Incidental Mutation 'R5887:Rhod'
ID 456192
Institutional Source Beutler Lab
Gene Symbol Rhod
Ensembl Gene ENSMUSG00000041845
Gene Name ras homolog family member D
Synonyms Arhd
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R5887 (G1)
Quality Score 202
Status Not validated
Chromosome 19
Chromosomal Location 4475487-4489460 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 4489315 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 22 (L22Q)
Ref Sequence ENSEMBL: ENSMUSP00000112607 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048197] [ENSMUST00000117462]
AlphaFold P97348
Predicted Effect probably damaging
Transcript: ENSMUST00000048197
AA Change: L22Q

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000036031
Gene: ENSMUSG00000041845
AA Change: L22Q

DomainStartEndE-ValueType
RHO 20 193 3.46e-114 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000117462
AA Change: L22Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112607
Gene: ENSMUSG00000041845
AA Change: L22Q

DomainStartEndE-ValueType
RHO 20 167 1.09e-79 SMART
low complexity region 176 188 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132579
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133871
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154407
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 91.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ras homolog, or Rho, proteins interact with protein kinases and may serve as targets for activated GTPase. They play a critical role in muscle differentiation. The protein encoded by this gene binds GTP and is a member of the small GTPase superfamily. It is involved in endosome dynamics and reorganization of the actin cytoskeleton, and it may coordinate membrane transport with the function of the cytoskeleton. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik C T 6: 91,892,124 (GRCm39) Q129* probably null Het
Acad8 A T 9: 26,890,620 (GRCm39) probably null Het
AK157302 T C 13: 21,679,579 (GRCm39) I35T possibly damaging Het
Arfgef3 G T 10: 18,483,413 (GRCm39) S1437* probably null Het
Calcrl A T 2: 84,200,841 (GRCm39) W68R probably damaging Het
Cd200l1 T A 16: 45,238,279 (GRCm39) L178F probably damaging Het
Cd59a A G 2: 103,934,546 (GRCm39) R5G probably damaging Het
Chl1 C T 6: 103,694,565 (GRCm39) A1091V probably benign Het
Copg1 T C 6: 87,879,279 (GRCm39) F442L probably damaging Het
Creld1 T C 6: 113,469,860 (GRCm39) *421Q probably null Het
Crocc2 T A 1: 93,121,838 (GRCm39) H662Q possibly damaging Het
Csf2ra G A 19: 61,215,766 (GRCm39) A13V possibly damaging Het
Cul3 T C 1: 80,254,139 (GRCm39) T546A possibly damaging Het
Dnah8 C T 17: 31,013,691 (GRCm39) P3811S probably damaging Het
Dock6 T A 9: 21,731,690 (GRCm39) H1173L probably damaging Het
Dpysl4 T C 7: 138,676,192 (GRCm39) I328T possibly damaging Het
Dspp G A 5: 104,323,321 (GRCm39) G155R probably damaging Het
Fbxo33 A T 12: 59,251,545 (GRCm39) C57* probably null Het
Frrs1 T A 3: 116,690,399 (GRCm39) V14D probably benign Het
Gm13199 C T 2: 5,867,113 (GRCm39) G96S unknown Het
Gpr155 A T 2: 73,174,062 (GRCm39) C754* probably null Het
Gpr62 A T 9: 106,342,814 (GRCm39) V38E probably damaging Het
Kcnt2 C A 1: 140,353,104 (GRCm39) P271H probably damaging Het
Kpna3 C T 14: 61,640,461 (GRCm39) V34I probably benign Het
Lamb1 C T 12: 31,316,863 (GRCm39) Q71* probably null Het
Lipk T C 19: 34,016,507 (GRCm39) I245T possibly damaging Het
Lrp1b T G 2: 40,711,719 (GRCm39) N3281T possibly damaging Het
Lrp5 A C 19: 3,654,094 (GRCm39) I1111S probably benign Het
Mmrn1 T C 6: 60,964,058 (GRCm39) V1020A probably benign Het
Or4c107 G A 2: 88,789,098 (GRCm39) C96Y possibly damaging Het
Or8b48 G A 9: 38,493,080 (GRCm39) C169Y probably damaging Het
Or8g34 T C 9: 39,372,787 (GRCm39) L17P probably damaging Het
Pcdha7 A T 18: 37,108,960 (GRCm39) T662S probably damaging Het
Pcdhga6 A G 18: 37,841,612 (GRCm39) D444G probably damaging Het
Pkd2 T G 5: 104,646,405 (GRCm39) D737E probably damaging Het
Plcd4 C T 1: 74,590,249 (GRCm39) R161W probably damaging Het
Prpf8 A G 11: 75,391,734 (GRCm39) Y1494C possibly damaging Het
Rad17 A C 13: 100,770,369 (GRCm39) probably null Het
Rbm17 A T 2: 11,590,485 (GRCm39) F390Y probably damaging Het
Serpina1f T C 12: 103,656,046 (GRCm39) D394G possibly damaging Het
Serpina1f G A 12: 103,659,890 (GRCm39) Q131* probably null Het
Spocd1 A T 4: 129,842,752 (GRCm39) S56C probably damaging Het
St7l G A 3: 104,782,244 (GRCm39) R207H probably benign Het
Tasor T A 14: 27,188,254 (GRCm39) L900* probably null Het
Tbx18 T C 9: 87,595,566 (GRCm39) D336G possibly damaging Het
Tfg A T 16: 56,514,779 (GRCm39) Y135* probably null Het
Tjp2 A G 19: 24,073,963 (GRCm39) L1108P probably benign Het
Tmem150c C A 5: 100,243,524 (GRCm39) V8L probably benign Het
Ttn A T 2: 76,746,789 (GRCm39) H4753Q probably benign Het
Tyw1 T A 5: 130,354,540 (GRCm39) I589N probably damaging Het
Usp40 C T 1: 87,927,592 (GRCm39) R139Q probably damaging Het
Zgrf1 A G 3: 127,378,414 (GRCm39) Y174C probably damaging Het
Other mutations in Rhod
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01612:Rhod APN 19 4,476,247 (GRCm39) missense probably damaging 1.00
IGL02610:Rhod APN 19 4,476,203 (GRCm39) missense probably damaging 1.00
IGL03164:Rhod APN 19 4,482,829 (GRCm39) missense possibly damaging 0.83
IGL03409:Rhod APN 19 4,482,186 (GRCm39) missense probably damaging 0.99
R1330:Rhod UTSW 19 4,476,182 (GRCm39) missense probably damaging 1.00
R5154:Rhod UTSW 19 4,482,122 (GRCm39) missense probably damaging 1.00
R5436:Rhod UTSW 19 4,476,615 (GRCm39) missense probably benign 0.00
R6429:Rhod UTSW 19 4,476,133 (GRCm39) missense probably benign 0.00
R8478:Rhod UTSW 19 4,476,719 (GRCm39) missense probably damaging 1.00
R8752:Rhod UTSW 19 4,476,121 (GRCm39) missense probably damaging 1.00
R9732:Rhod UTSW 19 4,476,740 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTTTGCTTCTACTGGCTAAAACTG -3'
(R):5'- TGAGTGTCTAGACAGGACGC -3'

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