Incidental Mutation 'R0050:Rheb'
ID 218456
Institutional Source Beutler Lab
Gene Symbol Rheb
Ensembl Gene ENSMUSG00000028945
Gene Name Ras homolog enriched in brain
Synonyms Rheb1
MMRRC Submission 038344-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0050 (G1)
Quality Score 71
Status Validated
Chromosome 5
Chromosomal Location 25007821-25047359 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 25022832 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 probably benign
Transcript: ENSMUST00000030787
SMART Domains Protein: ENSMUSP00000030787
Gene: ENSMUSG00000028945

DomainStartEndE-ValueType
RAS 4 170 3.78e-88 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146310
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154523
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158850
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.6%
Validation Efficiency 98% (54/55)
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 C T 11: 110,036,417 (GRCm39) C564Y probably damaging Het
Adamts2 T C 11: 50,666,222 (GRCm39) V406A probably damaging Het
Ankar T A 1: 72,695,323 (GRCm39) E1093D probably damaging Het
Arhgef38 C A 3: 132,837,957 (GRCm39) D75Y probably damaging Het
Atg4b T A 1: 93,715,440 (GRCm39) probably benign Het
Cadm2 A G 16: 66,750,154 (GRCm39) probably benign Het
Ces2c T A 8: 105,574,831 (GRCm39) M96K probably benign Het
Dmrt3 C A 19: 25,599,953 (GRCm39) P266H probably damaging Het
Dock9 A G 14: 121,844,637 (GRCm39) V1124A probably benign Het
Edem1 T C 6: 108,805,809 (GRCm39) F37L possibly damaging Het
Ermp1 C A 19: 29,606,184 (GRCm39) A190S probably damaging Het
Gm10267 T A 18: 44,289,520 (GRCm39) probably benign Het
Golga2 T A 2: 32,182,139 (GRCm39) V29D probably damaging Het
Gprc6a T A 10: 51,491,485 (GRCm39) M755L probably damaging Het
H1f8 G T 6: 115,924,729 (GRCm39) K78N probably damaging Het
Lama3 T A 18: 12,537,160 (GRCm39) H268Q probably damaging Het
Lrriq1 A G 10: 102,904,792 (GRCm39) V1614A probably damaging Het
Oaz2 A G 9: 65,595,084 (GRCm39) E61G probably damaging Het
Pear1 G T 3: 87,663,294 (GRCm39) Y441* probably null Het
Pkhd1l1 A T 15: 44,437,203 (GRCm39) T3493S possibly damaging Het
Plekhg5 T C 4: 152,192,545 (GRCm39) probably null Het
Ppp3cb A G 14: 20,581,820 (GRCm39) V65A possibly damaging Het
Ros1 G A 10: 51,977,899 (GRCm39) T1449M probably damaging Het
Septin4 T C 11: 87,458,172 (GRCm39) L182S probably damaging Het
Slc6a12 T C 6: 121,337,378 (GRCm39) probably benign Het
Stx2 A G 5: 129,076,572 (GRCm39) probably null Het
Tnxb T A 17: 34,892,299 (GRCm39) D764E probably damaging Het
Trmt2a A T 16: 18,068,707 (GRCm39) E234D probably damaging 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
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
R4949:Rheb UTSW 5 25,008,729 (GRCm39) missense possibly damaging 0.75
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'- CAGATTACTCCCTGCAACCAAACCTT -3'
(R):5'- GTCCCATATGCTTCTTGGTCAGTAGTTC -3'

Sequencing Primer
(F):5'- TGCAACCAAACCTTCAAGATTATAC -3'
(R):5'- GTagccggacttatatagcacag -3'
Posted On 2014-08-11