Incidental Mutation 'R5176:Rhou'
ID 399293
Institutional Source Beutler Lab
Gene Symbol Rhou
Ensembl Gene ENSMUSG00000039960
Gene Name ras homolog family member U
Synonyms 2310026M05Rik, WRCH-1, mG28K, CDC42L1, WRCH1, Arhu
MMRRC Submission 042756-MU
Accession Numbers

Genbank: NM_133955; MGI: 1916831

Essential gene? Non essential (E-score: 0.000) question?
Stock # R5176 (G1)
Quality Score 152
Status Not validated
Chromosome 8
Chromosomal Location 123653929-123663884 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 123654109 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 55 (C55F)
Ref Sequence ENSEMBL: ENSMUSP00000038915 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045487] [ENSMUST00000127664]
AlphaFold Q9EQT3
Predicted Effect possibly damaging
Transcript: ENSMUST00000045487
AA Change: C55F

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000038915
Gene: ENSMUSG00000039960
AA Change: C55F

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

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136615
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 99% (69/70)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530032D15Rik C T 1: 85,088,800 (GRCm38) probably benign Het
Abca7 C A 10: 79,998,289 (GRCm38) H116Q probably benign Het
Akap12 G T 10: 4,353,947 (GRCm38) E252D probably benign Het
Apobr A G 7: 126,585,016 (GRCm38) D2G probably damaging Het
Arhgef12 A T 9: 43,020,686 (GRCm38) H168Q probably damaging Het
Asb3 T A 11: 31,081,357 (GRCm38) probably null Het
Brip1 T C 11: 86,077,884 (GRCm38) Y825C probably damaging Het
Cacna1b A T 2: 24,635,131 (GRCm38) Y1679N probably damaging Het
Ccdc69 C T 11: 55,060,470 (GRCm38) A42T probably benign Het
Cds1 G T 5: 101,781,420 (GRCm38) D55Y possibly damaging Het
Cep135 C A 5: 76,637,026 (GRCm38) D989E probably benign Het
Cpsf6 C A 10: 117,361,284 (GRCm38) probably benign Het
Ctif C T 18: 75,637,219 (GRCm38) V32M probably damaging Het
Cylc2 T C 4: 51,228,587 (GRCm38) probably benign Het
Dao T C 5: 114,020,009 (GRCm38) probably null Het
Dopey1 T A 9: 86,521,815 (GRCm38) N1689K probably damaging Het
Dopey2 A G 16: 93,740,043 (GRCm38) Y14C probably damaging Het
E130309D02Rik G T 5: 143,315,075 (GRCm38) S7* probably null Het
Fam160b1 A G 19: 57,371,181 (GRCm38) N51S probably damaging Het
Fam187a C T 11: 102,886,464 (GRCm38) R365C probably damaging Het
Fastkd2 A G 1: 63,731,439 (GRCm38) probably benign Het
Fkbp15 G T 4: 62,312,323 (GRCm38) L718I possibly damaging Het
Gabbr2 C A 4: 46,681,208 (GRCm38) V118F probably damaging Het
Gm11492 T A 11: 87,567,532 (GRCm38) M244K probably benign Het
Gm13991 T A 2: 116,528,027 (GRCm38) noncoding transcript Het
H2-M9 T C 17: 36,641,631 (GRCm38) I174M probably damaging Het
Insr T A 8: 3,158,742 (GRCm38) M1240L probably benign Het
Itgb4 C T 11: 115,984,157 (GRCm38) R447W probably benign Het
Mad2l1bp T A 17: 46,152,812 (GRCm38) E95D probably benign Het
