Incidental Mutation 'R1330:Rhod'
ID 156165
Institutional Source Beutler Lab
Gene Symbol Rhod
Ensembl Gene ENSMUSG00000041845
Gene Name ras homolog family member D
Synonyms Arhd
MMRRC Submission 039395-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.177) question?
Stock # R1330 (G1)
Quality Score 218
Status Validated
Chromosome 19
Chromosomal Location 4475487-4489460 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 4476182 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 190 (A190S)
Ref Sequence ENSEMBL: ENSMUSP00000036031 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048197] [ENSMUST00000117462]
AlphaFold P97348
Predicted Effect probably damaging
Transcript: ENSMUST00000048197
AA Change: A190S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000036031
Gene: ENSMUSG00000041845
AA Change: A190S

DomainStartEndE-ValueType
RHO 20 193 3.46e-114 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117462
SMART Domains Protein: ENSMUSP00000112607
Gene: ENSMUSG00000041845

DomainStartEndE-ValueType
RHO 20 167 1.09e-79 SMART
low complexity region 176 188 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151420
Meta Mutation Damage Score 0.4860 question?
Coding Region Coverage
  • 1x: 98.5%
  • 3x: 97.2%
  • 10x: 92.6%
  • 20x: 82.0%
Validation Efficiency 100% (40/40)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933421I07Rik T C 7: 42,097,018 (GRCm39) T98A probably benign Het
Adgre4 T A 17: 56,085,814 (GRCm39) C38S probably benign Het
Adgrf3 T A 5: 30,400,093 (GRCm39) T83S probably benign Het
Arhgef40 T C 14: 52,227,613 (GRCm39) V453A probably benign Het
Art4 A T 6: 136,831,339 (GRCm39) probably benign Het
Cdhr2 A G 13: 54,882,081 (GRCm39) K1177R possibly damaging Het
Ddx41 G A 13: 55,682,293 (GRCm39) R205W possibly damaging Het
Ddx6 T C 9: 44,539,070 (GRCm39) probably benign Het
Dolk A T 2: 30,175,112 (GRCm39) V311E probably damaging Het
Dstyk A G 1: 132,377,618 (GRCm39) N408S probably benign Het
Efcab3 A G 11: 104,637,116 (GRCm39) Y1049C possibly damaging Het
Eva1c A C 16: 90,701,284 (GRCm39) E318D probably damaging Het
Frem3 T A 8: 81,395,468 (GRCm39) W1832R probably damaging Het
Jup A T 11: 100,263,502 (GRCm39) I689N probably benign Het
Kcnh7 A G 2: 62,607,755 (GRCm39) S609P possibly damaging Het
Lrch4 G A 5: 137,636,051 (GRCm39) R368Q probably damaging Het
Ncbp1 G A 4: 46,167,354 (GRCm39) V586M probably benign Het
Ncstn C T 1: 171,899,092 (GRCm39) M346I probably damaging Het
Osbpl1a A G 18: 13,015,251 (GRCm39) probably null Het
Pcdh12 A G 18: 38,414,914 (GRCm39) V737A probably benign Het
Pds5b T A 5: 150,684,542 (GRCm39) M600K probably damaging Het
Rbm25 A G 12: 83,724,666 (GRCm39) D805G probably damaging Het
Rfx7 C T 9: 72,524,547 (GRCm39) T579I probably benign Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Slc22a2 A C 17: 12,805,699 (GRCm39) D150A possibly damaging Het
Spink11 A G 18: 44,329,195 (GRCm39) I17T unknown Het
Tas1r2 A G 4: 139,396,640 (GRCm39) I660V probably benign Het
Utp20 G A 10: 88,637,051 (GRCm39) P720L probably damaging Het
Vmn1r1 A T 1: 181,985,572 (GRCm39) L31H probably damaging Het
Vmn2r23 T C 6: 123,718,963 (GRCm39) L772P probably damaging Het
Wap T C 11: 6,586,818 (GRCm39) T94A unknown Het
Wdr47 T C 3: 108,537,069 (GRCm39) S586P probably benign Het
Zfp318 A G 17: 46,724,684 (GRCm39) Y2229C possibly damaging Het
Zfp429 T C 13: 67,544,262 (GRCm39) probably null 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
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
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'- TCAATCCAGGATTCCTCGGTCCAG -3'
(R):5'- AATGTGAGTTTCACCCCGCATCCC -3'

Sequencing Primer
(F):5'- TCATTGGAGCCCATCTGTG -3'
(R):5'- CAAACTCATAGTAGCTCCTACTGCTC -3'
Posted On 2014-02-11