Incidental Mutation 'IGL01530:Phldb2'
ID 89707
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phldb2
Ensembl Gene ENSMUSG00000033149
Gene Name pleckstrin homology like domain, family B, member 2
Synonyms LL5b, C820004H04Rik, LL5beta
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01530
Quality Score
Status
Chromosome 16
Chromosomal Location 45566606-45773961 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 45623092 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 651 (D651E)
Ref Sequence ENSEMBL: ENSMUSP00000123284 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036355] [ENSMUST00000076333] [ENSMUST00000134802]
AlphaFold Q8K1N2
Predicted Effect probably damaging
Transcript: ENSMUST00000036355
AA Change: D606E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000046496
Gene: ENSMUSG00000033149
AA Change: D606E

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: D606E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000075672
Gene: ENSMUSG00000033149
AA Change: D606E

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: D651E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123284
Gene: ENSMUSG00000033149
AA Change: D651E

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 G A 14: 54,881,443 (GRCm39) R1117W probably damaging Het
Acox2 T G 14: 8,246,363 (GRCm38) Y476S probably damaging Het
Arl6ip5 G A 6: 97,187,785 (GRCm39) D2N possibly damaging Het
Ces2h A G 8: 105,741,116 (GRCm39) H36R probably benign Het
Cfap44 C A 16: 44,269,530 (GRCm39) A1178E probably damaging Het
Clmn T A 12: 104,758,115 (GRCm39) I134F probably damaging Het
Col6a5 A G 9: 105,792,385 (GRCm39) probably benign Het
Csmd1 C T 8: 15,953,195 (GRCm39) E3429K probably damaging Het
Csmd2 A G 4: 128,308,094 (GRCm39) D1284G possibly damaging Het
Csmd3 C T 15: 47,701,833 (GRCm39) G1750E possibly damaging Het
Csmd3 T G 15: 47,533,013 (GRCm39) D2516A probably damaging Het
Depdc1a C T 3: 159,229,560 (GRCm39) H631Y probably damaging Het
Fat2 A T 11: 55,174,213 (GRCm39) S2167T probably benign Het
Flii G A 11: 60,611,008 (GRCm39) R474* probably null Het
Hmcn2 A C 2: 31,244,276 (GRCm39) D687A possibly damaging Het
Hrh4 A G 18: 13,149,004 (GRCm39) probably benign Het
Hsd3b5 G A 3: 98,526,439 (GRCm39) R336C probably damaging Het
Igkv5-39 T A 6: 69,877,459 (GRCm39) E79V probably damaging Het
Iqgap3 G A 3: 88,019,610 (GRCm39) probably null Het
Irak3 G A 10: 119,978,699 (GRCm39) S492F probably benign Het
Kif14 T A 1: 136,406,157 (GRCm39) probably benign Het
Kmt2c T C 5: 25,518,498 (GRCm39) I2394V probably benign Het
Lama1 C T 17: 68,103,785 (GRCm39) A2002V probably benign Het
Map3k19 T C 1: 127,749,841 (GRCm39) E1170G probably damaging Het
Mdn1 T C 4: 32,711,938 (GRCm39) probably benign Het
Mpo G T 11: 87,692,017 (GRCm39) M483I probably benign Het
Neu3 T C 7: 99,462,953 (GRCm39) S257G probably benign Het
Nhsl3 G A 4: 129,116,589 (GRCm39) probably null Het
Niban3 A T 8: 72,056,561 (GRCm39) probably benign Het
Nup214 A G 2: 31,923,733 (GRCm39) T1421A probably benign Het
Pbx1 T C 1: 168,018,873 (GRCm39) N324S probably benign Het
Pcbp2 T C 15: 102,392,601 (GRCm39) S5P probably benign Het
Pds5b A G 5: 150,715,640 (GRCm39) I511V probably benign Het
Pdzph1 C T 17: 59,229,710 (GRCm39) D983N probably damaging Het
Pkhd1 A G 1: 20,629,643 (GRCm39) probably null Het
Plxnb1 A G 9: 108,939,473 (GRCm39) D1406G probably benign Het
Rhebl1 T C 15: 98,777,367 (GRCm39) D65G probably damaging Het
