Incidental Mutation 'R5370:Rhoh'
ID 429598
Institutional Source Beutler Lab
Gene Symbol Rhoh
Ensembl Gene ENSMUSG00000029204
Gene Name ras homolog family member H
Synonyms 5830400A04Rik, Arhh
MMRRC Submission 042947-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5370 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 66018556-66054043 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 66049921 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 64 (A64S)
Ref Sequence ENSEMBL: ENSMUSP00000143810 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031106] [ENSMUST00000201533]
AlphaFold Q9D3G9
Predicted Effect probably benign
Transcript: ENSMUST00000031106
AA Change: A64S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000031106
Gene: ENSMUSG00000029204
AA Change: A64S

DomainStartEndE-ValueType
RHO 7 173 1.58e-90 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000201533
AA Change: A64S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000143810
Gene: ENSMUSG00000029204
AA Change: A64S

DomainStartEndE-ValueType
RHO 7 173 1.58e-90 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the Ras superfamily of guanosine triphosphate (GTP)-metabolizing enzymes. The encoded protein is expressed in hematopoietic cells, where it functions as a negative regulator of cell growth and survival. This gene may be hypermutated or misexpressed in leukemias and lymphomas. Chromosomal translocations in non-Hodgkin's lymphoma occur between this locus and B-cell CLL/lymphoma 6 (BCL6) on chromosome 3, leading to the production of fusion transcripts. Alternative splicing in the 5' untranslated region results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene display abnormalities in the differentiation of T cells and mast cell physiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 C T 5: 24,605,137 (GRCm39) R108C possibly damaging Het
Armc3 A C 2: 19,290,873 (GRCm39) T451P probably benign Het
Ass1 G A 2: 31,408,745 (GRCm39) V379M possibly damaging Het
Cdhr2 A G 13: 54,868,700 (GRCm39) Y554C probably damaging Het
Clec4g C A 8: 3,768,344 (GRCm39) R129L probably benign Het
Dip2b C T 15: 100,109,867 (GRCm39) R1451C probably damaging Het
Dnah9 T A 11: 65,920,180 (GRCm39) T2238S probably damaging Het
Dner CGCTGCTGCTGCTGCTGCTGCTGCTGC CGCTGCTGCTGCTGCTGCTGCTGC 1: 84,563,270 (GRCm39) probably benign Het
Ephb2 T C 4: 136,498,881 (GRCm39) E66G probably benign Het
Fam169a T A 13: 97,243,470 (GRCm39) C167S probably damaging Het
Ggcx T C 6: 72,402,914 (GRCm39) S291P possibly damaging Het
Gsdme T A 6: 50,206,286 (GRCm39) I186F probably damaging Het
Gzma T A 13: 113,232,329 (GRCm39) M191L probably damaging Het
Heatr1 T A 13: 12,416,403 (GRCm39) S226T probably benign Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hs6st1 T A 1: 36,108,162 (GRCm39) S142T probably damaging Het
Ighv3-5 A G 12: 114,226,518 (GRCm39) V36A probably benign Het
Leng8 A G 7: 4,148,433 (GRCm39) D735G possibly damaging Het
Mapk13 T A 17: 28,995,326 (GRCm39) Y182* probably null Het
Mrgprb8 A T 7: 48,038,568 (GRCm39) T80S probably benign Het
Myom2 G A 8: 15,149,343 (GRCm39) A605T probably benign Het
Nxf1 A G 19: 8,749,504 (GRCm39) T134A probably damaging Het
Or2n1d G T 17: 38,646,335 (GRCm39) G96* probably null Het
Padi3 C A 4: 140,537,849 (GRCm39) E24* probably null Het
Pcdhga3 T A 18: 37,808,343 (GRCm39) D265E probably damaging Het
Pros1 A T 16: 62,734,339 (GRCm39) I382L probably benign Het
Ptpn23 A G 9: 110,214,769 (GRCm39) V1544A possibly damaging Het
Rnf115 A G 3: 96,665,336 (GRCm39) T69A probably benign Het
Taf5 A G 19: 47,064,203 (GRCm39) E382G probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Vmn2r104 A T 17: 20,250,450 (GRCm39) I607N probably damaging Het
Vmn2r11 T C 5: 109,195,421 (GRCm39) Y635C probably damaging Het
Vwa5a A G 9: 38,652,512 (GRCm39) D765G probably benign Het
Wnk2 T C 13: 49,256,437 (GRCm39) D228G probably damaging Het
Xirp2 A G 2: 67,342,496 (GRCm39) D1579G possibly damaging Het
Other mutations in Rhoh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01978:Rhoh APN 5 66,050,031 (GRCm39) missense probably benign 0.06
IGL02039:Rhoh APN 5 66,049,981 (GRCm39) missense probably damaging 1.00
IGL02692:Rhoh APN 5 66,050,143 (GRCm39) missense probably benign 0.28
IGL03078:Rhoh APN 5 66,050,231 (GRCm39) missense probably damaging 1.00
hohenzollern UTSW 5 66,050,207 (GRCm39) missense probably damaging 0.99
R4059:Rhoh UTSW 5 66,049,931 (GRCm39) missense probably benign 0.10
R4662:Rhoh UTSW 5 66,050,157 (GRCm39) missense probably benign 0.00
R6968:Rhoh UTSW 5 66,049,862 (GRCm39) missense possibly damaging 0.94
R7130:Rhoh UTSW 5 66,050,207 (GRCm39) missense probably damaging 0.99
R9688:Rhoh UTSW 5 66,049,656 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- AATCAAGTGCGTGCTGGTAG -3'
(R):5'- CATCCTGGGCAAGTCTCTTC -3'

Sequencing Primer
(F):5'- GCTGGTAGGGGACAGTGC -3'
(R):5'- AGGAAGCCCTGTGAGGTC -3'
Posted On 2016-09-06