Incidental Mutation 'R4704:Plekhg3'
ID 356312
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 041952-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4704 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 76580330-76627265 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 76625012 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 1285 (G1285W)
Ref Sequence ENSEMBL: ENSMUSP00000151851 (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 damaging
Transcript: ENSMUST00000075249
AA Change: G1286W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000074729
Gene: ENSMUSG00000052609
AA Change: G1286W

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: ENSMUST00000170532
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218427
Predicted Effect probably damaging
Transcript: ENSMUST00000219063
AA Change: G1285W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219426
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 97% (89/92)
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik A T 7: 130,959,259 (GRCm39) M147K probably damaging Het
Abca13 A G 11: 9,226,990 (GRCm39) D582G possibly damaging Het
Abca2 T C 2: 25,333,424 (GRCm39) L1683P probably damaging Het
Adam39 A G 8: 41,278,833 (GRCm39) H408R probably benign Het
Adcy4 A G 14: 56,012,482 (GRCm39) S554P possibly damaging Het
Ahnak T C 19: 8,990,545 (GRCm39) I3943T probably damaging Het
Ahnak T G 19: 8,989,622 (GRCm39) probably benign Het
Alkal2 T A 12: 30,937,195 (GRCm39) S109R probably damaging Het
Apobec4 A G 1: 152,632,001 (GRCm39) T10A probably benign Het
Arhgef40 A G 14: 52,239,767 (GRCm39) N1327S probably damaging Het
Arpc3 A G 5: 122,538,471 (GRCm39) M1V probably null Het
Ascc1 A G 10: 59,885,624 (GRCm39) Y225C probably damaging Het
Ascc3 A G 10: 50,535,110 (GRCm39) I668V probably benign Het
Bdnf T A 2: 109,554,037 (GRCm39) M137K possibly damaging Het
Cacna1b T C 2: 24,544,475 (GRCm39) D1231G probably damaging Het
Cds2 T A 2: 132,142,522 (GRCm39) Y239* probably null Het
Cpped1 G A 16: 11,703,493 (GRCm39) probably benign Het
Ctu2 G A 8: 123,206,042 (GRCm39) R261Q probably damaging Het
Cux1 A G 5: 136,278,055 (GRCm39) V645A probably benign Het
Cyp4f13 A G 17: 33,144,709 (GRCm39) C401R probably damaging Het
Dpt T G 1: 164,646,518 (GRCm39) Y162* probably null Het
Ednra A G 8: 78,394,592 (GRCm39) probably benign Het
Eepd1 A G 9: 25,394,122 (GRCm39) T129A probably benign Het
Eif2s1 A G 12: 78,923,944 (GRCm39) T134A probably benign Het
Eloa A G 4: 135,738,525 (GRCm39) V145A probably benign Het
Enam T A 5: 88,651,650 (GRCm39) L1053* probably null Het
Eng T C 2: 32,568,924 (GRCm39) S484P probably benign Het
Eogt A T 6: 97,090,813 (GRCm39) V442E probably damaging Het
Fam185a C T 5: 21,685,471 (GRCm39) probably benign Het
Gm4922 C T 10: 18,660,567 (GRCm39) V52I probably benign Het
Gnao1 A G 8: 94,538,004 (GRCm39) E14G probably benign Het
Gpr75 C A 11: 30,841,110 (GRCm39) A5D probably benign Het
Hbq1b T A 11: 32,237,448 (GRCm39) probably benign Het
Hdac7 G A 15: 97,694,097 (GRCm39) T724M probably damaging Het
