Incidental Mutation 'R0555:Plekhg5'
ID 45452
Institutional Source Beutler Lab
Gene Symbol Plekhg5
Ensembl Gene ENSMUSG00000039713
Gene Name pleckstrin homology domain containing, family G (with RhoGef domain) member 5
Synonyms
MMRRC Submission 038747-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.167) question?
Stock # R0555 (G1)
Quality Score 183
Status Validated
Chromosome 4
Chromosomal Location 152156955-152199857 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 152191926 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 421 (C421*)
Ref Sequence ENSEMBL: ENSMUSP00000112707 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084115] [ENSMUST00000105661] [ENSMUST00000105662] [ENSMUST00000118648]
AlphaFold Q66T02
Predicted Effect probably null
Transcript: ENSMUST00000084115
AA Change: C434*
SMART Domains Protein: ENSMUSP00000081132
Gene: ENSMUSG00000039713
AA Change: C434*

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 null
Transcript: ENSMUST00000105661
AA Change: C434*
SMART Domains Protein: ENSMUSP00000101286
Gene: ENSMUSG00000039713
AA Change: C434*

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 null
Transcript: ENSMUST00000105662
AA Change: C402*
SMART Domains Protein: ENSMUSP00000101287
Gene: ENSMUSG00000039713
AA Change: C402*

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 null
Transcript: ENSMUST00000118648
AA Change: C421*
SMART Domains Protein: ENSMUSP00000112707
Gene: ENSMUSG00000039713
AA Change: C421*

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 96.9%
  • 20x: 93.8%
Validation Efficiency 100% (98/98)
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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam10 T A 9: 70,661,516 (GRCm39) I363N probably damaging Het
Ahcyl2 T C 6: 29,890,670 (GRCm39) probably benign Het
Asap1 A G 15: 63,966,213 (GRCm39) L941P probably damaging Het
Aurka G A 2: 172,209,067 (GRCm39) R23C probably benign Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Casp8ap2 T A 4: 32,640,381 (GRCm39) H478Q probably damaging Het
Clcn4 C T 7: 7,293,503 (GRCm39) A418T possibly damaging Het
Cplx3 T C 9: 57,521,384 (GRCm39) T193A probably benign Het
Cpxm2 A T 7: 131,645,772 (GRCm39) Y715* probably null Het
Csmd1 T C 8: 16,235,287 (GRCm39) M1179V probably benign Het
Ddx21 A T 10: 62,423,307 (GRCm39) F632I probably damaging Het
Dnai1 C A 4: 41,625,335 (GRCm39) T433K possibly damaging Het
Dpyd G A 3: 119,225,191 (GRCm39) G988D probably damaging Het
Dync1i2 AAAAGAAGAGGAAAGAAGAGGAAAG AAAAGAAGAGGAAAG 2: 71,044,862 (GRCm39) probably null Het
Dync1li2 A T 8: 105,147,297 (GRCm39) S466T probably benign Het
Ears2 T C 7: 121,647,667 (GRCm39) T206A probably benign Het
Elmod1 A T 9: 53,838,876 (GRCm39) probably benign Het
Eps8l3 C A 3: 107,799,661 (GRCm39) D590E probably benign Het
Etfdh A T 3: 79,513,112 (GRCm39) H370Q probably benign Het
