Incidental Mutation 'R8504:Arhgdia'
ID 655484
Institutional Source Beutler Lab
Gene Symbol Arhgdia
Ensembl Gene ENSMUSG00000025132
Gene Name Rho GDP dissociation inhibitor alpha
Synonyms 5330430M07Rik, Rho GDIalpha, Rho-GDI
MMRRC Submission 067840-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.638) question?
Stock # R8504 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 120468930-120472450 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120470354 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 135 (K135E)
Ref Sequence ENSEMBL: ENSMUSP00000063714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067936] [ENSMUST00000106197]
AlphaFold Q99PT1
PDB Structure Crystal structure of geranylgeranylated RhoA in complex with RhoGDI in its active GPPNHP-bound form [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000067936
AA Change: K135E

PolyPhen 2 Score 0.343 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000063714
Gene: ENSMUSG00000025132
AA Change: K135E

DomainStartEndE-ValueType
Pfam:Rho_GDI 1 201 5e-99 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106197
AA Change: K135E

PolyPhen 2 Score 0.343 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000101803
Gene: ENSMUSG00000025132
AA Change: K135E

DomainStartEndE-ValueType
Pfam:Rho_GDI 11 201 4.6e-85 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that plays a key role in the regulation of signaling through Rho GTPases. The encoded protein inhibits the disassociation of Rho family members from GDP (guanine diphosphate), thereby maintaining these factors in an inactive state. Activity of this protein is important in a variety of cellular processes, and expression of this gene may be altered in tumors. Mutations in this gene have been found in individuals with nephrotic syndrome, type 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a targeted null mutation develop nephrotic syndrome, including renal tubule dilation and degeneration, leading to premature death from renal failure. Male mice are sterile and female mice exhibit reduced fertility from postimplantation defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 121,922,983 (GRCm39) S1181P probably benign Het
Acvr1c C T 2: 58,173,491 (GRCm39) C337Y probably damaging Het
Adgrf5 A G 17: 43,757,840 (GRCm39) E758G probably benign Het
Akap3 T A 6: 126,841,493 (GRCm39) D37E probably damaging Het
Ano5 A T 7: 51,222,776 (GRCm39) H445L probably benign Het
Ap4b1 T A 3: 103,720,116 (GRCm39) I121N probably damaging Het
Ass1 T C 2: 31,391,544 (GRCm39) F273S possibly damaging Het
Atp8a2 A C 14: 59,885,366 (GRCm39) Y1119* probably null Het
Birc6 T A 17: 74,959,000 (GRCm39) M3839K probably damaging Het
Cacna1a A G 8: 85,365,370 (GRCm39) H2171R probably benign Het
Ccdc90b T A 7: 92,224,545 (GRCm39) D183E probably benign Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Cdh23 T A 10: 60,274,618 (GRCm39) T491S probably benign Het
Cercam T C 2: 29,771,829 (GRCm39) S550P possibly damaging Het
Chd9 A G 8: 91,723,472 (GRCm39) H1019R unknown Het
Coil A T 11: 88,871,980 (GRCm39) K114* probably null Het
Csmd2 A C 4: 128,440,483 (GRCm39) T3183P Het
Cul9 T C 17: 46,814,506 (GRCm39) Y2219C probably damaging Het
Efhd2 G A 4: 141,587,186 (GRCm39) Q199* probably null Het
Elp3 A T 14: 65,785,360 (GRCm39) S499R probably benign Het
Exoc8 T G 8: 125,622,709 (GRCm39) I553L probably benign Het
Fyco1 C A 9: 123,659,142 (GRCm39) V345L probably benign Het
Galr3 T A 15: 78,927,279 (GRCm39) V240E probably damaging Het
Gm21190 A G 5: 15,730,862 (GRCm39) S165P probably benign Het
Gnal T A 18: 67,350,255 (GRCm39) Y372* probably null Het
