Incidental Mutation 'R5107:Rhou'
ID 393608
Institutional Source Beutler Lab
Gene Symbol Rhou
Ensembl Gene ENSMUSG00000039960
Gene Name ras homolog family member U
Synonyms mG28K, WRCH-1, CDC42L1, WRCH1, 2310026M05Rik, Arhu
MMRRC Submission 042695-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5107 (G1)
Quality Score 210
Status Validated
Chromosome 8
Chromosomal Location 124380668-124390623 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 124387912 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 215 (K215*)
Ref Sequence ENSEMBL: ENSMUSP00000038915 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045487] [ENSMUST00000127664]
AlphaFold Q9EQT3
Predicted Effect probably null
Transcript: ENSMUST00000045487
AA Change: K215*
SMART Domains Protein: ENSMUSP00000038915
Gene: ENSMUSG00000039960
AA Change: K215*

DomainStartEndE-ValueType
low complexity region 7 53 N/A INTRINSIC
RHO 55 228 5.59e-100 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.7%
Validation Efficiency 98% (56/57)
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 Rho family of GTPases. This protein can activate PAK1 and JNK1, and can induce filopodium formation and stress fiber dissolution. It may also mediate the effects of WNT1 signaling in the regulation of cell morphology, cytoskeletal organization, and cell proliferation. A non-coding transcript variant of this gene results from naturally occurring read-through transcription between this locus and the neighboring DUSP5P (dual specificity phosphatase 5 pseudogene) locus.[provided by RefSeq, Mar 2011]
Allele List at MGI

All alleles(2) : Targeted, other(2)
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik T C 13: 61,001,472 (GRCm39) N85S possibly damaging Het
Adgre1 A G 17: 57,708,977 (GRCm39) Y56C possibly damaging Het
Agbl5 C A 5: 31,049,822 (GRCm39) P257Q probably damaging Het
Angptl2 A T 2: 33,118,615 (GRCm39) M130L probably damaging Het
Atp6v1f T A 6: 29,468,198 (GRCm39) probably null Het
Ccdc78 G A 17: 26,006,454 (GRCm39) V133M possibly damaging Het
Clpx A G 9: 65,215,821 (GRCm39) K145E possibly damaging Het
Col18a1 T C 10: 76,913,057 (GRCm39) probably null Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Igkv4-54 T C 6: 69,608,914 (GRCm39) I24V possibly damaging Het
Ikzf3 A G 11: 98,381,302 (GRCm39) Y93H probably damaging Het
Isl2 T C 9: 55,449,570 (GRCm39) V82A probably benign Het
Kcnq2 A T 2: 180,750,340 (GRCm39) probably benign Het
Krt4 A T 15: 101,831,226 (GRCm39) M225K possibly damaging Het
Ksr2 T C 5: 117,827,673 (GRCm39) V484A probably benign Het
Lrba T A 3: 86,267,086 (GRCm39) V1592E possibly damaging Het
Lrrc7 G A 3: 157,867,533 (GRCm39) P736L probably damaging Het
Mettl8 A T 2: 70,795,901 (GRCm39) F376I probably damaging Het
Muc5b T A 7: 141,409,268 (GRCm39) H1117Q unknown Het
Myh7 T A 14: 55,223,881 (GRCm39) probably benign Het
Myod1 G T 7: 46,027,218 (GRCm39) A228S probably benign Het
Ntrk1 T C 3: 87,702,280 (GRCm39) T58A probably benign Het
Or12d17 A G 17: 37,777,144 (GRCm39) T16A probably damaging Het
Pdcd11 T A 19: 47,094,893 (GRCm39) V559E probably damaging Het
Pde10a A G 17: 9,163,802 (GRCm39) N191S probably damaging Het
Phf3 A G 1: 30,870,566 (GRCm39) S161P probably benign Het
Pias1 C A 9: 62,789,510 (GRCm39) A566S probably benign Het
Pik3c2g T C 6: 139,612,623 (GRCm39) probably benign Het
Pmp22 A G 11: 63,049,237 (GRCm39) E160G probably damaging Het
Polb T C 8: 23,135,062 (GRCm39) probably null Het
Prob1 T C 18: 35,785,989 (GRCm39) N755S possibly damaging Het
Scaper A G 9: 55,487,616 (GRCm39) S749P probably damaging Het
Selenop A G 15: 3,305,075 (GRCm39) E77G probably damaging Het
Sema3a C A 5: 13,627,572 (GRCm39) S490* probably null Het
Slc26a2 A G 18: 61,331,632 (GRCm39) Y600H probably damaging Het
Slfn8 A C 11: 82,907,976 (GRCm39) I189S probably damaging Het
Stab1 T A 14: 30,885,752 (GRCm39) probably null Het
Tbc1d13 G A 2: 30,036,733 (GRCm39) E205K probably damaging Het
Tex47 C T 5: 7,354,842 (GRCm39) R8W probably benign Het
Tmem198b T C 10: 128,638,156 (GRCm39) T136A probably benign Het
Trim36 T C 18: 46,305,705 (GRCm39) Q414R probably benign Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Ttn A G 2: 76,608,496 (GRCm39) I16063T probably damaging Het
Ttn A G 2: 76,693,905 (GRCm39) V321A possibly damaging Het
Ubox5 A G 2: 130,441,688 (GRCm39) L333P probably damaging Het
Vmn2r19 T A 6: 123,286,602 (GRCm39) Y78* probably null Het
Wnk4 A G 11: 101,166,364 (GRCm39) probably benign Het
Xirp2 A G 2: 67,340,054 (GRCm39) D765G probably damaging Het
Xirp2 G T 2: 67,342,205 (GRCm39) G1482V probably damaging Het
Znhit1 A G 5: 137,015,682 (GRCm39) V2A probably benign Het
Other mutations in Rhou
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01726:Rhou APN 8 124,380,880 (GRCm39) missense possibly damaging 0.60
A5278:Rhou UTSW 8 124,387,730 (GRCm39) missense probably damaging 0.99
R0926:Rhou UTSW 8 124,387,715 (GRCm39) missense probably damaging 1.00
R1467:Rhou UTSW 8 124,388,029 (GRCm39) missense possibly damaging 0.94
R1467:Rhou UTSW 8 124,388,029 (GRCm39) missense possibly damaging 0.94
R1873:Rhou UTSW 8 124,387,990 (GRCm39) missense probably damaging 1.00
R2276:Rhou UTSW 8 124,382,258 (GRCm39) missense probably damaging 1.00
R2937:Rhou UTSW 8 124,387,880 (GRCm39) missense possibly damaging 0.65
R5176:Rhou UTSW 8 124,380,848 (GRCm39) missense possibly damaging 0.90
R6172:Rhou UTSW 8 124,387,903 (GRCm39) missense probably benign 0.07
R7053:Rhou UTSW 8 124,380,934 (GRCm39) intron probably benign
R9185:Rhou UTSW 8 124,387,793 (GRCm39) missense probably damaging 1.00
R9741:Rhou UTSW 8 124,380,914 (GRCm39) missense possibly damaging 0.46
Predicted Primers PCR Primer
(F):5'- TTCCAGAGATTCGACGTCAC -3'
(R):5'- CAGCCTCGTCCATAAAGAGC -3'

Sequencing Primer
(F):5'- AGAGATTCGACGTCACTGCCC -3'
(R):5'- CGTCCATAAAGAGCTGTTGC -3'
Posted On 2016-06-15