Incidental Mutation 'R0519:Plekha8'
ID 48384
Institutional Source Beutler Lab
Gene Symbol Plekha8
Ensembl Gene ENSMUSG00000005225
Gene Name pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8
Synonyms FAPP2
MMRRC Submission 038712-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0519 (G1)
Quality Score 167
Status Validated
Chromosome 6
Chromosomal Location 54572096-54622824 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 54599092 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112466 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101385] [ENSMUST00000119706]
AlphaFold Q80W71
Predicted Effect probably benign
Transcript: ENSMUST00000101385
SMART Domains Protein: ENSMUSP00000098935
Gene: ENSMUSG00000005225

DomainStartEndE-ValueType
Blast:PH 1 50 1e-27 BLAST
PDB:2KCJ|A 1 55 3e-24 PDB
SCOP:d1ki1b2 1 57 2e-4 SMART
Blast:PH 59 128 2e-35 BLAST
Pfam:GLTP 283 429 3.5e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119706
SMART Domains Protein: ENSMUSP00000112466
Gene: ENSMUSG00000005225

DomainStartEndE-ValueType
PH 1 95 1.3e-12 SMART
Blast:PH 106 173 2e-30 BLAST
Pfam:GLTP 330 471 5.6e-46 PFAM
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 96.6%
  • 20x: 93.2%
Validation Efficiency 99% (74/75)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik A G 5: 107,696,067 (GRCm39) R168G probably benign Het
2810004N23Rik C T 8: 125,566,668 (GRCm39) G251R possibly damaging Het
3425401B19Rik A G 14: 32,384,919 (GRCm39) S349P possibly damaging Het
Ackr4 A G 9: 103,976,650 (GRCm39) V99A probably benign Het
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Asxl3 A G 18: 22,656,577 (GRCm39) Q1529R possibly damaging Het
Atg12 T C 18: 46,874,477 (GRCm39) E46G probably benign Het
Cdcp2 A G 4: 106,964,389 (GRCm39) probably benign Het
Clasrp A G 7: 19,318,089 (GRCm39) probably benign Het
Clip2 A G 5: 134,545,005 (GRCm39) V383A probably benign Het
Cntln C T 4: 84,923,290 (GRCm39) probably benign Het
Colgalt2 G T 1: 152,384,312 (GRCm39) A551S possibly damaging Het
Csmd2 A C 4: 128,380,798 (GRCm39) Y2118S possibly damaging Het
Dip2c T A 13: 9,613,244 (GRCm39) V415E probably damaging Het
Dpy19l2 C T 9: 24,469,391 (GRCm39) R755Q probably benign Het
Dsn1 A T 2: 156,840,633 (GRCm39) probably benign Het
Dtd2 T C 12: 52,051,742 (GRCm39) probably benign Het
Dync1i1 A G 6: 6,027,399 (GRCm39) T602A probably benign Het
Ercc6 A C 14: 32,248,799 (GRCm39) D450A probably damaging Het
Fgf12 A T 16: 28,008,380 (GRCm39) V104D probably benign Het
Frem1 A T 4: 82,888,870 (GRCm39) probably null Het
Gcgr G T 11: 120,426,982 (GRCm39) W88L probably damaging Het
Glb1 ACCC ACC 9: 114,250,812 (GRCm39) probably null Het
Hapln1 A G 13: 89,732,835 (GRCm39) probably benign Het
Hmgn3 T C 9: 82,994,301 (GRCm39) E40G probably damaging Het
Hsdl1 G A 8: 120,292,450 (GRCm39) A255V probably damaging Het
Hyls1 T C 9: 35,472,499 (GRCm39) K306E probably damaging Het
Jcad C T 18: 4,649,122 (GRCm39) probably benign Het
Kif14 C A 1: 136,396,885 (GRCm39) A397E probably damaging Het
Lcmt2 A T 2: 120,969,825 (GRCm39) probably null Het
Lifr T C 15: 7,207,061 (GRCm39) L524P probably damaging Het
Ly6g6f T C 17: 35,301,828 (GRCm39) K209E possibly damaging Het
Macf1 G A 4: 123,365,113 (GRCm39) T1651I probably benign Het
Mapk4 T C 18: 74,103,392 (GRCm39) D39G probably damaging Het
Mbl1 A G 14: 40,880,522 (GRCm39) M137V probably damaging Het
Mcm10 G A 2: 5,013,356 (GRCm39) S92L probably benign Het
Mug1 A G 6: 121,828,383 (GRCm39) K265R possibly damaging Het
Mxra7 A G 11: 116,701,612 (GRCm39) probably null Het
Neu3 G A 7: 99,472,524 (GRCm39) probably benign Het
Nsd1 A G 13: 55,460,648 (GRCm39) T2395A probably benign Het
Or1j1 T A 2: 36,702,627 (GRCm39) H159L probably damaging Het
Or5m9 A T 2: 85,877,411 (GRCm39) Y195F probably benign Het
Or6s1 T A 14: 51,308,614 (GRCm39) I79F probably damaging Het
Or7g34 A T 9: 19,478,245 (GRCm39) I145N probably benign Het