Fam83g C A 11: 61,598,489 (GRCm39) A792E probably benign Het
Ffar3 G T 7: 30,554,962 (GRCm39) Y119* probably null Het
Fosb G T 7: 19,041,138 (GRCm39) S118R possibly damaging Het
Foxn4 G A 5: 114,401,175 (GRCm39) L3F probably damaging Het
Foxo4 A G X: 100,298,784 (GRCm39) K65E probably damaging Het
Frem2 A G 3: 53,424,281 (GRCm39) L3052P probably damaging Het
Fubp3 G A 2: 31,498,149 (GRCm39) R101H probably damaging Het
Gba2 C A 4: 43,569,927 (GRCm39) G429C probably damaging Het
Gimap1 T C 6: 48,718,363 (GRCm39) probably benign Het
Gnas A G 2: 174,140,304 (GRCm39) T158A possibly damaging Het
Gpc5 T C 14: 115,789,740 (GRCm39) V538A probably damaging Het
Greb1l T C 18: 10,458,781 (GRCm39) probably benign Het
H2-M10.5 G A 17: 37,085,620 (GRCm39) G260R probably damaging Het
Hbs1l A C 10: 21,225,222 (GRCm39) Q412H probably benign Het
Hecw1 G T 13: 14,411,526 (GRCm39) T1058N probably damaging Het
Heph A T X: 95,601,690 (GRCm39) T1027S probably damaging Het
Hoga1 A C 19: 42,034,514 (GRCm39) E53A possibly damaging Het
Insrr T G 3: 87,721,744 (GRCm39) probably benign Het
Ipo11 A T 13: 107,028,969 (GRCm39) V328D probably damaging Het
Jakmip1 T C 5: 37,276,217 (GRCm39) V509A probably damaging Het
Jmjd1c T C 10: 67,061,568 (GRCm39) V1307A probably benign Het
Kmt2a T A 9: 44,758,868 (GRCm39) S1027C probably damaging Het
Kprp G C 3: 92,731,664 (GRCm39) P462R unknown Het
Lrit3 A T 3: 129,584,945 (GRCm39) V271D probably damaging Het
Map4 T A 9: 109,808,171 (GRCm39) probably benign Het
Mark4 A C 7: 19,182,598 (GRCm39) probably benign Het
Mfsd14b A G 13: 65,226,259 (GRCm39) V142A probably benign Het
Mis18bp1 A T 12: 65,208,227 (GRCm39) I162N possibly damaging Het
Mrpl43 A T 19: 44,994,391 (GRCm39) probably benign Het
Mrpl47 A G 3: 32,790,842 (GRCm39) F16S probably benign Het
Myh2 G T 11: 67,069,793 (GRCm39) G380C probably damaging Het
Myo15a T C 11: 60,412,464 (GRCm39) Y3284H probably damaging Het
Nectin2 A G 7: 19,467,148 (GRCm39) probably benign Het
Neu3 A G 7: 99,463,390 (GRCm39) V111A probably damaging Het
Nol4l T C 2: 153,259,604 (GRCm39) probably null Het
Nphp3 C A 9: 103,900,633 (GRCm39) H510Q probably damaging Het
Nprl3 T A 11: 32,183,118 (GRCm39) probably null Het
Or14c39 A G 7: 86,344,516 (GRCm39) N284S probably damaging Het
Or4c58 T C 2: 89,674,787 (GRCm39) T177A probably benign Het
Or52ab7 T C 7: 102,978,170 (GRCm39) V159A probably benign Het
Or6c2 T C 10: 129,362,765 (GRCm39) I223T possibly damaging Het
Pex1 A G 5: 3,656,130 (GRCm39) E319G possibly damaging Het
Pgap6 T C 17: 26,336,088 (GRCm39) L130S probably benign Het
Phtf1 C A 3: 103,911,785 (GRCm39) T709K probably damaging Het
Plek2 A T 12: 78,938,946 (GRCm39) L271Q probably damaging Het
Polk A C 13: 96,620,687 (GRCm39) C525W probably damaging Het
Ppfibp2 T C 7: 107,328,381 (GRCm39) S471P probably damaging Het
Prickle2 A T 6: 92,435,546 (GRCm39) F74L probably benign Het
