Incidental Mutation 'R5020:Plekho1'
ID389125
Institutional Source Beutler Lab
Gene Symbol Plekho1
Ensembl Gene ENSMUSG00000015745
Gene Namepleckstrin homology domain containing, family O member 1
SynonymsJZA-20, Jza2, 2810052M02Rik, CKIP-1
MMRRC Submission 042611-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.108) question?
Stock #R5020 (G1)
Quality Score225
Status Validated
Chromosome3
Chromosomal Location95988429-95996001 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 95989539 bp
ZygosityHeterozygous
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]
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
1300017J02Rik T C 9: 103,282,502 D70G probably benign Het
Acadsb A T 7: 131,441,200 probably null Het
Actl6a A G 3: 32,720,507 I340V possibly damaging Het
Alppl2 C T 1: 87,089,709 V19I probably benign Het
Ankrd34c T C 9: 89,729,706 K194R probably benign Het
Anpep T A 7: 79,833,727 M672L probably benign Het
Arhgap31 T C 16: 38,603,076 D876G probably damaging Het
Arid2 T A 15: 96,371,988 N1327K probably damaging Het
Atp5d C A 10: 80,145,429 P101Q probably benign Het
Bcl7b G A 5: 135,171,163 probably null Het
Brca2 A T 5: 150,560,436 S2907C probably damaging Het
Ccser2 T C 14: 36,940,177 E350G probably benign Het
Cdh23 G T 10: 60,308,032 D2929E probably damaging Het
Clec2i T A 6: 128,893,658 V78E probably benign Het
Cpxm1 A T 2: 130,395,977 probably null Het
Crybg3 C T 16: 59,554,796 V2032I possibly damaging Het
Eif5b A T 1: 38,019,069 K151* probably null Het
Gemin7 T A 7: 19,565,423 E82D possibly damaging Het
Gm14496 A G 2: 181,991,359 E45G possibly damaging Het
Gm20767 T C 13: 120,155,116 F164L possibly damaging Het
Gm21915 T C 9: 40,670,670 S20P probably damaging Het
Gm8126 A C 14: 43,261,569 E165A probably damaging Het
Grin2b T C 6: 135,733,407 D1047G probably benign Het
Igkv4-80 A C 6: 69,016,665 S81A probably benign Het
Ikbke T A 1: 131,273,660 Y150F probably damaging Het
Itih5 T A 2: 10,240,504 probably null Het
Lrig2 T C 3: 104,457,901 Q645R possibly damaging Het
Map4 A G 9: 110,068,800 M712V probably benign Het
Mecom A G 3: 29,961,106 S823P probably damaging Het
Mettl25 A G 10: 105,826,207 Y301H possibly damaging Het
Mga A T 2: 119,951,173 K2136* probably null Het
Mmp24 A G 2: 155,810,284 E304G probably benign Het
Mmp3 T A 9: 7,445,984 D29E probably benign Het
Nbas T A 12: 13,374,712 I984N probably damaging Het
Nedd9 A G 13: 41,315,794 Y628H probably damaging Het
Nlrp2 C T 7: 5,328,077 C440Y probably damaging Het
Olfr1279 T C 2: 111,306,292 V29A probably benign Het
Olfr414 T G 1: 174,430,671 L81R probably damaging Het
P4ha2 T C 11: 54,131,190 V513A probably damaging Het
Pcsk4 T C 10: 80,326,035 N124S probably benign Het
Phf12 T C 11: 78,023,796 F139S probably damaging Het
Phlpp2 T A 8: 109,940,082 L1081H probably damaging Het
Phospho2 T A 2: 69,795,979 F160I probably damaging Het
Plch2 T G 4: 155,007,083 D115A probably damaging Het
Psma4 C A 9: 54,952,772 A47E probably damaging Het
Rasa4 A C 5: 136,101,299 Q303P probably damaging Het
Rbmxl2 C T 7: 107,210,207 P233L probably damaging Het
Reln A T 5: 22,034,638 L877H probably damaging Het
Rtel1 A G 2: 181,322,514 probably null Het
Sept12 T C 16: 4,993,756 D116G probably damaging Het
Son T A 16: 91,656,375 V670E probably damaging Het
Spag9 T A 11: 94,097,786 I544N probably benign Het
Spsb3 T G 17: 24,887,062 probably benign Het
Tgfbr3 T C 5: 107,214,970 T59A probably damaging Het
Tsc1 T A 2: 28,676,519 I649K probably damaging Het
Txndc9 T C 1: 37,995,712 D37G probably benign Het
Uba7 C T 9: 107,978,914 A496V probably benign Het
Usf3 T A 16: 44,215,526 I123N probably damaging Het
Vmn1r184 T A 7: 26,267,530 S234T possibly damaging Het
Vsig10l C A 7: 43,465,317 S314* probably null Het
Wdfy4 A G 14: 33,079,935 F1922S probably damaging Het
Zfp219 C T 14: 52,009,655 R5H probably damaging Het
Zfp946 G T 17: 22,455,603 C446F probably benign Het
Other mutations in Plekho1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01796:Plekho1 APN 3 95990835 missense probably damaging 1.00
IGL02198:Plekho1 APN 3 95992184 missense probably damaging 1.00
IGL02395:Plekho1 APN 3 95995564 nonsense probably null
IGL02898:Plekho1 APN 3 95992181 missense probably damaging 1.00
IGL02970:Plekho1 APN 3 95990902 missense probably damaging 1.00
R1474:Plekho1 UTSW 3 95989566 missense probably damaging 1.00
R2131:Plekho1 UTSW 3 95989117 missense probably damaging 1.00
R2437:Plekho1 UTSW 3 95992185 missense probably damaging 1.00
R4698:Plekho1 UTSW 3 95995652 missense possibly damaging 0.83
R4860:Plekho1 UTSW 3 95988993 missense possibly damaging 0.68
R4860:Plekho1 UTSW 3 95988993 missense possibly damaging 0.68
R5237:Plekho1 UTSW 3 95995625 missense probably damaging 1.00
R6528:Plekho1 UTSW 3 95989321 missense probably damaging 1.00
R7571:Plekho1 UTSW 3 95989254 missense probably damaging 0.97
Z1176:Plekho1 UTSW 3 95995715 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 On2016-06-06