Smpdl3a A G 10: 57,683,989 (GRCm39) H249R probably damaging Het
Sorbs1 T C 19: 40,365,091 (GRCm39) T231A probably benign Het
Tmem232 G A 17: 65,563,543 (GRCm39) Q617* probably null Het
Trim62 A G 4: 128,778,252 (GRCm39) D97G probably benign Het
Tsc2 T C 17: 24,841,636 (GRCm39) T328A possibly damaging Het
Ugt2b5 C T 5: 87,285,104 (GRCm39) V278I probably benign Het
Usp4 T C 9: 108,240,099 (GRCm39) probably null Het
Vdac3-ps1 C T 13: 18,206,091 (GRCm39) noncoding transcript Het
Wwc2 T A 8: 48,316,974 (GRCm39) R706S unknown Het
Xpot A C 10: 121,447,433 (GRCm39) I114S probably damaging Het
Zfp777 T A 6: 48,020,918 (GRCm39) S279C probably damaging Het
Other mutations in Phldb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00321:Phldb2 APN 16 45,592,617 (GRCm39) missense probably damaging 1.00
IGL00485:Phldb2 APN 16 45,577,551 (GRCm39) missense possibly damaging 0.75
IGL00544:Phldb2 APN 16 45,645,674 (GRCm39) missense probably damaging 1.00
IGL00547:Phldb2 APN 16 45,645,898 (GRCm39) missense probably benign 0.00
IGL00835:Phldb2 APN 16 45,571,819 (GRCm39) missense probably damaging 1.00
IGL00987:Phldb2 APN 16 45,583,465 (GRCm39) missense possibly damaging 0.78
IGL01102:Phldb2 APN 16 45,645,423 (GRCm39) missense probably damaging 1.00
IGL01549:Phldb2 APN 16 45,594,681 (GRCm39) missense probably benign 0.00
IGL01712:Phldb2 APN 16 45,571,792 (GRCm39) missense probably damaging 1.00
IGL01755:Phldb2 APN 16 45,645,945 (GRCm39) missense probably damaging 0.96
IGL01823:Phldb2 APN 16 45,645,507 (GRCm39) missense probably damaging 0.97
IGL02353:Phldb2 APN 16 45,569,142 (GRCm39) missense probably damaging 1.00
IGL02360:Phldb2 APN 16 45,569,142 (GRCm39) missense probably damaging 1.00
IGL02716:Phldb2 APN 16 45,621,953 (GRCm39) missense probably damaging 0.99
R0139:Phldb2 UTSW 16 45,591,029 (GRCm39) splice site probably benign
R0312:Phldb2 UTSW 16 45,609,410 (GRCm39) missense probably damaging 1.00
R0379:Phldb2 UTSW 16 45,601,814 (GRCm39) missense probably damaging 1.00
R0535:Phldb2 UTSW 16 45,577,490 (GRCm39) missense probably damaging 1.00
R1387:Phldb2 UTSW 16 45,646,357 (GRCm39) missense possibly damaging 0.69
R1444:Phldb2 UTSW 16 45,577,616 (GRCm39) splice site probably benign
R1487:Phldb2 UTSW 16 45,609,387 (GRCm39) missense probably damaging 1.00
R1501:Phldb2 UTSW 16 45,598,146 (GRCm39) missense probably damaging 1.00
R1605:Phldb2 UTSW 16 45,591,142 (GRCm39) splice site probably benign
R1716:Phldb2 UTSW 16 45,595,413 (GRCm39) missense probably benign 0.01
R1732:Phldb2 UTSW 16 45,577,529 (GRCm39) missense probably damaging 1.00
R1779:Phldb2 UTSW 16 45,621,988 (GRCm39) missense probably damaging 1.00
R1824:Phldb2 UTSW 16 45,646,374 (GRCm39) missense probably benign 0.14
R2001:Phldb2 UTSW 16 45,594,558 (GRCm39) missense possibly damaging 0.66
R2066:Phldb2 UTSW 16 45,591,121 (GRCm39) missense probably damaging 1.00
R2122:Phldb2 UTSW 16 45,583,304 (GRCm39) missense probably damaging 0.99
R2448:Phldb2 UTSW 16 45,645,726 (GRCm39) missense probably damaging 1.00
R2932:Phldb2 UTSW 16 45,569,148 (GRCm39) missense possibly damaging 0.85
R3076:Phldb2 UTSW 16 45,645,373 (GRCm39) missense probably benign 0.00
R3078:Phldb2 UTSW 16 45,645,373 (GRCm39) missense probably benign 0.00
R3779:Phldb2 UTSW 16 45,569,118 (GRCm39) missense probably damaging 1.00
R3914:Phldb2 UTSW 16 45,577,526 (GRCm39) missense probably damaging 1.00
R4536:Phldb2 UTSW 16 45,591,044 (GRCm39) missense probably benign 0.04
R4568:Phldb2 UTSW 16 45,598,081 (GRCm39) nonsense probably null
