Incidental Mutation 'R3106:Plekhg5'
ID 263046
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 040580-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.167) question?
Stock # R3106 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 152156955-152199857 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 152196635 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 694 (T694M)
Ref Sequence ENSEMBL: ENSMUSP00000101286 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025706] [ENSMUST00000035275] [ENSMUST00000084115] [ENSMUST00000105661] [ENSMUST00000105662] [ENSMUST00000118648]
AlphaFold Q66T02
Predicted Effect probably benign
Transcript: ENSMUST00000025706
SMART Domains Protein: ENSMUSP00000025706
Gene: ENSMUSG00000024793

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
TNFR 38 75 4.12e0 SMART
TNFR 78 120 3.78e-5 SMART
transmembrane domain 196 218 N/A INTRINSIC
DEATH 315 407 6.04e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000035275
SMART Domains Protein: ENSMUSP00000047823
Gene: ENSMUSG00000024793

DomainStartEndE-ValueType
signal peptide 1 43 N/A INTRINSIC
TNFR 51 88 4.12e0 SMART
TNFR 91 133 3.78e-5 SMART
transmembrane domain 172 194 N/A INTRINSIC
DEATH 291 383 6.04e-22 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000084115
AA Change: T694M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000081132
Gene: ENSMUSG00000039713
AA Change: T694M

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: T694M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101286
Gene: ENSMUSG00000039713
AA Change: T694M

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: T662M

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101287
Gene: ENSMUSG00000039713
AA Change: T662M

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: T681M

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112707
Gene: ENSMUSG00000039713
AA Change: T681M

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: ENSMUST00000140085
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127111
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142412
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 100% (53/53)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A T 7: 119,995,856 (GRCm39) E1331V possibly damaging Het
Adam22 A G 5: 8,167,583 (GRCm39) probably null Het
Adamts17 T A 7: 66,774,820 (GRCm39) S980T probably damaging Het
Adarb1 C A 10: 77,157,591 (GRCm39) K285N probably damaging Het
Atp5f1c A G 2: 10,068,276 (GRCm39) S160P probably benign Het
Baz2a AGCGGCGGTACTTGCGGG AG 10: 127,960,946 (GRCm39) probably null Het
Btf3 T G 13: 98,447,496 (GRCm39) E145D probably benign Het
Ccdc184 G T 15: 98,066,482 (GRCm39) A96S probably damaging Het
Ccdc191 T C 16: 43,751,573 (GRCm39) F301S probably damaging Het
Ceacam5 T C 7: 17,481,248 (GRCm39) Y332H probably benign Het
Clip2 T C 5: 134,551,918 (GRCm39) K68R probably benign Het
Cntln C T 4: 84,875,406 (GRCm39) T280M possibly damaging Het
Col6a3 T C 1: 90,744,024 (GRCm39) R515G probably damaging Het
Ctnnal1 G A 4: 56,813,246 (GRCm39) L662F probably benign Het
Dennd3 C A 15: 73,436,973 (GRCm39) S118* probably null Het
Dgkg T A 16: 22,394,091 (GRCm39) T321S probably damaging Het
Dzip1l A T 9: 99,524,625 (GRCm39) K249* probably null Het
Dzip1l A G 9: 99,529,174 (GRCm39) E301G probably benign Het
Emc10 G A 7: 44,142,616 (GRCm39) R109W probably damaging Het
Ezh1 A C 11: 101,086,468 (GRCm39) C575W probably damaging Het
Fam187b A G 7: 30,676,665 (GRCm39) D58G probably benign Het
Galnt4 T C 10: 98,945,243 (GRCm39) Y323H probably benign Het
Grm1 A G 10: 10,955,601 (GRCm39) S228P probably benign Het
H1f2 G T 13: 23,922,883 (GRCm39) A18S unknown Het
Hnf4g T G 3: 3,717,916 (GRCm39) S388R probably benign Het
Il1rap A G 16: 26,541,502 (GRCm39) E581G probably benign Het
Lemd2 C A 17: 27,420,644 (GRCm39) L256F probably damaging Het
Mnd1 C A 3: 84,041,416 (GRCm39) C62F probably benign Het
Nphs1 C A 7: 30,166,965 (GRCm39) S724* probably null Het
Or4g17 A G 2: 111,209,840 (GRCm39) N165S probably benign Het
Or5w13 T C 2: 87,523,849 (GRCm39) I126V probably damaging Het
Osgep T C 14: 51,154,286 (GRCm39) T225A probably benign Het
Pan3 T C 5: 147,476,189 (GRCm39) probably benign Het
Pld3 A G 7: 27,235,212 (GRCm39) probably null Het
Plekha7 C T 7: 115,763,639 (GRCm39) R321K probably benign Het
Pramel31 T C 4: 144,088,246 (GRCm39) V14A probably benign Het
Ptpn20 A G 14: 33,334,253 (GRCm39) I44V probably benign Het
Ptprj T A 2: 90,270,975 (GRCm39) H1251L probably damaging Het
Sbspon T C 1: 15,962,806 (GRCm39) E24G probably benign Het
Sfmbt1 G A 14: 30,539,753 (GRCm39) C847Y probably damaging Het
Sparcl1 T C 5: 104,241,203 (GRCm39) T74A probably benign Het
Sppl2b A G 10: 80,703,325 (GRCm39) E529G probably benign Het
Stradb C A 1: 59,031,450 (GRCm39) H212Q possibly damaging Het
Tkfc G T 19: 10,574,357 (GRCm39) C198* probably null Het
Tm4sf4 C T 3: 57,345,043 (GRCm39) R150C possibly damaging Het
Tmem212 T C 3: 27,939,019 (GRCm39) S156G probably damaging Het
Tmem51 T C 4: 141,765,035 (GRCm39) N8D probably damaging Het
Tmigd1 A G 11: 76,801,124 (GRCm39) T204A possibly damaging Het
Trp53bp1 A G 2: 121,067,133 (GRCm39) L531S probably damaging Het
Tsga10 G A 1: 37,840,872 (GRCm39) L445F probably damaging Het
Urb1 C T 16: 90,592,331 (GRCm39) V310I probably damaging Het
Vmn2r129 T A 4: 156,685,730 (GRCm39) noncoding transcript Het
Wdr19 T C 5: 65,359,966 (GRCm39) S24P 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
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
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'- TAACTCTGGCTCCATGGCAC -3'
(R):5'- AGCACTGTGGAATTCATTCAGG -3'

Sequencing Primer
(F):5'- CGTCTGAAGTCAGCTACAGTGTAC -3'
(R):5'- CACTGTGGAATTCATTCAGGTAGATG -3'
Posted On 2015-02-05