Incidental Mutation 'R4080:Plekhg3'
ID 316831
Institutional Source Beutler Lab
Gene Symbol Plekhg3
Ensembl Gene ENSMUSG00000052609
Gene Name pleckstrin homology domain containing, family G (with RhoGef domain) member 3
Synonyms MGC40768
MMRRC Submission 040856-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4080 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 76580330-76627265 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 76624755 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 1200 (R1200L)
Ref Sequence ENSEMBL: ENSMUSP00000074729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021458] [ENSMUST00000075249] [ENSMUST00000219063]
AlphaFold Q4VAC9
Predicted Effect probably benign
Transcript: ENSMUST00000021458
SMART Domains Protein: ENSMUSP00000021458
Gene: ENSMUSG00000021061

DomainStartEndE-ValueType
CH 56 156 2.73e-26 SMART
CH 175 273 4.57e-28 SMART
SPEC 305 411 2.71e0 SMART
SPEC 425 525 4.65e-23 SMART
SPEC 531 634 4.51e-21 SMART
SPEC 640 740 3.02e-31 SMART
SPEC 746 845 1.47e-20 SMART
SPEC 851 951 1.04e-20 SMART
SPEC 957 1058 7.22e-20 SMART
SPEC 1064 1165 2.06e-24 SMART
SPEC 1171 1271 3.84e-15 SMART
SPEC 1277 1376 2.22e-20 SMART
SPEC 1382 1475 5.04e-10 SMART
SPEC 1481 1581 3.58e-24 SMART
SPEC 1587 1687 4.11e-24 SMART
SPEC 1693 1794 2.91e-24 SMART
SPEC 1800 1900 7.8e-16 SMART
SPEC 1906 2006 3.16e-25 SMART
SPEC 2012 2193 4.32e-9 SMART
PH 2180 2291 8.98e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000075249
AA Change: R1200L

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000074729
Gene: ENSMUSG00000052609
AA Change: R1200L

DomainStartEndE-ValueType
low complexity region 18 34 N/A INTRINSIC
RhoGEF 97 271 6.67e-51 SMART
PH 297 396 2.48e-9 SMART
coiled coil region 515 552 N/A INTRINSIC
low complexity region 563 585 N/A INTRINSIC
low complexity region 696 710 N/A INTRINSIC
low complexity region 727 737 N/A INTRINSIC
low complexity region 753 766 N/A INTRINSIC
low complexity region 978 993 N/A INTRINSIC
low complexity region 1233 1246 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218427
Predicted Effect probably benign
Transcript: ENSMUST00000219063
AA Change: R1199L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219426
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,109,497 (GRCm39) D324E possibly damaging Het
Adam7 T C 14: 68,757,988 (GRCm39) T245A probably benign Het
Adgrf3 G A 5: 30,402,367 (GRCm39) Q554* probably null Het
Aim2 T C 1: 173,287,417 (GRCm39) probably null Het
Arhgef1 G T 7: 24,625,271 (GRCm39) D850Y probably damaging Het
Aspm C A 1: 139,398,493 (GRCm39) Q1024K probably damaging Het
C7 T C 15: 5,019,946 (GRCm39) S734G probably benign Het
Ccdc158 A T 5: 92,771,255 (GRCm39) S987T probably benign Het
Chrna2 C A 14: 66,380,873 (GRCm39) Y47* probably null Het
Chrna2 G T 14: 66,380,866 (GRCm39) G45V probably benign Het
Clec2g C A 6: 128,958,287 (GRCm39) Q117K probably damaging Het
Cntnap5a A G 1: 116,029,304 (GRCm39) S253G probably benign Het
Cttn T A 7: 144,011,461 (GRCm39) D116V probably damaging Het
Cyp2c40 A G 19: 39,790,973 (GRCm39) V286A probably benign Het
Dcbld2 T A 16: 58,285,736 (GRCm39) S632T probably damaging Het
Dscam A T 16: 96,484,972 (GRCm39) N1118K probably benign Het
Eif2a C T 3: 58,447,050 (GRCm39) T92M possibly damaging Het
Frmpd1 T A 4: 45,284,382 (GRCm39) C1068S probably benign Het
Fstl1 G A 16: 37,642,965 (GRCm39) V110I probably benign Het
Gpat2 T C 2: 127,275,542 (GRCm39) I465T probably damaging Het