Ifi204 C A 1: 173,587,927 (GRCm39) probably benign Het
Ift88 A G 14: 57,718,307 (GRCm39) probably benign Het
Irak4 A G 15: 94,464,781 (GRCm39) probably null Het
Kalrn T C 16: 34,024,327 (GRCm39) D610G probably damaging Het
Kifc2 T C 15: 76,547,177 (GRCm39) probably null Het
Kmt2c G A 5: 25,519,025 (GRCm39) Q2362* probably null Het
Kntc1 G A 5: 123,949,496 (GRCm39) E1956K probably damaging Het
Lama3 T C 18: 12,686,280 (GRCm39) V2781A probably benign Het
Lipt2 A G 7: 99,809,534 (GRCm39) E207G probably damaging Het
Mag A T 7: 30,608,598 (GRCm39) L172Q probably damaging Het
Map1b A T 13: 99,566,983 (GRCm39) C1913S unknown Het
Mical3 A G 6: 120,935,649 (GRCm39) S1626P probably benign Het
Mslnl G T 17: 25,957,952 (GRCm39) W65L possibly damaging Het
Muc20 G T 16: 32,599,448 (GRCm39) A3332S possibly damaging Het
Nadk C A 4: 155,669,684 (GRCm39) P157T probably benign Het
Nkx2-3 G A 19: 43,601,123 (GRCm39) E62K probably damaging Het
Or6c2 T C 10: 129,362,171 (GRCm39) L25P possibly damaging Het
Pclo A G 5: 14,726,494 (GRCm39) probably benign Het
Pcna-ps2 T A 19: 9,260,786 (GRCm39) V15E possibly damaging Het
Pramel29 A T 4: 143,935,162 (GRCm39) I193N probably damaging Het
Procr A G 2: 155,596,258 (GRCm39) S142G probably damaging Het
Ptpn3 A T 4: 57,270,119 (GRCm39) N14K possibly damaging Het
Rin1 C A 19: 5,105,018 (GRCm39) L693I probably damaging Het
Ripk4 C A 16: 97,547,204 (GRCm39) E290* probably null Het
Rnf213 A G 11: 119,331,175 (GRCm39) Y2128C probably damaging Het
Saal1 T C 7: 46,349,164 (GRCm39) probably benign Het
Selplg T C 5: 113,957,094 (GRCm39) D404G probably benign Het
Serpinf1 C A 11: 75,301,867 (GRCm39) A263S probably damaging Het
Sgo2b A T 8: 64,380,824 (GRCm39) D669E probably damaging Het
Slc30a9 T C 5: 67,499,616 (GRCm39) probably benign Het
Sri A T 5: 8,112,430 (GRCm39) probably null Het
Sspo G A 6: 48,475,638 (GRCm39) C4918Y probably damaging Het
Szt2 A G 4: 118,251,026 (GRCm39) Y361H probably damaging Het
Tbc1d12 T A 19: 38,889,781 (GRCm39) W404R probably damaging Het
Tcf20 T C 15: 82,735,928 (GRCm39) E1841G possibly damaging Het
Tep1 T C 14: 51,074,530 (GRCm39) T1832A probably benign Het
Tmem132e G A 11: 82,334,357 (GRCm39) A623T probably damaging Het
Tmem201 A T 4: 149,811,774 (GRCm39) F357Y possibly damaging Het
Trappc13 T G 13: 104,303,329 (GRCm39) probably benign Het
Trav6-5 C T 14: 53,728,883 (GRCm39) Q47* probably null Het
Ubxn1 T A 19: 8,849,399 (GRCm39) D47E probably benign Het
Vmn2r45 G T 7: 8,486,535 (GRCm39) S251* probably null Het
Wnk1 A G 6: 119,942,705 (GRCm39) L774S possibly damaging Het
Zfp189 T C 4: 49,530,081 (GRCm39) S395P probably damaging 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
R4080:Plekhg3 UTSW 12 76,624,755 (GRCm39) missense probably benign 0.02
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
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'- CGTAGAACCTCCCATGTCTG -3'
(R):5'- TCAACCCACAGAGTTCAAGG -3'

Sequencing Primer
(F):5'- GTAGAACCTCCCATGTCTGGCAAG -3'
(R):5'- AGTTCAAGGCCTGGAACTTC -3'
Posted On 2015-10-21