Incidental Mutation 'IGL02716:Phldb2'
ID304752
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phldb2
Ensembl Gene ENSMUSG00000033149
Gene Namepleckstrin homology like domain, family B, member 2
SynonymsLL5b, LL5beta, C820004H04Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02716
Quality Score
Status
Chromosome16
Chromosomal Location45746243-45953598 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 45801590 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 676 (S676P)
Ref Sequence ENSEMBL: ENSMUSP00000123284 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036355] [ENSMUST00000076333] [ENSMUST00000134802]
Predicted Effect probably damaging
Transcript: ENSMUST00000036355
AA Change: S631P

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000046496
Gene: ENSMUSG00000033149
AA Change: S631P

DomainStartEndE-ValueType
low complexity region 267 283 N/A INTRINSIC
low complexity region 426 447 N/A INTRINSIC
coiled coil region 580 692 N/A INTRINSIC
coiled coil region 724 800 N/A INTRINSIC
coiled coil region 1027 1097 N/A INTRINSIC
PH 1140 1244 6.45e-17 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000076333
AA Change: S631P

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000075672
Gene: ENSMUSG00000033149
AA Change: S631P

DomainStartEndE-ValueType
low complexity region 267 283 N/A INTRINSIC
low complexity region 426 447 N/A INTRINSIC
coiled coil region 580 692 N/A INTRINSIC
coiled coil region 724 800 N/A INTRINSIC
low complexity region 901 913 N/A INTRINSIC
coiled coil region 1080 1150 N/A INTRINSIC
PH 1193 1297 6.45e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131003
SMART Domains Protein: ENSMUSP00000119718
Gene: ENSMUSG00000033149

DomainStartEndE-ValueType
coiled coil region 1 55 N/A INTRINSIC
coiled coil region 87 163 N/A INTRINSIC
coiled coil region 342 412 N/A INTRINSIC
PH 456 560 6.45e-17 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000134802
AA Change: S676P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123284
Gene: ENSMUSG00000033149
AA Change: S676P

