Incidental Mutation 'R5534:Rnd2'
ID 434731
Institutional Source Beutler Lab
Gene Symbol Rnd2
Ensembl Gene ENSMUSG00000001313
Gene Name Rho family GTPase 2
Synonyms Rohn, Arhn
MMRRC Submission 043092-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5534 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 101359001-101362679 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 101359825 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 57 (L57F)
Ref Sequence ENSEMBL: ENSMUSP00000001347 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001347] [ENSMUST00000040430]
AlphaFold Q9QYM5
Predicted Effect probably damaging
Transcript: ENSMUST00000001347
AA Change: L57F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001347
Gene: ENSMUSG00000001313
AA Change: L57F

DomainStartEndE-ValueType
RHO 10 184 5.22e-100 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000040430
SMART Domains Protein: ENSMUSP00000048350
Gene: ENSMUSG00000034993

DomainStartEndE-ValueType
low complexity region 3 31 N/A INTRINSIC
low complexity region 41 60 N/A INTRINSIC
Pfam:ADH_N 89 157 8.8e-11 PFAM
Pfam:ADH_zinc_N 213 355 2.1e-21 PFAM
Pfam:ADH_zinc_N_2 245 398 6.9e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134980
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153185
Meta Mutation Damage Score 0.1630 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 94.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Rho GTPase family, whose members play a key role in the regulation of actin cytoskeleton organization in response to extracellular growth factors. This particular family member has been implicated in the regulation of neuronal morphology and endosomal trafficking. The gene localizes to chromosome 17 and is the centromeric neighbor of the breast-ovarian cancer susceptibility gene BRCA1. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 T A 8: 25,155,530 (GRCm39) D163V probably benign Het
Ank2 A T 3: 126,740,947 (GRCm39) probably benign Het
Ankmy1 T C 1: 92,814,442 (GRCm39) E355G probably damaging Het
Ankmy2 A G 12: 36,232,491 (GRCm39) N172S probably damaging Het
Ankrd50 A G 3: 38,510,231 (GRCm39) M712T probably damaging Het
Apcdd1 T C 18: 63,070,105 (GRCm39) I124T probably benign Het
Carmil3 A G 14: 55,732,347 (GRCm39) K256R probably damaging Het
Cass4 G T 2: 172,268,688 (GRCm39) V259L probably benign Het
Ccdc141 A G 2: 76,888,241 (GRCm39) V508A probably benign Het
Ccdc33 A G 9: 58,024,450 (GRCm39) S226P possibly damaging Het
Cep72 T C 13: 74,210,335 (GRCm39) E9G probably benign Het
Clca4b A T 3: 144,621,227 (GRCm39) Y616N probably damaging Het
Cnot4 A G 6: 35,054,939 (GRCm39) S117P possibly damaging Het
Col11a2 C T 17: 34,269,998 (GRCm39) A429V probably damaging Het
Col4a4 T C 1: 82,465,238 (GRCm39) E979G unknown Het
Coq10b T C 1: 55,103,359 (GRCm39) Y46H possibly damaging Het
Cplane1 C A 15: 8,258,319 (GRCm39) F2188L probably benign Het
Dnah17 T C 11: 117,943,596 (GRCm39) T3169A possibly damaging Het
Dock6 G A 9: 21,714,372 (GRCm39) R1824* probably null Het
Dsp A C 13: 38,379,818 (GRCm39) I1589L probably benign Het
Edil3 A G 13: 89,347,593 (GRCm39) T383A probably benign Het
Efemp1 T C 11: 28,817,758 (GRCm39) V79A probably damaging Het
Esyt1 C T 10: 128,355,329 (GRCm39) V471I probably benign Het
Fbxo30 T C 10: 11,165,409 (GRCm39) S44P possibly damaging Het
Fdx2 G T 9: 20,984,562 (GRCm39) D57E probably benign Het
Gbp11 A T 5: 105,478,904 (GRCm39) V178D probably damaging Het
Gna11 A T 10: 81,366,967 (GRCm39) I283N probably damaging Het
Grid2 A T 6: 63,480,345 (GRCm39) Q53L probably benign Het
Jmjd6 A G 11: 116,731,252 (GRCm39) S266P probably damaging Het
Kirrel1 G A 3: 86,997,825 (GRCm39) R233C probably damaging Het
Kmt2d A G 15: 98,735,238 (GRCm39) probably benign Het
Lama3 A T 18: 12,686,267 (GRCm39) T1171S probably benign Het
Ltbr G A 6: 125,289,757 (GRCm39) R146W probably damaging Het
Med13 A T 11: 86,210,191 (GRCm39) S650R probably benign Het
Meltf T A 16: 31,709,632 (GRCm39) probably null Het
Mgat1 T C 11: 49,151,976 (GRCm39) V153A probably benign Het
Mmp16 A T 4: 18,110,452 (GRCm39) D416V probably damaging Het
Myh3 A T 11: 66,987,870 (GRCm39) R1448W probably damaging Het
Nedd1 A T 10: 92,530,894 (GRCm39) F398L probably benign Het
Or2a14 A G 6: 43,130,567 (GRCm39) I109M probably benign Het
Or4k45 T C 2: 111,395,349 (GRCm39) T147A probably benign Het
Or5ac17 T C 16: 59,036,403 (GRCm39) D191G probably benign Het
Or5g9 T C 2: 85,552,331 (GRCm39) I194T probably benign Het
Otud3 A G 4: 138,624,894 (GRCm39) L269P probably damaging Het
Otx1 A G 11: 21,946,296 (GRCm39) probably benign Het
Pcdhga7 A C 18: 37,849,331 (GRCm39) D446A probably damaging Het
Pcnx2 T G 8: 126,564,754 (GRCm39) K1046N possibly damaging Het
Pfkp C A 13: 6,698,619 (GRCm39) G33W probably damaging Het
Poglut2 C T 1: 44,151,837 (GRCm39) V351M probably damaging Het
