Incidental Mutation 'R4059:Rnd3'
ID 314365
Institutional Source Beutler Lab
Gene Symbol Rnd3
Ensembl Gene ENSMUSG00000017144
Gene Name Rho family GTPase 3
Synonyms 2610017M01Rik, Arhe, Rhoe
MMRRC Submission 040970-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.339) question?
Stock # R4059 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 51020451-51039123 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 51038760 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 43 (F43L)
Ref Sequence ENSEMBL: ENSMUSP00000017288 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017288] [ENSMUST00000154545]
AlphaFold P61588
PDB Structure THE CRYSTAL STRUCTURE OF THE CORE DOMAIN OF RHOE/RND3 - A CONSTITUTIVELY ACTIVATED SMALL G PROTEIN [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000017288
AA Change: F43L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000017288
Gene: ENSMUSG00000017144
AA Change: F43L

DomainStartEndE-ValueType
RHO 26 200 2.27e-109 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140864
Predicted Effect probably benign
Transcript: ENSMUST00000154545
AA Change: F43L

PolyPhen 2 Score 0.341 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000128831
Gene: ENSMUSG00000017144
AA Change: F43L

DomainStartEndE-ValueType
RHO 26 170 1.36e-71 SMART
transmembrane domain 179 201 N/A INTRINSIC
Meta Mutation Damage Score 0.6378 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 98% (54/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is a member of the small GTPase protein superfamily. The encoded protein binds only GTP but has no GTPase activity, and appears to act as a negative regulator of cytoskeletal organization leading to loss of adhesion. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a mutation in this gene display premature death with postnatal growth retardation and wasting, delayed development, absence of the common peroneal nerve and impaired motor capabilities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930453N24Rik A G 16: 64,586,821 (GRCm39) V301A probably benign Het
Agbl3 T C 6: 34,823,834 (GRCm39) L833P probably damaging Het
Amph T C 13: 19,326,168 (GRCm39) S633P probably damaging Het
Aspscr1 T C 11: 120,577,505 (GRCm39) V60A probably benign Het
Atp13a3 C A 16: 30,173,064 (GRCm39) C271F possibly damaging Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
BC051019 C T 7: 109,317,202 (GRCm39) W163* probably null Het
Capza1 T C 3: 104,732,427 (GRCm39) E245G probably damaging Het
Cd81 G T 7: 142,619,030 (GRCm39) C18F probably damaging Het
Cfap45 G T 1: 172,366,056 (GRCm39) R303L probably benign Het
Commd9 T C 2: 101,725,499 (GRCm39) V24A possibly damaging Het
Dennd4a A G 9: 64,819,174 (GRCm39) N1742D possibly damaging Het
Dgat1 G T 15: 76,388,371 (GRCm39) A182D possibly damaging Het
Dlg4 T C 11: 69,917,909 (GRCm39) L64P probably benign Het
Dna2 A G 10: 62,792,768 (GRCm39) D261G probably damaging Het
Epb41l4b C T 4: 57,024,337 (GRCm39) probably null Het
Fam13c T C 10: 70,390,338 (GRCm39) L533P probably damaging Het
Fjx1 T C 2: 102,281,066 (GRCm39) T290A possibly damaging Het
Hid1 C T 11: 115,247,565 (GRCm39) E278K probably damaging Het
Hsd3b7 T C 7: 127,400,717 (GRCm39) I57T probably damaging Het
