Incidental Mutation 'R5895:Rhoq'
ID 457481
Institutional Source Beutler Lab
Gene Symbol Rhoq
Ensembl Gene ENSMUSG00000024143
Gene Name ras homolog family member Q
Synonyms Arhq, TC10
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5895 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 87270539-87307497 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 87302117 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 111 (A111V)
Ref Sequence ENSEMBL: ENSMUSP00000116780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024956] [ENSMUST00000024957] [ENSMUST00000139344]
AlphaFold Q8R527
Predicted Effect probably damaging
Transcript: ENSMUST00000024956
AA Change: A111V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000024956
Gene: ENSMUSG00000024143
AA Change: A111V

DomainStartEndE-ValueType
RHO 12 185 5.31e-124 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000024957
SMART Domains Protein: ENSMUSP00000024957
Gene: ENSMUSG00000024145

DomainStartEndE-ValueType
Pfam:PIG-F 21 204 1.6e-50 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000139344
AA Change: A111V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000116780
Gene: ENSMUSG00000024143
AA Change: A111V

DomainStartEndE-ValueType
RHO 12 153 1.91e-84 SMART
Meta Mutation Damage Score 0.2718 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.3%
  • 20x: 91.7%
Validation Efficiency 98% (64/65)
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 small GTPases, which cycle between inactive GDP-bound and active GTP-bound states and function as molecular switches in signal transduction cascades. Rho proteins promote reorganization of the actin cytoskeleton and regulate cell shape, attachment, and motility. The encoded protein is an important signalling protein for sarcomere assembly and has been shown to play a significant role in the exocytosis of the solute carrier family 2, facilitated glucose transporter member 4 and other proteins, possibly acting as the signal that turns on the membrane fusion machinery. Three related pseudogene have been identified on chromosomes 2 and 14. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G A 5: 8,752,216 (GRCm39) G426S probably damaging Het
Casp4 A T 9: 5,328,573 (GRCm39) probably benign Het
Ccdc40 T A 11: 119,144,229 (GRCm39) F988Y probably damaging Het
Ccdc9b T C 2: 118,590,098 (GRCm39) T249A probably benign Het
Chd5 T A 4: 152,464,389 (GRCm39) V1516E probably benign Het
Chrnd T A 1: 87,123,389 (GRCm39) probably null Het
Col5a3 C A 9: 20,683,738 (GRCm39) G1506V unknown Het
Csgalnact2 A T 6: 118,106,215 (GRCm39) C34* probably null Het
Ddx23 T C 15: 98,549,832 (GRCm39) K195E probably benign Het
Dhps T G 8: 85,800,880 (GRCm39) S240A probably benign Het
Dnah5 T A 15: 28,234,599 (GRCm39) probably null Het
Dock10 T C 1: 80,514,676 (GRCm39) T1414A probably benign Het
Dock4 A G 12: 40,805,812 (GRCm39) D928G probably damaging Het
Dolpp1 T C 2: 30,285,658 (GRCm39) probably benign Het
Dse T A 10: 34,028,601 (GRCm39) I830F probably damaging Het
Elmod1 C T 9: 53,843,091 (GRCm39) R29Q probably damaging Het
Ephx4 T A 5: 107,577,518 (GRCm39) probably null Het
Evi5 A T 5: 107,968,302 (GRCm39) M215K probably damaging Het
Fbxl4 T C 4: 22,390,678 (GRCm39) L287P probably damaging Het
