Incidental Mutation 'IGL02161:Rnd3'
ID 282498
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnd3
Ensembl Gene ENSMUSG00000017144
Gene Name Rho family GTPase 3
Synonyms 2610017M01Rik, Arhe, Rhoe
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.253) question?
Stock # IGL02161
Quality Score
Status
Chromosome 2
Chromosomal Location 51020451-51039123 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 51024088 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 164 (V164M)
Ref Sequence ENSEMBL: ENSMUSP00000128831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017288] [ENSMUST00000154545]
AlphaFold P61588
Predicted Effect probably benign
Transcript: ENSMUST00000017288
SMART Domains Protein: ENSMUSP00000017288
Gene: ENSMUSG00000017144

DomainStartEndE-ValueType
RHO 26 200 2.27e-109 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140864
Predicted Effect probably benign
Transcript: ENSMUST00000154545
AA Change: V164M

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000128831
Gene: ENSMUSG00000017144
AA Change: V164M

DomainStartEndE-ValueType
RHO 26 170 1.36e-71 SMART
transmembrane domain 179 201 N/A INTRINSIC
Coding Region Coverage
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 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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A T 12: 118,838,490 (GRCm39) V1024D probably benign Het
Alox5 T A 6: 116,400,154 (GRCm39) M262L probably benign Het
Arid5b T C 10: 67,932,498 (GRCm39) T1135A probably benign Het
Ascc3 T A 10: 50,726,623 (GRCm39) Y2177* probably null Het
Birc6 A C 17: 74,855,832 (GRCm39) H214P probably damaging Het
Catsperb T A 12: 101,375,674 (GRCm39) probably benign Het
Ccr1l1 G A 9: 123,778,000 (GRCm39) T149I possibly damaging Het
Cfap57 T G 4: 118,436,569 (GRCm39) R942S possibly damaging Het
Crocc G A 4: 140,761,302 (GRCm39) A941V probably benign Het
Csde1 A G 3: 102,957,654 (GRCm39) Q471R probably damaging Het
Csmd1 C T 8: 16,408,426 (GRCm39) V380I probably damaging Het
Dhx8 A T 11: 101,648,432 (GRCm39) Q857L probably damaging Het
Eftud2 A G 11: 102,745,702 (GRCm39) probably benign Het
Fat3 C A 9: 15,908,346 (GRCm39) R2552I probably benign Het
Fat3 T A 9: 15,908,347 (GRCm39) R2552* probably null Het
Fbln7 A T 2: 128,731,711 (GRCm39) K166I probably benign Het
Glrx2 C T 1: 143,615,421 (GRCm39) S8L possibly damaging Het
Grin2d T G 7: 45,503,846 (GRCm39) I630L possibly damaging Het
Gsap T A 5: 21,458,377 (GRCm39) W423R probably damaging Het
Kifc2 A G 15: 76,550,245 (GRCm39) E468G probably damaging Het
Kpnb1 A G 11: 97,059,762 (GRCm39) S566P probably benign Het
Lemd2 A G 17: 27,409,625 (GRCm39) S509P probably damaging Het
Lepr T C 4: 101,602,875 (GRCm39) F221S probably damaging Het
Nynrin T C 14: 56,101,441 (GRCm39) F370S probably damaging Het
Or51a10 C A 7: 103,698,797 (GRCm39) V255L possibly damaging Het
Pcdhb15 T A 18: 37,608,555 (GRCm39) S596T possibly damaging Het
Prkcq G T 2: 11,281,887 (GRCm39) S472I probably benign Het
Rabgef1 T C 5: 130,235,940 (GRCm39) probably benign Het
Rtn4rl1 G A 11: 75,156,666 (GRCm39) R366Q probably damaging Het
Sesn2 A T 4: 132,224,229 (GRCm39) I393N probably damaging Het
St8sia2 T C 7: 73,626,430 (GRCm39) N46S probably benign Het
Svopl A G 6: 38,013,750 (GRCm39) probably benign Het
Tbr1 C T 2: 61,635,583 (GRCm39) Q178* probably null Het
Vax2 T C 6: 83,714,885 (GRCm39) S267P probably damaging Het
Vmn1r47 T A 6: 89,999,298 (GRCm39) Y143* probably null Het
Vmn2r28 A G 7: 5,491,123 (GRCm39) S375P possibly damaging Het
Vmn2r44 A T 7: 8,380,814 (GRCm39) Y360N possibly damaging Het
Zc3h6 G A 2: 128,835,146 (GRCm39) S94N possibly damaging Het
Other mutations in Rnd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2015-04-16