H2-DMa A G 17: 34,357,416 (GRCm39) N230D probably damaging Het
Hk2 T C 6: 82,721,847 (GRCm39) D164G possibly damaging Het
Ighv3-4 T A 12: 114,217,544 (GRCm39) I16F possibly damaging Het
Ivl T C 3: 92,480,078 (GRCm39) probably benign Het
Klhl8 G A 5: 104,015,814 (GRCm39) T434M probably benign Het
Lct A T 1: 128,215,306 (GRCm39) S1757T probably damaging Het
Lmbr1l T A 15: 98,810,065 (GRCm39) Y132F probably damaging Het
M6pr T C 6: 122,293,029 (GRCm39) V203A possibly damaging Het
Map9 T C 3: 82,284,476 (GRCm39) probably null Het
Muc5ac A T 7: 141,360,892 (GRCm39) D1401V probably damaging Het
Myh7 A G 14: 55,227,786 (GRCm39) S291P probably damaging Het
Nynrin G C 14: 56,107,703 (GRCm39) V937L probably benign Het
Or5d44 C T 2: 88,141,825 (GRCm39) G105D probably benign Het
Or5m3 T G 2: 85,838,149 (GRCm39) F10V probably damaging Het
Pank2 A G 2: 131,135,320 (GRCm39) N386S probably benign Het
Phkg2 G T 7: 127,181,528 (GRCm39) R237L possibly damaging Het
Pkhd1 C T 1: 20,590,432 (GRCm39) V1772I probably benign Het
Plch2 G T 4: 155,068,852 (GRCm39) P1258Q probably benign Het
Plekhm2 A T 4: 141,369,764 (GRCm39) I77N probably damaging Het
Ptprb A G 10: 116,176,936 (GRCm39) T954A probably benign Het
Ranbp3 T C 17: 57,015,273 (GRCm39) V325A probably damaging Het
Rgs10 A T 7: 128,019,793 (GRCm39) S16T probably benign Het
Scaper A T 9: 55,771,722 (GRCm39) V398E probably benign Het
Selenot A G 3: 58,492,698 (GRCm39) I62V probably benign Het
Serpinb9e T A 13: 33,439,092 (GRCm39) C173S probably benign Het
Slc13a3 G T 2: 165,275,999 (GRCm39) T249K probably damaging Het
Slc4a8 T A 15: 100,701,171 (GRCm39) V741D possibly damaging Het
Slco4a1 T C 2: 180,106,592 (GRCm39) V258A probably damaging Het
Sycp2l T G 13: 41,291,390 (GRCm39) L256R probably damaging Het
Tektl1 T C 10: 78,585,038 (GRCm39) D266G probably benign Het
Tektl1 T C 10: 78,586,463 (GRCm39) D196G probably damaging Het
Top2a C T 11: 98,905,567 (GRCm39) V337I probably benign Het
Tut4 T C 4: 108,388,139 (GRCm39) L1160P probably damaging Het
Unc13a A C 8: 72,098,405 (GRCm39) F1127V possibly damaging Het
Wdr25 C T 12: 108,992,393 (GRCm39) Q435* probably null Het
Zc3h7b T G 15: 81,664,719 (GRCm39) L526R probably damaging Het
Zeb1 C A 18: 5,705,127 (GRCm39) T48K possibly damaging Het
Zfhx2 A C 14: 55,303,243 (GRCm39) S1580R probably benign Het
Zfhx3 A G 8: 109,583,549 (GRCm39) I1139V possibly damaging Het
Zfp536 C A 7: 37,179,492 (GRCm39) V1038L probably benign Het
Zfp759 T A 13: 67,286,947 (GRCm39) V166E probably benign Het
Zfp985 A T 4: 147,667,883 (GRCm39) K250N possibly damaging Het
Other mutations in Arhgdia
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00849:Arhgdia APN 11 120,471,065 (GRCm39) missense probably damaging 1.00
IGL01696:Arhgdia APN 11 120,471,202 (GRCm39) utr 5 prime probably benign
IGL01821:Arhgdia APN 11 120,471,031 (GRCm39) missense probably damaging 1.00
IGL02625:Arhgdia APN 11 120,471,039 (GRCm39) missense probably benign 0.01
R1886:Arhgdia UTSW 11 120,470,244 (GRCm39) missense probably benign 0.00
R2520:Arhgdia UTSW 11 120,470,852 (GRCm39) missense probably damaging 1.00
R4709:Arhgdia UTSW 11 120,470,517 (GRCm39) missense probably damaging 1.00
R4940:Arhgdia UTSW 11 120,470,061 (GRCm39) missense probably damaging 1.00
R9134:Arhgdia UTSW 11 120,470,392 (GRCm39) missense probably damaging 1.00
R9456:Arhgdia UTSW 11 120,470,068 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGTTGTAACTGCCCCGAGC -3'
(R):5'- CAGTCGTTTGTCTTGAAGGAAG -3'

Sequencing Primer
(F):5'- AAGCATGCCTTTGGGAGC -3'
(R):5'- GGTGTGGAGTACCGGATAAAAATCTC -3'
Posted On 2020-10-20