Incidental Mutation 'R4956:Plekhg2'
ID 381578
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 042553-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.324) question?
Stock # R4956 (G1)
Quality Score 157
Status Validated
Chromosome 7
Chromosomal Location 28059029-28072024 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 28067780 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 223 (L223R)
Ref Sequence ENSEMBL: ENSMUSP00000115651 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094644] [ENSMUST00000119990] [ENSMUST00000121085] [ENSMUST00000144700] [ENSMUST00000147362] [ENSMUST00000152281] [ENSMUST00000147887]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000094644
AA Change: L224R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092228
Gene: ENSMUSG00000037552
AA Change: L224R

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: L223R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112881
Gene: ENSMUSG00000037552
AA Change: L223R

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: L223R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113449
Gene: ENSMUSG00000037552
AA Change: L223R

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 probably damaging
Transcript: ENSMUST00000144700
AA Change: L223R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115651
Gene: ENSMUSG00000037552
AA Change: L223R

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 noncoding transcript
Transcript: ENSMUST00000147767
Predicted Effect probably benign
Transcript: ENSMUST00000152281
Predicted Effect probably benign
Transcript: ENSMUST00000147887
SMART Domains Protein: ENSMUSP00000122050
Gene: ENSMUSG00000037552

DomainStartEndE-ValueType
low complexity region 34 45 N/A INTRINSIC
low complexity region 46 63 N/A INTRINSIC
Meta Mutation Damage Score 0.9524 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.1%
Validation Efficiency 96% (70/73)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik G C 1: 120,096,840 (GRCm39) probably benign Het
3110009E18Rik C T 1: 120,096,850 (GRCm39) probably benign Het
3110009E18Rik G T 1: 120,096,849 (GRCm39) probably benign Het
4930562C15Rik A G 16: 4,672,816 (GRCm39) K866E probably damaging Het
Afap1l2 T C 19: 56,931,879 (GRCm39) M49V probably benign Het
Atf7ip C T 6: 136,583,808 (GRCm39) R1280C probably damaging Het
Atp2a2 A G 5: 122,599,643 (GRCm39) F583L probably benign Het
Atxn7l3b A G 10: 112,764,501 (GRCm39) C43R probably damaging Het
Axin2 T C 11: 108,833,904 (GRCm39) V617A probably damaging Het
Bltp3a T A 17: 28,108,958 (GRCm39) probably null Het
Brd1 A T 15: 88,614,316 (GRCm39) F193Y probably damaging Het
Cdc27 T C 11: 104,420,221 (GRCm39) S141G probably damaging Het
Chst9 A T 18: 15,851,045 (GRCm39) F7Y probably damaging Het
Cpn2 T A 16: 30,079,233 (GRCm39) Q156L possibly damaging Het
Dcaf6 A T 1: 165,216,354 (GRCm39) D416E probably benign Het
Dync1h1 C A 12: 110,624,560 (GRCm39) T3700N probably damaging Het
Eif2s3y A G Y: 1,023,407 (GRCm39) T430A possibly damaging Het
Enah G A 1: 181,745,854 (GRCm39) T401I probably damaging Het
Esp38 T G 17: 40,266,053 (GRCm39) I54R probably damaging Het
Ffar4 C T 19: 38,086,028 (GRCm39) R152W probably benign Het
Flvcr1 A G 1: 190,758,383 (GRCm39) probably benign Het
Fzd9 G A 5: 135,278,796 (GRCm39) A363V probably damaging Het
Gadl1 T A 9: 115,869,987 (GRCm39) I451N probably benign Het
Hmg20a A G 9: 56,388,948 (GRCm39) T172A probably damaging Het
Ints1 G A 5: 139,742,885 (GRCm39) T1695M probably damaging Het
Ipo13 G A 4: 117,758,768 (GRCm39) A699V probably benign Het
Ipo9 A G 1: 135,331,960 (GRCm39) probably null Het
Klra17 A G 6: 129,850,279 (GRCm39) L57P probably damaging Het
Map3k8 A C 18: 4,339,530 (GRCm39) D280E probably benign Het
Mycbp2 A G 14: 103,524,675 (GRCm39) F662L probably damaging Het
Ncor1 T A 11: 62,231,431 (GRCm39) H792L probably damaging Het
Nlrx1 T A 9: 44,173,909 (GRCm39) K431* probably null Het
Nos1 A G 5: 118,085,575 (GRCm39) N1301S probably benign Het
Obp2b A G 2: 25,627,087 (GRCm39) T7A probably damaging Het
Odc1 T C 12: 17,597,958 (GRCm39) I95T probably damaging Het
Or2t43 A G 11: 58,457,344 (GRCm39) Y276H probably damaging Het
Or4c127 G A 2: 89,833,187 (GRCm39) V146M probably benign Het
Or5b97 C T 19: 12,878,963 (GRCm39) M60I probably damaging Het
Or6ae1 A G 7: 139,741,993 (GRCm39) I290T possibly damaging Het
Or6c1 A T 10: 129,517,968 (GRCm39) F213L probably benign Het
Pcif1 A T 2: 164,731,610 (GRCm39) Q521L probably damaging Het
Plod3 A G 5: 137,018,772 (GRCm39) N270D probably damaging Het
Ppp1r37 A T 7: 19,266,636 (GRCm39) L417* probably null Het
Psmd6 C T 14: 14,116,166 (GRCm38) V141I probably benign Het
Rcn1 A T 2: 105,225,121 (GRCm39) Y111* probably null Het
Rell2 G A 18: 38,090,758 (GRCm39) R145H probably damaging Het
Scaper T C 9: 55,745,426 (GRCm39) K614R probably damaging Het
Scart2 A G 7: 139,878,275 (GRCm39) I1001V probably benign Het
Shbg C T 11: 69,508,045 (GRCm39) E107K probably damaging Het
Slc30a3 G A 5: 31,244,247 (GRCm39) P345L possibly damaging Het
Tchp A C 5: 114,857,681 (GRCm39) E391D probably damaging Het
Timeless A G 10: 128,077,520 (GRCm39) D200G probably damaging Het
Tspear A G 10: 77,700,601 (GRCm39) T144A possibly damaging Het
Usp5 C G 6: 124,799,593 (GRCm39) K318N possibly damaging Het
Vgll3 T C 16: 65,624,820 (GRCm39) V56A possibly damaging Het
Vmn2r71 C T 7: 85,268,436 (GRCm39) T213I probably benign Het
Wtap T C 17: 13,186,423 (GRCm39) T375A probably benign Het
Yipf2 T G 9: 21,503,204 (GRCm39) T88P probably damaging Het
Zfp382 T A 7: 29,830,979 (GRCm39) D89E probably benign Het
Zfp955b C T 17: 33,524,209 (GRCm39) probably benign Het
Zpr1 C T 9: 46,185,961 (GRCm39) T144I 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
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
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'- CAGTCATCCAGCAGGGTAGAAG -3'
(R):5'- TGACCTGATCATCCCTGACC -3'

Sequencing Primer
(F):5'- CATCCAGCAGGGTAGAAGGATGG -3'
(R):5'- GATCATCCCTGACCCTGGC -3'
Posted On 2016-04-27