Incidental Mutation 'R8271:Plekhg5'
ID 637706
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 067652-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.167) question?
Stock # R8271 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 152156955-152199857 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 152187464 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 90 (N90D)
Ref Sequence ENSEMBL: ENSMUSP00000101286 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084115] [ENSMUST00000105661] [ENSMUST00000105662] [ENSMUST00000118648]
AlphaFold Q66T02
Predicted Effect probably damaging
Transcript: ENSMUST00000084115
AA Change: N90D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081132
Gene: ENSMUSG00000039713
AA Change: N90D

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: N90D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101286
Gene: ENSMUSG00000039713
AA Change: N90D

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: N58D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101287
Gene: ENSMUSG00000039713
AA Change: N58D

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: N77D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112707
Gene: ENSMUSG00000039713
AA Change: N77D

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
Meta Mutation Damage Score 0.0987 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (65/65)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A T 5: 8,736,212 (GRCm39) I202L probably benign Het
Acadsb A T 7: 131,045,423 (GRCm39) T452S unknown Het
Ago2 A T 15: 72,991,315 (GRCm39) L541Q probably damaging Het
Ap2a2 A T 7: 141,200,812 (GRCm39) E553V probably damaging Het
Astn2 T C 4: 65,910,663 (GRCm39) K442E unknown Het
Bicd1 A G 6: 149,414,633 (GRCm39) T449A probably benign Het
Btn1a1 T A 13: 23,645,919 (GRCm39) Q150L probably benign Het
C1ra G A 6: 124,499,610 (GRCm39) G599R probably damaging Het
Camta2 T A 11: 70,561,886 (GRCm39) Q1076L probably benign Het
Capza2 T A 6: 17,657,214 (GRCm39) C157S probably damaging Het
Ccnk A G 12: 108,162,114 (GRCm39) probably benign Het
Chd3 T A 11: 69,251,483 (GRCm39) D516V probably damaging Het
Cntnap5b A G 1: 99,999,832 (GRCm39) T197A probably benign Het
Comp A G 8: 70,829,110 (GRCm39) N260S probably damaging Het
Dcp1a A G 14: 30,244,883 (GRCm39) T570A possibly damaging Het
Ddx60 T A 8: 62,393,142 (GRCm39) probably null Het
Defb22 C T 2: 152,327,712 (GRCm39) V158I unknown Het
Diaph3 T C 14: 87,103,949 (GRCm39) S812G probably damaging Het
Dohh G T 10: 81,221,844 (GRCm39) Q79H probably benign Het
Dyrk1b T G 7: 27,882,080 (GRCm39) V147G probably benign Het
Fastkd2 C T 1: 63,787,183 (GRCm39) T539I probably benign Het
Itpr3 G A 17: 27,306,622 (GRCm39) D229N probably damaging Het
Kcnv1 A T 15: 44,972,754 (GRCm39) D376E probably benign Het
Kif13a C A 13: 46,906,057 (GRCm39) V1577F probably benign Het
L3mbtl4 G A 17: 68,793,938 (GRCm39) R314H probably damaging Het
Mcoln2 A C 3: 145,898,179 (GRCm39) N100T unknown Het
Mdh1b C T 1: 63,759,164 (GRCm39) V143M possibly damaging Het
Mfsd4b4 G T 10: 39,768,101 (GRCm39) Q377K probably benign Het
Mpv17l T C 16: 13,762,584 (GRCm39) F122S probably damaging Het
Mylk T C 16: 34,742,949 (GRCm39) S1154P probably damaging Het
Myo5b A G 18: 74,760,261 (GRCm39) Y259C probably damaging Het
Nek1 G A 8: 61,558,646 (GRCm39) V931M probably benign Het
Nkd2 C A 13: 73,969,437 (GRCm39) G343V probably damaging Het
Obox8 T A 7: 14,065,928 (GRCm39) T197S probably benign Het
Or10j5 T A 1: 172,784,744 (GRCm39) C127* probably null Het
Or13g1 G A 7: 85,955,962 (GRCm39) R120C probably benign Het
Or4b1b A G 2: 90,112,616 (GRCm39) F101S possibly damaging Het
Or5m11b T G 2: 85,806,085 (GRCm39) M166R probably benign Het
Or5m11b T C 2: 85,805,766 (GRCm39) Y60H probably damaging Het
Or5p57 A G 7: 107,664,980 (GRCm39) S342P probably damaging Het
Or5t7 T A 2: 86,507,218 (GRCm39) H153L probably benign Het
Palb2 A T 7: 121,724,097 (GRCm39) S551T probably damaging Het
Pcdha12 T A 18: 37,154,953 (GRCm39) D557E probably damaging Het
Pcdhb21 T A 18: 37,648,921 (GRCm39) D683E probably benign Het
Plekhb1 A G 7: 100,305,936 (GRCm39) probably benign Het
Pnpla1 A G 17: 29,100,579 (GRCm39) D482G probably benign Het
Rc3h1 A T 1: 160,768,329 (GRCm39) probably benign Het
Rfpl4 C T 7: 5,113,539 (GRCm39) R214H probably benign Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Setd5 T C 6: 113,092,031 (GRCm39) I284T possibly damaging Het
Smurf1 C T 5: 144,830,897 (GRCm39) E293K possibly damaging Het
Tas2r106 A T 6: 131,655,023 (GRCm39) I276N probably damaging Het
Tbc1d2 C A 4: 46,649,791 (GRCm39) A82S possibly damaging Het
Tex19.2 A G 11: 121,008,010 (GRCm39) I146T possibly damaging Het
Tmem107 T G 11: 68,962,281 (GRCm39) N79K probably damaging Het
Tpsab1 A T 17: 25,564,305 (GRCm39) S50T probably benign Het
Ttn T A 2: 76,553,594 (GRCm39) K31008* probably null Het
Ubox5 T C 2: 130,441,629 (GRCm39) T353A probably benign Het
Usp24 T A 4: 106,285,711 (GRCm39) H2445Q probably damaging Het
Uvrag T C 7: 98,537,698 (GRCm39) D499G probably benign Het
Xndc1 A T 7: 101,728,343 (GRCm39) N247I possibly damaging Het
Yipf2 A T 9: 21,501,291 (GRCm39) W226R probably damaging Het
Zfp335 T A 2: 164,739,973 (GRCm39) Q793L probably damaging Het
Zfp385c A G 11: 100,548,291 (GRCm39) S54P probably damaging Het
Zpld2 G T 4: 133,930,278 (GRCm39) T9K unknown 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
R0555:Plekhg5 UTSW 4 152,191,926 (GRCm39) nonsense probably null
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
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'- CCCCATTCTTGGCAGAAGAG -3'
(R):5'- GCACACAATGGTTAACTAGTTCAG -3'

Sequencing Primer
(F):5'- AGAAGGGCTTGAATCACTGG -3'
(R):5'- TAGTTCAGCTAGGAGTCAGCC -3'
Posted On 2020-07-28