DomainStartEndE-ValueType
low complexity region 20 28 N/A INTRINSIC
low complexity region 312 328 N/A INTRINSIC
low complexity region 471 492 N/A INTRINSIC
coiled coil region 625 737 N/A INTRINSIC
coiled coil region 769 845 N/A INTRINSIC
coiled coil region 1072 1131 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 T C 11: 54,327,276 S212P probably benign Het
Ago2 C T 15: 73,111,727 R711Q possibly damaging Het
Akp3 A C 1: 87,125,479 D91A probably damaging Het
Arhgap12 T A 18: 6,111,857 Q169L possibly damaging Het
Aspm A G 1: 139,479,687 Y2104C probably damaging Het
Baz2b G A 2: 59,962,524 S420L possibly damaging Het
Cenpo T C 12: 4,215,390 N210S possibly damaging Het
Chadl T C 15: 81,695,915 N40D probably damaging Het
Crebbp T C 16: 4,114,878 E586G probably benign Het
Cts7 T A 13: 61,356,608 Q47L probably benign Het
Cyp2c40 C A 19: 39,807,536 D133Y possibly damaging Het
Dnah3 A T 7: 119,937,023 M3679K probably damaging Het
Dym T C 18: 75,286,683 Y642H probably damaging Het
Efr3b T C 12: 3,984,627 D65G probably damaging Het
Elmo1 T A 13: 20,449,502 F445I probably damaging Het
Epdr1 C T 13: 19,594,570 V119M probably benign Het
Epha4 G T 1: 77,380,965 R799S probably damaging Het
Esyt3 A T 9: 99,317,224 V778E probably damaging Het
F10 A T 8: 13,048,177 K127* probably null Het
Fcgbp G A 7: 28,101,434 E1302K probably damaging Het
Fer1l4 A G 2: 156,029,715 F1382L probably damaging Het
Fhad1 T C 4: 141,918,331 I318V possibly damaging Het
Fscn2 A T 11: 120,366,724 T304S probably benign Het
Gab1 A T 8: 80,769,694 L659Q probably damaging Het
Gm4845 A C 1: 141,256,838 noncoding transcript Het
Gm572 A G 4: 148,654,870 M52V probably benign Het
Hmgcr T C 13: 96,660,012 probably null Het
Kcnk5 T C 14: 20,181,428 T9A probably damaging Het
Krt87 A C 15: 101,434,604 F243V possibly damaging Het
Mast1 G T 8: 84,935,723 P52Q probably damaging Het
Mcf2l A T 8: 12,997,277 Q211L probably benign Het
Mtus2 C A 5: 148,236,310 P968T probably benign Het
Mylk2 T C 2: 152,922,153 *614R probably null Het
Myo15b A T 11: 115,883,709 E2049V probably benign Het
Myo6 A T 9: 80,269,694 H581L probably damaging Het
Numb A T 12: 83,801,208 S241T possibly damaging Het
Olfr1265 G T 2: 90,037,794 V292L probably benign Het
Olfr1283 A T 2: 111,368,781 I50F probably benign Het
Olfr338 A G 2: 36,377,343 D189G possibly damaging Het
Rttn G A 18: 89,048,417 E1196K possibly damaging Het
Skiv2l2 T G 13: 112,883,146 D810A probably benign Het
Slc13a3 G A 2: 165,406,715 P548S unknown Het
Slc2a7 A G 4: 150,160,010 probably benign Het
Slc37a1 T C 17: 31,328,161 S261P possibly damaging Het
Spryd3 T A 15: 102,133,461 Y42F possibly damaging Het
Srrm3 A G 5: 135,854,433 probably null Het
Stambp G A 6: 83,556,390 T297I probably damaging Het
Sypl T A 12: 32,967,669 Y129N probably damaging Het
Syt14 G A 1: 192,980,535 P368S possibly damaging Het
Tas2r122 T C 6: 132,711,264 D222G probably damaging Het
Tead2 C A 7: 45,232,296 Y79* probably null Het
Tmem251 A G 12: 102,744,829 T104A probably benign Het
Uso1 T C 5: 92,173,935 V229A probably damaging Het
Vmn1r238 A G 18: 3,123,124 S97P probably damaging Het
Vmn2r82 T A 10: 79,377,844 V88D probably benign Het
Vps29 A G 5: 122,362,066 T85A probably benign Het
Wdr90 T A 17: 25,857,220 S500C probably damaging Het
Zfp958 G A 8: 4,625,967 probably null Het
Other mutations in Phldb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00321:Phldb2 APN 16 45772254 missense probably damaging 1.00
IGL00485:Phldb2 APN 16 45757188 missense possibly damaging 0.75
IGL00544:Phldb2 APN 16 45825311 missense probably damaging 1.00
IGL00547:Phldb2 APN 16 45825535 missense probably benign 0.00
IGL00835:Phldb2 APN 16 45751456 missense probably damaging 1.00
IGL00987:Phldb2 APN 16 45763102 missense possibly damaging 0.78
IGL01102:Phldb2 APN 16 45825060 missense probably damaging 1.00
IGL01530:Phldb2 APN 16 45802729 missense probably damaging 1.00
IGL01549:Phldb2 APN 16 45774318 missense probably benign 0.00
IGL01712:Phldb2 APN 16 45751429 missense probably damaging 1.00
