Incidental Mutation 'R4757:Plekha8'
ID 358230
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 041973-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4757 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 54572096-54622824 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 54599213 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 249 (E249G)
Ref Sequence ENSEMBL: ENSMUSP00000112466 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101385] [ENSMUST00000119706]
AlphaFold Q80W71
Predicted Effect probably benign
Transcript: ENSMUST00000101385
AA Change: E204G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000098935
Gene: ENSMUSG00000005225
AA Change: E204G

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
AA Change: E249G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112466
Gene: ENSMUSG00000005225
AA Change: E249G

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: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik A T 9: 53,336,830 (GRCm39) M45L probably benign Het
Abcb1a T A 5: 8,787,632 (GRCm39) V978D probably damaging Het
Acsm4 T C 7: 119,297,900 (GRCm39) V179A probably benign Het
Agtr1a C A 13: 30,565,842 (GRCm39) Y302* probably null Het
Akap9 T C 5: 4,058,382 (GRCm39) I1677T probably damaging Het
Ankk1 T A 9: 49,327,230 (GRCm39) M650L probably benign Het
Apod T A 16: 31,122,280 (GRCm39) N65Y probably damaging Het
Bcl2l1 T A 2: 152,624,178 (GRCm39) N197Y possibly damaging Het
Brpf1 A T 6: 113,292,072 (GRCm39) I373F probably damaging Het
Car13 T C 3: 14,726,615 (GRCm39) V257A probably damaging Het
Ccdc150 A T 1: 54,317,874 (GRCm39) H271L possibly damaging Het
Cit T A 5: 116,135,608 (GRCm39) I1836N probably damaging Het
Clec12b A G 6: 129,357,655 (GRCm39) S68P probably damaging Het
Col4a4 A G 1: 82,506,187 (GRCm39) F298L unknown Het
Crct1 G A 3: 92,922,093 (GRCm39) Q15* probably null Het
Creld1 A G 6: 113,469,208 (GRCm39) E346G probably benign Het
Ctnnal1 T A 4: 56,847,980 (GRCm39) H53L probably damaging Het
Cyb5d1 T C 11: 69,285,814 (GRCm39) D74G probably damaging Het
Deptor A T 15: 55,075,674 (GRCm39) S293C probably damaging Het
Dnajb12 A G 10: 59,728,592 (GRCm39) S187G probably benign Het
Duoxa2 G T 2: 122,131,072 (GRCm39) V78L possibly damaging Het
Fem1al A T 11: 29,775,454 (GRCm39) M1K probably null Het
Fhod1 C A 8: 106,074,443 (GRCm39) probably benign Het
Foxf2 C T 13: 31,810,172 (GRCm39) P37L unknown Het
Gabbr2 T C 4: 46,875,675 (GRCm39) N149S probably damaging Het
Gckr G T 5: 31,464,728 (GRCm39) M344I possibly damaging Het
Herc6 G A 6: 57,577,045 (GRCm39) probably null Het
Igf1 A T 10: 87,751,287 (GRCm39) E161V probably benign Het
Ighv8-13 T A 12: 115,729,268 (GRCm39) probably benign Het
Igkv6-14 A T 6: 70,412,426 (GRCm39) L12* probably null Het
Kpnb1 C T 11: 97,068,160 (GRCm39) S270N possibly damaging Het
Lingo1 A G 9: 56,527,209 (GRCm39) V460A probably benign Het
Lsm6 T C 8: 79,539,711 (GRCm39) probably null Het
Mccc1 C T 3: 36,050,066 (GRCm39) G42E probably benign Het
