Incidental Mutation 'R4709:Arhgdia'
ID 355501
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 042018-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.708) question?
Stock # R4709 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 120468930-120472450 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120470517 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 110 (Y110H)
Ref Sequence ENSEMBL: ENSMUSP00000101803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067936] [ENSMUST00000106197]
AlphaFold Q99PT1
Predicted Effect probably damaging
Transcript: ENSMUST00000067936
AA Change: Y110H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063714
Gene: ENSMUSG00000025132
AA Change: Y110H

DomainStartEndE-ValueType
Pfam:Rho_GDI 1 201 5e-99 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106197
AA Change: Y110H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101803
Gene: ENSMUSG00000025132
AA Change: Y110H

DomainStartEndE-ValueType
Pfam:Rho_GDI 11 201 4.6e-85 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193520
Meta Mutation Damage Score 0.9201 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency 97% (77/79)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 G A 17: 36,271,069 (GRCm39) T463M probably damaging Het
Arhgap35 C T 7: 16,297,511 (GRCm39) G518D probably damaging Het
Atp8b3 T C 10: 80,372,604 (GRCm39) probably null Het
Bpifb6 T A 2: 153,750,436 (GRCm39) I309N possibly damaging Het
Cbr4 T C 8: 61,943,061 (GRCm39) V77A possibly damaging Het
Cers2 A G 3: 95,227,534 (GRCm39) Y54C possibly damaging Het
Cnbp A T 6: 87,821,120 (GRCm39) H145Q probably damaging Het
Csmd1 A T 8: 16,073,905 (GRCm39) I2030N possibly damaging Het
Csmd1 A G 8: 16,760,522 (GRCm39) probably null Het
Dhodh T C 8: 110,328,170 (GRCm39) probably null Het
Dnah11 T A 12: 117,982,495 (GRCm39) Y2558F probably benign Het
Dysf C A 6: 84,074,697 (GRCm39) D499E probably damaging Het
En1 A T 1: 120,534,872 (GRCm39) Y387F unknown Het
Ephb2 C A 4: 136,423,363 (GRCm39) C305F probably damaging Het
Fryl A G 5: 73,238,315 (GRCm39) V1477A probably benign Het
Gimap3 A T 6: 48,742,327 (GRCm39) L201Q probably benign Het
Gm10801 T G 2: 98,494,246 (GRCm39) probably null Het
Grhl1 A G 12: 24,636,132 (GRCm39) I283V possibly damaging Het
Grid2ip T A 5: 143,374,658 (GRCm39) L926H probably damaging Het
Gtf2h2 G T 13: 100,605,523 (GRCm39) C82* probably null Het
Gtf2ird1 T C 5: 134,433,588 (GRCm39) T280A probably benign Het
Gzmd T C 14: 56,367,698 (GRCm39) I192V probably null Het
Hectd1 A G 12: 51,834,695 (GRCm39) V855A possibly damaging Het
Hey1 A G 3: 8,730,963 (GRCm39) probably benign Het
Hpx A G 7: 105,249,243 (GRCm39) S19P probably benign Het
Incenp G A 19: 9,853,964 (GRCm39) R696W unknown Het
Itgam T C 7: 127,700,709 (GRCm39) V493A probably damaging Het
Ldlrad3 A G 2: 101,900,343 (GRCm39) I53T probably damaging Het
Map3k7 G T 4: 31,985,700 (GRCm39) E208* probably null Het
Myh9 A T 15: 77,671,717 (GRCm39) I458N probably damaging Het
Myo1c C T 11: 75,560,856 (GRCm39) R770* probably null Het
Nectin3 T A 16: 46,284,306 (GRCm39) Y126F possibly damaging Het
Nek5 A T 8: 22,573,443 (GRCm39) N504K probably damaging Het
Nlrp4c T A 7: 6,068,424 (GRCm39) H108Q probably benign Het
Or10d5 A T 9: 39,861,165 (GRCm39) L301M probably damaging Het
Or2ak4 T C 11: 58,649,013 (GRCm39) V174A possibly damaging Het
Or2at1 A T 7: 99,416,989 (GRCm39) I207F probably damaging Het
Or5h17 A T 16: 58,820,458 (GRCm39) T137S probably benign Het
Or9a2 G T 6: 41,748,442 (GRCm39) Q264K probably benign Het
Or9i14 T A 19: 13,792,814 (GRCm39) I47F possibly damaging Het
Parp6 T C 9: 59,549,052 (GRCm39) I507T probably damaging Het
Pcdhb12 A G 18: 37,570,548 (GRCm39) T565A probably benign Het
Pclo A G 5: 14,828,572 (GRCm39) N4676D unknown Het
Pdlim1 T A 19: 40,211,180 (GRCm39) H278L probably benign Het
Pfkfb3 G A 2: 11,498,719 (GRCm39) T46M probably damaging Het
Plscr2 A G 9: 92,173,067 (GRCm39) Y203C probably damaging Het
Plxna1 T C 6: 89,311,733 (GRCm39) D924G possibly damaging Het
Postn T A 3: 54,292,031 (GRCm39) probably benign Het
Ptpn23 A G 9: 110,217,924 (GRCm39) S674P possibly damaging Het
Ranbp6 C T 19: 29,788,984 (GRCm39) R456Q probably benign Het
Rbm43 A T 2: 51,819,728 (GRCm39) V46E probably damaging Het
Rlig1 T C 10: 100,414,243 (GRCm39) I139V probably benign Het
Rtn4r A G 16: 17,969,046 (GRCm39) Y158C probably damaging Het
Ryr2 A G 13: 11,731,884 (GRCm39) I2352T probably damaging Het
Sbk2 G T 7: 4,960,577 (GRCm39) R198S possibly damaging Het
Scube3 G A 17: 28,386,166 (GRCm39) probably null Het
Slc45a1 G A 4: 150,722,697 (GRCm39) P396S probably benign Het
Slc4a10 A G 2: 62,087,861 (GRCm39) D418G probably null Het
Smarcad1 A G 6: 65,052,099 (GRCm39) T411A probably benign Het
Smtn G A 11: 3,474,663 (GRCm39) S716F probably damaging Het
Stag1 G T 9: 100,620,092 (GRCm39) R65L probably damaging Het
Stat1 A T 1: 52,165,680 (GRCm39) D92V probably damaging Het
Ttn A G 2: 76,582,428 (GRCm39) Y22822H probably damaging Het
Vmn1r172 A G 7: 23,359,606 (GRCm39) T164A probably benign Het
Vmn2r118 A T 17: 55,917,860 (GRCm39) D217E probably damaging Het
Vmn2r26 A G 6: 124,030,924 (GRCm39) E553G probably damaging Het
Vmn2r96 T C 17: 18,803,088 (GRCm39) F333L probably benign Het
Ypel5 G A 17: 73,155,726 (GRCm39) R98H probably benign Het
Zfp719 C T 7: 43,239,656 (GRCm39) H415Y probably damaging Het
Zyg11a T C 4: 108,062,268 (GRCm39) S176G probably benign 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
R4940:Arhgdia UTSW 11 120,470,061 (GRCm39) missense probably damaging 1.00
R8504:Arhgdia UTSW 11 120,470,354 (GRCm39) missense probably benign 0.34
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'- CAATGGCTCCCCACTCTATG -3'
(R):5'- TCTGGAACTGGACCTGACAG -3'

Sequencing Primer
(F):5'- CACTCTATGGCCCGCCC -3'
(R):5'- ATGCCCTCTGGTGGAGAAG -3'
Posted On 2015-10-21