Incidental Mutation 'IGL02103:Plekhg2'
ID279860
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plekhg2
Ensembl Gene ENSMUSG00000037552
Gene Namepleckstrin homology domain containing, family G (with RhoGef domain) member 2
SynonymsClg
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.407) question?
Stock #IGL02103
Quality Score
Status
Chromosome7
Chromosomal Location28359604-28372599 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 28360076 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 1276 (R1276L)
Ref Sequence ENSEMBL: ENSMUSP00000113449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094644] [ENSMUST00000119990] [ENSMUST00000121085] [ENSMUST00000144700]
Predicted Effect probably damaging
Transcript: ENSMUST00000094644
AA Change: R1252L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000092228
Gene: ENSMUSG00000037552
AA Change: R1252L

DomainStartEndE-ValueType
low complexity region 34 45 N/A INTRINSIC
low complexity region 46 63 N/A INTRINSIC
low complexity region 73 88 N/A INTRINSIC
RhoGEF 103 279 3.98e-49 SMART
PH 305 410 3.01e-8 SMART
low complexity region 463 481 N/A INTRINSIC
low complexity region 582 605 N/A INTRINSIC
low complexity region 842 856 N/A INTRINSIC
low complexity region 1232 1246 N/A INTRINSIC
low complexity region 1268 1292 N/A INTRINSIC
low complexity region 1320 1334 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000119990
AA Change: R1251L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112881
Gene: ENSMUSG00000037552
AA Change: R1251L

DomainStartEndE-ValueType
low complexity region 45 62 N/A INTRINSIC
low complexity region 72 87 N/A INTRINSIC
RhoGEF 102 278 3.98e-49 SMART
PH 304 409 3.01e-8 SMART
low complexity region 462 480 N/A INTRINSIC
low complexity region 581 604 N/A INTRINSIC
low complexity region 841 855 N/A INTRINSIC
low complexity region 1231 1245 N/A INTRINSIC
low complexity region 1267 1291 N/A INTRINSIC
low complexity region 1319 1333 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000121085
AA Change: R1276L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113449
Gene: ENSMUSG00000037552
AA Change: R1276L

DomainStartEndE-ValueType
low complexity region 45 62 N/A INTRINSIC
low complexity region 72 87 N/A INTRINSIC
RhoGEF 102 278 3.98e-49 SMART
PH 304 409 3.01e-8 SMART
low complexity region 462 479 N/A INTRINSIC
low complexity region 606 629 N/A INTRINSIC
low complexity region 866 880 N/A INTRINSIC
low complexity region 1256 1270 N/A INTRINSIC
low complexity region 1292 1316 N/A INTRINSIC
low complexity region 1344 1358 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128015
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129145
Predicted Effect probably benign
Transcript: ENSMUST00000144700
SMART Domains Protein: ENSMUSP00000115651
Gene: ENSMUSG00000037552

