Incidental Mutation 'IGL01370:Plekho2'
ID76089
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plekho2
Ensembl Gene ENSMUSG00000050721
Gene Namepleckstrin homology domain containing, family O member 2
SynonymsPlekhq1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.076) question?
Stock #IGL01370
Quality Score
Status
Chromosome9
Chromosomal Location65552698-65580040 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 65558630 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Asparagine at position 159 (H159N)
Ref Sequence ENSEMBL: ENSMUSP00000063677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068944]
Predicted Effect probably damaging
Transcript: ENSMUST00000068944
AA Change: H159N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063677
Gene: ENSMUSG00000050721
AA Change: H159N

DomainStartEndE-ValueType
PH 19 122 3.15e-11 SMART
low complexity region 141 157 N/A INTRINSIC
low complexity region 278 289 N/A INTRINSIC
low complexity region 305 313 N/A INTRINSIC
low complexity region 324 335 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213554
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213652
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214740
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T A 3: 36,947,755 I1283N probably benign Het
Adck1 A T 12: 88,456,733 probably benign Het
Add1 C T 5: 34,630,515 T210I probably damaging Het
Alpk2 A T 18: 65,350,591 D115E possibly damaging Het
Ankrd36 C T 11: 5,584,019 T290I probably benign Het
Ccnt2 T C 1: 127,803,513 F709S possibly damaging Het
Erc1 T C 6: 119,824,465 E197G probably damaging Het
Ftsj3 G T 11: 106,252,319 R390S possibly damaging Het
Gabrb3 G A 7: 57,816,478 A347T probably benign Het
Gatsl2 T C 5: 134,138,272 V323A probably benign Het
Gde1 A G 7: 118,689,160 probably benign Het
Gm996 T C 2: 25,578,957 E314G possibly damaging Het
Jhy A T 9: 40,917,142 N489K probably benign Het
Kiss1r A G 10: 79,918,824 T51A probably benign Het
Lama5 T C 2: 180,197,400 S772G possibly damaging Het
Lamb2 G T 9: 108,487,733 probably null Het
Loxl3 A G 6: 83,049,487 T475A probably damaging Het
Lpl A T 8: 68,887,568 S72C possibly damaging Het
Lrrc74a A T 12: 86,754,430 I352F probably damaging Het
Mcoln2 T C 3: 146,181,830 I334T possibly damaging Het
Mettl8 T G 2: 70,982,039 D49A probably damaging Het
Ms4a3 T A 19: 11,632,881 T106S probably benign Het
Obscn T A 11: 58,995,563 probably null Het
Olfr108 C A 17: 37,445,714 H64Q probably benign Het
Olfr113 T C 17: 37,574,521 I301V probably null Het
Olfr1461 A T 19: 13,165,299 Y95F possibly damaging Het
Olfr406 G A 11: 74,269,499 V37I probably benign Het
Olfr732 G T 14: 50,282,232 T7K probably damaging Het
Pcnx2 T C 8: 125,801,483 K1333E probably damaging Het
Pias3 T C 3: 96,703,575 F364L probably damaging Het
Piezo2 T A 18: 63,022,460 I2438F probably damaging Het
Plcb3 A C 19: 6,962,824 V465G probably damaging Het
Polr2e A G 10: 80,036,847 probably benign Het
Rab6b G T 9: 103,163,895 V163L probably benign Het
Rabep1 A G 11: 70,925,781 M597V probably benign Het
Rbm15 A G 3: 107,331,010 S691P probably damaging Het
Sec24b G A 3: 130,007,604 probably benign Het
Slc6a18 A G 13: 73,667,031 I386T probably damaging Het
Stxbp3 A C 3: 108,797,425 Y497* probably null Het
Styk1 T C 6: 131,301,652 K353R probably damaging Het
Tbc1d10b A T 7: 127,199,081 H629Q probably damaging Het
Tbc1d5 T A 17: 50,966,727 I119F probably benign Het
Tcp11l1 G T 2: 104,706,486 D11E probably benign Het
Tfap2d A G 1: 19,104,785 Y154C probably damaging Het
Tgm5 T C 2: 121,053,537 N325S probably benign Het
Thbs2 T C 17: 14,690,065 K91E possibly damaging Het
Vmn2r26 T A 6: 124,061,756 F763L probably benign Het
Washc4 A G 10: 83,558,830 E308G probably damaging Het
Xpot C A 10: 121,604,494 A611S probably benign Het
Other mutations in Plekho2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02938:Plekho2 APN 9 65558620 missense possibly damaging 0.88
IGL03354:Plekho2 APN 9 65559421 missense probably null 1.00
IGL03369:Plekho2 APN 9 65559494 missense probably damaging 1.00
R0108:Plekho2 UTSW 9 65559423 missense probably damaging 1.00
R0419:Plekho2 UTSW 9 65557052 missense possibly damaging 0.79
R0930:Plekho2 UTSW 9 65556823 missense possibly damaging 0.93
R1981:Plekho2 UTSW 9 65558692 missense probably damaging 1.00
R5308:Plekho2 UTSW 9 65558675 missense probably damaging 0.97
R5650:Plekho2 UTSW 9 65556736 missense probably benign 0.02
R6529:Plekho2 UTSW 9 65573101 missense probably benign 0.03
R6741:Plekho2 UTSW 9 65563915 missense probably damaging 1.00
R7138:Plekho2 UTSW 9 65556353 missense not run
Posted On2013-10-07