Incidental Mutation 'R4949:Rheb'
ID 383657
Institutional Source Beutler Lab
Gene Symbol Rheb
Ensembl Gene ENSMUSG00000028945
Gene Name Ras homolog enriched in brain
Synonyms Rheb1
MMRRC Submission 042546-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4949 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 25007821-25047359 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 25008729 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 163 (I163K)
Ref Sequence ENSEMBL: ENSMUSP00000030787 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030787]
AlphaFold Q921J2
PDB Structure Structure of Wild Type Mus musculus Rheb bound to GTP [X-RAY DIFFRACTION]
Structure of Mus musculus Rheb G63A mutant bound to GTP [X-RAY DIFFRACTION]
Structure of Mus musculus Rheb G63V mutant bound to GDP [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000030787
AA Change: I163K

PolyPhen 2 Score 0.751 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000030787
Gene: ENSMUSG00000028945
AA Change: I163K

DomainStartEndE-ValueType
RAS 4 170 3.78e-88 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146310
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the small GTPase superfamily and encodes a lipid-anchored, cell membrane protein with five repeats of the RAS-related GTP-binding region. This protein is vital in regulation of growth and cell cycle progression due to its role in the insulin/TOR/S6K signaling pathway. The protein has GTPase activity and shuttles between a GDP-bound form and a GTP-bound form, and farnesylation of the protein is required for this activity. Three pseudogenes have been mapped, two on chromosome 10 and one on chromosome 22. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display embryonic lethality during organogenesis associated with impaired heart development. Mice homozygous for a conditional allele activated in the heart exhibit postnatal lethality due to impaired cardiac hypertrophic growth and sarcomere maturation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox3 T C 5: 35,769,450 (GRCm39) V692A probably benign Het
Bcl2l13 G T 6: 120,864,191 (GRCm39) G382W probably damaging Het
Cdhr5 T A 7: 140,852,557 (GRCm39) N353I probably damaging Het
Chil4 A G 3: 106,113,408 (GRCm39) S170P possibly damaging Het
Clp1 A C 2: 84,554,086 (GRCm39) M361R possibly damaging Het
Cylc2 A G 4: 51,229,804 (GRCm39) K382R unknown Het
Dsg2 T A 18: 20,723,241 (GRCm39) D422E probably damaging Het
Dync1h1 C A 12: 110,624,560 (GRCm39) T3700N probably damaging Het
Gm14295 A C 2: 176,501,469 (GRCm39) T320P probably damaging Het
Ido2 T G 8: 25,023,970 (GRCm39) probably null Het
Ift140 T A 17: 25,313,639 (GRCm39) S1357T probably benign Het
Insr T G 8: 3,235,059 (GRCm39) E145A probably benign Het
Itpripl1 A G 2: 126,983,327 (GRCm39) M265T probably benign Het
Kcnb1 G T 2: 166,947,521 (GRCm39) N442K probably damaging Het
Kifc5b C A 17: 27,144,488 (GRCm39) R536S probably damaging Het
Klf6 A T 13: 5,914,947 (GRCm39) S129C probably benign Het
Lpin2 C G 17: 71,538,334 (GRCm39) P327A probably damaging Het
Lsm1 T C 8: 26,292,065 (GRCm39) V114A probably benign Het
Map7d1 C T 4: 126,128,846 (GRCm39) W218* probably null Het
N4bp2 T A 5: 65,979,142 (GRCm39) probably null Het
Nt5el T A 13: 105,246,214 (GRCm39) S258R probably damaging Het
Rph3a T C 5: 121,101,897 (GRCm39) D113G probably damaging Het
Scn8a A G 15: 100,927,663 (GRCm39) N1381D probably damaging Het
Sdsl T A 5: 120,597,870 (GRCm39) N208Y possibly damaging Het
Serpinb9e A G 13: 33,435,591 (GRCm39) N8S possibly damaging Het
Sox18 G A 2: 181,313,017 (GRCm39) Q100* probably null Het
Taar8b C T 10: 23,967,825 (GRCm39) C123Y probably damaging Het
Tas2r124 A G 6: 132,731,858 (GRCm39) I56V possibly damaging Het
Tes C A 6: 17,100,359 (GRCm39) H331N probably benign Het
Tmbim1 T G 1: 74,334,524 (GRCm39) D12A probably damaging Het
Tmprss4 T C 9: 45,086,841 (GRCm39) I307V possibly damaging Het
Ttll1 A T 15: 83,386,374 (GRCm39) M77K probably null Het
Ttpal G A 2: 163,455,671 (GRCm39) R220Q probably damaging Het
Vmn1r230 T A 17: 21,067,625 (GRCm39) H271Q probably benign Het
Vmn2r32 A G 7: 7,467,083 (GRCm39) I815T probably benign Het
Other mutations in Rheb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00909:Rheb APN 5 25,012,073 (GRCm39) missense probably damaging 1.00
IGL02836:Rheb APN 5 25,008,709 (GRCm39) missense probably benign 0.01
R0050:Rheb UTSW 5 25,022,832 (GRCm39) splice site probably benign
R0050:Rheb UTSW 5 25,022,832 (GRCm39) splice site probably benign
R2137:Rheb UTSW 5 25,012,601 (GRCm39) critical splice donor site probably null
R3034:Rheb UTSW 5 25,008,721 (GRCm39) missense probably damaging 0.97
R5095:Rheb UTSW 5 25,012,639 (GRCm39) missense probably benign 0.25
R5259:Rheb UTSW 5 25,008,743 (GRCm39) missense probably benign
R5763:Rheb UTSW 5 25,012,785 (GRCm39) missense probably benign 0.01
R5847:Rheb UTSW 5 25,012,067 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TTTGGACAGAGTCAGACGTTAAC -3'
(R):5'- CTCTGACAAAGGCCATGTGG -3'

Sequencing Primer
(F):5'- TGACCCAAATGACATCTTTCAGG -3'
(R):5'- CCATGTGGCTTATGGGGCTTC -3'
Posted On 2016-04-27