Incidental Mutation 'R8054:Plekhg2'
ID 619255
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 067491-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.324) question?
Stock # R8054 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 28059029-28072024 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 28064741 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 407 (F407S)
Ref Sequence ENSEMBL: ENSMUSP00000092228 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094644] [ENSMUST00000119990] [ENSMUST00000121085] [ENSMUST00000144700] [ENSMUST00000147362] [ENSMUST00000152281]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000094644
AA Change: F407S

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000092228
Gene: ENSMUSG00000037552
AA Change: F407S

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 possibly damaging
Transcript: ENSMUST00000119990
AA Change: F406S

PolyPhen 2 Score 0.720 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000112881
Gene: ENSMUSG00000037552
AA Change: F406S

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: F406S

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113449
Gene: ENSMUSG00000037552
AA Change: F406S

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 possibly damaging
Transcript: ENSMUST00000144700
AA Change: F406S

PolyPhen 2 Score 0.720 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000115651
Gene: ENSMUSG00000037552
AA Change: F406S

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 probably benign
Transcript: ENSMUST00000147362
SMART Domains Protein: ENSMUSP00000118217
Gene: ENSMUSG00000037552

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
Pfam:RhoGEF 103 205 3.1e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152281
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (75/75)
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b A G 5: 8,874,272 (GRCm39) N399S probably benign Het
Akap9 T C 5: 4,088,707 (GRCm39) probably null Het
Ankrd17 A G 5: 90,438,914 (GRCm39) I483T probably benign Het
Arl13b T C 16: 62,626,960 (GRCm39) D247G probably benign Het
Brca2 A G 5: 150,459,969 (GRCm39) I415V probably benign Het
Brpf3 C A 17: 29,055,571 (GRCm39) S1173R probably damaging Het
Cby2 A G 14: 75,821,339 (GRCm39) Y129H probably benign Het
Ccar1 A G 10: 62,583,215 (GRCm39) L966P unknown Het
Cfap61 A G 2: 145,815,438 (GRCm39) N249S probably damaging Het
Clip4 T A 17: 72,141,268 (GRCm39) Y541N possibly damaging Het
Csn2 C T 5: 87,845,886 (GRCm39) probably null Het
Cyp2c23 T G 19: 43,995,555 (GRCm39) E404A probably damaging Het
Cyp2e1 A G 7: 140,350,871 (GRCm39) E281G possibly damaging Het
Cyp2r1 T A 7: 114,151,319 (GRCm39) probably null Het
D430041D05Rik T A 2: 103,985,390 (GRCm39) I1226F possibly damaging Het
Dbx1 A T 7: 49,282,498 (GRCm39) W236R probably damaging Het
Dcp2 T G 18: 44,538,774 (GRCm39) N251K probably benign Het
Disp1 A T 1: 182,869,812 (GRCm39) Y869* probably null Het
Dnajc8 T A 4: 132,272,068 (GRCm39) probably benign Het
Efcab3 A G 11: 104,621,226 (GRCm39) N822D probably benign Het
Ehhadh A G 16: 21,592,243 (GRCm39) probably null Het
Eml3 A T 19: 8,916,414 (GRCm39) T670S possibly damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fbn1 A T 2: 125,187,938 (GRCm39) D1530E possibly damaging Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Hsd3b3 A T 3: 98,649,331 (GRCm39) Y331N probably damaging Het