Igfn1 A G 1: 135,897,494 (GRCm39) V1024A probably benign Het
Itgae A G 11: 73,002,960 (GRCm39) K175E probably benign Het
Klhl32 T C 4: 24,792,781 (GRCm39) T14A probably damaging Het
Krt23 T C 11: 99,376,614 (GRCm39) T181A probably benign Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Lrrc36 A G 8: 106,154,428 (GRCm39) E33G probably damaging Het
Mettl13 G T 1: 162,373,755 (GRCm39) H165Q probably damaging Het
Mocos G A 18: 24,812,447 (GRCm39) G447D probably damaging Het
Ngef T A 1: 87,413,953 (GRCm39) K399N probably damaging Het
Ntrk1 A G 3: 87,688,786 (GRCm39) L589P probably damaging Het
Or4c104 C T 2: 88,586,795 (GRCm39) V75I probably benign Het
Pcdha2 A G 18: 37,072,935 (GRCm39) S189G probably benign Het
Peg10 T G 6: 4,756,427 (GRCm39) probably benign Het
Pkhd1l1 C T 15: 44,414,156 (GRCm39) H2808Y probably benign Het
Plekhg1 A G 10: 3,907,087 (GRCm39) D668G probably damaging Het
Ptcd2 A G 13: 99,481,084 (GRCm39) C32R probably damaging Het
Rgs8 A G 1: 153,566,742 (GRCm39) T98A probably null Het
Rhoh G A 5: 66,049,931 (GRCm39) S67N probably benign Het
Runx1 A G 16: 92,441,134 (GRCm39) V225A probably benign Het
Runx1t1 T C 4: 13,889,769 (GRCm39) V566A probably benign Het
Sall2 A G 14: 52,552,028 (GRCm39) I387T probably damaging Het
Sec14l1 T A 11: 117,040,024 (GRCm39) V384D possibly damaging Het
Sh3rf3 T C 10: 58,919,355 (GRCm39) C491R probably damaging Het
Slc22a27 T A 19: 7,856,973 (GRCm39) probably benign Het
Spire1 A G 18: 67,678,783 (GRCm39) S53P probably damaging Het
Tmco3 A G 8: 13,370,848 (GRCm39) R671G probably benign Het
Tmpo A G 10: 90,998,123 (GRCm39) S555P probably benign Het
Tnip1 A G 11: 54,802,395 (GRCm39) S638P probably benign Het
Tspan8 C T 10: 115,671,187 (GRCm39) R115* probably null Het
Txnrd1 A G 10: 82,721,114 (GRCm39) E510G probably benign Het
Ucp3 T C 7: 100,131,871 (GRCm39) Y241H probably damaging Het
Vmn2r96 A G 17: 18,818,339 (GRCm39) I831V probably benign Het
Zan T C 5: 137,435,082 (GRCm39) I2104V unknown Het
Zfp619 A C 7: 39,184,823 (GRCm39) R284S probably benign Het
Zfp715 T C 7: 42,951,155 (GRCm39) M48V probably benign Het
Other mutations in Rnd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02161:Rnd3 APN 2 51,024,088 (GRCm39) missense probably benign 0.13
R0387:Rnd3 UTSW 2 51,038,243 (GRCm39) missense probably damaging 1.00
R1440:Rnd3 UTSW 2 51,022,518 (GRCm39) missense probably benign
R4112:Rnd3 UTSW 2 51,038,242 (GRCm39) missense possibly damaging 0.94
R4673:Rnd3 UTSW 2 51,022,553 (GRCm39) missense probably benign 0.00
R4877:Rnd3 UTSW 2 51,038,762 (GRCm39) missense probably damaging 0.99
R5966:Rnd3 UTSW 2 51,022,536 (GRCm39) missense probably damaging 0.99
R6616:Rnd3 UTSW 2 51,024,169 (GRCm39) missense probably damaging 1.00
R6928:Rnd3 UTSW 2 51,022,518 (GRCm39) missense probably benign
R6929:Rnd3 UTSW 2 51,027,187 (GRCm39) missense probably damaging 0.99
R9127:Rnd3 UTSW 2 51,022,413 (GRCm39) missense probably benign
R9336:Rnd3 UTSW 2 51,038,844 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AAGACCCTTCCAGGACACTTTC -3'
(R):5'- TGTGCTTAAAGGGGTTCCC -3'

Sequencing Primer
(F):5'- AGGACACTTTCGCTTCCCGG -3'
(R):5'- CGGCCTTGCGATTTATTTTTATATC -3'
Posted On 2015-04-30