Incidental Mutation 'R5847:Rheb'
ID 453661
Institutional Source Beutler Lab
Gene Symbol Rheb
Ensembl Gene ENSMUSG00000028945
Gene Name Ras homolog enriched in brain
Synonyms Rheb1
MMRRC Submission 044065-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5847 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 25007821-25047359 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 25012067 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 131 (Y131F)
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
AA Change: Y131F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000030787
Gene: ENSMUSG00000028945
AA Change: Y131F

DomainStartEndE-ValueType
RAS 4 170 3.78e-88 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146310
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154523
Meta Mutation Damage Score 0.0585 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.4%
Validation Efficiency 100% (62/62)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 T A 10: 14,302,521 (GRCm39) Y964F probably damaging Het
Akap3 T A 6: 126,842,521 (GRCm39) L380Q probably damaging Het
Alpk1 A G 3: 127,473,723 (GRCm39) I760T probably benign Het
Aoc1l2 T A 6: 48,910,412 (GRCm39) F701L probably damaging Het
Arhgap20 G A 9: 51,736,276 (GRCm39) probably benign Het
Cacng3 T C 7: 122,361,532 (GRCm39) F113S possibly damaging Het
Ccdc158 G T 5: 92,775,339 (GRCm39) N955K probably benign Het
Ccdc63 T A 5: 122,254,908 (GRCm39) M368L possibly damaging Het
Cnot2 T C 10: 116,363,851 (GRCm39) T18A probably damaging Het
Ctnna2 A T 6: 76,950,820 (GRCm39) D550E possibly damaging Het
Cyp2c37 C T 19: 40,000,176 (GRCm39) R433W probably damaging Het
Dact2 A G 17: 14,419,450 (GRCm39) S103P probably damaging Het
Dek A G 13: 47,255,077 (GRCm39) probably benign Het
Dnah9 CAGTTGCTTAAA CA 11: 65,986,066 (GRCm39) probably null Het
Dock4 A G 12: 40,671,250 (GRCm39) Y23C probably damaging Het
Edar T A 10: 58,439,001 (GRCm39) S344C probably damaging Het
Epg5 T C 18: 78,073,270 (GRCm39) V2431A probably benign Het
Evc2 C T 5: 37,562,068 (GRCm39) probably benign Het
Idh3b A T 2: 130,125,948 (GRCm39) D41E probably benign Het
Igkv8-24 A T 6: 70,193,956 (GRCm39) V84D probably damaging Het
Iqca1l A T 5: 24,749,164 (GRCm39) L778Q probably benign Het
Mgam T C 6: 40,660,989 (GRCm39) I1118T probably benign Het
Mtmr3 A G 11: 4,432,925 (GRCm39) V1116A probably damaging Het
Myoc A G 1: 162,466,936 (GRCm39) Y35C probably damaging Het
Ncr1 A T 7: 4,347,573 (GRCm39) D246V probably benign Het
Nphp3 A G 9: 103,880,236 (GRCm39) E86G probably damaging Het
Or2l13b A T 16: 19,349,076 (GRCm39) V198E probably damaging Het
Or52e5 A T 7: 104,719,064 (GRCm39) Y130F probably benign Het
Or8h7 A C 2: 86,720,676 (GRCm39) V281G probably damaging Het
Pbld1 A T 10: 62,912,193 (GRCm39) I275L probably benign Het
Pde12 A G 14: 26,386,786 (GRCm39) V574A possibly damaging Het
Pdxk G T 10: 78,280,872 (GRCm39) D189E probably benign Het
Pkhd1 C A 1: 20,444,960 (GRCm39) E2276* probably null Het
Ppp1r10 A G 17: 36,237,739 (GRCm39) N237S possibly damaging Het
Rpgrip1l T C 8: 92,031,613 (GRCm39) D88G probably damaging Het
Scgb2b33 T C 7: 32,812,239 (GRCm39) noncoding transcript Het
Snx9 C A 17: 5,974,896 (GRCm39) N461K possibly damaging Het
Tbc1d2b C A 9: 90,091,777 (GRCm39) V842F probably damaging Het
Tgfbi G A 13: 56,784,418 (GRCm39) E615K possibly damaging Het
Tmem51 A G 4: 141,759,346 (GRCm39) M134T probably damaging Het
Tox4 A G 14: 52,524,241 (GRCm39) D125G probably damaging Het
Trappc3 A T 4: 126,167,771 (GRCm39) N110I probably damaging Het
Trim11 T A 11: 58,881,419 (GRCm39) D437E probably damaging Het
Ttc23l T C 15: 10,537,682 (GRCm39) N196S probably benign Het
Wnk1 C A 6: 119,969,369 (GRCm39) G362V probably damaging Het
Wwc1 A G 11: 35,758,153 (GRCm39) F731S probably damaging Het
Wwp1 A T 4: 19,662,174 (GRCm39) D140E possibly damaging Het
Zfp24 G A 18: 24,151,095 (GRCm39) P17L possibly damaging Het
Zfp354b T C 11: 50,814,043 (GRCm39) E294G probably damaging Het
Zfp853 C T 5: 143,274,424 (GRCm39) V399M unknown Het
Zfp868 T C 8: 70,064,303 (GRCm39) H344R 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
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
Predicted Primers PCR Primer
(F):5'- GCTGATGTTAGAAACGGCAG -3'
(R):5'- ACATTTCTGAACCTGCAAGACG -3'

Sequencing Primer
(F):5'- GAAACGGCAGAAGGTTAAATAAAAG -3'
(R):5'- CCTGCAAGACGTATTATCCATTGTG -3'
Posted On 2017-02-10