Incidental Mutation 'R6172:Rhou'
ID 488252
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 044315-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6172 (G1)
Quality Score 139.008
Status Validated
Chromosome 8
Chromosomal Location 124380668-124390623 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 124387903 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 212 (K212E)
Ref Sequence ENSEMBL: ENSMUSP00000038915 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045487] [ENSMUST00000127664]
AlphaFold Q9EQT3
Predicted Effect probably benign
Transcript: ENSMUST00000045487
AA Change: K212E

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000038915
Gene: ENSMUSG00000039960
AA Change: K212E

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 0.1558 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.5%
Validation Efficiency 100% (44/44)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap42 A T 9: 9,148,246 (GRCm39) C108S possibly damaging Het
Bbs2 T C 8: 94,814,039 (GRCm39) E193G probably benign Het
Bpifb2 C A 2: 153,732,332 (GRCm39) H310Q probably benign Het
Cand2 A G 6: 115,768,271 (GRCm39) E472G probably benign Het
Cd81 A G 7: 142,606,691 (GRCm39) probably benign Het
Chd5 A T 4: 152,463,848 (GRCm39) H1476L probably damaging Het
Clpx C A 9: 65,209,161 (GRCm39) S92* probably null Het
Cstf3 T C 2: 104,481,987 (GRCm39) V276A probably damaging Het
Ehd4 G A 2: 119,932,737 (GRCm39) Q230* probably null Het
Erich3 A G 3: 154,469,978 (GRCm39) T4A possibly damaging Het
Erlin2 T G 8: 27,526,123 (GRCm39) probably null Het
Exosc1 C A 19: 41,912,442 (GRCm39) Q148H probably damaging Het
Fbxw27 A T 9: 109,601,337 (GRCm39) V261E probably damaging Het
Flrt2 T A 12: 95,746,305 (GRCm39) N214K probably damaging Het
Foxp1 G A 6: 98,992,471 (GRCm39) Q41* probably null Het
Foxp1 C A 6: 98,992,475 (GRCm39) probably null Het
Frk T C 10: 34,467,961 (GRCm39) L325P probably damaging Het
Gm21698 T C 5: 26,192,371 (GRCm39) I72V probably benign Het
Gm39115 A T 7: 141,689,651 (GRCm39) C41S unknown Het
Hectd1 G A 12: 51,816,065 (GRCm39) P1336S probably damaging Het
Ighv7-1 T C 12: 113,860,183 (GRCm39) S70G probably damaging Het
Itga10 T C 3: 96,554,753 (GRCm39) I78T probably benign Het
Itgb4 A G 11: 115,891,237 (GRCm39) H1218R probably benign Het
Marchf6 A T 15: 31,483,013 (GRCm39) N463K possibly damaging Het
Muc5b A C 7: 141,412,513 (GRCm39) T1820P unknown Het
Nfatc4 A G 14: 56,066,990 (GRCm39) T510A possibly damaging Het
Nwd2 G T 5: 63,964,249 (GRCm39) V1278F probably damaging Het
Or52n2c A C 7: 104,574,503 (GRCm39) M156R probably benign Het
Or7g19 A G 9: 18,856,042 (GRCm39) T33A probably benign Het
P2rx1 G A 11: 72,900,856 (GRCm39) V209M probably damaging Het
Pkn1 T C 8: 84,397,384 (GRCm39) K874R possibly damaging Het
Plec C T 15: 76,056,576 (GRCm39) V4444I probably damaging Het
Ppp1r37 A T 7: 19,266,329 (GRCm39) M479K possibly damaging Het
Prr11 A C 11: 86,994,449 (GRCm39) F66V probably benign Het
Rbbp5 A G 1: 132,424,554 (GRCm39) D268G possibly damaging Het
Rbbp6 T A 7: 122,597,778 (GRCm39) Y734* probably null Het
Rc3h2 GCC GCCC 2: 37,304,745 (GRCm39) probably null Het
Rsph1 G A 17: 31,492,392 (GRCm39) T58I probably benign Het
Serpina3m A G 12: 104,355,486 (GRCm39) N51S probably damaging Het
Shisa6 A T 11: 66,108,832 (GRCm39) D348E probably benign Het
Slc6a5 T A 7: 49,598,081 (GRCm39) Y648* probably null Het
Stag3 A G 5: 138,298,105 (GRCm39) D699G probably benign Het
Terf2ip A T 8: 112,744,649 (GRCm39) D322V probably damaging Het
Vmn1r125 A T 7: 21,006,275 (GRCm39) M58L probably benign Het
Wdr49 T A 3: 75,205,487 (GRCm39) D643V probably damaging 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
R5107:Rhou UTSW 8 124,387,912 (GRCm39) nonsense probably null
R5176:Rhou UTSW 8 124,380,848 (GRCm39) missense possibly damaging 0.90
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'- AGTGGGTTCCAGAGATTCGAC -3'
(R):5'- CGTCCATAAAGAGCTGTTGC -3'

Sequencing Primer
(F):5'- GTTCCAGAGATTCGACGTCACTG -3'
(R):5'- GCAGCTTAAACACCTGCTATTTG -3'
Posted On 2017-10-10