Incidental Mutation 'R5362:Plekhg4'
ID 422879
Institutional Source Beutler Lab
Gene Symbol Plekhg4
Ensembl Gene ENSMUSG00000014782
Gene Name pleckstrin homology domain containing, family G (with RhoGef domain) member 4
Synonyms 4931414L13Rik
MMRRC Submission 043264-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.176) question?
Stock # R5362 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 106099906-106109494 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 106108030 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 1029 (V1029E)
Ref Sequence ENSEMBL: ENSMUSP00000014927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014927] [ENSMUST00000063071] [ENSMUST00000159286] [ENSMUST00000160191] [ENSMUST00000167294] [ENSMUST00000214056] [ENSMUST00000168196]
AlphaFold A0A1L1SU27
Predicted Effect possibly damaging
Transcript: ENSMUST00000014927
AA Change: V1029E

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000014927
Gene: ENSMUSG00000014782
AA Change: V1029E

DomainStartEndE-ValueType
low complexity region 364 377 N/A INTRINSIC
low complexity region 440 451 N/A INTRINSIC
low complexity region 463 475 N/A INTRINSIC
low complexity region 535 547 N/A INTRINSIC
low complexity region 559 577 N/A INTRINSIC
low complexity region 653 664 N/A INTRINSIC
low complexity region 701 718 N/A INTRINSIC
RhoGEF 729 900 3.15e-29 SMART
PH 914 1022 1.44e-5 SMART
low complexity region 1148 1169 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000063071
SMART Domains Protein: ENSMUSP00000050687
Gene: ENSMUSG00000051648

DomainStartEndE-ValueType
Pfam:BTB_2 15 92 1.3e-9 PFAM
internal_repeat_1 173 251 8.34e-9 PROSPERO
internal_repeat_1 429 509 8.34e-9 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000159286
SMART Domains Protein: ENSMUSP00000125556
Gene: ENSMUSG00000014782

DomainStartEndE-ValueType
SCOP:d1aua_2 136 275 5e-9 SMART
Blast:SEC14 137 271 9e-8 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000160191
AA Change: V960E

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000125249
Gene: ENSMUSG00000014782
AA Change: V960E

DomainStartEndE-ValueType
low complexity region 295 308 N/A INTRINSIC
low complexity region 371 382 N/A INTRINSIC
low complexity region 394 406 N/A INTRINSIC
low complexity region 466 478 N/A INTRINSIC
low complexity region 490 508 N/A INTRINSIC
low complexity region 584 595 N/A INTRINSIC
low complexity region 632 649 N/A INTRINSIC
RhoGEF 660 831 3.15e-29 SMART
PH 845 953 1.44e-5 SMART
low complexity region 1079 1100 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161672
Predicted Effect probably benign
Transcript: ENSMUST00000167294
SMART Domains Protein: ENSMUSP00000130831
Gene: ENSMUSG00000051648

DomainStartEndE-ValueType
Pfam:BTB_2 15 93 3.9e-10 PFAM
internal_repeat_1 173 251 6.24e-9 PROSPERO
internal_repeat_1 406 486 6.24e-9 PROSPERO
Predicted Effect possibly damaging
Transcript: ENSMUST00000214056
AA Change: V1065E