DomainStartEndE-ValueType
low complexity region 45 62 N/A INTRINSIC
low complexity region 72 87 N/A INTRINSIC
RhoGEF 102 278 3.98e-49 SMART
PH 304 409 3.01e-8 SMART
low complexity region 462 480 N/A INTRINSIC
low complexity region 581 604 N/A INTRINSIC
low complexity region 841 855 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147767
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 G A 12: 84,612,364 T206M probably benign Het
Adcy3 T A 12: 4,134,390 V22D possibly damaging Het
Alb G A 5: 90,464,131 E140K probably benign Het
Aph1a G A 3: 95,895,813 V193I probably damaging Het
Asb2 G A 12: 103,333,496 R178* probably null Het
Celf3 A T 3: 94,486,801 Q137L probably damaging Het
Cmya5 T C 13: 93,092,127 D2151G probably benign Het
Cuedc1 T A 11: 88,188,799 S353T probably damaging Het
Dlg5 A C 14: 24,144,346 L1709R probably damaging Het
Dst T C 1: 34,190,118 I1939T possibly damaging Het
Emx2 A T 19: 59,461,698 N149I probably benign Het
Fancm A G 12: 65,095,784 D472G probably benign Het
Fasn T C 11: 120,811,936 Y1700C probably damaging Het
Fat2 T A 11: 55,289,296 R1406S probably damaging Het
Fat4 C A 3: 38,889,199 T747K probably damaging Het
Fer A G 17: 64,138,928 M795V probably benign Het
Gm5916 A G 9: 36,128,674 L6P probably damaging Het
Gpr139 A G 7: 119,145,132 F77L possibly damaging Het
Kcnu1 T C 8: 25,905,948 S654P possibly damaging Het
Kdm5c T A X: 152,248,766 F408L probably damaging Het
Kel A G 6: 41,702,389 S147P probably benign Het
Klra5 A T 6: 129,911,344 probably null Het
Mastl A G 2: 23,139,998 S239P probably benign Het
Med18 A T 4: 132,459,666 V174D probably damaging Het
Mgat4a A T 1: 37,462,926 M247K possibly damaging Het
Mx2 A C 16: 97,544,595 D71A probably damaging Het
Nxt1 G T 2: 148,675,644 E102* probably null Het
Olfr125 A G 17: 37,835,278 Q93R possibly damaging Het
Olfr410 A G 11: 74,335,036 F65S probably damaging Het
Olfr828 T C 9: 18,815,709 N195S probably damaging Het
Pcdhb16 T A 18: 37,480,108 V707E probably benign Het
Pdzrn4 T A 15: 92,769,887 V640E probably damaging Het
Piwil4 T C 9: 14,725,986 probably null Het
Pla2g4a A T 1: 149,901,199 D55E probably damaging Het
Psd4 G A 2: 24,400,528 W539* probably null Het
Rae1 G A 2: 173,003,513 E33K probably damaging Het
Rbm12b1 T A 4: 12,145,563 F512I probably damaging Het
Rfx6 A G 10: 51,726,856 D823G possibly damaging Het
Samt3 A T X: 86,047,153 Q217L probably damaging Het
Selenbp2 A G 3: 94,698,131 N134S probably null Het
Selenoo T C 15: 89,099,970 V663A probably damaging Het
Sp4 G T 12: 118,299,549 T254N probably damaging Het
Spdya A G 17: 71,578,247 K232R probably benign Het
Stom A T 2: 35,320,389 V201E probably benign Het
Sycp3 A G 10: 88,466,472 K108R possibly damaging Het
Usp2 A G 9: 44,089,128 probably benign Het
Vmn1r226 T C 17: 20,687,664 S53P probably damaging Het
Vmn2r14 C T 5: 109,224,483 G47D probably damaging Het
Vwf T G 6: 125,646,355 L1805W probably damaging Het
Washc3 A T 10: 88,201,825 Q22L probably damaging Het
Wdr81 T A 11: 75,444,720 D1761V probably damaging Het
Other mutations in Plekhg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00815:Plekhg2 APN 7 28360869 nonsense probably null
IGL00933:Plekhg2 APN 7 28360689 missense probably benign 0.01
IGL02037:Plekhg2 APN 7 28368697 missense probably damaging 1.00
IGL02598:Plekhg2 APN 7 28360475 missense possibly damaging 0.55
IGL02892:Plekhg2 APN 7 28362917 missense probably damaging 1.00
IGL03249:Plekhg2 APN 7 28368002 missense probably damaging 1.00
R0561:Plekhg2 UTSW 7 28370483 missense probably benign
R1134:Plekhg2 UTSW 7 28362001 missense probably damaging 0.99
R1619:Plekhg2 UTSW 7 28368421 missense probably damaging 1.00
R2225:Plekhg2 UTSW 7 28360335 missense probably benign 0.02
R4043:Plekhg2 UTSW 7 28364719 unclassified probably benign
R4117:Plekhg2 UTSW 7 28360888 missense probably benign 0.02
R4296:Plekhg2 UTSW 7 28371166 missense probably damaging 1.00
R4956:Plekhg2 UTSW 7 28368355 missense probably damaging 1.00
R5376:Plekhg2 UTSW 7 28362669 missense probably damaging 0.99
R5378:Plekhg2 UTSW 7 28362669 missense probably damaging 0.99
R5523:Plekhg2 UTSW 7 28370431 missense probably damaging 1.00
R5545:Plekhg2 UTSW 7 28362461 missense probably damaging 1.00
R5667:Plekhg2 UTSW 7 28367639 missense probably damaging 1.00
R5913:Plekhg2 UTSW 7 28364602 missense probably damaging 0.99
R6017:Plekhg2 UTSW 7 28362884 missense probably damaging 0.97
R6088:Plekhg2 UTSW 7 28361013 missense probably benign 0.01
R6912:Plekhg2 UTSW 7 28360259 missense probably benign 0.39
R7258:Plekhg2 UTSW 7 28364778 missense probably benign 0.00
Posted On2015-04-16