Incidental Mutation 'R6616:Rnd3'
ID 524020
Institutional Source Beutler Lab
Gene Symbol Rnd3
Ensembl Gene ENSMUSG00000017144
Gene Name Rho family GTPase 3
Synonyms 2610017M01Rik, Arhe, Rhoe
MMRRC Submission 044739-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.253) question?
Stock # R6616 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 51020451-51039123 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 51024169 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 137 (S137P)
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: S137P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000017288
Gene: ENSMUSG00000017144
AA Change: S137P

DomainStartEndE-ValueType
RHO 26 200 2.27e-109 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140864
Predicted Effect probably damaging
Transcript: ENSMUST00000154545
AA Change: S137P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000128831
Gene: ENSMUSG00000017144
AA Change: S137P

DomainStartEndE-ValueType
RHO 26 170 1.36e-71 SMART
transmembrane domain 179 201 N/A INTRINSIC
Meta Mutation Damage Score 0.3598 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.8%
Validation Efficiency 100% (51/51)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 A T 17: 24,603,509 (GRCm39) H567L probably damaging Het
Adck1 T A 12: 88,427,958 (GRCm39) M525K unknown Het
Alpi T C 1: 87,028,836 (GRCm39) I74V possibly damaging Het
Ccdc168 C A 1: 44,100,634 (GRCm39) V155L possibly damaging Het
Creb5 A C 6: 53,662,295 (GRCm39) Q197H possibly damaging Het
Cyp2b13 A G 7: 25,785,306 (GRCm39) K225R probably benign Het
Dock1 G A 7: 134,710,221 (GRCm39) E1143K possibly damaging Het
Eef2kmt T A 16: 5,065,346 (GRCm39) D287V probably damaging Het
Eif2ak4 T A 2: 118,285,326 (GRCm39) Y1046* probably null Het
Fbxw10 T A 11: 62,743,850 (GRCm39) M252K probably benign Het
Fnip2 A C 3: 79,388,189 (GRCm39) H847Q probably benign Het
Frmd3 A T 4: 74,105,725 (GRCm39) D457V probably damaging Het
Gm13941 T G 2: 110,931,520 (GRCm39) E37D unknown Het
Grin1 T A 2: 25,182,122 (GRCm39) I870F possibly damaging Het
Grin2b A C 6: 135,709,549 (GRCm39) D1332E probably benign Het
Gtpbp4 G A 13: 9,039,141 (GRCm39) T201I possibly damaging Het
Heatr4 A G 12: 84,026,904 (GRCm39) C118R probably benign Het
Hltf T A 3: 20,163,651 (GRCm39) probably null Het
Hmcn1 C T 1: 150,599,008 (GRCm39) probably null Het
Hpd A T 5: 123,310,123 (GRCm39) L367Q probably damaging Het
Htr1b A G 9: 81,514,487 (GRCm39) I40T probably benign Het
Il16 A G 7: 83,295,684 (GRCm39) S464P probably benign Het
Lrp1b T A 2: 40,589,643 (GRCm39) D75V unknown Het
Map3k4 A T 17: 12,490,231 (GRCm39) L400Q probably damaging Het
Mcts2 T A 2: 152,529,582 (GRCm39) I131N possibly damaging Het
Mroh2b A C 15: 4,982,764 (GRCm39) I1528L probably benign Het
Muc4 A C 16: 32,602,378 (GRCm39) D3467A possibly damaging Het
Mypn A T 10: 63,005,091 (GRCm39) C339S probably damaging Het
Ncoa5 A T 2: 164,852,483 (GRCm39) Y130* probably null Het
Or11g27 T A 14: 50,771,364 (GRCm39) I165N probably benign Het
Or2y11 T A 11: 49,442,868 (GRCm39) V98E probably damaging Het
Pcdha4 A G 18: 37,086,953 (GRCm39) T379A probably benign Het
Pkp4 C G 2: 59,180,896 (GRCm39) Y720* probably null Het
Prl5a1 C T 13: 28,333,839 (GRCm39) T114I probably benign Het
Rtel1 G A 2: 180,994,579 (GRCm39) E680K possibly damaging Het
Sbsn T A 7: 30,452,704 (GRCm39) V573D possibly damaging Het
Scaf8 A T 17: 3,218,330 (GRCm39) L233F unknown Het
Sec23a A T 12: 59,043,941 (GRCm39) I241K possibly damaging Het
Secisbp2l A T 2: 125,610,146 (GRCm39) S258T probably damaging Het
Skint4 A G 4: 111,975,427 (GRCm39) H121R possibly damaging Het
Sptbn1 T A 11: 30,074,030 (GRCm39) E1346D probably benign Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Het
Stpg4 A G 17: 87,730,124 (GRCm39) Y74H probably damaging Het
Tenm4 G A 7: 96,202,703 (GRCm39) R106H probably benign Het
Tmc4 A G 7: 3,674,057 (GRCm39) V374A possibly damaging Het
Unc45b G A 11: 82,802,645 (GRCm39) R47Q probably damaging Het
Xirp1 A G 9: 119,848,080 (GRCm39) S268P probably damaging Het
Zfp990 A T 4: 145,263,715 (GRCm39) I238L probably benign Het
Zswim5 A G 4: 116,843,938 (GRCm39) D992G possibly damaging 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
R4059:Rnd3 UTSW 2 51,038,760 (GRCm39) missense probably damaging 0.99
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
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'- AAAAGCGCTGCGTCTCATTTATC -3'
(R):5'- TGGCTTCTTCACTTAAAGTTGC -3'

Sequencing Primer
(F):5'- GTCTCTAATTCTAGATCCAGGGGAC -3'
(R):5'- GCACTTCAAAGTCTGTCAGGG -3'
Posted On 2018-06-22