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000168196
Meta Mutation Damage Score 0.2966 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene can function as a guanine nucleotide exchange factor (GEF) and may play a role in intracellular signaling and cytoskeleton dynamics at the Golgi apparatus. Polymorphisms in the region of this gene have been found to be associated with spinocerebellar ataxia in some study populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5530400C23Rik A T 6: 133,271,445 (GRCm39) D163V probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Ankrd17 G A 5: 90,413,404 (GRCm39) A1170V probably damaging Het
Ano1 A C 7: 144,202,337 (GRCm39) probably benign Het
Atl2 T C 17: 80,168,890 (GRCm39) N37D probably damaging Het
C2cd5 T C 6: 143,028,969 (GRCm39) Y90C probably damaging Het
Carm1 A G 9: 21,498,655 (GRCm39) N499S probably benign Het
Ccdc47 G A 11: 106,099,039 (GRCm39) probably null Het
Cd300lf G T 11: 115,007,940 (GRCm39) L251M probably damaging Het
Cfap74 A G 4: 155,522,623 (GRCm39) S670G probably damaging Het
Clec4a1 A G 6: 122,909,196 (GRCm39) D188G probably damaging Het
Col4a1 T C 8: 11,295,760 (GRCm39) probably benign Het
Csn2 T A 5: 87,842,508 (GRCm39) H165L probably benign Het
Cstdc1 G T 2: 148,625,298 (GRCm39) L77F probably damaging Het
Dlx3 T C 11: 95,011,326 (GRCm39) V60A possibly damaging Het
Elp1 A C 4: 56,778,969 (GRCm39) I616S probably damaging Het
Fam221a A G 6: 49,353,049 (GRCm39) H21R probably damaging Het
Foxj3 T A 4: 119,477,340 (GRCm39) H349Q unknown Het
Gm37240 G A 3: 84,423,000 (GRCm39) T123I probably damaging Het
Gpc1 A T 1: 92,782,615 (GRCm39) T121S probably benign Het
Insyn2b G A 11: 34,352,788 (GRCm39) E277K probably damaging Het
Itga2b A G 11: 102,351,961 (GRCm39) V512A probably damaging Het
Itgae A G 11: 73,002,675 (GRCm39) Y144C probably damaging Het
Izumo3 A T 4: 92,035,037 (GRCm39) I60K possibly damaging Het
Kif9 G A 9: 110,319,012 (GRCm39) V159M probably damaging Het
Lrp1b T C 2: 41,265,914 (GRCm39) D229G probably damaging Het
Nkpd1 G A 7: 19,257,193 (GRCm39) G324D probably damaging Het
Nrp2 T A 1: 62,808,221 (GRCm39) Y617N probably benign Het
Ocm T C 5: 143,960,674 (GRCm39) D91G probably damaging Het
Or4l15 A G 14: 50,197,986 (GRCm39) L181P possibly damaging Het
Or52ad1 A G 7: 102,995,454 (GRCm39) V227A probably damaging Het
Or52n2b A G 7: 104,565,834 (GRCm39) I223T probably damaging Het
Or6c70 T C 10: 129,710,422 (GRCm39) E68G probably damaging Het
Pex5l G A 3: 33,047,065 (GRCm39) A295V probably damaging Het
Pou2f2 G A 7: 24,792,320 (GRCm39) P512S probably benign Het
Prpf8 G A 11: 75,397,236 (GRCm39) R2023Q possibly damaging Het
Ptprd A T 4: 76,047,050 (GRCm39) S399R probably damaging Het
Qrich2 T C 11: 116,337,976 (GRCm39) Y1889C probably damaging Het
R3hdm4 C T 10: 79,748,292 (GRCm39) E162K possibly damaging Het
Ranbp6 G T 19: 29,789,128 (GRCm39) T408K probably benign Het
Scn7a G A 2: 66,530,342 (GRCm39) R668C probably damaging Het
Sertad4 T C 1: 192,529,414 (GRCm39) N134S probably damaging Het
Spg11 G T 2: 121,891,481 (GRCm39) N1963K probably damaging Het
Svil C T 18: 5,057,345 (GRCm39) P598S probably damaging Het
Top2a T C 11: 98,909,738 (GRCm39) N120S probably damaging Het
Trappc9 C T 15: 72,930,066 (GRCm39) E97K possibly damaging Het
Vmn1r91 A T 7: 19,835,386 (GRCm39) T102S probably benign Het
Vmn2r99 G T 17: 19,599,601 (GRCm39) M428I probably benign Het
Zfp62 A T 11: 49,107,439 (GRCm39) H510L probably damaging Het
Other mutations in Plekhg4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00515:Plekhg4 APN 8 106,102,370 (GRCm39) missense probably benign 0.01
IGL00970:Plekhg4 APN 8 106,105,067 (GRCm39) missense probably benign 0.02
IGL01784:Plekhg4 APN 8 106,105,589 (GRCm39) missense probably damaging 1.00
IGL02063:Plekhg4 APN 8 106,105,884 (GRCm39) splice site probably benign
IGL02371:Plekhg4 APN 8 106,105,691 (GRCm39) splice site probably null
IGL02984:Plekhg4 UTSW 8 106,107,020 (GRCm39) missense probably damaging 1.00