Pold1 A G 7: 44,188,043 (GRCm39) I585T probably damaging Het
Pole4 A G 6: 82,629,115 (GRCm39) Y84H possibly damaging Het
Pramel26 G T 4: 143,539,169 (GRCm39) S108* probably null Het
Ptpn23 A G 9: 110,221,809 (GRCm39) S126P possibly damaging Het
R3hdm4 C T 10: 79,748,292 (GRCm39) E162K possibly damaging Het
Rin3 T C 12: 102,353,891 (GRCm39) L766P probably damaging Het
Rras2 G A 7: 113,649,650 (GRCm39) T138I possibly damaging Het
Scrn2 A G 11: 96,921,751 (GRCm39) I74V probably benign Het
Sema6d T C 2: 124,501,735 (GRCm39) I526T possibly damaging Het
Shd G T 17: 56,278,577 (GRCm39) E47* probably null Het
Slc22a27 T C 19: 7,903,996 (GRCm39) H47R probably damaging Het
Slc36a3 C G 11: 55,033,595 (GRCm39) W141S possibly damaging Het
Slc9c1 T A 16: 45,376,977 (GRCm39) V429E probably benign Het
Smg8 A T 11: 86,976,296 (GRCm39) D428E probably benign Het
Snrpe A T 1: 133,534,211 (GRCm39) F84Y probably benign Het
Tbc1d2b C T 9: 90,109,559 (GRCm39) D306N possibly damaging Het
Trav9n-4 A G 14: 53,532,356 (GRCm39) Y70C probably damaging Het
Tut7 A G 13: 59,936,367 (GRCm39) F843L probably damaging Het
Ush1c A G 7: 45,870,847 (GRCm39) I330T probably damaging Het
Wnt11 T C 7: 98,488,349 (GRCm39) L12P probably damaging Het
Zan A G 5: 137,436,713 (GRCm39) S2047P unknown Het
Zfp763 A C 17: 33,240,768 (GRCm39) S20R probably damaging Het
Other mutations in Rnd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00596:Rnd2 APN 11 101,362,017 (GRCm39) missense possibly damaging 0.81
IGL01964:Rnd2 APN 11 101,361,632 (GRCm39) splice site probably null
Atkins UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R1581:Rnd2 UTSW 11 101,362,022 (GRCm39) missense probably benign
R4606:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R4797:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R4824:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R4825:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R4931:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R5005:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R5078:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R5079:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R5402:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R5405:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R5497:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R5498:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R5501:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R5619:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R5666:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R5669:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R5670:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R5671:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R5786:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R5788:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R5844:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R5845:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R5857:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R5989:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R5991:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R5992:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R6018:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R6019:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R6020:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R6122:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R6144:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R6148:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R6208:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R6209:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R6226:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R6230:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R6332:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R6333:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R6335:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R6491:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R6541:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R6605:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R6606:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R6607:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R6677:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R6678:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R6726:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R6796:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R6797:Rnd2 UTSW 11 101,359,825 (GRCm39) missense probably damaging 1.00
R8415:Rnd2 UTSW 11 101,362,011 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CAGCCTCAGACCAACTTCTG -3'
(R):5'- CCTACGTGGTTTCTGTCAGG -3'

Sequencing Primer
(F):5'- ACCAACTTCTGTCTAGGGACTGAG -3'
(R):5'- GGTTTCTGTCAGGCCTAAGAAACTC -3'
Posted On 2016-10-24