Incidental Mutation 'IGL02028:Rras2'
ID 184249
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 # IGL02028
Quality Score
Status
Chromosome 7
Chromosomal Location 113646017-113717016 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 113659597 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 56 (V56L)
Ref Sequence ENSEMBL: ENSMUSP00000069752 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069449] [ENSMUST00000210075]
AlphaFold P62071
Predicted Effect probably benign
Transcript: ENSMUST00000069449
AA Change: V56L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000069752
Gene: ENSMUSG00000055723
AA Change: V56L

DomainStartEndE-ValueType
RAS 12 178 1.02e-120 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000210075
AA Change: V56L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi2 A G 1: 60,473,442 (GRCm39) Y53C probably damaging Het
Acacb T A 5: 114,304,076 (GRCm39) D166E probably damaging Het
Akap8l T C 17: 32,557,495 (GRCm39) probably null Het
Arl6ip5 A G 6: 97,206,611 (GRCm39) Y97C probably damaging Het
Atad5 T A 11: 80,024,936 (GRCm39) S1772R probably benign Het
Ccdc106 A G 7: 5,062,645 (GRCm39) Q155R probably damaging Het
Ccdc33 T C 9: 57,983,861 (GRCm39) N446S probably benign Het
Cdh2 T C 18: 16,783,477 (GRCm39) D84G probably benign Het
Cntn6 A G 6: 104,836,387 (GRCm39) K918E probably damaging Het
Dock6 T C 9: 21,750,122 (GRCm39) D521G probably damaging Het
Dync2i1 C A 12: 116,219,681 (GRCm39) R87L probably benign Het
Etv6 C T 6: 134,225,696 (GRCm39) A309V probably benign Het
Ezh1 G T 11: 101,090,166 (GRCm39) H529Q probably damaging Het
Figla T C 6: 85,994,345 (GRCm39) L40P probably damaging Het
Gabra4 T A 5: 71,790,939 (GRCm39) Q301L probably damaging Het
Glt1d1 G A 5: 127,783,984 (GRCm39) V313M possibly damaging Het
Gm28778 T A 1: 53,357,120 (GRCm39) I94K possibly damaging Het
Gm4847 T C 1: 166,469,765 (GRCm39) K103E probably benign Het
Gne A G 4: 44,066,852 (GRCm39) S23P probably damaging Het
Hipk2 A G 6: 38,795,691 (GRCm39) C186R possibly damaging Het
Lrp1b C T 2: 41,401,464 (GRCm39) V283I probably damaging Het
Mcm10 A T 2: 5,013,511 (GRCm39) D40E possibly damaging Het
Morc2b T A 17: 33,356,387 (GRCm39) I462F possibly damaging Het
Myh1 T A 11: 67,101,441 (GRCm39) I711N probably damaging Het
Oit3 A G 10: 59,274,477 (GRCm39) F108L probably damaging Het
Or4f4b T C 2: 111,313,816 (GRCm39) F14L probably benign Het
Or8b49 T A 9: 38,505,715 (GRCm39) L66* probably null Het
Polr1g T C 7: 19,091,003 (GRCm39) K368R probably damaging Het
Rbm19 A G 5: 120,258,301 (GRCm39) D172G probably damaging Het
Ribc2 A G 15: 85,027,536 (GRCm39) D339G possibly damaging Het
Scn2a A G 2: 65,594,002 (GRCm39) E1617G probably damaging Het
Slc13a1 T A 6: 24,118,030 (GRCm39) M236L probably benign Het
Snrnp27 C T 6: 86,659,955 (GRCm39) R13H unknown Het
Srgap2 T C 1: 131,224,173 (GRCm39) K92E probably damaging Het
Suco T C 1: 161,684,428 (GRCm39) K231E possibly damaging Het
Tll2 C A 19: 41,087,088 (GRCm39) E588* probably null Het
Tmem215 A T 4: 40,473,940 (GRCm39) I6L possibly damaging Het
Tnc A C 4: 63,884,909 (GRCm39) probably benign Het
Tob1 G A 11: 94,105,052 (GRCm39) G196D probably benign Het
Ubtfl1 T A 9: 18,320,849 (GRCm39) Y126N possibly damaging Het
Uck1 G T 2: 32,148,149 (GRCm39) Q192K probably damaging Het
Vdac3-ps1 A G 13: 18,205,469 (GRCm39) noncoding transcript Het
Vmn1r88 C T 7: 12,911,719 (GRCm39) S25L probably benign Het
Vmn2r109 T G 17: 20,761,342 (GRCm39) I672L probably benign Het
Vmn2r23 T C 6: 123,718,819 (GRCm39) F724S probably damaging Het
Vmn2r54 A T 7: 12,366,088 (GRCm39) F282Y probably damaging Het
Vmn2r82 A T 10: 79,215,057 (GRCm39) I347F probably benign Het
Wasf2 G A 4: 132,923,112 (GRCm39) R474H probably damaging Het
Zmym5 T C 14: 57,041,617 (GRCm39) H162R possibly damaging Het
Other mutations in Rras2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01688:Rras2 APN 7 113,659,632 (GRCm39) missense probably damaging 1.00
IGL02108:Rras2 APN 7 113,659,623 (GRCm39) missense probably damaging 1.00
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 2014-05-07