Prl7d1 A T 13: 27,896,038 (GRCm39) V113D probably benign Het
Prr14 C T 7: 127,071,267 (GRCm39) probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Ret A G 6: 118,155,571 (GRCm39) V375A probably damaging Het
Rora T C 9: 69,269,028 (GRCm39) F41S probably damaging Het
Sall1 T C 8: 89,758,386 (GRCm39) T573A probably benign Het
Shb A G 4: 45,458,321 (GRCm39) V281A possibly damaging Het
Slc25a26 A T 6: 94,569,391 (GRCm39) probably null Het
Sltm T C 9: 70,493,363 (GRCm39) F769L probably damaging Het
Snx9 T A 17: 5,968,688 (GRCm39) M328K probably damaging Het
Stk25 G T 1: 93,552,313 (GRCm39) Q356K probably benign Het
Svep1 T A 4: 58,128,858 (GRCm39) Y613F possibly damaging Het
Syne4 G A 7: 30,016,169 (GRCm39) A195T probably damaging Het
Tmem217b A T 17: 29,738,545 (GRCm39) F74I probably benign Het
Trcg1 C T 9: 57,149,616 (GRCm39) T396M probably damaging Het
Trim30b A G 7: 104,006,505 (GRCm39) V117A possibly damaging Het
Trpc4 T C 3: 54,209,511 (GRCm39) probably benign Het
Ttll4 A G 1: 74,727,439 (GRCm39) H827R probably damaging Het
Tut7 A G 13: 59,948,131 (GRCm39) V328A probably benign Het
Urgcp T C 11: 5,667,477 (GRCm39) E287G probably damaging Het
Usp2 G T 9: 44,004,081 (GRCm39) L319F probably damaging Het
Vmn1r167 A T 7: 23,204,512 (GRCm39) V168D probably damaging Het
Vmn2r100 C A 17: 19,742,382 (GRCm39) P252Q possibly damaging Het
Vmn2r61 A T 7: 41,915,442 (GRCm39) I130F probably benign Het
Vmn2r63 A T 7: 42,577,952 (GRCm39) Y195* probably null Het
Vmn2r81 T C 10: 79,129,283 (GRCm39) S725P probably damaging Het
Wnt10b A G 15: 98,670,818 (GRCm39) probably benign Het
Zfp292 T C 4: 34,807,194 (GRCm39) E1950G probably damaging Het
Zfyve16 A G 13: 92,653,028 (GRCm39) probably benign Het
Other mutations in Plekhg5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Plekhg5 APN 4 152,186,498 (GRCm39) splice site probably null
IGL01025:Plekhg5 APN 4 152,192,983 (GRCm39) missense probably damaging 1.00
IGL01062:Plekhg5 APN 4 152,192,953 (GRCm39) missense probably damaging 1.00
IGL01138:Plekhg5 APN 4 152,191,435 (GRCm39) missense probably damaging 1.00
IGL01301:Plekhg5 APN 4 152,197,010 (GRCm39) missense probably benign
IGL02372:Plekhg5 APN 4 152,186,537 (GRCm39) missense probably damaging 0.96
IGL02701:Plekhg5 APN 4 152,187,479 (GRCm39) missense probably damaging 1.00
ANU18:Plekhg5 UTSW 4 152,197,010 (GRCm39) missense probably benign
R0005:Plekhg5 UTSW 4 152,197,108 (GRCm39) small deletion probably benign
R0012:Plekhg5 UTSW 4 152,189,207 (GRCm39) missense probably benign 0.20
R0050:Plekhg5 UTSW 4 152,192,545 (GRCm39) critical splice donor site probably null
R0233:Plekhg5 UTSW 4 152,196,676 (GRCm39) missense probably damaging 1.00
R0233:Plekhg5 UTSW 4 152,196,676 (GRCm39) missense probably damaging 1.00
R0234:Plekhg5 UTSW 4 152,196,676 (GRCm39) missense probably damaging 1.00
