Incidental Mutation 'IGL01062:Plekhg5'
ID50827
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plekhg5
Ensembl Gene ENSMUSG00000039713
Gene Namepleckstrin homology domain containing, family G (with RhoGef domain) member 5
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.205) question?
Stock #IGL01062
Quality Score
Status
Chromosome4
Chromosomal Location152072498-152115400 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 152108496 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Asparagine at position 603 (D603N)
Ref Sequence ENSEMBL: ENSMUSP00000112707 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084115] [ENSMUST00000105661] [ENSMUST00000105662] [ENSMUST00000118648]
Predicted Effect probably damaging
Transcript: ENSMUST00000084115
AA Change: D616N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000081132
Gene: ENSMUSG00000039713
AA Change: D616N

DomainStartEndE-ValueType
low complexity region 314 334 N/A INTRINSIC
low complexity region 369 380 N/A INTRINSIC
RhoGEF 410 597 5.21e-53 SMART
PH 655 756 7.35e-12 SMART
low complexity region 778 790 N/A INTRINSIC
low complexity region 895 934 N/A INTRINSIC
low complexity region 1060 1069 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000105661
AA Change: D616N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101286
Gene: ENSMUSG00000039713
AA Change: D616N

DomainStartEndE-ValueType
low complexity region 314 334 N/A INTRINSIC
low complexity region 369 380 N/A INTRINSIC
RhoGEF 410 597 5.21e-53 SMART
PH 655 756 7.35e-12 SMART
low complexity region 778 790 N/A INTRINSIC
low complexity region 895 934 N/A INTRINSIC
low complexity region 1060 1069 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000105662
AA Change: D584N

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101287
Gene: ENSMUSG00000039713
AA Change: D584N

DomainStartEndE-ValueType
low complexity region 282 302 N/A INTRINSIC
low complexity region 337 348 N/A INTRINSIC
RhoGEF 378 565 5.21e-53 SMART
PH 623 724 7.35e-12 SMART
low complexity region 746 758 N/A INTRINSIC
low complexity region 863 902 N/A INTRINSIC
low complexity region 1028 1037 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000118648
AA Change: D603N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112707
Gene: ENSMUSG00000039713
AA Change: D603N

