Incidental Mutation 'R6208:Rnd2'
ID 503277
Institutional Source Beutler Lab
Gene Symbol Rnd2
Ensembl Gene ENSMUSG00000001313
Gene Name Rho family GTPase 2
Synonyms Rohn, Arhn
MMRRC Submission 044342-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6208 (G1)
Quality Score 225.009
Status 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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (57/58)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6a A T 3: 32,766,043 (GRCm39) I18F probably benign Het
Apol11a C T 15: 77,401,241 (GRCm39) R243C probably damaging Het
Asap3 A G 4: 135,968,508 (GRCm39) M687V probably benign Het
Axdnd1 C T 1: 156,220,426 (GRCm39) probably benign Het
Baz2b A G 2: 59,755,150 (GRCm39) F1026S probably damaging Het
Bsg T C 10: 79,544,672 (GRCm39) L70P probably damaging Het
Col10a1 A G 10: 34,270,582 (GRCm39) N185D possibly damaging Het
Col6a2 T A 10: 76,450,891 (GRCm39) N50I possibly damaging Het
Cux2 G A 5: 121,998,885 (GRCm39) P1352S possibly damaging Het
Defa25 A G 8: 21,575,197 (GRCm39) probably null Het
Emc1 G T 4: 139,081,582 (GRCm39) R70L probably damaging Het
Fat1 T C 8: 45,480,650 (GRCm39) F3028S probably damaging Het
Fhit T C 14: 9,573,435 (GRCm38) E205G probably benign Het
Gaa C A 11: 119,171,997 (GRCm39) A700D probably benign Het
Gm20830 T G Y: 6,916,792 (GRCm39) E109A probably benign Homo
Grm1 A T 10: 10,595,690 (GRCm39) F646Y probably damaging Het
Hp1bp3 A G 4: 137,944,481 (GRCm39) probably benign Het
Lce1d G A 3: 92,593,312 (GRCm39) P34S unknown Het
Lpar1 G A 4: 58,504,630 (GRCm39) Q13* probably null Het
Lrrc61 C T 6: 48,545,839 (GRCm39) R221* probably null Het
Map2 A G 1: 66,470,749 (GRCm39) N328D probably damaging Het
Mndal T A 1: 173,684,988 (GRCm39) D527V possibly damaging Het
Mycbp2 T G 14: 103,532,664 (GRCm39) N430T probably benign Het
Myo1e A G 9: 70,283,887 (GRCm39) Y861C probably damaging Het
Nav2 A G 7: 49,213,851 (GRCm39) T1622A probably damaging Het
Nom1 A T 5: 29,654,617 (GRCm39) H773L possibly damaging Het
Npc2 G T 12: 84,803,919 (GRCm39) P144Q probably damaging Het
Npnt A G 3: 132,655,774 (GRCm39) probably benign Het
Nxpe4 A T 9: 48,304,678 (GRCm39) Y255F probably benign Het
Obscn G A 11: 58,958,474 (GRCm39) A3769V possibly damaging Het
Optc T C 1: 133,832,737 (GRCm39) D121G probably damaging Het
Pard6a T C 8: 106,428,866 (GRCm39) F26L probably damaging Het
Pcdhga4 T A 18: 37,819,762 (GRCm39) I437N probably damaging Het
Phf12 G T 11: 77,914,417 (GRCm39) V71F probably damaging Het
Phf21b T A 15: 84,679,317 (GRCm39) S282C probably damaging Het
Pou5f1 T C 17: 35,821,357 (GRCm39) F323S possibly damaging Het
Psmd5 A T 2: 34,757,023 (GRCm39) I67N probably damaging Het
Pyroxd1 A G 6: 142,303,182 (GRCm39) K273R probably benign Het
Rpusd1 A T 17: 25,949,352 (GRCm39) H174L probably damaging Het
Ryr2 T C 13: 11,910,106 (GRCm39) K94R probably benign Het
Scn2b A G 9: 45,029,328 (GRCm39) R3G probably benign Het
Sf3b2 A T 19: 5,325,126 (GRCm39) M782K possibly damaging Het
Skint7 A G 4: 111,842,073 (GRCm39) probably null Het
Slc43a1 A G 2: 84,687,184 (GRCm39) I319V possibly damaging Het
Snupn T A 9: 56,890,247 (GRCm39) M356K probably damaging Het
Spata31d1a C A 13: 59,848,378 (GRCm39) R1250M probably damaging Het
Sprr2h T C 3: 92,294,216 (GRCm39) V21A unknown Het
Srpra A G 9: 35,127,291 (GRCm39) T614A possibly damaging Het
Stk36 A T 1: 74,650,591 (GRCm39) Q327L probably benign Het
Syne3 A G 12: 104,909,622 (GRCm39) I738T probably benign Het
Tcea3 A T 4: 135,975,360 (GRCm39) M1L probably damaging Het
Tead2 G T 7: 44,867,526 (GRCm39) R85L probably damaging Het
Thap7 T C 16: 17,346,300 (GRCm39) N228D possibly damaging Het
Trip11 T A 12: 101,865,154 (GRCm39) E173V probably damaging Het
Ttc38 T A 15: 85,725,698 (GRCm39) M187K possibly damaging Het
Vmn1r193 T A 13: 22,403,138 (GRCm39) T285S possibly damaging Het
Vmn2r106 T C 17: 20,488,591 (GRCm39) T603A probably damaging Het
Vps39 A T 2: 120,163,897 (GRCm39) M355K probably damaging Het
Wnt5b G T 6: 119,423,473 (GRCm39) L51I probably damaging Het
Xxylt1 A G 16: 30,826,626 (GRCm39) Y230H probably benign 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
R5534: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
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'- CAGACCAACTTCTGTCTAGGG -3'
(R):5'- AGACTTCCTACGTGGTTTCTG -3'

Sequencing Primer
(F):5'- ACCAACTTCTGTCTAGGGACTGAG -3'
(R):5'- GGTTTCTGTCAGGCCTAAGAAACTC -3'
Posted On 2018-02-27