IGL01755:Phldb2 APN 16 45825582 missense probably damaging 0.96
IGL01823:Phldb2 APN 16 45825144 missense probably damaging 0.97
IGL02353:Phldb2 APN 16 45748779 missense probably damaging 1.00
IGL02360:Phldb2 APN 16 45748779 missense probably damaging 1.00
R0139:Phldb2 UTSW 16 45770666 splice site probably benign
R0312:Phldb2 UTSW 16 45789047 missense probably damaging 1.00
R0379:Phldb2 UTSW 16 45781451 missense probably damaging 1.00
R0535:Phldb2 UTSW 16 45757127 missense probably damaging 1.00
R1387:Phldb2 UTSW 16 45825994 missense possibly damaging 0.69
R1444:Phldb2 UTSW 16 45757253 splice site probably benign
R1487:Phldb2 UTSW 16 45789024 missense probably damaging 1.00
R1501:Phldb2 UTSW 16 45777783 missense probably damaging 1.00
R1605:Phldb2 UTSW 16 45770779 splice site probably benign
R1716:Phldb2 UTSW 16 45775050 missense probably benign 0.01
R1732:Phldb2 UTSW 16 45757166 missense probably damaging 1.00
R1779:Phldb2 UTSW 16 45801625 missense probably damaging 1.00
R1824:Phldb2 UTSW 16 45826011 missense probably benign 0.14
R2001:Phldb2 UTSW 16 45774195 missense possibly damaging 0.66
R2066:Phldb2 UTSW 16 45770758 missense probably damaging 1.00
R2122:Phldb2 UTSW 16 45762941 missense probably damaging 0.99
R2448:Phldb2 UTSW 16 45825363 missense probably damaging 1.00
R2932:Phldb2 UTSW 16 45748785 missense possibly damaging 0.85
R3076:Phldb2 UTSW 16 45825010 missense probably benign 0.00
R3078:Phldb2 UTSW 16 45825010 missense probably benign 0.00
R3779:Phldb2 UTSW 16 45748755 missense probably damaging 1.00
R3914:Phldb2 UTSW 16 45757163 missense probably damaging 1.00
R4536:Phldb2 UTSW 16 45770681 missense probably benign 0.04
R4568:Phldb2 UTSW 16 45777718 nonsense probably null
R4798:Phldb2 UTSW 16 45825874 missense probably damaging 1.00
R4853:Phldb2 UTSW 16 45802716 missense probably damaging 0.99
R4906:Phldb2 UTSW 16 45751395 missense probably damaging 1.00
R4984:Phldb2 UTSW 16 45825633 missense probably damaging 1.00
R5078:Phldb2 UTSW 16 45777742 missense possibly damaging 0.85
R5137:Phldb2 UTSW 16 45808258 missense possibly damaging 0.85
R5237:Phldb2 UTSW 16 45747886 missense probably damaging 0.99
R5410:Phldb2 UTSW 16 45825612 missense possibly damaging 0.77
R5825:Phldb2 UTSW 16 45763097 missense probably benign 0.11
R5874:Phldb2 UTSW 16 45801625 missense probably damaging 1.00
R5907:Phldb2 UTSW 16 45825188 missense probably damaging 1.00
R6332:Phldb2 UTSW 16 45774246 missense probably benign
R6354:Phldb2 UTSW 16 45825114 missense probably damaging 1.00
R6355:Phldb2 UTSW 16 45825338 missense probably damaging 0.99
R6383:Phldb2 UTSW 16 45748750 missense probably damaging 1.00
R6463:Phldb2 UTSW 16 45774993 missense probably benign 0.37
R6513:Phldb2 UTSW 16 45747877 missense possibly damaging 0.96
R6593:Phldb2 UTSW 16 45825427 nonsense probably null
R6756:Phldb2 UTSW 16 45808320 missense probably benign 0.02
R6810:Phldb2 UTSW 16 45748725 critical splice donor site probably null
R6897:Phldb2 UTSW 16 45777775 missense probably damaging 1.00
R7010:Phldb2 UTSW 16 45751505 missense probably damaging 0.99
R7142:Phldb2 UTSW 16 45757176 nonsense probably null
R7149:Phldb2 UTSW 16 45751532 nonsense probably null
R7249:Phldb2 UTSW 16 45801614 missense probably damaging 1.00
R7300:Phldb2 UTSW 16 45825562 missense probably damaging 1.00
R7328:Phldb2 UTSW 16 45758209 critical splice acceptor site probably null
R7515:Phldb2 UTSW 16 45774240 missense possibly damaging 0.90
R7840:Phldb2 UTSW 16 45751364 missense probably damaging 1.00
R7988:Phldb2 UTSW 16 45825571 missense probably benign 0.03
R8159:Phldb2 UTSW 16 45860384 missense possibly damaging 0.82
R8353:Phldb2 UTSW 16 45825022 missense probably benign 0.00
R8453:Phldb2 UTSW 16 45825022 missense probably benign 0.00
RF008:Phldb2 UTSW 16 45762974 missense probably damaging 1.00
Z1176:Phldb2 UTSW 16 45825826 missense probably benign 0.43
Z1176:Phldb2 UTSW 16 45825827 missense probably benign 0.04
Z1176:Phldb2 UTSW 16 45953508 unclassified probably benign
Posted On2015-04-16