Ino80d T C 1: 63,097,837 (GRCm39) R791G possibly damaging Het
Itprid1 A T 6: 55,953,424 (GRCm39) K913N probably damaging Het
Jade2 T C 11: 51,709,441 (GRCm39) R523G probably benign Het
Kmt2d A T 15: 98,741,806 (GRCm39) D4451E unknown Het
Lax1 T C 1: 133,611,345 (GRCm39) T76A probably benign Het
Map4k1 A G 7: 28,689,181 (GRCm39) probably benign Het
Mcu G A 10: 59,290,817 (GRCm39) T121M probably damaging Het
Mepce T A 5: 137,783,004 (GRCm39) K441* probably null Het
Mettl21e C A 1: 44,245,815 (GRCm39) V144F probably damaging Het
Muc6 T A 7: 141,231,748 (GRCm39) S1049C probably damaging Het
Myh14 C T 7: 44,274,551 (GRCm39) V1246M probably damaging Het
Myo3a A T 2: 22,464,329 (GRCm39) Q1128L probably benign Het
Nat8f2 T C 6: 85,844,754 (GRCm39) S203G probably benign Het
Npas2 A G 1: 39,326,652 (GRCm39) T46A possibly damaging Het
Nup133 T C 8: 124,675,956 (GRCm39) probably benign Het
Oplah C T 15: 76,190,457 (GRCm39) R102H probably benign Het
Or1x6 T A 11: 50,939,090 (GRCm39) I52N probably benign Het
Or2b6 A T 13: 21,823,119 (GRCm39) D191E probably benign Het
Or5g29 A T 2: 85,421,184 (GRCm39) Q100L probably damaging Het
Or6d13 A G 6: 116,517,960 (GRCm39) H182R probably damaging Het
Or8g20 C A 9: 39,396,033 (GRCm39) C172F probably damaging Het
Osgep C T 14: 51,162,128 (GRCm39) probably benign Het
Pam A T 1: 97,768,114 (GRCm39) D705E probably damaging Het
Pkd1l3 C G 8: 110,373,008 (GRCm39) N1284K probably damaging Het
Pygl A G 12: 70,274,113 (GRCm39) probably null Het
Rcc2 G A 4: 140,429,586 (GRCm39) C40Y probably benign Het
Rhobtb1 A G 10: 69,084,720 (GRCm39) N37S probably damaging Het
Sema6a T A 18: 47,424,972 (GRCm39) D213V probably damaging Het
Skint11 A T 4: 114,101,806 (GRCm39) Q273L possibly damaging Het
Skint7 A T 4: 111,839,426 (GRCm39) H240L probably benign Het
Slc12a2 C T 18: 58,054,944 (GRCm39) Q862* probably null Het
Smox A G 2: 131,364,100 (GRCm39) S468G probably benign Het
Spc25 A G 2: 69,035,257 (GRCm39) S50P probably damaging Het
Srrm1 A T 4: 135,052,326 (GRCm39) S683T unknown Het
Syne1 T C 10: 5,220,970 (GRCm39) E3103G probably benign Het
Tenm4 C A 7: 96,378,553 (GRCm39) probably benign Het
Tent4b T A 8: 88,974,186 (GRCm39) I294N probably damaging Het
Tmem123 T C 9: 7,791,064 (GRCm39) S122P possibly damaging Het
Trav18 A T 14: 54,068,572 (GRCm39) K4I probably benign Het
Triml1 T C 8: 43,583,420 (GRCm39) S394G probably damaging Het
Ubr4 A T 4: 139,195,413 (GRCm39) S1212C unknown Het
Usp34 G A 11: 23,311,295 (GRCm39) R442Q Het
Usp43 G A 11: 67,782,284 (GRCm39) P378L probably damaging Het
Vmn1r212 A G 13: 23,067,935 (GRCm39) F133L probably benign Het
Vmn1r213 A G 13: 23,195,910 (GRCm39) I164M possibly damaging Het
Vmn2r19 C T 6: 123,292,998 (GRCm39) P347S probably damaging Het
Zfp106 A T 2: 120,355,000 (GRCm39) V1280E possibly damaging Het
Zfp317 T C 9: 19,553,265 (GRCm39) S13P probably benign Het
Zfp608 C A 18: 55,032,618 (GRCm39) A441S probably benign Het
Zup1 T C 10: 33,816,248 (GRCm39) D232G 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
R5378: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
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'- TCGTGCTGGATTCCAAAGC -3'
(R):5'- CCTCAGTGCTGTAACCTCAG -3'

Sequencing Primer
(F):5'- TGGATTCCAAAGCCAGAAAGC -3'
(R):5'- CGGGACCCCTTAGGATTTAAG -3'
Posted On 2020-01-23