March9 T C 10: 127,059,450 (GRCm38) D102G probably benign Het
Muc19 A G 15: 91,892,180 (GRCm38) noncoding transcript Het
Nr1h4 T A 10: 89,498,255 (GRCm38) Y91F probably benign Het
Nr5a2 A T 1: 136,948,802 (GRCm38) M1K probably null Het
Olfr561 T A 7: 102,775,306 (GRCm38) S261T probably damaging Het
Olfr836 A T 9: 19,121,360 (GRCm38) Y132F probably damaging Het
Olfr998 A C 2: 85,591,435 (GRCm38) K298N possibly damaging Het
Oprd1 T C 4: 132,113,793 (GRCm38) T285A probably benign Het
Optc T C 1: 133,902,084 (GRCm38) N196S probably benign Het
Panx2 G T 15: 89,060,228 (GRCm38) R52L probably damaging Het
Pdzd8 A G 19: 59,344,957 (GRCm38) F211L probably damaging Het
Pot1b T A 17: 55,699,995 (GRCm38) T41S probably benign Het
Prss56 T C 1: 87,184,158 (GRCm38) L37S probably damaging Het
Ptk2b T C 14: 66,156,415 (GRCm38) T870A probably damaging Het
Rabep2 C A 7: 126,434,293 (GRCm38) probably benign Het
Rbm48 A C 5: 3,595,444 (GRCm38) V80G probably damaging Het
Rnaseh2c A G 19: 5,602,042 (GRCm38) D45G probably benign Het
Rusc1 A G 3: 89,089,082 (GRCm38) S109P probably damaging Het
Ryr3 T C 2: 112,757,667 (GRCm38) D2643G possibly damaging Het
Sik2 T C 9: 50,899,403 (GRCm38) E471G probably benign Het
Sipa1 A G 19: 5,659,378 (GRCm38) S310P probably damaging Het
Spen T C 4: 141,476,276 (GRCm38) E1680G unknown Het
Steap3 C T 1: 120,243,767 (GRCm38) probably null Het
Tmeff2 T A 1: 51,071,541 (GRCm38) C171* probably null Het
Tmem138 A T 19: 10,575,270 (GRCm38) M33K probably benign Het
Trappc11 C A 8: 47,510,963 (GRCm38) V601L possibly damaging Het
Ttc30a2 T C 2: 75,977,077 (GRCm38) M364V probably benign Het
Ttll4 C A 1: 74,679,286 (GRCm38) H99N probably damaging Het
Uchl4 A T 9: 64,235,740 (GRCm38) K168* probably null Het
Wdr17 C T 8: 54,653,878 (GRCm38) probably null Het
Xpo1 A G 11: 23,295,977 (GRCm38) D1029G probably damaging Het
Zfp719 G T 7: 43,591,125 (GRCm38) K712N probably damaging Het
Other mutations in Rhou
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01726:Rhou APN 8 123,654,141 (GRCm38) missense possibly damaging 0.60
A5278:Rhou UTSW 8 123,660,991 (GRCm38) missense probably damaging 0.99
R0926:Rhou UTSW 8 123,660,976 (GRCm38) missense probably damaging 1.00
R1467:Rhou UTSW 8 123,661,290 (GRCm38) missense possibly damaging 0.94
R1467:Rhou UTSW 8 123,661,290 (GRCm38) missense possibly damaging 0.94
R1873:Rhou UTSW 8 123,661,251 (GRCm38) missense probably damaging 1.00
R2276:Rhou UTSW 8 123,655,519 (GRCm38) missense probably damaging 1.00
R2937:Rhou UTSW 8 123,661,141 (GRCm38) missense possibly damaging 0.65
R5107:Rhou UTSW 8 123,661,173 (GRCm38) nonsense probably null
R6172:Rhou UTSW 8 123,661,164 (GRCm38) missense probably benign 0.07
R7053:Rhou UTSW 8 123,654,195 (GRCm38) intron probably benign
R9185:Rhou UTSW 8 123,661,054 (GRCm38) missense probably damaging 1.00
R9741:Rhou UTSW 8 123,654,175 (GRCm38) missense possibly damaging 0.46
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-07-06