Gpr137 C T 19: 6,917,791 (GRCm39) probably benign Het
Hgsnat A G 8: 26,436,371 (GRCm39) I561T probably benign Het
Ift74 T A 4: 94,541,149 (GRCm39) probably null Het
Ilf3 A G 9: 21,314,430 (GRCm39) probably null Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lrrc41 C A 4: 115,937,743 (GRCm39) probably null Het
Myh11 C A 16: 14,041,923 (GRCm39) R700L possibly damaging Het
Myo16 A G 8: 10,612,240 (GRCm39) D1295G probably damaging Het
Myo5b A G 18: 74,873,559 (GRCm39) M1488V probably benign Het
Naip6 A T 13: 100,435,815 (GRCm39) Y903N probably damaging Het
Nek6 A G 2: 38,440,649 (GRCm39) H19R probably damaging Het
Nktr A C 9: 121,570,192 (GRCm39) T127P probably damaging Het
Noc4l A T 5: 110,797,738 (GRCm39) D335E probably benign Het
Nsd1 A G 13: 55,449,622 (GRCm39) D1993G probably damaging Het
Or1ad1 G A 11: 50,875,683 (GRCm39) D52N probably damaging Het
Or5h22 A T 16: 58,894,619 (GRCm39) F275I probably damaging Het
Pabpc2 A T 18: 39,908,583 (GRCm39) Q616L possibly damaging Het
Pcdhga4 A T 18: 37,818,832 (GRCm39) D127V probably damaging Het
Phrf1 T C 7: 140,839,633 (GRCm39) probably benign Het
Phtf2 T A 5: 21,018,294 (GRCm39) I16F probably damaging Het
Plod3 G C 5: 137,017,000 (GRCm39) A50P probably benign Het
Prorp G T 12: 55,351,398 (GRCm39) V236F possibly damaging Het
Prss12 A G 3: 123,279,134 (GRCm39) N404D probably benign Het
Ptch2 C G 4: 116,968,403 (GRCm39) A926G probably damaging Het
Ptpra T C 2: 30,333,317 (GRCm39) F6L probably damaging Het
Reck T C 4: 43,942,293 (GRCm39) I853T possibly damaging Het
Reep6 G A 10: 80,165,996 (GRCm39) probably benign Het
Rex2 T A 4: 147,143,154 (GRCm39) S547R probably benign Het
Rgs22 C T 15: 36,107,222 (GRCm39) E55K probably damaging Het
Rtl6 T C 15: 84,441,202 (GRCm39) T65A possibly damaging Het
Scarb1 G T 5: 125,354,859 (GRCm39) P491Q probably damaging Het
Scfd1 A G 12: 51,478,302 (GRCm39) S505G probably benign Het
Scube1 T G 15: 83,492,948 (GRCm39) Q904P probably damaging Het
Sis T C 3: 72,828,517 (GRCm39) Y1186C probably damaging Het
Spta1 A G 1: 174,041,632 (GRCm39) D1334G probably benign Het
Spty2d1 T C 7: 46,648,329 (GRCm39) E200G probably damaging Het
Stard13 C A 5: 151,016,294 (GRCm39) probably null Het
Sybu T C 15: 44,582,339 (GRCm39) K95R probably damaging Het
Trappc9 T A 15: 72,813,796 (GRCm39) D488V probably damaging Het
Txk G A 5: 72,858,006 (GRCm39) P381S probably damaging Het
Ubr2 A T 17: 47,299,648 (GRCm39) M198K probably benign Het
Unc5a A T 13: 55,152,294 (GRCm39) T786S possibly damaging Het
Unc93b1 G A 19: 3,991,959 (GRCm39) R231Q probably damaging Het
Wfdc1 T A 8: 120,410,532 (GRCm39) probably null Het
Zfp667 T G 7: 6,308,105 (GRCm39) C258G possibly damaging Het
Zfr G A 15: 12,162,319 (GRCm39) R823H probably benign Het
Other mutations in Plekhg3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01079:Plekhg3 APN 12 76,609,052 (GRCm39) missense possibly damaging 0.78
IGL01143:Plekhg3 APN 12 76,611,756 (GRCm39) critical splice donor site probably null
IGL02079:Plekhg3 APN 12 76,607,203 (GRCm39) missense probably benign 0.01
IGL02349:Plekhg3 APN 12 76,609,074 (GRCm39) missense probably damaging 1.00
IGL02442:Plekhg3 APN 12 76,625,127 (GRCm39) missense probably benign 0.01
IGL02570:Plekhg3 APN 12 76,625,019 (GRCm39) missense probably benign
flagging UTSW 12 76,607,294 (GRCm39) critical splice donor site probably null
R0667_Plekhg3_072 UTSW 12 76,623,372 (GRCm39) missense probably damaging 1.00
trailing UTSW 12 76,611,735 (GRCm39) missense probably benign 0.15