R0013:Plekhg4 UTSW 8 106,102,028 (GRCm39) nonsense probably null
R0105:Plekhg4 UTSW 8 106,108,644 (GRCm39) missense possibly damaging 0.65
R0105:Plekhg4 UTSW 8 106,108,644 (GRCm39) missense possibly damaging 0.65
R0631:Plekhg4 UTSW 8 106,105,934 (GRCm39) missense probably damaging 1.00
R1078:Plekhg4 UTSW 8 106,108,309 (GRCm39) nonsense probably null
R1201:Plekhg4 UTSW 8 106,108,305 (GRCm39) missense probably damaging 1.00
R1222:Plekhg4 UTSW 8 106,105,742 (GRCm39) missense probably benign 0.03
R1418:Plekhg4 UTSW 8 106,105,742 (GRCm39) missense probably benign 0.03
R1459:Plekhg4 UTSW 8 106,108,431 (GRCm39) missense probably damaging 0.98
R1465:Plekhg4 UTSW 8 106,107,672 (GRCm39) splice site probably benign
R1558:Plekhg4 UTSW 8 106,108,467 (GRCm39) missense possibly damaging 0.73
R1637:Plekhg4 UTSW 8 106,108,413 (GRCm39) missense probably benign 0.08
R1757:Plekhg4 UTSW 8 106,108,293 (GRCm39) missense probably damaging 0.99
R1922:Plekhg4 UTSW 8 106,105,017 (GRCm39) missense probably damaging 1.00
R1961:Plekhg4 UTSW 8 106,108,096 (GRCm39) missense probably damaging 0.99
R2074:Plekhg4 UTSW 8 106,103,084 (GRCm39) small deletion probably benign
R2113:Plekhg4 UTSW 8 106,106,066 (GRCm39) missense probably damaging 1.00
R2124:Plekhg4 UTSW 8 106,103,084 (GRCm39) small deletion probably benign
R2196:Plekhg4 UTSW 8 106,103,084 (GRCm39) small deletion probably benign
R2321:Plekhg4 UTSW 8 106,104,172 (GRCm39) missense probably benign 0.00
R2432:Plekhg4 UTSW 8 106,108,468 (GRCm39) missense probably benign 0.00
R2908:Plekhg4 UTSW 8 106,107,493 (GRCm39) missense probably damaging 1.00
R2910:Plekhg4 UTSW 8 106,103,084 (GRCm39) small deletion probably benign
R4179:Plekhg4 UTSW 8 106,108,030 (GRCm39) missense possibly damaging 0.93
R4180:Plekhg4 UTSW 8 106,108,030 (GRCm39) missense possibly damaging 0.93
R4513:Plekhg4 UTSW 8 106,107,034 (GRCm39) missense probably damaging 1.00
R4678:Plekhg4 UTSW 8 106,107,003 (GRCm39) nonsense probably null
R4946:Plekhg4 UTSW 8 106,108,628 (GRCm39) missense probably null 0.01
R5223:Plekhg4 UTSW 8 106,105,581 (GRCm39) missense probably benign 0.18
R5454:Plekhg4 UTSW 8 106,102,745 (GRCm39) critical splice donor site probably null
R5609:Plekhg4 UTSW 8 106,106,134 (GRCm39) critical splice donor site probably null
R5624:Plekhg4 UTSW 8 106,107,382 (GRCm39) missense probably damaging 0.99
R5806:Plekhg4 UTSW 8 106,105,542 (GRCm39) missense possibly damaging 0.85
R6297:Plekhg4 UTSW 8 106,104,472 (GRCm39) missense probably damaging 1.00
R7198:Plekhg4 UTSW 8 106,105,329 (GRCm39) missense probably damaging 1.00
R7443:Plekhg4 UTSW 8 106,107,499 (GRCm39) missense probably damaging 1.00
R7570:Plekhg4 UTSW 8 106,105,316 (GRCm39) missense possibly damaging 0.95
R7577:Plekhg4 UTSW 8 106,102,031 (GRCm39) missense probably benign
R7632:Plekhg4 UTSW 8 106,106,782 (GRCm39) missense probably damaging 1.00
R7782:Plekhg4 UTSW 8 106,104,399 (GRCm39) missense probably benign 0.14
R7958:Plekhg4 UTSW 8 106,103,281 (GRCm39) missense possibly damaging 0.86
R8239:Plekhg4 UTSW 8 106,107,546 (GRCm39) nonsense probably null
R8335:Plekhg4 UTSW 8 106,102,848 (GRCm39) missense probably damaging 0.97
R8411:Plekhg4 UTSW 8 106,103,961 (GRCm39) nonsense probably null
R9011:Plekhg4 UTSW 8 106,102,284 (GRCm39) missense probably benign 0.23
R9017:Plekhg4 UTSW 8 106,105,332 (GRCm39) missense possibly damaging 0.85
R9255:Plekhg4 UTSW 8 106,103,271 (GRCm39) missense probably benign 0.00
R9297:Plekhg4 UTSW 8 106,105,907 (GRCm39) missense probably damaging 1.00
R9391:Plekhg4 UTSW 8 106,106,043 (GRCm39) missense probably damaging 1.00
R9524:Plekhg4 UTSW 8 106,101,398 (GRCm39) missense unknown
R9613:Plekhg4 UTSW 8 106,107,620 (GRCm39) missense probably damaging 1.00
R9683:Plekhg4 UTSW 8 106,102,923 (GRCm39) missense probably benign 0.00
Z1177:Plekhg4 UTSW 8 106,101,474 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GCCTAGAGACTTGGAAAAGCTTG -3'
(R):5'- AGTAACAGAGGGTCTGGTCG -3'

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