Incidental Mutation 'R5020:Plekho1'
ID 389125
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 042611-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.123) question?
Stock # R5020 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 95896110-95903258 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 95896851 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 215 (F215S)
Ref Sequence ENSEMBL: ENSMUSP00000115035 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015889] [ENSMUST00000123006] [ENSMUST00000130043] [ENSMUST00000143485]
AlphaFold Q9JIY0
Predicted Effect probably damaging
Transcript: ENSMUST00000015889
AA Change: F206S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000015889
Gene: ENSMUSG00000015745
AA Change: F206S

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 damaging
Transcript: ENSMUST00000123006
AA Change: F163S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118665
Gene: ENSMUSG00000015745
AA Change: F163S

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: F215S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000115035
Gene: ENSMUSG00000015745
AA Change: F215S

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 probably benign
Transcript: ENSMUST00000143485
SMART Domains Protein: ENSMUSP00000114505
Gene: ENSMUSG00000015745

DomainStartEndE-ValueType
PH 13 124 1.08e-9 SMART
Meta Mutation Damage Score 0.2387 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency 99% (72/73)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb A T 7: 131,042,929 (GRCm39) probably null Het
Actl6a A G 3: 32,774,656 (GRCm39) I340V possibly damaging Het
Alppl2 C T 1: 87,017,431 (GRCm39) V19I probably benign Het
Ankrd34c T C 9: 89,611,759 (GRCm39) K194R probably benign Het
Anpep T A 7: 79,483,475 (GRCm39) M672L probably benign Het
Arhgap31 T C 16: 38,423,438 (GRCm39) D876G probably damaging Het
Arid2 T A 15: 96,269,869 (GRCm39) N1327K probably damaging Het
Atp5f1d C A 10: 79,981,263 (GRCm39) P101Q probably benign Het
Bcl7b G A 5: 135,200,017 (GRCm39) probably null Het
Brca2 A T 5: 150,483,901 (GRCm39) S2907C probably damaging Het
Ccser2 T C 14: 36,662,134 (GRCm39) E350G probably benign Het
Cdh23 G T 10: 60,143,811 (GRCm39) D2929E probably damaging Het
Clec2i T A 6: 128,870,621 (GRCm39) V78E probably benign Het
Cpxm1 A T 2: 130,237,897 (GRCm39) probably null Het
Crybg3 C T 16: 59,375,159 (GRCm39) V2032I possibly damaging Het
Eif5b A T 1: 38,058,150 (GRCm39) K151* probably null Het
Gemin7 T A 7: 19,299,348 (GRCm39) E82D possibly damaging Het
Gm14496 A G 2: 181,633,152 (GRCm39) E45G possibly damaging Het
Gm21915 T C 9: 40,581,966 (GRCm39) S20P probably damaging Het
Gm8126 A C 14: 43,119,026 (GRCm39) E165A probably damaging Het
Grin2b T C 6: 135,710,405 (GRCm39) D1047G probably benign Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Ikbke T A 1: 131,201,397 (GRCm39) Y150F probably damaging Het
Inhca T C 9: 103,159,701 (GRCm39) D70G probably benign Het
Itih5 T A 2: 10,245,315 (GRCm39) probably null Het
Lrig2 T C 3: 104,365,217 (GRCm39) Q645R possibly damaging Het
Map4 A G 9: 109,897,868 (GRCm39) M712V probably benign Het
Mecom A G 3: 30,015,255 (GRCm39) S823P probably damaging Het
Mettl25 A G 10: 105,662,068 (GRCm39) Y301H possibly damaging Het
Mga A T 2: 119,781,654 (GRCm39) K2136* probably null Het
Mmp24 A G 2: 155,652,204 (GRCm39) E304G probably benign Het
Mmp3 T A 9: 7,445,984 (GRCm39) D29E probably benign Het
Nbas T A 12: 13,424,713 (GRCm39) I984N probably damaging Het
Nedd9 A G 13: 41,469,270 (GRCm39) Y628H probably damaging Het
Nlrp2 C T 7: 5,331,076 (GRCm39) C440Y probably damaging Het
Or4g16 T C 2: 111,136,637 (GRCm39) V29A probably benign Het
Or6p1 T G 1: 174,258,237 (GRCm39) L81R probably damaging Het
P4ha2 T C 11: 54,022,016 (GRCm39) V513A probably damaging Het
Pcsk4 T C 10: 80,161,869 (GRCm39) N124S probably benign Het
Phf12 T C 11: 77,914,622 (GRCm39) F139S probably damaging Het
Phlpp2 T A 8: 110,666,714 (GRCm39) L1081H probably damaging Het
Phospho2 T A 2: 69,626,323 (GRCm39) F160I probably damaging Het
Plch2 T G 4: 155,091,540 (GRCm39) D115A probably damaging Het
Psma4 C A 9: 54,860,056 (GRCm39) A47E probably damaging Het
Rasa4 A C 5: 136,130,153 (GRCm39) Q303P probably damaging Het
Rbmxl2 C T 7: 106,809,414 (GRCm39) P233L probably damaging Het
Reln A T 5: 22,239,636 (GRCm39) L877H probably damaging Het
Rtel1 A G 2: 180,964,307 (GRCm39) probably null Het
Septin12 T C 16: 4,811,620 (GRCm39) D116G probably damaging Het
Son T A 16: 91,453,263 (GRCm39) V670E probably damaging Het
Spag9 T A 11: 93,988,612 (GRCm39) I544N probably benign Het
Spsb3 T G 17: 25,106,036 (GRCm39) probably benign Het
Tcstv2c T C 13: 120,616,652 (GRCm39) F164L possibly damaging Het
Tgfbr3 T C 5: 107,362,836 (GRCm39) T59A probably damaging Het
Tsc1 T A 2: 28,566,531 (GRCm39) I649K probably damaging Het
Txndc9 T C 1: 38,034,793 (GRCm39) D37G probably benign Het
Uba7 C T 9: 107,856,113 (GRCm39) A496V probably benign Het
Usf3 T A 16: 44,035,889 (GRCm39) I123N probably damaging Het
Vmn1r184 T A 7: 25,966,955 (GRCm39) S234T possibly damaging Het
Vsig10l C A 7: 43,114,741 (GRCm39) S314* probably null Het
Wdfy4 A G 14: 32,801,892 (GRCm39) F1922S probably damaging Het
Zfp219 C T 14: 52,247,112 (GRCm39) R5H probably damaging Het
Zfp946 G T 17: 22,674,584 (GRCm39) C446F probably benign 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
R5237:Plekho1 UTSW 3 95,902,937 (GRCm39) missense probably damaging 1.00
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'- ACTGGGGAACTTCTTCAGTG -3'
(R):5'- CTCAAATCGTCATCACAGGGGTC -3'

Sequencing Primer
(F):5'- AACTTCTTCAGTGCTTGTGGG -3'
(R):5'- GTCATCACAGGGGTCAAACACAG -3'
Posted On 2016-06-06