Incidental Mutation 'R6929:Rnd3'
ID539886
Institutional Source Beutler Lab
Gene Symbol Rnd3
Ensembl Gene ENSMUSG00000017144
Gene NameRho family GTPase 3
SynonymsArhe, Rhoe, 2610017M01Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.259) question?
Stock #R6929 (G1)
Quality Score225.009
Status Validated
Chromosome2
Chromosomal Location51130438-51149111 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 51137175 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 103 (D103E)
Ref Sequence ENSEMBL: ENSMUSP00000128831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017288] [ENSMUST00000154545]
Predicted Effect possibly damaging
Transcript: ENSMUST00000017288
AA Change: D103E

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000017288
Gene: ENSMUSG00000017144
AA Change: D103E

DomainStartEndE-ValueType
RHO 26 200 2.27e-109 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000154545
AA Change: D103E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000128831
Gene: ENSMUSG00000017144
AA Change: D103E

DomainStartEndE-ValueType
RHO 26 170 1.36e-71 SMART
transmembrane domain 179 201 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.4%
Validation Efficiency 92% (35/38)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 A T 2: 27,006,263 R1223* probably null Het
Adgrb3 A T 1: 25,111,771 L1127* probably null Het
Ankrd17 A T 5: 90,285,525 V727D possibly damaging Het
Ankub1 A T 3: 57,665,433 C289* probably null Het
C2 T A 17: 34,864,347 I242F possibly damaging Het
C2cd3 T C 7: 100,451,619 L653P probably damaging Het
Cacna1b A G 2: 24,632,010 V1696A probably damaging Het
Cep295 A G 9: 15,333,062 I1366T probably damaging Het
Chd9 T C 8: 91,042,945 L2553P probably damaging Het
Cited4 C A 4: 120,667,047 T82K probably benign Het
Dnah6 A T 6: 73,044,773 M3470K probably damaging Het
Exosc3 G T 4: 45,320,482 P37Q probably damaging Het
Fam120b C A 17: 15,423,028 Q690K possibly damaging Het
Fyb T C 15: 6,638,907 I527T probably damaging Het
Gm32742 A G 9: 51,154,279 L459P probably benign Het
Gm45861 A G 8: 27,524,434 D655G unknown Het
Ifi203 A G 1: 173,928,774 probably benign Het
Ifnar2 T A 16: 91,393,878 L93* probably null Het
Kdr A G 5: 75,978,104 V22A probably benign Het
Llgl1 C T 11: 60,710,353 Q706* probably null Het
Lrrc9 A T 12: 72,450,772 K121N probably benign Het
Lyst T C 13: 13,743,324 F3323S probably damaging Het
Mc4r A G 18: 66,859,182 Y287H probably damaging Het
Nlrp4e A C 7: 23,336,731 probably null Het
Olfr617 A T 7: 103,584,444 I141F probably damaging Het
Olfr901 A G 9: 38,431,148 I289V probably benign Het
Pear1 T A 3: 87,759,565 K38* probably null Het
Pik3c2g G A 6: 139,957,776 R585Q possibly damaging Het
Prpf40a A G 2: 53,144,863 V771A possibly damaging Het
Sfpq GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC GCCGCCGCAGCAGCC 4: 127,021,626 probably benign Het
Spats2l A T 1: 57,879,536 N43I probably damaging Het
Tmem202 C A 9: 59,519,221 G221C probably benign Het
Ubiad1 T C 4: 148,444,122 D110G probably damaging Het
Ulk4 A T 9: 121,074,015 V1132D probably benign Het
Vmn2r118 C T 17: 55,610,440 M357I probably benign Het
Zfp663 G C 2: 165,353,258 P347R probably benign Het
Other mutations in Rnd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02161:Rnd3 APN 2 51134076 missense probably benign 0.13
R0387:Rnd3 UTSW 2 51148231 missense probably damaging 1.00
R1440:Rnd3 UTSW 2 51132506 missense probably benign
R4059:Rnd3 UTSW 2 51148748 missense probably damaging 0.99
R4112:Rnd3 UTSW 2 51148230 missense possibly damaging 0.94
R4673:Rnd3 UTSW 2 51132541 missense probably benign 0.00
R4877:Rnd3 UTSW 2 51148750 missense probably damaging 0.99
R5966:Rnd3 UTSW 2 51132524 missense probably damaging 0.99
R6616:Rnd3 UTSW 2 51134157 missense probably damaging 1.00
R6928:Rnd3 UTSW 2 51132506 missense probably benign
Predicted Primers PCR Primer
(F):5'- GTGCCTTATAGCAAGCAACAATG -3'
(R):5'- GACCAATGGGATGTTGCATTTTAAC -3'

Sequencing Primer
(F):5'- AGCAACAATGTATATGGGAATGTTG -3'
(R):5'- TGGGATGTTGCATTTTAACAGGAAAG -3'
Posted On2018-11-06