Incidental Mutation 'IGL00391:Plekha2'
ID5052
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plekha2
Ensembl Gene ENSMUSG00000031557
Gene Namepleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 2
Synonyms6430512N22Rik, TAPP2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00391
Quality Score
Status
Chromosome8
Chromosomal Location25039144-25102376 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 25057327 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 247 (V247A)
Ref Sequence ENSEMBL: ENSMUSP00000122564 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064883] [ENSMUST00000098866] [ENSMUST00000128715]
Predicted Effect probably damaging
Transcript: ENSMUST00000064883
AA Change: V247A

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000066546
Gene: ENSMUSG00000031557
AA Change: V247A

DomainStartEndE-ValueType
PH 8 115 3.11e-10 SMART
PH 199 300 1.91e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000098866
AA Change: V247A

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000096464
Gene: ENSMUSG00000031557
AA Change: V247A

DomainStartEndE-ValueType
PH 8 115 3.11e-10 SMART
PH 199 300 1.91e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000128715
AA Change: V247A

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000122564
Gene: ENSMUSG00000031557
AA Change: V247A

DomainStartEndE-ValueType
PH 8 115 3.11e-10 SMART
PH 199 300 1.91e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211708
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-in allele are viable. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 G A 5: 81,724,224 V990M probably damaging Het
Ap4b1 A G 3: 103,821,542 T499A probably benign Het
Cacna2d4 T C 6: 119,337,933 probably benign Het
Ccr5 T A 9: 124,124,406 D15E possibly damaging Het
Clca4b A G 3: 144,915,561 V584A possibly damaging Het
Cmtr1 T C 17: 29,674,262 M85T probably damaging Het
Col6a3 T A 1: 90,828,255 H104L probably damaging Het
Coq9 A T 8: 94,850,517 K170M probably damaging Het
Elmod1 A G 9: 53,924,398 probably null Het
Fam47e A C 5: 92,579,663 E143D probably damaging Het
Faxc A G 4: 21,948,725 K146E probably damaging Het
Gm5346 A T 8: 43,625,629 F519L probably damaging Het
Hrasls5 A T 19: 7,619,266 probably benign Het
Myo7b A C 18: 32,021,556 probably benign Het
Nmur1 G A 1: 86,386,471 R381C probably damaging Het
Nsd2 T G 5: 33,855,733 D469E probably damaging Het
Osbpl6 G A 2: 76,590,439 C786Y probably damaging Het
Osgin2 T C 4: 16,006,439 Y85C probably damaging Het
Otof A G 5: 30,375,623 C1587R probably damaging Het
Plppr5 A T 3: 117,671,943 N281I possibly damaging Het
Popdc3 A G 10: 45,317,826 probably null Het
Ppp1r12a A G 10: 108,198,848 N85D probably damaging Het
Serpinb8 A G 1: 107,606,984 S262G probably benign Het
Sspo G A 6: 48,497,386 G4780R probably damaging Het
Ush2a A G 1: 188,916,061 E4621G probably damaging Het
Other mutations in Plekha2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02123:Plekha2 APN 8 25042729 missense probably damaging 1.00
abstruse UTSW 8 25088391 missense probably damaging 1.00
Byzantine UTSW 8 25088395 missense probably damaging 1.00
Complexity UTSW 8 25057298 missense probably damaging 1.00
Elaborate UTSW 8 25043047 splice site probably null
R1178:Plekha2 UTSW 8 25059202 missense probably benign 0.26
R1181:Plekha2 UTSW 8 25059202 missense probably benign 0.26
R1668:Plekha2 UTSW 8 25072054 missense probably damaging 0.98
R1722:Plekha2 UTSW 8 25042960 missense probably benign 0.02
R2153:Plekha2 UTSW 8 25088397 missense probably damaging 1.00
R4223:Plekha2 UTSW 8 25043020 missense probably damaging 1.00
R4585:Plekha2 UTSW 8 25043669 nonsense probably null
R4604:Plekha2 UTSW 8 25059835 missense probably null 1.00
R4791:Plekha2 UTSW 8 25042762 missense probably damaging 1.00
R4817:Plekha2 UTSW 8 25059944 missense possibly damaging 0.94
R5344:Plekha2 UTSW 8 25043047 splice site probably null
R5670:Plekha2 UTSW 8 25059238 missense probably benign 0.03
R5892:Plekha2 UTSW 8 25052365 missense probably benign
R6440:Plekha2 UTSW 8 25088397 missense probably damaging 1.00
R6970:Plekha2 UTSW 8 25059264 missense probably benign 0.00
R7157:Plekha2 UTSW 8 25063941 missense probably damaging 1.00
R7242:Plekha2 UTSW 8 25088395 missense probably damaging 1.00
R7674:Plekha2 UTSW 8 25057298 missense probably damaging 1.00
R7810:Plekha2 UTSW 8 25088340 critical splice donor site probably null
R8048:Plekha2 UTSW 8 25063989 splice site probably benign
R8359:Plekha2 UTSW 8 25088391 missense probably damaging 1.00
X0027:Plekha2 UTSW 8 25057303 missense probably damaging 0.99
Posted On2012-04-20