Incidental Mutation 'R5237:Plekho1'
ID 398486
Institutional Source Beutler Lab
Gene Symbol Plekho1
Ensembl Gene ENSMUSG00000015745
Gene Name pleckstrin homology domain containing, family O member 1
Synonyms JZA-20, Jza2, CKIP-1, 2810052M02Rik
MMRRC Submission 042808-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R5237 (G1)
Quality Score 139
Status Validated
Chromosome 3
Chromosomal Location 95896110-95903258 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 95902937 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 24 (V24A)
Ref Sequence ENSEMBL: ENSMUSP00000015889 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015889] [ENSMUST00000015891] [ENSMUST00000123006] [ENSMUST00000130043] [ENSMUST00000143485]
AlphaFold Q9JIY0
Predicted Effect probably damaging
Transcript: ENSMUST00000015889
AA Change: V24A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000015889
Gene: ENSMUSG00000015745
AA Change: V24A

DomainStartEndE-ValueType
PH 21 133 2.68e-14 SMART
PDB:3AA1|C 147 169 2e-8 PDB
low complexity region 337 349 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000015891
SMART Domains Protein: ENSMUSP00000015891
Gene: ENSMUSG00000015747

DomainStartEndE-ValueType
Pfam:Sec1 23 546 3e-119 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000123006
AA Change: V15A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118665
Gene: ENSMUSG00000015745
AA Change: V15A

DomainStartEndE-ValueType
PH 12 124 2.68e-14 SMART
low complexity region 294 306 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000130043
AA Change: V33A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000115035
Gene: ENSMUSG00000015745
AA Change: V33A

DomainStartEndE-ValueType
low complexity region 7 15 N/A INTRINSIC
PH 30 142 2.68e-14 SMART
PDB:3AA1|C 156 178 2e-8 PDB
Predicted Effect possibly damaging
Transcript: ENSMUST00000143485
AA Change: V16A

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000114505
Gene: ENSMUSG00000015745
AA Change: V16A

