Incidental Mutation 'IGL02161:Rnd3'
ID282498
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnd3
Ensembl Gene ENSMUSG00000017144
Gene NameRho family GTPase 3
SynonymsArhe, Rhoe, 2610017M01Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.214) question?
Stock #IGL02161
Quality Score
Status
Chromosome2
Chromosomal Location51130438-51149111 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 51134076 bp
ZygosityHeterozygous
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]
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: 118,874,755 V1024D probably benign Het
Alox5 T A 6: 116,423,193 M262L probably benign Het
Arid5b T C 10: 68,096,668 T1135A probably benign Het
Ascc3 T A 10: 50,850,527 Y2177* probably null Het
Birc6 A C 17: 74,548,837 H214P probably damaging Het
Catsperb T A 12: 101,409,415 probably benign Het
Ccr1l1 G A 9: 123,977,963 T149I possibly damaging Het
Cfap57 T G 4: 118,579,372 R942S possibly damaging Het
Crocc G A 4: 141,033,991 A941V probably benign Het
Csde1 A G 3: 103,050,338 Q471R probably damaging Het
Csmd1 C T 8: 16,358,412 V380I probably damaging Het
Dhx8 A T 11: 101,757,606 Q857L probably damaging Het
Eftud2 A G 11: 102,854,876 probably benign Het
Fat3 C A 9: 15,997,050 R2552I probably benign Het
Fat3 T A 9: 15,997,051 R2552* probably null Het
Fbln7 A T 2: 128,889,791 K166I probably benign Het
Glrx2 C T 1: 143,739,683 S8L possibly damaging Het
Grin2d T G 7: 45,854,422 I630L possibly damaging Het
Gsap T A 5: 21,253,379 W423R probably damaging Het
Kifc2 A G 15: 76,666,045 E468G probably damaging Het
Kpnb1 A G 11: 97,168,936 S566P probably benign Het
Lemd2 A G 17: 27,190,651 S509P probably damaging Het
Lepr T C 4: 101,745,678 F221S probably damaging Het
Nynrin T C 14: 55,863,984 F370S probably damaging Het
Olfr642 C A 7: 104,049,590 V255L possibly damaging Het
Pcdhb15 T A 18: 37,475,502 S596T possibly damaging Het
Prkcq G T 2: 11,277,076 S472I probably benign Het
Rabgef1 T C 5: 130,207,099 probably benign Het
Rtn4rl1 G A 11: 75,265,840 R366Q probably damaging Het
Sesn2 A T 4: 132,496,918 I393N probably damaging Het
St8sia2 T C 7: 73,976,682 N46S probably benign Het
Svopl A G 6: 38,036,815 probably benign Het
Tbr1 C T 2: 61,805,239 Q178* probably null Het
Vax2 T C 6: 83,737,903 S267P probably damaging Het
Vmn1r47 T A 6: 90,022,316 Y143* probably null Het
Vmn2r28 A G 7: 5,488,124 S375P possibly damaging Het
Vmn2r44 A T 7: 8,377,815 Y360N possibly damaging Het
Zc3h6 G A 2: 128,993,226 S94N possibly damaging Het
Other mutations in Rnd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R6929:Rnd3 UTSW 2 51137175 missense probably damaging 0.99
Posted On2015-04-16