Incidental Mutation 'R9192:Rhoq'
ID 697770
Institutional Source Beutler Lab
Gene Symbol Rhoq
Ensembl Gene ENSMUSG00000024143
Gene Name ras homolog family member Q
Synonyms Arhq, TC10
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9192 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 87270539-87307497 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 87304405 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 179 (I179F)
Ref Sequence ENSEMBL: ENSMUSP00000024956 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024956] [ENSMUST00000024957] [ENSMUST00000139344]
AlphaFold Q8R527
Predicted Effect
SMART Domains Protein: ENSMUSP00000024956
Gene: ENSMUSG00000024143
AA Change: I179F

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 benign
Transcript: ENSMUST00000139344
SMART Domains Protein: ENSMUSP00000116780
Gene: ENSMUSG00000024143

DomainStartEndE-ValueType
RHO 12 153 1.91e-84 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 T A 7: 75,354,249 (GRCm39) M71K probably benign Het
Angptl4 C T 17: 34,000,285 (GRCm39) A28T probably benign Het
Baz1b T G 5: 135,239,648 (GRCm39) N249K possibly damaging Het
BC035947 A T 1: 78,475,877 (GRCm39) Y218* probably null Het
Ctbp1 T C 5: 33,408,333 (GRCm39) I211V probably benign Het
Dars1 T C 1: 128,299,889 (GRCm39) E365G probably benign Het
E2f7 G T 10: 110,599,851 (GRCm39) R202L probably damaging Het
Fscb A C 12: 64,520,890 (GRCm39) I192S possibly damaging Het
Fsip2 A G 2: 82,817,844 (GRCm39) I4526V probably benign Het
Gucy2e A T 11: 69,127,303 (GRCm39) F57I probably damaging Het
Hcar2 A T 5: 124,003,354 (GRCm39) C50S possibly damaging Het
Herc1 G A 9: 66,321,413 (GRCm39) V1267I probably benign Het
Kansl1 A T 11: 104,227,142 (GRCm39) D845E probably damaging Het
Kdm2b T A 5: 123,070,679 (GRCm39) T473S probably benign Het
Klhdc10 T A 6: 30,449,499 (GRCm39) I327N probably damaging Het
Kmt5b T C 19: 3,854,442 (GRCm39) L235P probably damaging Het
Lama2 C T 10: 27,204,181 (GRCm39) E486K possibly damaging Het
Lhx6 A T 2: 35,981,145 (GRCm39) W266R probably benign Het
Mettl15 A T 2: 109,104,810 (GRCm39) L65* probably null Het
Mocos A G 18: 24,812,594 (GRCm39) Q496R probably benign Het
Neb T C 2: 52,203,847 (GRCm39) S285G probably damaging Het
Nos3 A G 5: 24,582,611 (GRCm39) N613S probably benign Het
Nphs2 G A 1: 156,138,386 (GRCm39) R10Q probably benign Het
Or2ag16 A G 7: 106,352,430 (GRCm39) L55P probably damaging Het
Or4x13 C A 2: 90,231,716 (GRCm39) T237N probably damaging Het
Or51i2 A T 7: 103,689,875 (GRCm39) I291F possibly damaging Het
Osbpl10 T C 9: 114,996,294 (GRCm39) C119R probably damaging Het
Otop1 T C 5: 38,445,274 (GRCm39) V144A probably benign Het
Ovca2 A G 11: 75,068,862 (GRCm39) V179A possibly damaging Het
Pcdha11 A G 18: 37,140,527 (GRCm39) T719A probably benign Het
Pcdhga1 A G 18: 37,973,084 (GRCm39) N900D probably damaging Het
Pcdhga8 A T 18: 37,859,163 (GRCm39) Q73L probably damaging Het
Pclo A G 5: 14,590,204 (GRCm39) K835E unknown Het
Psmd2 T A 16: 20,473,412 (GRCm39) Y158N probably damaging Het
Pygl A G 12: 70,243,822 (GRCm39) V631A probably damaging Het
Rnf26rt T C 6: 76,473,566 (GRCm39) D350G probably benign Het
Rps6kb1 T C 11: 86,404,381 (GRCm39) I257M probably damaging Het
Sall3 G A 18: 81,017,124 (GRCm39) A268V probably benign Het
Serinc4 G A 2: 121,287,250 (GRCm39) probably benign Het
Slc27a2 T A 2: 126,429,807 (GRCm39) M605K probably damaging Het
Slc5a7 T C 17: 54,594,389 (GRCm39) I197M probably benign Het
Slc6a7 A G 18: 61,133,649 (GRCm39) Y516H probably damaging Het
Spag16 A G 1: 69,963,007 (GRCm39) T385A unknown Het
Stat6 G A 10: 127,493,479 (GRCm39) R600H probably damaging Het
Stk32b A G 5: 37,786,344 (GRCm39) V40A probably damaging Het
Sv2c T A 13: 96,224,755 (GRCm39) I185L probably benign Het
Syne2 T A 12: 76,156,703 (GRCm39) L2115H probably damaging Het
Tas2r121 T C 6: 132,677,492 (GRCm39) E160G probably benign Het
Tle1 G T 4: 72,036,753 (GRCm39) T727K probably benign Het
Tmem79 A T 3: 88,240,764 (GRCm39) D61E probably benign Het
Tnrc18 C A 5: 142,773,602 (GRCm39) R409L Het
Tnrc6a C A 7: 122,789,176 (GRCm39) P1665Q probably damaging Het
Tns2 C A 15: 102,021,416 (GRCm39) P1027Q probably damaging Het
Trav7-5 C G 14: 53,768,615 (GRCm39) A61G probably benign Het
Ttn A G 2: 76,745,255 (GRCm39) S5265P possibly damaging Het
Tuba1c T A 15: 98,935,737 (GRCm39) Y399* probably null Het
Vav2 A T 2: 27,172,394 (GRCm39) I504N probably damaging Het
Vmn2r5 G T 3: 64,398,938 (GRCm39) C680* probably null Het
Zfp644 G C 5: 106,785,829 (GRCm39) S239R probably benign Het
Zfp954 C T 7: 7,118,933 (GRCm39) G204S probably damaging Het
Zswim8 C T 14: 20,769,588 (GRCm39) T1265I 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
R5895:Rhoq UTSW 17 87,302,117 (GRCm39) missense probably damaging 0.99
R6426:Rhoq UTSW 17 87,302,442 (GRCm39) missense probably damaging 0.98
R8978:Rhoq UTSW 17 87,271,767 (GRCm39) missense
R9492:Rhoq UTSW 17 87,304,373 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- CCTCTGGGAATTGTGAAGATGC -3'
(R):5'- AGAATGCTGAGGACAGGTTC -3'

Sequencing Primer
(F):5'- TGGGAATTGTGAAGATGCATAATAAG -3'
(R):5'- GTTAAACTGCTTCACTGTAAGAGGTC -3'
Posted On 2022-02-07