DomainStartEndE-ValueType
PH 13 124 1.08e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157043
Meta Mutation Damage Score 0.1420 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.5%
Validation Efficiency 100% (76/76)
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit age-dependent increase in bone volume and increased osteoblast activity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 G A 4: 144,349,850 (GRCm39) W369* probably null Het
Adamts3 A T 5: 89,923,236 (GRCm39) M190K probably benign Het
Adamtsl1 T C 4: 86,303,906 (GRCm39) probably null Het
Adcy1 A T 11: 7,099,553 (GRCm39) I678L probably benign Het
Agtrap A G 4: 148,166,817 (GRCm39) S27P probably benign Het
Ankrd24 C A 10: 81,478,379 (GRCm39) probably benign Het
Atg2a G T 19: 6,296,844 (GRCm39) V383L probably benign Het
Ccdc40 T C 11: 119,150,802 (GRCm39) V1105A probably benign Het
Cenpf A T 1: 189,391,730 (GRCm39) S684T probably benign Het
Cog7 A G 7: 121,550,444 (GRCm39) L360P probably damaging Het
Col12a1 T A 9: 79,607,544 (GRCm39) Q428L probably benign Het
Col4a1 G A 8: 11,295,068 (GRCm39) probably benign Het
Cpeb2 G A 5: 43,443,099 (GRCm39) C930Y probably damaging Het
Cul9 T C 17: 46,854,393 (GRCm39) D103G probably benign Het
Cyb5a T G 18: 84,889,689 (GRCm39) F39L probably damaging Het
Cyp2d12 T A 15: 82,442,207 (GRCm39) probably null Het
Dnah7a A C 1: 53,486,690 (GRCm39) probably null Het
Efcab9 A T 11: 32,472,832 (GRCm39) I205K probably benign Het
Ezh1 A G 11: 101,107,819 (GRCm39) probably null Het
Galnt6 C A 15: 100,591,274 (GRCm39) C610F probably damaging Het
Gata4 C T 14: 63,478,075 (GRCm39) A175T probably benign Het
Gcc1 A T 6: 28,420,651 (GRCm39) I222K probably benign Het
Gm5591 T A 7: 38,221,631 (GRCm39) H146L probably benign Het
H2-T23 C T 17: 36,341,258 (GRCm39) probably null Het
Hmcn2 T A 2: 31,304,728 (GRCm39) I3124N probably benign Het
Hsf2 C A 10: 57,382,317 (GRCm39) D364E probably benign Het
Il15ra A G 2: 11,738,016 (GRCm39) T250A possibly damaging Het
Large2 T C 2: 92,197,487 (GRCm39) E372G probably benign Het
Map2 A G 1: 66,478,169 (GRCm39) probably benign Het
Med24 T C 11: 98,601,609 (GRCm39) Y524C probably damaging Het
Mfsd6l C A 11: 68,448,096 (GRCm39) Q316K probably benign Het
Mroh6 T C 15: 75,757,840 (GRCm39) T417A possibly damaging Het
Mymk T C 2: 26,952,200 (GRCm39) *181W probably null Het
Nup210l A G 3: 90,087,505 (GRCm39) T1093A probably benign Het
Or10al4 T A 17: 38,037,268 (GRCm39) C118S probably damaging Het
Or10p1 A G 10: 129,443,732 (GRCm39) V206A probably benign Het
Or52w1 A T 7: 105,018,513 (GRCm39) K327* probably null Het
Or8b54 C T 9: 38,687,252 (GRCm39) R234W probably damaging Het
Papola T C 12: 105,793,219 (GRCm39) V513A probably benign Het
Pex26 T A 6: 121,162,806 (GRCm39) L119Q probably damaging Het
Phldb2 T C 16: 45,568,249 (GRCm39) I1219V probably damaging Het
Plch2 A G 4: 155,095,251 (GRCm39) V64A probably benign Het
Pon2 A C 6: 5,265,455 (GRCm39) S311A probably benign Het
Pramel31 G T 4: 144,089,041 (GRCm39) E120* probably null Het
Rsrc2 T C 5: 123,877,645 (GRCm39) probably benign Het
Selenov T C 7: 27,987,572 (GRCm39) D295G probably damaging Het
Serpina10 T A 12: 103,595,075 (GRCm39) Y48F probably benign Het
Setbp1 T A 18: 78,900,190 (GRCm39) D1159V possibly damaging Het
Setx C T 2: 29,036,995 (GRCm39) T1160I probably benign Het
Sin3b A C 8: 73,459,971 (GRCm39) probably null Het
Skint11 A G 4: 114,102,042 (GRCm39) K352E possibly damaging Het
Slitrk5 T A 14: 111,919,118 (GRCm39) V914E possibly damaging Het
Srgap1 A G 10: 121,643,788 (GRCm39) Y633H probably damaging Het
Stard9 A G 2: 120,529,839 (GRCm39) D2032G probably damaging Het
Sv2c G A 13: 96,118,391 (GRCm39) T486I possibly damaging Het
Tesk1 T C 4: 43,447,100 (GRCm39) F496S probably damaging Het
Tfg T A 16: 56,533,071 (GRCm39) E29D possibly damaging Het
Tnc G A 4: 63,880,333 (GRCm39) T2038I probably damaging Het
Tor4a T G 2: 25,084,976 (GRCm39) N309T probably damaging Het
Trim69 A G 2: 122,003,821 (GRCm39) T257A probably benign Het
Trpm6 C T 19: 18,790,828 (GRCm39) A621V probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Vmn1r6 A C 6: 56,980,179 (GRCm39) Q258H probably damaging Het
Vmn2r84 A G 10: 130,221,863 (GRCm39) C786R probably damaging Het
Xylt2 T C 11: 94,557,953 (GRCm39) D638G probably benign Het
Zfp934 A G 13: 62,665,652 (GRCm39) C330R probably damaging Het
Other mutations in Plekho1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01796:Plekho1 APN 3 95,898,147 (GRCm39) missense probably damaging 1.00
IGL02198:Plekho1 APN 3 95,899,496 (GRCm39) missense probably damaging 1.00
IGL02395:Plekho1 APN 3 95,902,876 (GRCm39) nonsense probably null
IGL02898:Plekho1 APN 3 95,899,493 (GRCm39) missense probably damaging 1.00
IGL02970:Plekho1 APN 3 95,898,214 (GRCm39) missense probably damaging 1.00
R1474:Plekho1 UTSW 3 95,896,878 (GRCm39) missense probably damaging 1.00
R2131:Plekho1 UTSW 3 95,896,429 (GRCm39) missense probably damaging 1.00
R2437:Plekho1 UTSW 3 95,899,497 (GRCm39) missense probably damaging 1.00
R4698:Plekho1 UTSW 3 95,902,964 (GRCm39) missense possibly damaging 0.83
R4860:Plekho1 UTSW 3 95,896,305 (GRCm39) missense possibly damaging 0.68
R4860:Plekho1 UTSW 3 95,896,305 (GRCm39) missense possibly damaging 0.68
R5020:Plekho1 UTSW 3 95,896,851 (GRCm39) missense probably damaging 0.99
R6528:Plekho1 UTSW 3 95,896,633 (GRCm39) missense probably damaging 1.00
R7571:Plekho1 UTSW 3 95,896,566 (GRCm39) missense probably damaging 0.97
R9069:Plekho1 UTSW 3 95,902,995 (GRCm39) missense unknown
R9733:Plekho1 UTSW 3 95,903,091 (GRCm39) missense probably benign
Z1176:Plekho1 UTSW 3 95,903,027 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TTTCTGCAGACACAGGACTTTTG -3'
(R):5'- ATCCCGCCATGAAGAAGAGC -3'

Sequencing Primer
(F):5'- GACCCCTGAACTTGCAGAGATG -3'
(R):5'- CCATGAAGAAGAGCGGCTCC -3'
Posted On 2016-07-06