Incidental Mutation 'IGL03369:Plekho2'
ID420219
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: 0.108) question?
Stock #IGL03369
Quality Score
Status
Chromosome9
Chromosomal Location65552698-65580040 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 65559494 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Tryptophan at position 105 (G105W)
Ref Sequence ENSEMBL: ENSMUSP00000063677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068944]
Predicted Effect probably damaging
Transcript: ENSMUST00000068944
AA Change: G105W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063677
Gene: ENSMUSG00000050721
AA Change: G105W

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013D24Rik T C 6: 124,356,421 N72S possibly damaging Het
A2m G A 6: 121,676,903 probably null Het
Angptl3 A T 4: 99,034,820 probably benign Het
Aox4 A G 1: 58,262,587 D1106G probably benign Het
Capn13 G A 17: 73,341,154 probably benign Het
Cep250 A G 2: 155,990,271 H1371R probably benign Het
Chrna1 A T 2: 73,570,445 F247Y probably benign Het
Col2a1 T C 15: 97,982,042 T813A unknown Het
Dab2 T C 15: 6,435,309 V414A possibly damaging Het
Dach2 T C X: 113,556,240 probably benign Het
Fap A G 2: 62,503,355 probably benign Het
Fgd5 T A 6: 91,988,415 V385D probably damaging Het
Fmnl1 A G 11: 103,197,182 probably null Het
Gm8765 G T 13: 50,703,164 C946F possibly damaging Het
Gorasp2 G A 2: 70,682,992 G201D probably damaging Het
Gp2 T A 7: 119,451,560 Q316L probably damaging Het
Gpx8 T C 13: 113,043,162 I202V probably damaging Het
Gsta3 A G 1: 21,264,949 K218R probably benign Het
Lama3 C T 18: 12,553,283 T1195I probably benign Het
Map3k12 T C 15: 102,502,079 R488G possibly damaging Het
Mapt A T 11: 104,282,433 Y18F probably damaging Het
Med21 T C 6: 146,642,645 V12A probably benign Het
Mgat4b A G 11: 50,234,109 E457G possibly damaging Het
Mybl1 T A 1: 9,672,555 K609N probably damaging Het
Ncaph2 T G 15: 89,363,655 V75G probably benign Het
Neb A G 2: 52,178,037 Y5795H probably benign Het
Nup153 A G 13: 46,700,983 probably null Het
Olfr220 T A 1: 174,448,869 I82N probably damaging Het
Olfr811 T C 10: 129,802,471 D18G probably damaging Het
Plekhf2 G T 4: 10,990,703 T213K probably benign Het
Polr3b G A 10: 84,676,952 G566D probably damaging Het
Rasgrf1 T C 9: 90,010,451 I1068T probably damaging Het
Rnf213 A T 11: 119,421,468 E907V probably benign Het
Runx1t1 C T 4: 13,881,107 S469F probably damaging Het
Top1 A T 2: 160,693,727 D182V unknown Het
Uckl1 T C 2: 181,570,189 T375A probably benign Het
Usp53 A T 3: 122,933,721 probably benign Het
Vmn2r61 T A 7: 42,260,093 I14N probably benign Het
Wbp4 A T 14: 79,470,118 N184K probably 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
IGL03354:Plekho2 APN 9 65559421 missense probably null 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
Posted On2016-08-02