DomainStartEndE-ValueType
low complexity region 301 321 N/A INTRINSIC
low complexity region 356 367 N/A INTRINSIC
RhoGEF 397 584 5.21e-53 SMART
PH 642 743 7.35e-12 SMART
low complexity region 765 777 N/A INTRINSIC
low complexity region 882 921 N/A INTRINSIC
low complexity region 1047 1056 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123615
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140085
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142412
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a protein belonging to the Rho guanine exchange factor (GEF) family of proteins, which activate GTPases by replacing GDP with GTP. This family member is a RhoA GEF that plays a role in endothelial cell migration and tube formation. It is required for angiogenesis and may function in neuronal cell differentiation. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Oct 2013]
PHENOTYPE: Mice homozygous for a knock-out allele display angiogenic defects that affect multiple organs, including sparser coronary and kidney arterial systems that appear to deficient in small diameter vessels while the major coronary and kidney arteries remain intact. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110017D15Rik T A 4: 41,511,433 E93D probably damaging Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Amer3 A G 1: 34,586,739 K20E probably damaging Het
Arhgap31 A G 16: 38,601,456 L1416P probably damaging Het
Avpr1a G A 10: 122,449,529 C242Y probably damaging Het
Bclaf3 T C X: 159,553,419 Y281H probably benign Het
Cdc14a T A 3: 116,274,712 probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Cntn4 T C 6: 106,618,278 probably benign Het
Cyp3a44 T A 5: 145,794,339 D217V possibly damaging Het
Eprs A G 1: 185,379,615 E274G probably benign Het
Ercc6l2 G T 13: 63,847,454 Q354H probably null Het
Glb1l A T 1: 75,201,238 I392N probably damaging Het
Gm3173 T C 14: 4,514,887 probably null Het
Grasp A G 15: 101,228,896 probably benign Het
Hadh C T 3: 131,240,991 V219M probably damaging Het
Hspb9 A G 11: 100,713,935 H29R possibly damaging Het
Iqgap3 G T 3: 88,110,122 V240L probably benign Het
Jmjd1c T C 10: 67,226,715 S1616P probably damaging Het
Knl1 A G 2: 119,076,980 I1662V probably benign Het
Mapre3 A G 5: 30,864,896 I236V probably benign Het
Med17 T C 9: 15,279,621 E58G probably benign Het
Myh6 T C 14: 54,952,292 E1099G probably damaging Het
Myt1 T A 2: 181,797,729 V348D probably damaging Het
Nat10 A T 2: 103,743,048 I368N probably damaging Het
Nol6 T C 4: 41,118,205 I811V probably benign Het
Oas1d C A 5: 120,919,064 Y244* probably null Het
Olfr49 A T 14: 54,282,724 M57K probably damaging Het
Osbpl1a A G 18: 12,905,075 V273A probably benign Het
Pigw T C 11: 84,877,943 R187G probably benign Het
Ptprk T C 10: 28,580,418 V1058A probably damaging Het
Robo4 G A 9: 37,406,000 S537N probably benign Het
Rptn T A 3: 93,397,182 F607L probably benign Het
Sall1 A G 8: 89,033,344 V44A probably damaging Het
Sh3bp4 C A 1: 89,143,960 Q177K probably benign Het
Srrt C A 5: 137,296,307 G779V probably damaging Het
Tex21 T C 12: 76,198,944 D526G probably benign Het
Tmem57 A T 4: 134,833,297 V125E probably damaging Het
Ttc37 T A 13: 76,155,462 L1225* probably null Het
Vmn1r10 A G 6: 57,113,836 S138G possibly damaging Het
Yars2 C T 16: 16,306,542 R338* probably null Het
Zfp454 T C 11: 50,874,206 E22G probably benign Het
Zzef1 T A 11: 72,874,969 C1441S probably benign Het
Other mutations in Plekhg5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Plekhg5 APN 4 152102041 splice site probably null
IGL01025:Plekhg5 APN 4 152108526 missense probably damaging 1.00
IGL01138:Plekhg5 APN 4 152106978 missense probably damaging 1.00
IGL01301:Plekhg5 APN 4 152112553 missense probably benign
IGL02372:Plekhg5 APN 4 152102080 missense probably damaging 0.96
IGL02701:Plekhg5 APN 4 152103022 missense probably damaging 1.00
ANU18:Plekhg5 UTSW 4 152112553 missense probably benign
R0005:Plekhg5 UTSW 4 152112651 small deletion probably benign
R0012:Plekhg5 UTSW 4 152104750 missense probably benign 0.20
R0050:Plekhg5 UTSW 4 152108088 critical splice donor site probably null
R0233:Plekhg5 UTSW 4 152112219 missense probably damaging 1.00
R0233:Plekhg5 UTSW 4 152112219 missense probably damaging 1.00
R0234:Plekhg5 UTSW 4 152112219 missense probably damaging 1.00
R0346:Plekhg5 UTSW 4 152114253 missense probably benign 0.08
R0555:Plekhg5 UTSW 4 152107469 nonsense probably null
R0631:Plekhg5 UTSW 4 152112419 missense possibly damaging 0.89
R0639:Plekhg5 UTSW 4 152114120 missense probably benign 0.19
R1372:Plekhg5 UTSW 4 152104731 missense probably damaging 0.99
R1563:Plekhg5 UTSW 4 152096809 missense probably benign 0.33
R2870:Plekhg5 UTSW 4 152107503 missense probably benign 0.01
R2870:Plekhg5 UTSW 4 152107503 missense probably benign 0.01
R2871:Plekhg5 UTSW 4 152107503 missense probably benign 0.01
R2871:Plekhg5 UTSW 4 152107503 missense probably benign 0.01
R2872:Plekhg5 UTSW 4 152107503 missense probably benign 0.01
R2872:Plekhg5 UTSW 4 152107503 missense probably benign 0.01
R2873:Plekhg5 UTSW 4 152107503 missense probably benign 0.01
R3104:Plekhg5 UTSW 4 152112178 missense probably damaging 1.00
R3106:Plekhg5 UTSW 4 152112178 missense probably damaging 1.00
R3408:Plekhg5 UTSW 4 152108292 missense probably damaging 1.00
R4289:Plekhg5 UTSW 4 152112427 missense probably benign 0.05
R5157:Plekhg5 UTSW 4 152107865 splice site probably benign
R5643:Plekhg5 UTSW 4 152104340 missense probably benign 0.14
R5644:Plekhg5 UTSW 4 152104340 missense probably benign 0.14
R5790:Plekhg5 UTSW 4 152113935 missense probably benign
R6770:Plekhg5 UTSW 4 152103079 missense probably benign
R7027:Plekhg5 UTSW 4 152113974 missense probably benign 0.01
R7039:Plekhg5 UTSW 4 152107785 missense possibly damaging 0.90
R7092:Plekhg5 UTSW 4 152114508 missense probably damaging 1.00
R7309:Plekhg5 UTSW 4 152112528 missense possibly damaging 0.50
R7319:Plekhg5 UTSW 4 152108428 missense probably benign 0.13
R7439:Plekhg5 UTSW 4 152113935 missense probably benign 0.19
R7543:Plekhg5 UTSW 4 152108034 missense probably damaging 1.00
R7662:Plekhg5 UTSW 4 152104298 missense probably damaging 1.00
R8271:Plekhg5 UTSW 4 152103007 missense probably damaging 1.00
R8322:Plekhg5 UTSW 4 152104744 missense possibly damaging 0.77
Posted On2013-06-21