R0346:Plekhg5 UTSW 4 152,198,710 (GRCm39) missense probably benign 0.08
R0631:Plekhg5 UTSW 4 152,196,876 (GRCm39) missense possibly damaging 0.89
R0639:Plekhg5 UTSW 4 152,198,577 (GRCm39) missense probably benign 0.19
R1372:Plekhg5 UTSW 4 152,189,188 (GRCm39) missense probably damaging 0.99
R1563:Plekhg5 UTSW 4 152,181,266 (GRCm39) missense probably benign 0.33
R2870:Plekhg5 UTSW 4 152,191,960 (GRCm39) missense probably benign 0.01
R2870:Plekhg5 UTSW 4 152,191,960 (GRCm39) missense probably benign 0.01
R2871:Plekhg5 UTSW 4 152,191,960 (GRCm39) missense probably benign 0.01
R2871:Plekhg5 UTSW 4 152,191,960 (GRCm39) missense probably benign 0.01
R2872:Plekhg5 UTSW 4 152,191,960 (GRCm39) missense probably benign 0.01
R2872:Plekhg5 UTSW 4 152,191,960 (GRCm39) missense probably benign 0.01
R2873:Plekhg5 UTSW 4 152,191,960 (GRCm39) missense probably benign 0.01
R3104:Plekhg5 UTSW 4 152,196,635 (GRCm39) missense probably damaging 1.00
R3106:Plekhg5 UTSW 4 152,196,635 (GRCm39) missense probably damaging 1.00
R3408:Plekhg5 UTSW 4 152,192,749 (GRCm39) missense probably damaging 1.00
R4289:Plekhg5 UTSW 4 152,196,884 (GRCm39) missense probably benign 0.05
R5157:Plekhg5 UTSW 4 152,192,322 (GRCm39) splice site probably benign
R5643:Plekhg5 UTSW 4 152,188,797 (GRCm39) missense probably benign 0.14
R5644:Plekhg5 UTSW 4 152,188,797 (GRCm39) missense probably benign 0.14
R5790:Plekhg5 UTSW 4 152,198,392 (GRCm39) missense probably benign
R6770:Plekhg5 UTSW 4 152,187,536 (GRCm39) missense probably benign
R7027:Plekhg5 UTSW 4 152,198,431 (GRCm39) missense probably benign 0.01
R7039:Plekhg5 UTSW 4 152,192,242 (GRCm39) missense possibly damaging 0.90
R7092:Plekhg5 UTSW 4 152,198,965 (GRCm39) missense probably damaging 1.00
R7309:Plekhg5 UTSW 4 152,196,985 (GRCm39) missense possibly damaging 0.50
R7319:Plekhg5 UTSW 4 152,192,885 (GRCm39) missense probably benign 0.13
R7439:Plekhg5 UTSW 4 152,198,392 (GRCm39) missense probably benign 0.19
R7543:Plekhg5 UTSW 4 152,192,491 (GRCm39) missense probably damaging 1.00
R7662:Plekhg5 UTSW 4 152,188,755 (GRCm39) missense probably damaging 1.00
R8271:Plekhg5 UTSW 4 152,187,464 (GRCm39) missense probably damaging 1.00
R8322:Plekhg5 UTSW 4 152,189,201 (GRCm39) missense possibly damaging 0.77
R8827:Plekhg5 UTSW 4 152,191,462 (GRCm39) splice site probably benign
R8987:Plekhg5 UTSW 4 152,188,372 (GRCm39) intron probably benign
R9024:Plekhg5 UTSW 4 152,197,118 (GRCm39) missense possibly damaging 0.71
R9428:Plekhg5 UTSW 4 152,192,780 (GRCm39) missense probably benign 0.00
R9515:Plekhg5 UTSW 4 152,198,826 (GRCm39) missense probably benign 0.09
R9672:Plekhg5 UTSW 4 152,187,541 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- CCTTCTGATGGAACAAGTCAGCCTC -3'
(R):5'- GTGTAGCTTGGCGATCTCAGGAATG -3'

Sequencing Primer
(F):5'- GGAACAAGTCAGCCTCTCTCAG -3'
(R):5'- CGATCTCAGGAATGTTGCTGAAC -3'
Posted On 2013-06-11