Incidental Mutation 'R6332:Rnd2'
ID 513189
Institutional Source Beutler Lab
Gene Symbol Rnd2
Ensembl Gene ENSMUSG00000001313
Gene Name Rho family GTPase 2
Synonyms Rohn, Arhn
MMRRC Submission 044486-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6332 (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: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
Validation Efficiency 99% (67/68)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933421I07Rik C A 7: 42,095,667 (GRCm39) G194C possibly damaging Het
Adamtsl1 A G 4: 86,135,248 (GRCm39) K258E probably damaging Het
Afdn A T 17: 14,030,707 (GRCm39) D206V possibly damaging Het
Agt G T 8: 125,284,572 (GRCm39) Q389K possibly damaging Het
Ankrd44 A T 1: 54,801,432 (GRCm39) D298E probably damaging Het
Anks1 A G 17: 28,271,709 (GRCm39) S897G probably benign Het
Apol9b A G 15: 77,619,746 (GRCm39) probably null Het
Baz1a T C 12: 54,965,339 (GRCm39) E705G probably benign Het
BC048679 C T 7: 81,144,966 (GRCm39) V126M probably benign Het
Cep295 A G 9: 15,246,210 (GRCm39) F749L possibly damaging Het
Cntrl T A 2: 35,018,036 (GRCm39) I482K possibly damaging Het
Col6a3 A G 1: 90,749,955 (GRCm39) F293S probably damaging Het
Dnah12 T G 14: 26,439,129 (GRCm39) M527R probably damaging Het
Dnhd1 G A 7: 105,343,273 (GRCm39) R1539H probably benign Het
Ece1 A G 4: 137,685,319 (GRCm39) Y603C probably damaging Het
Eea1 G A 10: 95,877,335 (GRCm39) A1350T possibly damaging Het
Exoc3l4 A T 12: 111,394,402 (GRCm39) K507N possibly damaging Het
Flt3l A T 7: 44,783,091 (GRCm39) probably null Het
Fn1 T C 1: 71,667,230 (GRCm39) Q834R probably benign Het
Haus5 C T 7: 30,358,401 (GRCm39) W298* probably null Het
Hycc2 T A 1: 58,569,034 (GRCm39) Y515F probably damaging Het
Ifih1 T C 2: 62,469,827 (GRCm39) N157D possibly damaging Het
Itga2 A C 13: 114,980,009 (GRCm39) M1064R probably benign Het
Itgae A G 11: 73,002,228 (GRCm39) probably null Het
Krtap10-4 T C 10: 77,662,883 (GRCm39) probably benign Het
Lamp3 A G 16: 19,518,431 (GRCm39) C269R probably damaging Het
Lrp5 T C 19: 3,709,355 (GRCm39) D125G probably damaging Het
Matn2 A C 15: 34,423,901 (GRCm39) E586D probably benign Het
Mef2b T A 8: 70,616,789 (GRCm39) probably null Het
Mrps22 A G 9: 98,483,524 (GRCm39) probably null Het
Mtmr2 T C 9: 13,711,325 (GRCm39) F445L probably damaging Het
Nxph4 A G 10: 127,362,237 (GRCm39) V218A probably damaging Het
Or1e23 A G 11: 73,408,001 (GRCm39) V8A probably benign Het
Or4f57 C T 2: 111,791,091 (GRCm39) G109D probably damaging Het
Or51k1 A G 7: 103,660,980 (GRCm39) S310P probably benign Het
Pdpk1 A T 17: 24,325,896 (GRCm39) V100D probably damaging Het
Phldb2 A C 16: 45,594,609 (GRCm39) S899A probably benign Het
Pnpla3 G A 15: 84,056,983 (GRCm39) probably null Het
Rasal2 A G 1: 157,126,757 (GRCm39) Y94H probably damaging Het
Rlf A T 4: 121,006,019 (GRCm39) I987N possibly damaging Het
Rprd2 A G 3: 95,687,753 (GRCm39) Y300H probably damaging Het
Setbp1 G A 18: 78,826,584 (GRCm39) S1343L probably benign Het
Sfswap A G 5: 129,648,105 (GRCm39) K938E possibly damaging Het
Shld2 A G 14: 33,990,129 (GRCm39) V259A probably benign Het
Slc3a1 A C 17: 85,335,860 (GRCm39) M1L probably damaging Het
Slco5a1 C T 1: 12,991,409 (GRCm39) V427I probably benign Het
Ssbp2 A T 13: 91,839,027 (GRCm39) M300L probably benign Het
Ssc5d A G 7: 4,940,521 (GRCm39) D878G probably damaging Het
Stk19 A G 17: 35,043,574 (GRCm39) L212P probably damaging Het
Stk39 T C 2: 68,240,387 (GRCm39) M115V possibly damaging Het
Syt17 A C 7: 118,033,466 (GRCm39) S181A probably benign Het
Taar7b A T 10: 23,875,849 (GRCm39) N5Y probably benign Het
Tmc4 A G 7: 3,680,421 (GRCm39) probably null Het
Tmem248 T A 5: 130,258,310 (GRCm39) M1K probably null Het
Tmem82 T A 4: 141,343,721 (GRCm39) Q183L probably damaging Het
Tpd52l1 T C 10: 31,214,203 (GRCm39) E142G probably damaging Het
Ttll2 A T 17: 7,619,167 (GRCm39) H253Q probably damaging Het
Ttn T C 2: 76,687,808 (GRCm39) probably benign Het
Ubd A G 17: 37,506,392 (GRCm39) K93E probably benign Het
Ugt2b35 T A 5: 87,149,415 (GRCm39) F222Y probably damaging Het
Vmn2r10 G T 5: 109,151,328 (GRCm39) N95K probably damaging Het
Vwa8 T C 14: 79,434,904 (GRCm39) V1775A probably benign Het
Zdbf2 A G 1: 63,346,981 (GRCm39) K1787E possibly damaging Het
Zfp26 A T 9: 20,348,582 (GRCm39) F661I probably damaging Het
Zfp735 A T 11: 73,602,504 (GRCm39) K483* probably null Het
Zfp946 A G 17: 22,673,519 (GRCm39) E91G probably damaging Het
Zic5 C A 14: 122,697,161 (GRCm39) D485Y unknown Het
Zmynd8 A T 2: 165,680,772 (GRCm39) D236E 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
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
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
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'- TCTGTCTAGGGACTGAGCTG -3'
(R):5'- GGCCGATATTAGACTTCCTACGTG -3'

Sequencing Primer
(F):5'- TCTAGGGACTGAGCTGGACCG -3'
(R):5'- GGTTTCTGTCAGGCCTAAGAAACTC -3'
Posted On 2018-04-27