R4798:Phldb2 UTSW 16 45,646,237 (GRCm39) missense probably damaging 1.00
R4853:Phldb2 UTSW 16 45,623,079 (GRCm39) missense probably damaging 0.99
R4906:Phldb2 UTSW 16 45,571,758 (GRCm39) missense probably damaging 1.00
R4984:Phldb2 UTSW 16 45,645,996 (GRCm39) missense probably damaging 1.00
R5078:Phldb2 UTSW 16 45,598,105 (GRCm39) missense possibly damaging 0.85
R5137:Phldb2 UTSW 16 45,628,621 (GRCm39) missense possibly damaging 0.85
R5237:Phldb2 UTSW 16 45,568,249 (GRCm39) missense probably damaging 0.99
R5410:Phldb2 UTSW 16 45,645,975 (GRCm39) missense possibly damaging 0.77
R5825:Phldb2 UTSW 16 45,583,460 (GRCm39) missense probably benign 0.11
R5874:Phldb2 UTSW 16 45,621,988 (GRCm39) missense probably damaging 1.00
R5907:Phldb2 UTSW 16 45,645,551 (GRCm39) missense probably damaging 1.00
R6332:Phldb2 UTSW 16 45,594,609 (GRCm39) missense probably benign
R6354:Phldb2 UTSW 16 45,645,477 (GRCm39) missense probably damaging 1.00
R6355:Phldb2 UTSW 16 45,645,701 (GRCm39) missense probably damaging 0.99
R6383:Phldb2 UTSW 16 45,569,113 (GRCm39) missense probably damaging 1.00
R6463:Phldb2 UTSW 16 45,595,356 (GRCm39) missense probably benign 0.37
R6513:Phldb2 UTSW 16 45,568,240 (GRCm39) missense possibly damaging 0.96
R6593:Phldb2 UTSW 16 45,645,790 (GRCm39) nonsense probably null
R6756:Phldb2 UTSW 16 45,628,683 (GRCm39) missense probably benign 0.02
R6810:Phldb2 UTSW 16 45,569,088 (GRCm39) critical splice donor site probably null
R6897:Phldb2 UTSW 16 45,598,138 (GRCm39) missense probably damaging 1.00
R7010:Phldb2 UTSW 16 45,571,868 (GRCm39) missense probably damaging 0.99
R7142:Phldb2 UTSW 16 45,577,539 (GRCm39) nonsense probably null
R7149:Phldb2 UTSW 16 45,571,895 (GRCm39) nonsense probably null
R7249:Phldb2 UTSW 16 45,621,977 (GRCm39) missense probably damaging 1.00
R7300:Phldb2 UTSW 16 45,645,925 (GRCm39) missense probably damaging 1.00
R7328:Phldb2 UTSW 16 45,578,572 (GRCm39) critical splice acceptor site probably null
R7515:Phldb2 UTSW 16 45,594,603 (GRCm39) missense possibly damaging 0.90
R7840:Phldb2 UTSW 16 45,571,727 (GRCm39) missense probably damaging 1.00
R7988:Phldb2 UTSW 16 45,645,934 (GRCm39) missense probably benign 0.03
R8159:Phldb2 UTSW 16 45,680,747 (GRCm39) missense possibly damaging 0.82
R8353:Phldb2 UTSW 16 45,645,385 (GRCm39) missense probably benign 0.00
R8453:Phldb2 UTSW 16 45,645,385 (GRCm39) missense probably benign 0.00
R8969:Phldb2 UTSW 16 45,592,496 (GRCm39) critical splice donor site probably null
R9058:Phldb2 UTSW 16 45,592,604 (GRCm39) missense possibly damaging 0.88
R9106:Phldb2 UTSW 16 45,680,757 (GRCm39) missense probably benign 0.05
R9278:Phldb2 UTSW 16 45,646,308 (GRCm39) missense probably damaging 0.99
R9324:Phldb2 UTSW 16 45,595,437 (GRCm39) missense probably damaging 0.99
R9563:Phldb2 UTSW 16 45,645,247 (GRCm39) missense possibly damaging 0.90
R9626:Phldb2 UTSW 16 45,592,547 (GRCm39) missense possibly damaging 0.93
R9712:Phldb2 UTSW 16 45,595,340 (GRCm39) missense probably benign 0.27
R9718:Phldb2 UTSW 16 45,601,756 (GRCm39) missense possibly damaging 0.67
RF008:Phldb2 UTSW 16 45,583,337 (GRCm39) missense probably damaging 1.00
Z1176:Phldb2 UTSW 16 45,773,871 (GRCm39) unclassified probably benign
Z1176:Phldb2 UTSW 16 45,646,190 (GRCm39) missense probably benign 0.04
Z1176:Phldb2 UTSW 16 45,646,189 (GRCm39) missense probably benign 0.43
Z1190:Phldb2 UTSW 16 45,645,697 (GRCm39) missense probably damaging 0.96
Posted On 2013-12-03