Incidental Mutation 'IGL02483:Plekhh2'
ID295287
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plekhh2
Ensembl Gene ENSMUSG00000040852
Gene Namepleckstrin homology domain containing, family H (with MyTH4 domain) member 2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.095) question?
Stock #IGL02483
Quality Score
Status
Chromosome17
Chromosomal Location84511895-84622142 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 84596260 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 1058 (F1058S)
Ref Sequence ENSEMBL: ENSMUSP00000039628 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047206]
Predicted Effect possibly damaging
Transcript: ENSMUST00000047206
AA Change: F1058S

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000039628
Gene: ENSMUSG00000040852
AA Change: F1058S

DomainStartEndE-ValueType
coiled coil region 19 84 N/A INTRINSIC
low complexity region 119 132 N/A INTRINSIC
coiled coil region 137 174 N/A INTRINSIC
low complexity region 427 442 N/A INTRINSIC
low complexity region 579 593 N/A INTRINSIC
low complexity region 612 651 N/A INTRINSIC
low complexity region 657 666 N/A INTRINSIC
PH 703 798 4.7e-19 SMART
PH 811 920 1.15e-4 SMART
MyTH4 954 1109 8.49e-39 SMART
B41 1116 1353 1.01e-27 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre5 T G 8: 83,725,253 I512L probably damaging Het
Ahnak C A 19: 9,003,308 T652N probably benign Het
Akr1b8 G A 6: 34,363,794 A209T probably damaging Het
Arnt2 T A 7: 84,251,397 H659L probably damaging Het
Cad A G 5: 31,060,826 probably null Het
Car6 T A 4: 150,196,129 N86I probably damaging Het
Cfap57 T A 4: 118,581,105 E863V probably damaging Het
Cyp2c39 T A 19: 39,536,787 I178N probably damaging Het
Cysltr1 C A X: 106,578,122 V253L probably damaging Het
Dgcr6 G A 16: 18,065,174 A6T possibly damaging Het
Dis3l T C 9: 64,319,080 probably null Het
Erc2 T A 14: 27,653,071 L82Q probably damaging Het
Ercc6l T C X: 102,144,669 T745A probably benign Het
Fam192a A G 8: 94,588,766 probably benign Het
Fmo4 A G 1: 162,808,421 V54A possibly damaging Het
Foxd3 C T 4: 99,657,028 S135F probably damaging Het
Fut7 T A 2: 25,423,876 F21Y possibly damaging Het
Gata4 T C 14: 63,200,461 T414A probably benign Het
Gm4950 A T 18: 51,865,334 M183K probably damaging Het
Gmps A G 3: 64,014,352 D592G probably damaging Het
Hpd A T 5: 123,182,578 probably null Het
Imp4 T C 1: 34,444,275 probably null Het
Itgbl1 A T 14: 123,827,743 probably benign Het
Kcnt2 T C 1: 140,354,561 probably benign Het
Kdr C T 5: 75,936,294 probably null Het
Lca5 A T 9: 83,423,117 I212N probably damaging Het
Lgr6 T C 1: 135,001,691 probably benign Het
Lrrc28 T C 7: 67,617,983 probably benign Het
Madd T G 2: 91,178,036 T174P probably damaging Het
Map3k8 A G 18: 4,349,318 probably benign Het
Mcm3 A G 1: 20,803,572 S775P possibly damaging Het
Myh10 G A 11: 68,802,168 A1393T probably benign Het
Nbas C T 12: 13,324,294 A541V probably damaging Het
Nbeal2 G A 9: 110,625,995 Q2578* probably null Het
Nlrp4f T A 13: 65,194,734 T366S probably benign Het
Olfr117 A G 17: 37,659,472 L287P probably damaging Het
Olfr1216 G T 2: 89,013,203 T287N probably damaging Het
Olfr1335 C T 4: 118,809,499 V122M probably benign Het
Oma1 C T 4: 103,325,112 R271* probably null Het
Psen2 T A 1: 180,235,061 M239L probably damaging Het
Rad50 A G 11: 53,680,049 I794T probably benign Het
Rgs12 A G 5: 35,030,517 E506G probably damaging Het
Rnpepl1 C T 1: 92,915,907 P250S probably damaging Het
Sfr1 G A 19: 47,732,788 probably benign Het
Tmem184a T C 5: 139,813,077 E39G probably benign Het
Trim66 C T 7: 109,477,630 probably benign Het
Ugt2b35 A G 5: 87,001,145 Y85C possibly damaging Het
Uts2r G T 11: 121,160,387 G26C possibly damaging Het
Vmn2r88 A T 14: 51,414,154 E308D probably benign Het
Wdr61 T C 9: 54,728,261 I19V probably damaging Het
Other mutations in Plekhh2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00430:Plekhh2 APN 17 84521775 missense probably benign 0.00
IGL00514:Plekhh2 APN 17 84596306 critical splice donor site probably null
IGL00773:Plekhh2 APN 17 84606868 missense probably benign 0.01
IGL00985:Plekhh2 APN 17 84563928 missense probably benign 0.00
IGL01116:Plekhh2 APN 17 84606928 missense possibly damaging 0.94
IGL01394:Plekhh2 APN 17 84557430 missense probably benign 0.24
IGL01419:Plekhh2 APN 17 84583552 splice site probably benign
IGL01932:Plekhh2 APN 17 84577261 missense probably benign 0.00
