21,690,977 (GRCm39) Y491F probably damaging Het
Lamb3 A T 1: 193,014,530 (GRCm39) Q563L probably damaging Het
Lcn2 A T 2: 32,277,617 (GRCm39) L124Q probably damaging Het
Mbl1 T C 14: 40,875,608 (GRCm39) S21P possibly damaging Het
Myrip G A 9: 120,296,631 (GRCm39) probably null Het
Nmur2 T C 11: 55,931,190 (GRCm39) T174A probably benign Het
Odf1 C A 15: 38,226,623 (GRCm39) Y174* probably null Het
Optn A G 2: 5,036,084 (GRCm39) V466A possibly damaging Het
Or5m12 A T 2: 85,734,494 (GRCm39) D301E possibly damaging Het
Or8b9 T A 9: 37,766,234 (GRCm39) V40E possibly damaging Het
Or8g54 A T 9: 39,706,808 (GRCm39) I46F probably damaging Het
Pde9a G A 17: 31,680,667 (GRCm39) S316N probably benign Het
Phf3 A T 1: 30,869,032 (GRCm39) I672K probably damaging Het
Pklr A T 3: 89,044,710 (GRCm39) I63F probably damaging Het
Plet1 T C 9: 50,410,387 (GRCm39) probably benign Het
Pp2d1 T A 17: 53,822,433 (GRCm39) D211V probably damaging Het
Ppp6r3 A T 19: 3,542,494 (GRCm39) W384R probably damaging Het
Prdm11 T C 2: 92,806,048 (GRCm39) I301V probably damaging Het
Prkar1a C T 11: 109,558,351 (GRCm39) R357C probably damaging Het
Ptchd1 T C X: 154,356,548 (GRCm39) T886A probably damaging Het
Ptpre A T 7: 135,260,831 (GRCm39) E156V possibly damaging Het
Ptprq T C 10: 107,482,478 (GRCm39) T1032A probably damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Sh3rf3 T A 10: 58,971,650 (GRCm39) V826E probably damaging Het
Tmem127 T A 2: 127,099,026 (GRCm39) S132T probably damaging Het
Tnrc6c C A 11: 117,612,025 (GRCm39) P221Q probably benign Het
Tstd3 A T 4: 21,759,366 (GRCm39) probably benign Het
Usp46 T G 5: 74,189,867 (GRCm39) T55P probably damaging Het
Other mutations in Rras2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01688:Rras2 APN 7 113,659,632 (GRCm39) missense probably damaging 1.00
IGL02028:Rras2 APN 7 113,659,597 (GRCm39) missense probably benign 0.01
R0017:Rras2 UTSW 7 113,647,490 (GRCm39) splice site probably benign
R0017:Rras2 UTSW 7 113,647,490 (GRCm39) splice site probably benign
R4718:Rras2 UTSW 7 113,649,584 (GRCm39) missense probably benign 0.00
R5371:Rras2 UTSW 7 113,649,572 (GRCm39) missense probably damaging 1.00
R5534:Rras2 UTSW 7 113,649,650 (GRCm39) missense possibly damaging 0.47
R7871:Rras2 UTSW 7 113,716,783 (GRCm39) start gained probably benign
R7982:Rras2 UTSW 7 113,658,186 (GRCm39) missense probably damaging 1.00
R9731:Rras2 UTSW 7 113,659,593 (GRCm39) missense probably damaging 1.00
R9748:Rras2 UTSW 7 113,716,629 (GRCm39) critical splice donor site probably null
Posted On 2015-04-16