Incidental Mutation 'R5154:Rhod'
ID 396620
Institutional Source Beutler Lab
Gene Symbol Rhod
Ensembl Gene ENSMUSG00000041845
Gene Name ras homolog family member D
Synonyms Arhd
MMRRC Submission 042736-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.177) question?
Stock # R5154 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 4475487-4489460 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 4482122 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 97 (D97E)
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: D97E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036031
Gene: ENSMUSG00000041845
AA Change: D97E

DomainStartEndE-ValueType
RHO 20 193 3.46e-114 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000117462
AA Change: D97E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112607
Gene: ENSMUSG00000041845
AA Change: D97E

DomainStartEndE-ValueType
RHO 20 167 1.09e-79 SMART
low complexity region 176 188 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009N14Rik A C 4: 39,450,938 (GRCm39) H48P probably damaging Het
Angptl7 C T 4: 148,581,882 (GRCm39) R168H probably damaging Het
Ankrd11 A C 8: 123,619,878 (GRCm39) F1325V probably damaging Het
Ankrd13c A G 3: 157,694,297 (GRCm39) D266G possibly damaging Het
Apold1 A T 6: 134,960,636 (GRCm39) H30L possibly damaging Het
Arel1 A G 12: 84,978,547 (GRCm39) F362L probably benign Het
Arhgef4 T A 1: 34,771,455 (GRCm39) M1254K probably benign Het
Arid2 T A 15: 96,299,866 (GRCm39) V1793E probably damaging Het
Bcl7a T C 5: 123,507,422 (GRCm39) S156P probably damaging Het
Cbr3 A G 16: 93,482,027 (GRCm39) I128V probably benign Het
Cct6b G A 11: 82,630,521 (GRCm39) P299L probably damaging Het
Cd180 A T 13: 102,842,282 (GRCm39) N443Y probably damaging Het
Cd80 A G 16: 38,294,342 (GRCm39) K75R probably benign Het
Cdk1 A T 10: 69,176,298 (GRCm39) probably benign Het
Cep192 T A 18: 67,983,755 (GRCm39) F1565I probably damaging Het
Chtf18 T C 17: 25,942,694 (GRCm39) T412A probably damaging Het
Cit T C 5: 116,126,464 (GRCm39) L1590P probably damaging Het
Clcn2 T A 16: 20,522,053 (GRCm39) R845S probably benign Het
Cndp2 C T 18: 84,686,727 (GRCm39) V432I probably benign Het
Cnnm2 A T 19: 46,751,571 (GRCm39) R454W probably benign Het
Cpne8 T G 15: 90,384,121 (GRCm39) I480L probably benign Het
Cr2 A G 1: 194,841,754 (GRCm39) W400R probably damaging Het
Cul5 A G 9: 53,537,167 (GRCm39) L528P probably damaging Het
Dlgap5 C T 14: 47,651,177 (GRCm39) V119M probably damaging Het
Dnah12 T C 14: 26,571,320 (GRCm39) S190P probably benign Het
Dnah3 T A 7: 119,551,642 (GRCm39) K2881N probably damaging Het
Dnmt3a A T 12: 3,946,008 (GRCm39) I288F probably damaging Het
Dse T A 10: 34,029,657 (GRCm39) T478S possibly damaging Het
Edn1 C T 13: 42,458,499 (GRCm39) T104I probably benign Het
Eef2 GCCC GCCCC 10: 81,014,601 (GRCm39) probably null Het
Eprs1 A G 1: 185,145,662 (GRCm39) H1157R probably damaging Het
Fam168b G A 1: 34,857,180 (GRCm39) T179I possibly damaging Het
Fzd5 A G 1: 64,775,131 (GRCm39) V210A probably benign Het
Gm9742 T C 13: 8,085,081 (GRCm39) noncoding transcript Het
Gpc1 G A 1: 92,784,751 (GRCm39) G308D probably damaging Het
Gpr141 C T 13: 19,936,412 (GRCm39) R121K probably benign Het
Greb1l A G 18: 10,458,312 (GRCm39) T30A probably benign Het
Grk3 A T 5: 113,089,583 (GRCm39) I281N probably damaging Het
Hnrnpdl A T 5: 100,184,371 (GRCm39) Y289* probably null Het
Hsf2 T G 10: 57,380,808 (GRCm39) V214G probably benign Het
Igf2bp1 G A 11: 95,854,373 (GRCm39) Q563* probably null Het
Il31ra T A 13: 112,660,531 (GRCm39) D605V possibly damaging Het
Insm2 G A 12: 55,646,982 (GRCm39) C242Y probably damaging Het
Ints3 C T 3: 90,322,868 (GRCm39) V121I probably benign Het
Kcnt2 A T 1: 140,278,994 (GRCm39) L48F possibly damaging Het
Kit G A 5: 75,801,200 (GRCm39) V529M probably damaging Het
Mark2 G A 19: 7,260,439 (GRCm39) P13S probably damaging Het
Mthfsd A G 8: 121,825,479 (GRCm39) V364A probably damaging Het
Mtmr11 C G 3: 96,071,636 (GRCm39) S185R probably benign Het
Myot A G 18: 44,487,281 (GRCm39) I373V probably benign Het
N4bp3 A T 11: 51,536,139 (GRCm39) V231D probably benign Het
Or5t17 T C 2: 86,832,382 (GRCm39) V23A probably benign Het
Or8k39 A T 2: 86,563,121 (GRCm39) Y278* probably null Het
Pdcd6ip A G 9: 113,520,610 (GRCm39) F125L probably damaging Het
Prpf39 A T 12: 65,095,051 (GRCm39) Q124L probably benign Het
Reln A T 5: 22,193,763 (GRCm39) N1398K probably damaging Het
Rxra T C 2: 27,647,880 (GRCm39) probably null Het
Slc1a3 T C 15: 8,672,433 (GRCm39) I349V probably benign Het
Slc37a2 A T 9: 37,142,939 (GRCm39) *502R probably null Het
Slc9b1 T C 3: 135,078,940 (GRCm39) I199T probably damaging Het
Spart C T 3: 55,024,750 (GRCm39) P115L probably damaging Het
Tnpo1 A T 13: 99,006,813 (GRCm39) C205S possibly damaging Het
Tubb1 T A 2: 174,298,657 (GRCm39) I113N probably benign Het
Tyrp1 G A 4: 80,768,954 (GRCm39) V483I probably benign Het
Vwde T C 6: 13,215,757 (GRCm39) S100G probably benign Het
Zfhx3 A T 8: 109,527,207 (GRCm39) I1035F probably damaging Het
Zfp618 G T 4: 63,051,446 (GRCm39) K742N probably damaging Het
Zfp873 T C 10: 81,896,025 (GRCm39) V252A possibly 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
R5436:Rhod UTSW 19 4,476,615 (GRCm39) missense probably benign 0.00
R5887:Rhod UTSW 19 4,489,315 (GRCm39) missense probably damaging 0.99
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'- TATGCCCTCTTAACCACTGAGC -3'
(R):5'- GTGTCAGATCTGTCCTTGCC -3'

Sequencing Primer
(F):5'- TGAGCCATCAGCCCAGTC -3'
(R):5'- AAGCGGTTCCTAAGCCTGG -3'
Posted On 2016-06-21