R0344:Plekhg3 UTSW 12 76,613,040 (GRCm39) nonsense probably null
R0667:Plekhg3 UTSW 12 76,623,372 (GRCm39) missense probably damaging 1.00
R1269:Plekhg3 UTSW 12 76,607,243 (GRCm39) missense probably damaging 1.00
R1566:Plekhg3 UTSW 12 76,618,839 (GRCm39) missense possibly damaging 0.54
R1905:Plekhg3 UTSW 12 76,622,991 (GRCm39) missense probably benign 0.05
R2885:Plekhg3 UTSW 12 76,611,735 (GRCm39) missense probably benign 0.15
R2962:Plekhg3 UTSW 12 76,619,433 (GRCm39) critical splice donor site probably null
R3784:Plekhg3 UTSW 12 76,607,294 (GRCm39) critical splice donor site probably null
R3941:Plekhg3 UTSW 12 76,620,133 (GRCm39) missense probably damaging 0.98
R4056:Plekhg3 UTSW 12 76,612,021 (GRCm39) missense probably damaging 1.00
R4412:Plekhg3 UTSW 12 76,624,538 (GRCm39) missense probably damaging 0.96
R4413:Plekhg3 UTSW 12 76,624,538 (GRCm39) missense probably damaging 0.96
R4704:Plekhg3 UTSW 12 76,625,012 (GRCm39) missense probably damaging 1.00
R4720:Plekhg3 UTSW 12 76,625,096 (GRCm39) missense possibly damaging 0.59
R4738:Plekhg3 UTSW 12 76,623,688 (GRCm39) missense probably damaging 1.00
R4898:Plekhg3 UTSW 12 76,610,899 (GRCm39) missense probably damaging 1.00
R4994:Plekhg3 UTSW 12 76,612,311 (GRCm39) missense possibly damaging 0.68
R4999:Plekhg3 UTSW 12 76,612,021 (GRCm39) missense possibly damaging 0.95
R5484:Plekhg3 UTSW 12 76,625,174 (GRCm39) missense possibly damaging 0.76
R5591:Plekhg3 UTSW 12 76,607,066 (GRCm39) missense possibly damaging 0.80
R6019:Plekhg3 UTSW 12 76,624,715 (GRCm39) nonsense probably null
R6147:Plekhg3 UTSW 12 76,611,985 (GRCm39) missense probably damaging 0.96
R6272:Plekhg3 UTSW 12 76,623,619 (GRCm39) missense probably benign 0.00
R6482:Plekhg3 UTSW 12 76,622,778 (GRCm39) missense probably benign 0.01
R7081:Plekhg3 UTSW 12 76,625,019 (GRCm39) missense probably benign
R7349:Plekhg3 UTSW 12 76,611,339 (GRCm39) missense probably benign 0.45
R7439:Plekhg3 UTSW 12 76,623,259 (GRCm39) missense probably damaging 1.00
R7449:Plekhg3 UTSW 12 76,612,996 (GRCm39) missense probably damaging 0.98
R7879:Plekhg3 UTSW 12 76,612,343 (GRCm39) missense probably damaging 1.00
R8256:Plekhg3 UTSW 12 76,609,041 (GRCm39) missense probably damaging 0.98
R8298:Plekhg3 UTSW 12 76,623,852 (GRCm39) missense probably damaging 1.00
R8492:Plekhg3 UTSW 12 76,622,790 (GRCm39) missense probably benign
R8886:Plekhg3 UTSW 12 76,611,748 (GRCm39) missense possibly damaging 0.81
R9090:Plekhg3 UTSW 12 76,622,694 (GRCm39) missense probably benign
R9117:Plekhg3 UTSW 12 76,624,905 (GRCm39) missense probably benign
R9220:Plekhg3 UTSW 12 76,618,839 (GRCm39) missense probably benign 0.18
R9271:Plekhg3 UTSW 12 76,622,694 (GRCm39) missense probably benign
R9294:Plekhg3 UTSW 12 76,609,052 (GRCm39) missense possibly damaging 0.78
R9394:Plekhg3 UTSW 12 76,623,862 (GRCm39) missense probably damaging 0.99
R9468:Plekhg3 UTSW 12 76,607,009 (GRCm39) missense probably damaging 0.98
R9711:Plekhg3 UTSW 12 76,611,726 (GRCm39) missense possibly damaging 0.83
R9747:Plekhg3 UTSW 12 76,611,367 (GRCm39) missense probably damaging 1.00
X0062:Plekhg3 UTSW 12 76,620,117 (GRCm39) missense possibly damaging 0.89
Z1176:Plekhg3 UTSW 12 76,622,630 (GRCm39) critical splice acceptor site probably null
Z1177:Plekhg3 UTSW 12 76,625,102 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTGCTGTTAGCCCAAGAAC -3'
(R):5'- TCTCCATAATGATCACTCGCTGG -3'

Sequencing Primer
(F):5'- AGAACCACCTCACCTGGGG -3'
(R):5'- TCTCCAGGGTAAGGTCTGC -3'
Posted On 2015-05-15