Incidental Mutation 'R8752:Rhod'
ID 663942
Institutional Source Beutler Lab
Gene Symbol Rhod
Ensembl Gene ENSMUSG00000041845
Gene Name ras homolog family member D
Synonyms Arhd
MMRRC Submission 068595-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.177) question?
Stock # R8752 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 4475487-4489460 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 4476121 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 210 (T210N)
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: T210N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000036031
Gene: ENSMUSG00000041845
AA Change: T210N

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (55/55)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik T C 11: 109,704,396 (GRCm39) K82R probably damaging Het
Acad8 A T 9: 26,896,853 (GRCm39) M202K probably damaging Het
Adam29 A T 8: 56,325,328 (GRCm39) C375* probably null Het
Adat2 A T 10: 13,432,604 (GRCm39) E35D probably benign Het
Afm A C 5: 90,700,424 (GRCm39) E600D probably benign Het
Ahnak T A 19: 8,992,901 (GRCm39) D4728E probably damaging Het
Ak7 AAGGAG AAG 12: 105,713,476 (GRCm39) probably benign Het
Ankrd28 C A 14: 31,477,699 (GRCm39) probably benign Het
Ankrd31 A T 13: 96,916,879 (GRCm39) H131L probably damaging Het
Ano5 T C 7: 51,196,617 (GRCm39) F183L probably damaging Het
Asah1 G A 8: 41,813,314 (GRCm39) S33L possibly damaging Het
Catsperg2 T C 7: 29,404,744 (GRCm39) D773G possibly damaging Het
Ccdc47 A G 11: 106,095,818 (GRCm39) Y293H probably damaging Het
Cd302 A G 2: 60,102,529 (GRCm39) F30S probably damaging Het
Ces1c C G 8: 93,846,964 (GRCm39) A243P probably damaging Het
Deptor A T 15: 55,044,280 (GRCm39) T149S probably benign Het
Dnah14 G A 1: 181,455,581 (GRCm39) R902H probably benign Het
Dnah5 A G 15: 28,290,365 (GRCm39) I1252V probably benign Het
Dnah7c A G 1: 46,711,701 (GRCm39) I2643V probably benign Het
Dnajc4 C T 19: 6,966,801 (GRCm39) V177I probably benign Het
Efhc1 A T 1: 21,059,692 (GRCm39) N581Y probably benign Het
Espl1 A G 15: 102,214,759 (GRCm39) T767A probably damaging Het
Etv6 A G 6: 134,243,391 (GRCm39) E382G probably benign Het
Foxd4 A T 19: 24,878,094 (GRCm39) D35E probably damaging Het
Gata2 T C 6: 88,177,513 (GRCm39) V181A possibly damaging Het
Gm5114 A T 7: 39,057,927 (GRCm39) M564K probably damaging Het
Gpr45 A T 1: 43,071,842 (GRCm39) I162F possibly damaging Het
Hic1 A G 11: 75,060,206 (GRCm39) F47S probably benign Het
Hsf1 C A 15: 76,384,344 (GRCm39) S417* probably null Het
Id4 A T 13: 48,415,065 (GRCm39) H31L possibly damaging Het
Il12rb2 T C 6: 67,328,265 (GRCm39) S322G probably damaging Het
Lcn11 T C 2: 25,668,138 (GRCm39) Y99H probably damaging Het
Mipol1 G A 12: 57,372,367 (GRCm39) R142Q probably damaging Het
Mpp2 A G 11: 101,976,129 (GRCm39) S10P probably benign Het
Muc15 A T 2: 110,561,758 (GRCm39) N65Y possibly damaging Het
Nav3 T C 10: 109,596,165 (GRCm39) probably benign Het
Ndst3 C T 3: 123,342,684 (GRCm39) R709Q probably damaging Het
Nek11 G T 9: 105,225,207 (GRCm39) Q102K probably benign Het
Nhsl1 A G 10: 18,407,113 (GRCm39) N1416D probably benign Het
Or13p3 A C 4: 118,567,083 (GRCm39) T160P probably damaging Het
Or2v1 T A 11: 49,025,505 (GRCm39) V162E possibly damaging Het
Or4c111 T C 2: 88,844,231 (GRCm39) Y59C probably damaging Het
Or5p72 T C 7: 108,022,480 (GRCm39) I234T probably benign Het
Or5w20 T C 2: 87,726,591 (GRCm39) I16T possibly damaging Het
Parp4 G T 14: 56,886,073 (GRCm39) E1717D unknown Het
Pla2g4d A T 2: 120,099,248 (GRCm39) probably null Het
Pramel52-ps A T 5: 94,529,354 (GRCm39) R41S possibly damaging Het
Psmc2 A G 5: 22,001,533 (GRCm39) I107V probably benign Het
Setx A T 2: 29,048,992 (GRCm39) D2006V probably damaging Het
Sfpq T A 4: 126,919,969 (GRCm39) M541K possibly damaging Het
Sorbs1 C T 19: 40,349,872 (GRCm39) probably null Het
Sv2b C A 7: 74,855,842 (GRCm39) M149I possibly damaging Het
Svil T A 18: 5,060,366 (GRCm39) probably benign Het
Vmn1r216 G T 13: 23,283,880 (GRCm39) V188F probably damaging Het
Vmn2r27 A G 6: 124,201,018 (GRCm39) F313S probably benign Het
Vmn2r44 A G 7: 8,370,805 (GRCm39) F747S probably damaging Het
Vmn2r95 T C 17: 18,661,738 (GRCm39) S495P probably damaging Het
Xpo5 C T 17: 46,547,838 (GRCm39) probably benign Het
Zscan20 A C 4: 128,479,480 (GRCm39) C1004G 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
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
R9732:Rhod UTSW 19 4,476,740 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGGTTCCAGAGCTAAGGGTC -3'
(R):5'- ATAGTAGCTCCTACTGCTCTTTGG -3'

Sequencing Primer
(F):5'- AATCCAGGATTCCTCGGTCCAG -3'
(R):5'- TCCATGACAACGTGGAAG -3'
Posted On 2021-03-08