Incidental Mutation 'R5378:Plekhg2'
ID 425690
Institutional Source Beutler Lab
Gene Symbol Plekhg2
Ensembl Gene ENSMUSG00000037552
Gene Name pleckstrin homology domain containing, family G (with RhoGef domain) member 2
Synonyms Clg
MMRRC Submission 042953-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.324) question?
Stock # R5378 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 28059029-28072024 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 28062094 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 594 (R594W)
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 damaging
Transcript: ENSMUST00000094644
AA Change: R570W

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000092228
Gene: ENSMUSG00000037552
AA Change: R570W

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 damaging
Transcript: ENSMUST00000119990
AA Change: R569W

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112881
Gene: ENSMUSG00000037552
AA Change: R569W

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 damaging
Transcript: ENSMUST00000121085
AA Change: R594W

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113449
Gene: ENSMUSG00000037552
AA Change: R594W

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 damaging
Transcript: ENSMUST00000144700
AA Change: R569W

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000115651
Gene: ENSMUSG00000037552
AA Change: R569W

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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat T A 16: 8,396,141 (GRCm39) F39L probably benign Het
Abca2 T G 2: 25,336,080 (GRCm39) L2150R probably damaging Het
Apob T A 12: 8,061,865 (GRCm39) V3449D probably damaging Het
Arfgef2 T A 2: 166,715,548 (GRCm39) V1331D probably damaging Het
Bora A G 14: 99,305,929 (GRCm39) N433D probably damaging Het
Cand2 G A 6: 115,778,912 (GRCm39) A1159T probably benign Het
Ccser1 C T 6: 61,288,650 (GRCm39) A271V probably benign Het
Ccser2 G A 14: 36,601,391 (GRCm39) T331I possibly damaging Het
Cemip A G 7: 83,607,733 (GRCm39) S758P probably damaging Het
Cenpf C T 1: 189,385,663 (GRCm39) V2206I possibly damaging Het
Chrnb1 A T 11: 69,676,007 (GRCm39) S412T probably benign Het
Cks1b A C 3: 89,323,608 (GRCm39) W54G probably damaging Het
Col5a3 C T 9: 20,708,872 (GRCm39) V630M unknown Het
Dnajb14 A G 3: 137,591,139 (GRCm39) D30G probably benign Het
Dpp8 T C 9: 64,985,296 (GRCm39) Y785H probably damaging Het
Dsel T A 1: 111,790,551 (GRCm39) probably benign Het
Dzip1 C T 14: 119,148,805 (GRCm39) M291I probably damaging Het
Esp8 G A 17: 40,841,033 (GRCm39) C98Y unknown Het
F11 C A 8: 45,705,180 (GRCm39) M120I probably benign Het
Fsip2 T C 2: 82,820,185 (GRCm39) F5306S possibly damaging Het
Gm4841 T C 18: 60,404,113 (GRCm39) probably null Het
Gpr180 T A 14: 118,377,251 (GRCm39) L84Q probably benign Het
Grwd1 A T 7: 45,479,505 (GRCm39) D123E probably benign Het
Hsfy2 T C 1: 56,675,827 (GRCm39) R237G probably benign Het
Htr5a A G 5: 28,055,993 (GRCm39) Y328C probably damaging Het
Klrb1f G A 6: 129,030,794 (GRCm39) A127T probably damaging Het
Mcpt4 A T 14: 56,299,750 (GRCm39) probably null Het
Muc5b T C 7: 141,415,940 (GRCm39) V2962A unknown Het
Or52s19 T A 7: 103,007,652 (GRCm39) I250F probably damaging Het
Or5t15 A T 2: 86,681,807 (GRCm39) N78K probably benign Het
Otog A T 7: 45,904,428 (GRCm39) T518S probably damaging Het
Phgdh A T 3: 98,228,639 (GRCm39) probably null Het
Pip5kl1 A T 2: 32,469,106 (GRCm39) T213S probably benign Het
Prg4 T A 1: 150,330,977 (GRCm39) probably benign Het
Prpf40a T A 2: 53,035,888 (GRCm39) D621V probably damaging Het
Ptgr3 G A 18: 84,112,803 (GRCm39) A160T probably damaging Het
Ptprz1 A T 6: 23,007,401 (GRCm39) I1655F probably damaging Het
Rbm28 T C 6: 29,128,558 (GRCm39) K55E probably damaging Het
Rbm43 A T 2: 51,815,633 (GRCm39) V196E probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Serinc4 T A 2: 121,282,861 (GRCm39) M434L possibly damaging Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Slc35f1 A T 10: 52,567,157 (GRCm39) H22L possibly damaging Het
Smg6 A G 11: 74,932,820 (GRCm39) D98G possibly damaging Het
Strbp A G 2: 37,489,186 (GRCm39) Y527H probably damaging Het
Strbp A G 2: 37,490,818 (GRCm39) V479A probably benign Het
Tdg G T 10: 82,477,305 (GRCm39) V119L probably benign Het
Trav10d G A 14: 53,048,825 (GRCm39) R72H probably benign Het
Trgc2 T C 13: 19,489,297 (GRCm39) Y145C unknown Het
Trim25 T C 11: 88,900,093 (GRCm39) L280P probably damaging Het
Tsc22d4 A G 5: 137,760,726 (GRCm39) D49G probably damaging Het
Ttn T C 2: 76,720,534 (GRCm39) probably benign Het
Tyr T A 7: 87,121,703 (GRCm39) H363L probably damaging Het
Ubr5 A G 15: 37,989,822 (GRCm39) S2020P probably damaging Het
Usp9y T C Y: 1,315,928 (GRCm39) D2069G probably damaging Het
Vmn1r170 T C 7: 23,305,963 (GRCm39) W122R probably benign Het
Wdr7 G A 18: 63,958,310 (GRCm39) probably null Het
Ylpm1 T A 12: 85,077,029 (GRCm39) H793Q probably damaging Het
Zfp266 G A 9: 20,410,659 (GRCm39) T506I probably damaging Het
Zfp518a T C 19: 40,904,300 (GRCm39) S1410P probably damaging Het
Other mutations in Plekhg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00815:Plekhg2 APN 7 28,060,294 (GRCm39) nonsense probably null
IGL00933:Plekhg2 APN 7 28,060,114 (GRCm39) missense probably benign 0.01
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
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
Predicted Primers PCR Primer
(F):5'- TGTCAGTAAGGCTGGGAATGC -3'
(R):5'- CGGGGACTTCCATAACTGAG -3'

Sequencing Primer
(F):5'- ATGCAGGGAATTTCAGCTGC -3'
(R):5'- GGACTTCCATAACTGAGGAGATCC -3'
Posted On 2016-08-04