IGL02097:Plekhh2 APN 17 84599180 missense possibly damaging 0.69
IGL02157:Plekhh2 APN 17 84566942 splice site probably benign
IGL02163:Plekhh2 APN 17 84590795 missense probably benign 0.45
IGL02237:Plekhh2 APN 17 84575785 missense probably benign 0.00
IGL02322:Plekhh2 APN 17 84589466 nonsense probably null
IGL02422:Plekhh2 APN 17 84563809 splice site probably benign
IGL02493:Plekhh2 APN 17 84606963 critical splice donor site probably null
IGL03007:Plekhh2 APN 17 84574960 missense possibly damaging 0.65
R0003:Plekhh2 UTSW 17 84557392 missense probably damaging 1.00
R0005:Plekhh2 UTSW 17 84586433 missense probably benign 0.16
R0099:Plekhh2 UTSW 17 84591672 nonsense probably null
R0331:Plekhh2 UTSW 17 84586366 missense possibly damaging 0.81
R0883:Plekhh2 UTSW 17 84618031 missense probably benign 0.11
R1051:Plekhh2 UTSW 17 84521827 critical splice donor site probably null
R1084:Plekhh2 UTSW 17 84571126 missense probably damaging 0.99
R1351:Plekhh2 UTSW 17 84577146 splice site probably benign
R1459:Plekhh2 UTSW 17 84610775 nonsense probably null
R1469:Plekhh2 UTSW 17 84575771 missense probably benign 0.03
R1469:Plekhh2 UTSW 17 84575771 missense probably benign 0.03
R1510:Plekhh2 UTSW 17 84559576 splice site probably null
R1699:Plekhh2 UTSW 17 84577184 nonsense probably null
R1738:Plekhh2 UTSW 17 84566697 missense possibly damaging 0.67
R1773:Plekhh2 UTSW 17 84599265 missense probably damaging 1.00
R1796:Plekhh2 UTSW 17 84599133 critical splice acceptor site probably null
R1823:Plekhh2 UTSW 17 84575189 missense probably damaging 1.00
R1998:Plekhh2 UTSW 17 84606877 missense possibly damaging 0.58
R2437:Plekhh2 UTSW 17 84586479 splice site probably null
R2847:Plekhh2 UTSW 17 84597966 missense probably damaging 1.00
R4088:Plekhh2 UTSW 17 84617999 missense probably benign 0.10
R4227:Plekhh2 UTSW 17 84566795 missense probably benign 0.00
R4249:Plekhh2 UTSW 17 84586337 missense possibly damaging 0.93
R4347:Plekhh2 UTSW 17 84619702 missense probably benign 0.12
R4562:Plekhh2 UTSW 17 84566097 missense probably benign 0.00
R4649:Plekhh2 UTSW 17 84575263 missense probably damaging 1.00
R4737:Plekhh2 UTSW 17 84563959 missense probably benign
R4743:Plekhh2 UTSW 17 84571120 missense probably damaging 1.00
R4858:Plekhh2 UTSW 17 84600697 missense probably damaging 1.00
R5036:Plekhh2 UTSW 17 84571761 missense probably damaging 0.99
R5260:Plekhh2 UTSW 17 84577165 missense probably damaging 0.99
R5385:Plekhh2 UTSW 17 84557466 missense probably benign 0.00
R5409:Plekhh2 UTSW 17 84586478 critical splice donor site probably null
R5510:Plekhh2 UTSW 17 84566847 missense probably benign
R5557:Plekhh2 UTSW 17 84560152 missense probably benign 0.10
R5684:Plekhh2 UTSW 17 84597918 missense probably damaging 1.00
R5685:Plekhh2 UTSW 17 84569882 missense probably damaging 1.00
R5724:Plekhh2 UTSW 17 84566805 missense probably benign 0.00
R5742:Plekhh2 UTSW 17 84597980 missense probably damaging 1.00
R5817:Plekhh2 UTSW 17 84571726 missense possibly damaging 0.86
R6218:Plekhh2 UTSW 17 84591564 missense probably benign 0.03
R6334:Plekhh2 UTSW 17 84566866 missense probably benign
R6345:Plekhh2 UTSW 17 84575787 missense probably benign 0.01
R6617:Plekhh2 UTSW 17 84566287 missense possibly damaging 0.65
R6755:Plekhh2 UTSW 17 84591585 missense probably damaging 1.00
R6864:Plekhh2 UTSW 17 84617999 missense probably benign 0.10
R7171:Plekhh2 UTSW 17 84521788 missense probably damaging 0.96
R7413:Plekhh2 UTSW 17 84566296 missense probably benign 0.03
R7585:Plekhh2 UTSW 17 84577180 missense probably benign 0.11
R7640:Plekhh2 UTSW 17 84610776 missense possibly damaging 0.50
R7733:Plekhh2 UTSW 17 84583524 nonsense probably null
R7877:Plekhh2 UTSW 17 84575006 missense probably benign
R8085:Plekhh2 UTSW 17 84597956 missense probably damaging 0.98
R8206:Plekhh2 UTSW 17 84590849 missense possibly damaging 0.47
R8296:Plekhh2 UTSW 17 84600685 missense probably damaging 0.98
R8344:Plekhh2 UTSW 17 84571761 missense possibly damaging 0.64
R8438:Plekhh2 UTSW 17 84569951 missense probably benign
R8487:Plekhh2 UTSW 17 84557481 missense possibly damaging 0.55
R8708:Plekhh2 UTSW 17 84574993 missense probably benign 0.00
R8830:Plekhh2 UTSW 17 84521803 missense probably damaging 1.00
R8847:Plekhh2 UTSW 17 84571051 missense probably benign 0.00
R8918:Plekhh2 UTSW 17 84599193 missense possibly damaging 0.80
Posted On2015-04-16