Incidental Mutation 'R8298:Plekhg3'
ID 639095
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 067786-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8298 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 76580330-76627265 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 76623852 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 1032 (H1032Y)
Ref Sequence ENSEMBL: ENSMUSP00000074729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021458] [ENSMUST00000075249]
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: H1032Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000074729
Gene: ENSMUSG00000052609
AA Change: H1032Y

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 97% (62/64)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930453N24Rik A G 16: 64,586,695 (GRCm39) L343P probably benign Het
Aak1 T A 6: 86,902,061 (GRCm39) F77I possibly damaging Het
Abca3 T C 17: 24,604,375 (GRCm39) L582P probably damaging Het
Acat1 A T 9: 53,505,724 (GRCm39) S136R probably damaging Het
Adamts2 T C 11: 50,667,958 (GRCm39) F507L possibly damaging Het
Adcy3 G A 12: 4,256,482 (GRCm39) A763T probably damaging Het
Adgrv1 A T 13: 81,534,033 (GRCm39) C5849* probably null Het
Adrb2 A T 18: 62,311,753 (GRCm39) N357K probably benign Het
Ak9 A G 10: 41,265,054 (GRCm39) E404G Het
Akap13 T C 7: 75,397,552 (GRCm39) L2576P probably damaging Het
Armcx5 AGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTA AGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTA X: 134,646,453 (GRCm39) probably benign Het
Arv1 A G 8: 125,455,111 (GRCm39) Y108C probably damaging Het
Casp8ap2 T A 4: 32,640,429 (GRCm39) H494Q probably benign Het
Ccdc88b A G 19: 6,827,649 (GRCm39) L951P probably damaging Het
D830039M14Rik A T 10: 61,311,362 (GRCm39) M160K noncoding transcript Het
Dbf4 A G 5: 8,462,115 (GRCm39) probably benign Het
Dennd4a A G 9: 64,814,157 (GRCm39) D1458G probably benign Het
Dock10 T C 1: 80,514,654 (GRCm39) K1422R probably benign Het
Dyrk3 C T 1: 131,057,112 (GRCm39) D354N probably damaging Het
Epha3 T A 16: 63,386,961 (GRCm39) I892F probably benign Het
Evi5 G A 5: 107,964,731 (GRCm39) S317L possibly damaging Het
Evl C T 12: 108,619,232 (GRCm39) P76S probably benign Het
Fyb2 A C 4: 104,806,028 (GRCm39) E369D probably damaging Het
Gm10000 T C 12: 104,442,436 (GRCm39) probably benign Het
Gm1979 T C 5: 26,206,148 (GRCm39) N190S probably damaging Het
Gm3633 T C 14: 42,462,675 (GRCm39) E72G Het
Gm5414 T C 15: 101,532,605 (GRCm39) Y506C unknown Het
Gm572 T A 4: 148,742,550 (GRCm39) H96Q possibly damaging Het
Gml T C 15: 74,685,541 (GRCm39) E148G probably damaging Het
Got1l1 T C 8: 27,688,586 (GRCm39) D255G probably benign Het
Hydin A G 8: 111,327,015 (GRCm39) N4785D probably damaging Het
Kcnk12 A T 17: 88,104,713 (GRCm39) F57Y probably damaging Het
Klhdc9 C A 1: 171,186,429 (GRCm39) G336C probably damaging Het
Kprp T C 3: 92,732,607 (GRCm39) T148A probably damaging Het
Lama3 G A 18: 12,658,910 (GRCm39) R2022Q probably benign Het
Lelp1 A T 3: 92,042,927 (GRCm39) S41T unknown Het
Lnx2 A T 5: 146,961,327 (GRCm39) M535K probably benign Het
Mmp9 T A 2: 164,792,279 (GRCm39) F294L probably null Het
Myo7a T C 7: 97,747,541 (GRCm39) Y97C probably damaging Het
Nav2 T C 7: 49,204,009 (GRCm39) probably null Het
Ndufaf3 T C 9: 108,444,120 (GRCm39) T3A probably benign Het
Nrxn1 A G 17: 91,011,597 (GRCm39) I344T probably damaging Het
Or1j1 T C 2: 36,703,038 (GRCm39) E22G probably benign Het
Or5ap2 T C 2: 85,680,533 (GRCm39) S246P probably damaging Het
Or5w14 A T 2: 87,541,376 (GRCm39) S291R probably damaging Het
Pccb T C 9: 100,867,885 (GRCm39) D384G probably damaging Het
Ppfia3 A G 7: 45,009,618 (GRCm39) S125P probably damaging Het
Prl7a2 T C 13: 27,844,994 (GRCm39) M131V probably benign Het
Prmt3 A G 7: 49,507,186 (GRCm39) T517A probably benign Het
Prpf4b A G 13: 35,072,166 (GRCm39) H491R unknown Het
Rhot1 T A 11: 80,137,502 (GRCm39) C335S probably benign Het
Robo1 C T 16: 72,769,020 (GRCm39) probably benign Het
Samd3 A T 10: 26,121,468 (GRCm39) D195V probably damaging Het
Sh3gl2 T A 4: 85,297,647 (GRCm39) D208E possibly damaging Het
Spta1 A T 1: 174,074,953 (GRCm39) D2393V probably damaging Het
Tgs1 T C 4: 3,605,840 (GRCm39) L785P probably damaging Het
Tmem25 C T 9: 44,710,116 (GRCm39) probably benign Het
Trappc10 A G 10: 78,038,753 (GRCm39) Y780H probably damaging Het
Ttn C A 2: 76,557,511 (GRCm39) W29861L probably damaging Het
Usp1 T A 4: 98,819,136 (GRCm39) D199E probably damaging Het
Vmn2r40 A G 7: 8,911,148 (GRCm39) I715T Het
Zfp169 G A 13: 48,651,853 (GRCm39) Q68* probably null Het
Zfp418 T A 7: 7,185,814 (GRCm39) Y592* probably null Het
Zfp712 A G 13: 67,188,976 (GRCm39) V517A probably benign Het
Zfp934 A T 13: 62,666,295 (GRCm39) H146Q Het
Zgrf1 T C 3: 127,408,878 (GRCm39) S1662P 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
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
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'- CATCACTGAGGAGTCTGCTG -3'
(R):5'- AGGCTCACTGTATACCATGCG -3'

Sequencing Primer
(F):5'- TGTCGCCTCTCCAGAAAGTG -3'
(R):5'- GGAGCTAAATGGTTTTTCTACCC -3'
Posted On 2020-07-28