Incidental Mutation 'R0370:Plekhg6'
ID 30423
Institutional Source Beutler Lab
Gene Symbol Plekhg6
Ensembl Gene ENSMUSG00000038167
Gene Name pleckstrin homology domain containing, family G (with RhoGef domain) member 6
Synonyms LOC213522
MMRRC Submission 038576-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R0370 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 125339623-125357756 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 125347623 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 444 (R444C)
Ref Sequence ENSEMBL: ENSMUSP00000037004 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042647]
AlphaFold Q8R0J1
Predicted Effect probably damaging
Transcript: ENSMUST00000042647
AA Change: R444C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000037004
Gene: ENSMUSG00000038167
AA Change: R444C

DomainStartEndE-ValueType
RhoGEF 165 352 1.5e-44 SMART
PH 410 511 8.99e-7 SMART
low complexity region 535 557 N/A INTRINSIC
low complexity region 627 648 N/A INTRINSIC
low complexity region 719 731 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l1 T C 8: 124,228,293 (GRCm39) S666P probably damaging Het
B3gntl1 A T 11: 121,514,980 (GRCm39) W263R probably damaging Het
Carmil3 A G 14: 55,732,899 (GRCm39) N270S possibly damaging Het
Ctdp1 T C 18: 80,492,569 (GRCm39) E642G probably damaging Het
Cyp2b9 A T 7: 25,909,531 (GRCm39) K433M probably damaging Het
Dcc A G 18: 71,721,056 (GRCm39) V435A possibly damaging Het
Defa26 A T 8: 22,108,875 (GRCm39) M87L probably benign Het
Dnah11 T A 12: 117,958,962 (GRCm39) I2974L probably benign Het
Dnah3 T C 7: 119,685,943 (GRCm39) D131G possibly damaging Het
Dock6 A T 9: 21,725,861 (GRCm39) S1447R probably benign Het
Dtl G T 1: 191,307,462 (GRCm39) N17K probably benign Het
Grid2 A G 6: 64,322,718 (GRCm39) I573V possibly damaging Het
Hoxa9 T C 6: 52,202,684 (GRCm39) E134G possibly damaging Het
Kcnn3 A T 3: 89,574,399 (GRCm39) N637I probably damaging Het
Ktn1 T C 14: 47,901,532 (GRCm39) F97L probably benign Het
Lmbrd2 T C 15: 9,165,939 (GRCm39) I271T probably damaging Het
Lrp6 A C 6: 134,456,729 (GRCm39) I845S probably damaging Het
Med13l T A 5: 118,879,891 (GRCm39) N994K probably benign Het
Mrrf A T 2: 36,067,125 (GRCm39) probably null Het
Mtmr1 G A X: 70,431,837 (GRCm39) V125I probably damaging Het
Nol8 C T 13: 49,815,923 (GRCm39) A677V possibly damaging Het
Or13g1 T A 7: 85,956,057 (GRCm39) N88I probably benign Het
Or51k1 T G 7: 103,661,266 (GRCm39) L214F probably damaging Het
Or8k3 A T 2: 86,059,057 (GRCm39) V86D probably damaging Het
Paxip1 C A 5: 27,965,084 (GRCm39) V659F probably damaging Het
Pclo T C 5: 14,571,104 (GRCm39) V163A probably damaging Het
Pkn3 T A 2: 29,977,184 (GRCm39) H641Q probably damaging Het
Rfx2 T C 17: 57,106,308 (GRCm39) E175G probably benign Het
Samd9l A C 6: 3,377,264 (GRCm39) probably benign Het
Sec14l5 A T 16: 4,998,570 (GRCm39) T537S probably damaging Het
Serpinb9d A G 13: 33,379,949 (GRCm39) E96G probably damaging Het
Setd4 T C 16: 93,388,006 (GRCm39) E160G probably damaging Het
Sf3b2 C T 19: 5,324,852 (GRCm39) D845N probably damaging Het
Slc16a4 A G 3: 107,208,413 (GRCm39) I308V possibly damaging Het
