Incidental Mutation 'IGL03354:Plekho2'
ID419839
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: 0.126) question?
Stock #IGL03354
Quality Score
Status
Chromosome9
Chromosomal Location65552698-65580040 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 65559421 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 129 (E129G)
Ref Sequence ENSEMBL: ENSMUSP00000063677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068944]
Predicted Effect probably null
Transcript: ENSMUST00000068944
AA Change: E129G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063677
Gene: ENSMUSG00000050721
AA Change: E129G

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik G A 5: 138,646,779 A309T possibly damaging Het
Abca15 C A 7: 120,394,488 Y1310* probably null Het
Adad1 G T 3: 37,106,173 C552F probably damaging Het
Adam22 A G 5: 8,158,890 S180P possibly damaging Het
Anxa10 A T 8: 62,096,744 D22E probably damaging Het
Astn1 T C 1: 158,688,604 S1255P probably damaging Het
Bhlhe41 T C 6: 145,864,203 T92A probably damaging Het
Bicc1 G A 10: 70,946,602 P603S probably benign Het
Camk2d T C 3: 126,796,966 probably null Het
Ccdc136 T A 6: 29,419,103 I808N probably damaging Het
Cd200r3 C T 16: 44,953,597 A124V possibly damaging Het
Cfap70 T C 14: 20,431,982 E310G probably damaging Het
Cyp2d12 A T 15: 82,558,961 D357V probably damaging Het
Dnah7b G A 1: 46,085,689 V173I probably damaging Het
Dnajb4 T A 3: 152,186,478 E239D probably benign Het
Dzip1 G A 14: 118,912,569 probably benign Het
Emp2 A G 16: 10,285,565 I74T probably damaging Het
Ermn T G 2: 58,052,622 E32A probably benign Het
F10 C A 8: 13,045,089 T82N probably benign Het
Fam227a T C 15: 79,636,750 D295G possibly damaging Het
Gm527 T A 12: 64,922,380 F194I probably damaging Het
Gmcl1 G A 6: 86,726,158 T98M probably damaging Het
Gucy2g T C 19: 55,233,080 R330G possibly damaging Het
Hist1h1e C T 13: 23,622,077 probably benign Het
Kif1a T C 1: 93,060,235 H549R probably damaging Het
Klhl14 T A 18: 21,651,728 D214V probably damaging Het
Lipo2 A G 19: 33,730,870 F248S probably benign Het
Mctp2 C T 7: 72,161,244 V661I probably benign Het
Myh15 A T 16: 49,172,010 M1616L probably benign Het
Nlrp4b A T 7: 10,714,538 I223F probably damaging Het
Olfr1133 T C 2: 87,645,595 N176S probably damaging Het
Olfr1367 T C 13: 21,347,516 V196A possibly damaging Het
Olfr1368 T C 13: 21,142,484 Y191C probably damaging Het
Olfr140 A C 2: 90,051,567 C252W probably damaging Het
Olfr347 A T 2: 36,734,512 S64C possibly damaging Het
Olfr347 G T 2: 36,734,513 S64I possibly damaging Het
Olfr508 T A 7: 108,630,528 C179S possibly damaging Het
Olfr706 A G 7: 106,886,100 V239A probably benign Het
Pcsk4 T C 10: 80,326,059 D116G probably damaging Het
Pibf1 A G 14: 99,150,738 D440G probably benign Het
Ptgds T C 2: 25,469,610 T22A probably benign Het
Rars A G 11: 35,824,475 L248P probably damaging Het
Ruvbl1 C A 6: 88,479,215 Y90* probably null Het
Schip1 A G 3: 68,494,965 D125G possibly damaging Het
Smarca2 T C 19: 26,619,903 S62P probably benign Het
Sort1 T C 3: 108,348,706 V656A probably benign Het
Tlr12 A G 4: 128,615,937 L840P probably damaging Het
Trpm3 T A 19: 22,856,718 I438N probably damaging Het
Ttc37 T C 13: 76,182,822 V1457A possibly damaging Het
Wdr11 C A 7: 129,625,302 F829L probably benign Het
Zdhhc11 A T 13: 73,979,145 I214F possibly damaging Het
Other mutations in Plekho2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01370:Plekho2 APN 9 65558630 missense probably damaging 1.00
IGL02938:Plekho2 APN 9 65558620 missense possibly damaging 0.88
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 probably benign 0.01
R7684:Plekho2 UTSW 9 65559534 splice site probably null
Posted On2016-08-02