Incidental Mutation 'R6528:Plekho1'
ID522047
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
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.112) question?
Stock #R6528 (G1)
Quality Score195.009
Status Validated
Chromosome3
Chromosomal Location95988429-95996001 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 95989321 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Asparagine at position 236 (D236N)
Ref Sequence ENSEMBL: ENSMUSP00000118665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015889] [ENSMUST00000123006] [ENSMUST00000130043] [ENSMUST00000143485]
Predicted Effect probably damaging
Transcript: ENSMUST00000015889
AA Change: D279N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000015889
Gene: ENSMUSG00000015745
AA Change: D279N

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: D236N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118665
Gene: ENSMUSG00000015745
AA Change: D236N

DomainStartEndE-ValueType
PH 12 124 2.68e-14 SMART
low complexity region 294 306 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130043
SMART Domains Protein: ENSMUSP00000115035
Gene: ENSMUSG00000015745

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.6%
Validation Efficiency 98% (55/56)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 C T 8: 55,872,561 R286H possibly damaging Het
Arhgap29 T A 3: 122,014,702 N1176K probably benign Het
C87977 A G 4: 144,208,811 V120A probably damaging Het
Cacfd1 T G 2: 27,018,939 D97E probably benign Het
Ccnj C A 19: 40,832,085 probably null Het
Chad A G 11: 94,565,624 Y176C probably damaging Het
Chd5 T C 4: 152,356,676 L191P probably damaging Het
Cmtm1 T C 8: 104,309,295 D190G possibly damaging Het
Cyp3a16 C T 5: 145,440,431 A449T probably damaging Het
Eml5 T C 12: 98,824,637 E1334G probably benign Het
Endou C T 15: 97,719,629 E147K probably damaging Het
Fbxo21 C A 5: 118,000,356 H449N probably benign Het
Fkbp15 A G 4: 62,332,270 I363T probably damaging Het
Gm12887 C A 4: 121,615,637 G103C probably damaging Het
Gm14410 T A 2: 177,193,508 H321L probably damaging Het
Gtf2h3 C T 5: 124,584,297 T121I probably benign Het
Irgm2 C T 11: 58,220,052 P202S probably benign Het
Khsrp G A 17: 57,023,543 T551I probably damaging Het
Lpin2 T A 17: 71,244,005 I720N probably damaging Het
Lypd8 G A 11: 58,384,613 G58E probably damaging Het
Mdn1 G T 4: 32,713,780 L1952F probably damaging Het
Med13 G A 11: 86,298,954 P1043L probably damaging Het
Mycbp2 T C 14: 103,142,881 T3832A probably damaging Het
Nrxn3 C T 12: 89,513,049 R654C probably damaging Het
Olfr1082 T C 2: 86,594,465 D121G probably damaging Het
Olfr512 T C 7: 108,713,431 L14P probably damaging Het
Olfr530 G T 7: 140,373,441 H56Q possibly damaging Het
Olfr535 A G 7: 140,493,051 M138V probably damaging Het
Pcdhb6 A G 18: 37,334,503 D159G probably damaging Het
Plec T C 15: 76,174,430 E3759G probably damaging Het
Pnma1 T A 12: 84,147,423 I169F probably benign Het
Ppl T A 16: 5,087,616 H1605L probably benign Het
Ppp2r2b T A 18: 42,688,338 M252L probably benign Het
Prickle4 T A 17: 47,689,333 R246* probably null Het
Rad50 G A 11: 53,652,282 T1235I probably damaging Het
Ranbp10 T C 8: 105,779,956 N244S probably damaging Het
Robo4 T C 9: 37,404,368 S306P possibly damaging Het
Shox2 C A 3: 66,981,285 R91L probably benign Het
Tbx5 A G 5: 119,883,111 E394G probably damaging Het
Tcl1b5 A G 12: 105,178,999 N74S probably benign Het
Tgif1 G A 17: 70,846,560 probably benign Het
Tmem128 T A 5: 38,266,499 probably null Het
Trio A G 15: 27,805,870 S511P probably damaging Het
Trps1 A G 15: 50,822,427 I114T probably benign Het
Ttll8 G T 15: 88,914,238 Q765K probably benign Het
Usp17ld A T 7: 103,250,755 D323E probably damaging Het
Vmn1r232 G A 17: 20,914,047 T97I probably benign Het
Vmn2r28 T A 7: 5,490,685 R87S probably benign Het
Vps26b C G 9: 27,010,466 E254D probably benign Het
Vps8 C A 16: 21,554,125 Y113* probably null Het
Wwc1 C T 11: 35,853,437 E853K probably benign Het
Xcr1 A T 9: 123,855,983 I238N probably damaging Het
Zar1l T A 5: 150,507,130 E272V probably damaging Het
Zfp451 A G 1: 33,777,781 Y146H probably damaging Het
Zfp54 G T 17: 21,433,474 E77* probably null 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
R5020:Plekho1 UTSW 3 95989539 missense probably damaging 0.99
R5237:Plekho1 UTSW 3 95995625 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'- TGTACAGGTCTCTCAGCTCC -3'
(R):5'- TCTTGTGCTGAGAGCTTCC -3'

Sequencing Primer
(F):5'- TCTGTCTCCAGCAGCAGC -3'
(R):5'- CGATCTGGACAAGTCTGTGGC -3'
Posted On2018-06-06