Slco2b1 T A 7: 99,339,644 (GRCm39) N100Y probably damaging Het
Sptbn1 A T 11: 30,071,545 (GRCm39) S1475R probably benign Het
Tecta T C 9: 42,278,100 (GRCm39) D1136G probably benign Het
Tmem94 G C 11: 115,679,543 (GRCm39) R273S probably damaging Het
Tns3 A G 11: 8,395,730 (GRCm39) S1225P possibly damaging Het
Ugt2b36 A G 5: 87,239,834 (GRCm39) Y184H probably benign Het
Vmn2r59 A T 7: 41,662,150 (GRCm39) M555K probably benign Het
Other mutations in Plekhg6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00918:Plekhg6 APN 6 125,349,514 (GRCm39) missense probably null 0.89
IGL01466:Plekhg6 APN 6 125,349,587 (GRCm39) splice site probably benign
IGL01621:Plekhg6 APN 6 125,349,062 (GRCm39) missense probably damaging 1.00
IGL01679:Plekhg6 APN 6 125,351,942 (GRCm39) missense probably benign 0.45
IGL01696:Plekhg6 APN 6 125,355,793 (GRCm39) missense probably benign 0.00
IGL02600:Plekhg6 APN 6 125,347,563 (GRCm39) nonsense probably null
IGL02604:Plekhg6 APN 6 125,354,342 (GRCm39) splice site probably benign
IGL02668:Plekhg6 APN 6 125,349,766 (GRCm39) splice site probably benign
R0426:Plekhg6 UTSW 6 125,341,592 (GRCm39) splice site probably null
R1182:Plekhg6 UTSW 6 125,349,455 (GRCm39) missense probably damaging 0.99
R1401:Plekhg6 UTSW 6 125,340,072 (GRCm39) missense probably damaging 1.00
R1855:Plekhg6 UTSW 6 125,352,802 (GRCm39) missense probably damaging 1.00
R1888:Plekhg6 UTSW 6 125,340,306 (GRCm39) missense probably damaging 1.00
R1888:Plekhg6 UTSW 6 125,340,306 (GRCm39) missense probably damaging 1.00
R2264:Plekhg6 UTSW 6 125,354,431 (GRCm39) missense probably benign 0.00
R2991:Plekhg6 UTSW 6 125,347,432 (GRCm39) missense probably damaging 0.99
R3980:Plekhg6 UTSW 6 125,350,146 (GRCm39) missense probably damaging 1.00
R4193:Plekhg6 UTSW 6 125,350,081 (GRCm39) missense probably benign 0.01
R4227:Plekhg6 UTSW 6 125,355,768 (GRCm39) missense probably damaging 0.99
R4689:Plekhg6 UTSW 6 125,350,144 (GRCm39) missense probably benign 0.43
R5532:Plekhg6 UTSW 6 125,349,514 (GRCm39) missense possibly damaging 0.80
R5573:Plekhg6 UTSW 6 125,352,755 (GRCm39) missense possibly damaging 0.56
R6803:Plekhg6 UTSW 6 125,340,626 (GRCm39) missense probably damaging 0.98
R6885:Plekhg6 UTSW 6 125,355,693 (GRCm39) missense probably benign
R7105:Plekhg6 UTSW 6 125,355,768 (GRCm39) missense probably damaging 0.99
R7599:Plekhg6 UTSW 6 125,351,623 (GRCm39) missense probably damaging 0.99
R7626:Plekhg6 UTSW 6 125,340,631 (GRCm39) missense probably benign 0.08
R8069:Plekhg6 UTSW 6 125,340,009 (GRCm39) missense probably benign 0.04
R8204:Plekhg6 UTSW 6 125,340,461 (GRCm39) missense probably damaging 1.00
R8685:Plekhg6 UTSW 6 125,352,755 (GRCm39) missense possibly damaging 0.56
R8885:Plekhg6 UTSW 6 125,351,523 (GRCm39) missense probably damaging 0.98
R9181:Plekhg6 UTSW 6 125,355,854 (GRCm39) start gained probably benign
R9342:Plekhg6 UTSW 6 125,340,023 (GRCm39) missense probably damaging 1.00
R9701:Plekhg6 UTSW 6 125,347,602 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- TAGCTGCCACAGGCTTTCTCAGAC -3'
(R):5'- TTAGGCTCACAGGCAAAGAGCCAG -3'

Sequencing Primer
(F):5'- TCTCAGACTCTGGAAGGCATC -3'
(R):5'- GCCAGAACCCTGGAGAAGC -3'
Posted On 2013-04-24