Osgepl1 T C 1: 53,360,255 (GRCm39) V327A probably damaging Het
Pcdhb21 T C 18: 37,649,085 (GRCm39) V738A possibly damaging Het
Ptprq A C 10: 107,374,781 (GRCm39) probably benign Het
Pus10 T A 11: 23,661,201 (GRCm39) F263Y probably benign Het
Rad54b A T 4: 11,599,809 (GRCm39) I338F probably damaging Het
Rad54l2 A G 9: 106,585,498 (GRCm39) F756L probably damaging Het
Scn11a A G 9: 119,619,185 (GRCm39) L719P probably damaging Het
Slc2a2 G A 3: 28,772,965 (GRCm39) V253I possibly damaging Het
Slc39a4 A T 15: 76,499,338 (GRCm39) N192K probably benign Het
Soat1 T A 1: 156,268,816 (GRCm39) I245F probably damaging Het
Sorcs2 G A 5: 36,188,534 (GRCm39) A858V probably benign Het
Tcim T C 8: 24,928,651 (GRCm39) T88A possibly damaging Het
Tecta G A 9: 42,259,188 (GRCm39) probably benign Het
Tgm5 C A 2: 120,879,376 (GRCm39) L553F probably damaging Het
Tjp1 A G 7: 64,952,669 (GRCm39) V1555A probably benign Het
Tmem214 A C 5: 31,027,012 (GRCm39) M1L probably null Het
Togaram1 T C 12: 65,012,776 (GRCm39) probably benign Het
Topaz1 C A 9: 122,578,544 (GRCm39) L485I possibly damaging Het
Ttn T C 2: 76,548,626 (GRCm39) probably benign Het
Ube2o A G 11: 116,437,285 (GRCm39) probably null Het
Ubr7 T A 12: 102,734,465 (GRCm39) D246E probably benign Het
Vcpkmt T C 12: 69,629,102 (GRCm39) D132G probably benign Het
Vmn2r111 T A 17: 22,792,102 (GRCm39) Q51H probably benign Het
Vmn2r95 C T 17: 18,659,765 (GRCm39) P170S probably damaging Het
Zbtb38 A G 9: 96,567,826 (GRCm39) I1086T probably damaging Het
Zfp444 G A 7: 6,191,172 (GRCm39) A118T probably benign Het
Zp2 A G 7: 119,737,372 (GRCm39) I272T probably damaging Het
Other mutations in Plekha8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00927:Plekha8 APN 6 54,606,822 (GRCm39) nonsense probably null
IGL01413:Plekha8 APN 6 54,599,261 (GRCm39) missense probably benign 0.00
IGL02148:Plekha8 APN 6 54,592,271 (GRCm39) missense probably damaging 1.00
IGL02959:Plekha8 APN 6 54,592,254 (GRCm39) missense probably damaging 1.00
IGL02986:Plekha8 APN 6 54,606,851 (GRCm39) missense probably damaging 1.00
IGL03214:Plekha8 APN 6 54,612,755 (GRCm39) missense probably damaging 1.00
R0372:Plekha8 UTSW 6 54,593,743 (GRCm39) critical splice donor site probably null
R0606:Plekha8 UTSW 6 54,606,805 (GRCm39) missense probably damaging 1.00
R1797:Plekha8 UTSW 6 54,617,959 (GRCm39) missense probably damaging 1.00
R3015:Plekha8 UTSW 6 54,599,107 (GRCm39) missense probably benign 0.01
R3508:Plekha8 UTSW 6 54,590,179 (GRCm39) missense probably damaging 1.00
R3809:Plekha8 UTSW 6 54,596,334 (GRCm39) missense probably benign 0.00
R4360:Plekha8 UTSW 6 54,599,171 (GRCm39) missense probably benign
R4757:Plekha8 UTSW 6 54,599,213 (GRCm39) missense probably benign
R4822:Plekha8 UTSW 6 54,601,546 (GRCm39) missense probably damaging 1.00
R5721:Plekha8 UTSW 6 54,590,091 (GRCm39) missense probably damaging 1.00
R6359:Plekha8 UTSW 6 54,590,104 (GRCm39) missense probably damaging 0.98
R6756:Plekha8 UTSW 6 54,601,125 (GRCm39) nonsense probably null
R6857:Plekha8 UTSW 6 54,606,920 (GRCm39) missense probably damaging 1.00
R7319:Plekha8 UTSW 6 54,601,206 (GRCm39) missense probably benign 0.06
R7420:Plekha8 UTSW 6 54,590,179 (GRCm39) missense probably damaging 1.00
R7994:Plekha8 UTSW 6 54,592,230 (GRCm39) missense probably damaging 1.00
R8348:Plekha8 UTSW 6 54,607,539 (GRCm39) missense probably damaging 1.00
R8448:Plekha8 UTSW 6 54,607,539 (GRCm39) missense probably damaging 1.00
R8710:Plekha8 UTSW 6 54,599,245 (GRCm39) missense probably benign 0.00
R8889:Plekha8 UTSW 6 54,592,540 (GRCm39) intron probably benign
R8976:Plekha8 UTSW 6 54,607,521 (GRCm39) missense probably damaging 0.99
R9386:Plekha8 UTSW 6 54,605,846 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCACCTCAGGGTACAGGAAAAGCC -3'
(R):5'- TTCACTGGAGATGCTGCAATCCAC -3'

Sequencing Primer
(F):5'- gctttttgcctcagtcccc -3'
(R):5'- CCTCTGTGGACTTCAAATACAAGG -3'
Posted On 2013-06-12