Gbp9 G A 5: 105,230,724 (GRCm39) S400L probably damaging Het
Gm6291 T C 18: 6,371,365 (GRCm39) noncoding transcript Het
Gmcl1 A T 6: 86,688,596 (GRCm39) D301E probably benign Het
Gna14 C T 19: 16,580,692 (GRCm39) R177C possibly damaging Het
Golph3 C T 15: 12,339,756 (GRCm39) R90C probably damaging Het
Gpr142 T A 11: 114,689,785 (GRCm39) C12* probably null Het
Hat1 T A 2: 71,239,357 (GRCm39) N43K possibly damaging Het
Hivep1 A T 13: 42,310,694 (GRCm39) E978V possibly damaging Het
Hormad1 G A 3: 95,467,044 (GRCm39) probably null Het
Kalrn C T 16: 33,795,805 (GRCm39) probably benign Het
Mars1 T C 10: 127,132,418 (GRCm39) T860A probably benign Het
Mdn1 A T 4: 32,695,400 (GRCm39) L1146F probably damaging Het
Met A G 6: 17,531,581 (GRCm39) T620A probably benign Het
Mppe1 T C 18: 67,358,834 (GRCm39) E378G probably benign Het
Mybpc3 T A 2: 90,955,010 (GRCm39) V481D probably damaging Het
Myh14 A T 7: 44,256,133 (GRCm39) L1924Q probably damaging Het
Mylip G T 13: 45,562,178 (GRCm39) E327* probably null Het
Naip1 C T 13: 100,559,636 (GRCm39) G1123R probably benign Het
Naip6 A G 13: 100,452,500 (GRCm39) V187A possibly damaging Het
Ncam1 T A 9: 49,418,343 (GRCm39) T986S probably benign Het
Or13p4 T C 4: 118,547,314 (GRCm39) I112V probably damaging Het
Or4x13 T C 2: 90,231,800 (GRCm39) I265T probably benign Het
Phactr2 C T 10: 13,121,261 (GRCm39) G480S probably damaging Het
Por A G 5: 135,744,838 (GRCm39) I34V probably benign Het
Ppp2r5b C T 19: 6,284,764 (GRCm39) R33H probably damaging Het
Prkdc C A 16: 15,570,693 (GRCm39) Y2325* probably null Het
Prx A G 7: 27,214,709 (GRCm39) E73G probably damaging Het
Rbms2 C A 10: 127,981,556 (GRCm39) A126S possibly damaging Het
Rpl14 T A 9: 120,403,240 (GRCm39) probably benign Het
Serbp1 A G 6: 67,249,870 (GRCm39) *75W probably null Het
Sptbn1 C A 11: 30,073,978 (GRCm39) V1351F probably damaging Het
Supt16 A G 14: 52,401,979 (GRCm39) V897A probably benign Het
Tfdp1 T A 8: 13,407,038 (GRCm39) probably null Het
Ttn T A 2: 76,780,487 (GRCm39) Y1088F probably damaging Het
Vmn2r105 G T 17: 20,448,929 (GRCm39) Q83K probably benign Het
Wdr76 A T 2: 121,359,323 (GRCm39) S221C probably damaging Het
Zfhx2 G T 14: 55,303,348 (GRCm39) F1545L probably benign Het
Zfp318 A G 17: 46,709,959 (GRCm39) I561V probably damaging Het
Other mutations in Rhoq
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02502:Rhoq APN 17 87,271,077 (GRCm39) missense probably damaging 0.99
IGL03160:Rhoq APN 17 87,304,349 (GRCm39) missense probably damaging 1.00
R1928:Rhoq UTSW 17 87,302,486 (GRCm39) missense probably benign 0.01
R4595:Rhoq UTSW 17 87,271,754 (GRCm39) missense probably benign 0.04
R4913:Rhoq UTSW 17 87,302,493 (GRCm39) missense probably benign 0.09
R5445:Rhoq UTSW 17 87,271,755 (GRCm39) missense probably benign 0.01
R5622:Rhoq UTSW 17 87,304,459 (GRCm39) missense probably benign 0.00
R6426:Rhoq UTSW 17 87,302,442 (GRCm39) missense probably damaging 0.98
R8978:Rhoq UTSW 17 87,271,767 (GRCm39) missense
R9192:Rhoq UTSW 17 87,304,405 (GRCm39) missense
R9492:Rhoq UTSW 17 87,304,373 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- TCGCTATTAATCTGTGGACCGG -3'
(R):5'- GGGTCATCTCGGAGATCAATC -3'

Sequencing Primer
(F):5'- CTGTGGACCGGTAAGTATAAATAATG -3'
(R):5'- CCAATGCATATAGTCCCATTTAGTC -3'
Posted On 2017-02-15