Incidental Mutation 'IGL00933:Plekhg2'
ID 27829
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plekhg2
Ensembl Gene ENSMUSG00000037552
Gene Name pleckstrin homology domain containing, family G (with RhoGef domain) member 2
Synonyms Clg
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.324) question?
Stock # IGL00933
Quality Score
Status
Chromosome 7
Chromosomal Location 28059029-28072024 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 28060114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 1072 (P1072S)
Ref Sequence ENSEMBL: ENSMUSP00000113449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094644] [ENSMUST00000119990] [ENSMUST00000121085] [ENSMUST00000144700]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000094644
AA Change: P1048S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000092228
Gene: ENSMUSG00000037552
AA Change: P1048S

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 benign
Transcript: ENSMUST00000119990
AA Change: P1047S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000112881
Gene: ENSMUSG00000037552
AA Change: P1047S

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 benign
Transcript: ENSMUST00000121085
AA Change: P1072S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000113449
Gene: ENSMUSG00000037552
AA Change: P1072S

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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arrdc3 T A 13: 81,039,174 (GRCm39) probably benign Het
Brca2 A G 5: 150,465,869 (GRCm39) S1878G probably benign Het
Cpa6 T C 1: 10,407,595 (GRCm39) H314R probably benign Het
Ehbp1l1 A G 19: 5,767,961 (GRCm39) I1114T probably benign Het
Eml3 G A 19: 8,913,762 (GRCm39) W73* probably null Het
Fmo4 G T 1: 162,621,592 (GRCm39) Q540K probably benign Het
Fstl4 G A 11: 53,077,588 (GRCm39) G782R possibly damaging Het
Itga11 T C 9: 62,676,587 (GRCm39) I925T possibly damaging Het
Itsn2 T G 12: 4,757,540 (GRCm39) F1411C probably damaging Het
Lmna A T 3: 88,389,856 (GRCm39) C590S possibly damaging Het
Magi3 A G 3: 103,923,163 (GRCm39) Y1185H probably benign Het
Marf1 A G 16: 13,935,221 (GRCm39) Y1516H probably damaging Het
Mast4 T C 13: 102,871,874 (GRCm39) D2306G probably damaging Het
Ncoa6 A G 2: 155,257,317 (GRCm39) V742A probably damaging Het
Nol4l A G 2: 153,319,856 (GRCm39) F175S probably damaging Het
Or9k2b A T 10: 130,016,083 (GRCm39) M222K probably benign Het
Orm2 T C 4: 63,282,389 (GRCm39) probably benign Het
Pik3cb T A 9: 98,983,339 (GRCm39) T90S probably damaging Het
Rgr A T 14: 36,760,875 (GRCm39) Y227* probably null Het
Snd1 T C 6: 28,512,985 (GRCm39) probably null Het
Zfp560 A G 9: 20,260,104 (GRCm39) S253P probably benign Het
Other mutations in Plekhg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00815:Plekhg2 APN 7 28,060,294 (GRCm39) nonsense probably null
IGL02037:Plekhg2 APN 7 28,068,122 (GRCm39) missense probably damaging 1.00
IGL02103:Plekhg2 APN 7 28,059,501 (GRCm39) missense probably damaging 1.00
IGL02598:Plekhg2 APN 7 28,059,900 (GRCm39) missense possibly damaging 0.55
IGL02892:Plekhg2 APN 7 28,062,342 (GRCm39) missense probably damaging 1.00
IGL03249:Plekhg2 APN 7 28,067,427 (GRCm39) missense probably damaging 1.00
R0561:Plekhg2 UTSW 7 28,069,908 (GRCm39) missense probably benign
R1134:Plekhg2 UTSW 7 28,061,426 (GRCm39) missense probably damaging 0.99
R1619:Plekhg2 UTSW 7 28,067,846 (GRCm39) missense probably damaging 1.00
R2225:Plekhg2 UTSW 7 28,059,760 (GRCm39) missense probably benign 0.02
R4043:Plekhg2 UTSW 7 28,064,144 (GRCm39) unclassified probably benign
R4117:Plekhg2 UTSW 7 28,060,313 (GRCm39) missense probably benign 0.02
R4296:Plekhg2 UTSW 7 28,070,591 (GRCm39) missense probably damaging 1.00
R4956:Plekhg2 UTSW 7 28,067,780 (GRCm39) missense probably damaging 1.00
R5376:Plekhg2 UTSW 7 28,062,094 (GRCm39) missense probably damaging 0.99
R5378:Plekhg2 UTSW 7 28,062,094 (GRCm39) missense probably damaging 0.99
R5523:Plekhg2 UTSW 7 28,069,856 (GRCm39) missense probably damaging 1.00
R5545:Plekhg2 UTSW 7 28,061,886 (GRCm39) missense probably damaging 1.00
R5667:Plekhg2 UTSW 7 28,067,064 (GRCm39) missense probably damaging 1.00
R5913:Plekhg2 UTSW 7 28,064,027 (GRCm39) missense probably damaging 0.99
R6017:Plekhg2 UTSW 7 28,062,309 (GRCm39) missense probably damaging 0.97
R6088:Plekhg2 UTSW 7 28,060,438 (GRCm39) missense probably benign 0.01
R6912:Plekhg2 UTSW 7 28,059,684 (GRCm39) missense probably benign 0.39
R7258:Plekhg2 UTSW 7 28,064,203 (GRCm39) missense probably benign 0.00
R7530:Plekhg2 UTSW 7 28,061,353 (GRCm39) missense probably damaging 1.00
R8054:Plekhg2 UTSW 7 28,064,741 (GRCm39) missense probably damaging 0.96
R8217:Plekhg2 UTSW 7 28,067,717 (GRCm39) missense probably null 1.00
R8441:Plekhg2 UTSW 7 28,060,291 (GRCm39) missense probably benign 0.34
R8855:Plekhg2 UTSW 7 28,069,526 (GRCm39) missense probably benign 0.25
R8877:Plekhg2 UTSW 7 28,060,278 (GRCm39) missense possibly damaging 0.74
R9234:Plekhg2 UTSW 7 28,064,215 (GRCm39) missense probably benign 0.21
R9464:Plekhg2 UTSW 7 28,062,297 (GRCm39) missense probably damaging 1.00
R9561:Plekhg2 UTSW 7 28,064,249 (GRCm39) missense probably damaging 0.96
R9593:Plekhg2 UTSW 7 28,059,710 (GRCm39) missense possibly damaging 0.56
R9773:Plekhg2 UTSW 7 28,069,743 (GRCm39) missense probably damaging 0.96
RF051:Plekhg2 UTSW 7 28,061,777 (GRCm39) frame shift probably null
Z1186:Plekhg2 UTSW 7 28,070,727 (GRCm39) intron probably benign
Z1186:Plekhg2 UTSW 7 28,062,360 (GRCm39) missense possibly damaging 0.77
Posted On 2013-04-17