Mga A G 2: 119,734,120 (GRCm39) K323E possibly damaging Het
Mks1 A G 11: 87,753,850 (GRCm39) *562W probably null Het
Mrgpra4 T A 7: 47,630,686 (GRCm39) E305V probably damaging Het
Msh4 T A 3: 153,585,024 (GRCm39) H360L probably damaging Het
Mthfsd C T 8: 121,825,737 (GRCm39) probably null Het
Myl12a A T 17: 71,303,798 (GRCm39) F26L possibly damaging Het
Nedd4l A G 18: 65,298,676 (GRCm39) S343G probably damaging Het
Nlgn1 T A 3: 25,490,332 (GRCm39) D465V probably damaging Het
Nlgn1 C T 3: 25,490,507 (GRCm39) V407I possibly damaging Het
Npsr1 T C 9: 24,046,064 (GRCm39) V61A probably benign Het
Nrxn2 A G 19: 6,559,851 (GRCm39) D160G probably damaging Het
Or2p2 T C 13: 21,256,715 (GRCm39) Y252C probably damaging Het
Or52d3 T C 7: 104,229,404 (GRCm39) Y184H possibly damaging Het
Or5b107 A C 19: 13,143,277 (GRCm39) S300R probably benign Het
Or5b113 G T 19: 13,342,810 (GRCm39) A273S probably benign Het
Or9g4 A G 2: 85,504,664 (GRCm39) F277S probably damaging Het
Pbx1 C A 1: 168,023,450 (GRCm39) R235L probably damaging Het
Pcnx4 T C 12: 72,603,067 (GRCm39) V443A probably benign Het
Pde7b T C 10: 20,423,688 (GRCm39) T63A probably benign Het
Phf3 C T 1: 30,859,908 (GRCm39) G873D probably damaging Het
Phox2b A T 5: 67,256,197 (GRCm39) Y30N probably damaging Het
Plch2 T A 4: 155,080,690 (GRCm39) I599F possibly damaging Het
Pou2af1 T A 9: 51,144,439 (GRCm39) Y118N possibly damaging Het
Ppp3cc T A 14: 70,455,635 (GRCm39) K489N possibly damaging Het
Sema4b T C 7: 79,866,577 (GRCm39) L219P probably damaging Het
Slc6a5 T G 7: 49,609,030 (GRCm39) V745G probably benign Het
Slf2 A G 19: 44,923,497 (GRCm39) M104V probably benign Het
Slx1b A G 7: 126,291,701 (GRCm39) V121A probably benign Het
Speer4e2 T A 5: 15,026,222 (GRCm39) H145L probably benign Het
Spen T A 4: 141,200,390 (GRCm39) K2746* probably null Het
Stxbp5l T C 16: 37,008,996 (GRCm39) Y681C probably damaging Het
Sv2b T C 7: 74,773,918 (GRCm39) T518A probably benign Het
Tgm7 A T 2: 120,926,870 (GRCm39) H426Q possibly damaging Het
Tlx2 A G 6: 83,046,900 (GRCm39) F54S probably benign Het
Trp53bp2 A T 1: 182,286,339 (GRCm39) M1060L probably benign Het
Trpv5 T A 6: 41,630,148 (GRCm39) E647D probably damaging Het
Tut1 G T 19: 8,936,672 (GRCm39) K165N possibly damaging Het
Tyro3 A G 2: 119,641,419 (GRCm39) K543E probably damaging Het
Vmn2r69 T A 7: 85,061,575 (GRCm39) Y133F probably damaging Het
Zfhx4 T A 3: 5,465,122 (GRCm39) V1785D possibly damaging Het
Zfp451 A G 1: 33,804,939 (GRCm39) L1037P probably damaging Het
Zscan29 A T 2: 120,991,392 (GRCm39) F799I possibly 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
R0519:Plekha8 UTSW 6 54,599,092 (GRCm39) splice site probably benign
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
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'- TGGATCCTCCTAGCCCTTAG -3'
(R):5'- CGCATTAGCAAGCTCCCTTAGG -3'

Sequencing Primer
(F):5'- GAGCAACATTTCTCAACCTGTGGG -3'
(R):5'- TTAGGAGGTCCGCAGCACAC -3'
Posted On 2015-11-11