Incidental Mutation 'R6383:Phldb2'
ID 515469
Institutional Source Beutler Lab
Gene Symbol Phldb2
Ensembl Gene ENSMUSG00000033149
Gene Name pleckstrin homology like domain, family B, member 2
Synonyms LL5b, C820004H04Rik, LL5beta
MMRRC Submission 044532-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6383 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 45566606-45773961 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 45569113 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 1249 (D1249N)
Ref Sequence ENSEMBL: ENSMUSP00000075672 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036355] [ENSMUST00000076333]
AlphaFold Q8K1N2
Predicted Effect probably damaging
Transcript: ENSMUST00000036355
AA Change: D1196N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046496
Gene: ENSMUSG00000033149
AA Change: D1196N

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: D1249N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075672
Gene: ENSMUSG00000033149
AA Change: D1249N

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 unknown
Transcript: ENSMUST00000131003
AA Change: D511N
SMART Domains Protein: ENSMUSP00000119718
Gene: ENSMUSG00000033149
AA Change: D511N

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 97% (73/75)
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,286,343 (GRCm39) M2497K probably benign Het
Abtb2 C T 2: 103,397,721 (GRCm39) T217I probably damaging Het
Adam29 T A 8: 56,324,543 (GRCm39) N637I probably damaging Het
Adgb T A 10: 10,325,772 (GRCm39) E59V probably damaging Het
Adh7 C T 3: 137,933,778 (GRCm39) R312C probably benign Het
Adprh A G 16: 38,267,814 (GRCm39) I157T probably damaging Het
Ap2b1 T C 11: 83,237,651 (GRCm39) S572P probably damaging Het
Asic1 T C 15: 99,596,761 (GRCm39) L519P probably damaging Het
Atp2a2 G C 5: 122,639,712 (GRCm39) L13V probably benign Het
Bst2 A T 8: 71,989,932 (GRCm39) I47N possibly damaging Het
Cacng6 G A 7: 3,473,509 (GRCm39) probably null Het
Cenpe A G 3: 134,957,289 (GRCm39) E1849G probably damaging Het
Cep295 T A 9: 15,244,050 (GRCm39) T213S probably damaging Het
Chia1 A G 3: 106,039,127 (GRCm39) T406A probably benign Het
Chmp4c G T 3: 10,432,277 (GRCm39) K62N probably damaging Het
Cldn15 A G 5: 136,996,979 (GRCm39) T7A probably benign Het
Cmpk2 T A 12: 26,528,019 (GRCm39) M412K probably benign Het
Cnnm1 T C 19: 43,453,705 (GRCm39) probably null Het
Cubn A C 2: 13,432,646 (GRCm39) probably null Het
Dop1b T C 16: 93,579,136 (GRCm39) V1668A possibly damaging Het
Erg28 T A 12: 85,863,203 (GRCm39) Y77F probably damaging Het
F830045P16Rik C T 2: 129,378,358 (GRCm39) A9T probably benign Het
Gli3 A G 13: 15,898,140 (GRCm39) D740G probably damaging Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Gpat3 A T 5: 101,041,010 (GRCm39) M357L probably benign Het
Gpr179 A G 11: 97,227,973 (GRCm39) V1394A possibly damaging Het
Grn T A 11: 102,327,621 (GRCm39) probably benign Het
H2-Q6 G A 17: 35,647,359 (GRCm39) probably null Het
Igsf3 A G 3: 101,342,964 (GRCm39) T514A probably benign Het
Il1r1 A G 1: 40,352,495 (GRCm39) D558G possibly damaging Het
Irx4 T C 13: 73,415,832 (GRCm39) M207T possibly damaging Het
Kap T C 6: 133,828,920 (GRCm39) I54V probably benign Het
Kdm2b G A 5: 123,072,841 (GRCm39) R340C probably damaging Het
Lipo3 T A 19: 33,533,831 (GRCm39) M334L probably benign Het
Lmbrd1 C T 1: 24,745,115 (GRCm39) L152F probably damaging Het
Ltbp1 G A 17: 75,666,452 (GRCm39) V1382I probably damaging Het
Map3k4 C T 17: 12,468,470 (GRCm39) D1008N possibly damaging Het
Mcf2l T C 8: 12,929,912 (GRCm39) probably benign Het
Mecom T G 3: 30,051,875 (GRCm39) D180A probably damaging Het
Meis1 T C 11: 18,891,741 (GRCm39) D269G probably benign Het
Myh7 A C 14: 55,226,351 (GRCm39) S430A probably benign Het
Myo1h A G 5: 114,474,325 (GRCm39) I439V probably damaging Het
Nat1 T C 8: 67,944,134 (GRCm39) V170A possibly damaging Het
Nlrp12 A G 7: 3,282,673 (GRCm39) L742P probably damaging Het
Nlrp4c A G 7: 6,069,052 (GRCm39) T318A probably benign Het
Or4d10 T A 19: 12,051,727 (GRCm39) I90F probably damaging Het
Or4k47 T A 2: 111,451,531 (GRCm39) N296I probably benign Het
Or51ai2 A G 7: 103,587,030 (GRCm39) I148V probably benign Het
Or8g33 G T 9: 39,337,530 (GRCm39) T279N probably damaging Het
Or8g35 A T 9: 39,381,926 (GRCm39) L32Q probably damaging Het
Otop3 A G 11: 115,235,898 (GRCm39) E529G probably damaging Het
Parp6 T C 9: 59,531,222 (GRCm39) Y35H probably damaging Het
Pcdhb4 A C 18: 37,441,074 (GRCm39) D128A probably damaging Het
Pramel30 A T 4: 144,059,717 (GRCm39) *476L probably null Het
Ptpn12 T A 5: 21,192,466 (GRCm39) K765* probably null Het
Ptprb T A 10: 116,182,912 (GRCm39) Y1529* probably null Het
Ptprc A T 1: 138,006,189 (GRCm39) Y798N possibly damaging Het
Sdk2 G A 11: 113,723,091 (GRCm39) T1300I probably damaging Het
Slc28a2b T C 2: 122,355,288 (GRCm39) I555T probably benign Het
Sptbn2 G A 19: 4,782,524 (GRCm39) V487I possibly damaging Het
Sptbn5 A G 2: 119,876,750 (GRCm39) probably benign Het
Srpk1 A G 17: 28,809,036 (GRCm39) S648P probably damaging Het
Stard9 T C 2: 120,496,888 (GRCm39) probably null Het
Tmem135 A T 7: 88,793,878 (GRCm39) I388N probably damaging Het
Top3a A T 11: 60,640,285 (GRCm39) I446N probably benign Het
Trpv1 T C 11: 73,136,862 (GRCm39) S482P probably damaging Het
Ugt3a1 C T 15: 9,306,541 (GRCm39) A230V probably benign Het
Vmn2r15 A C 5: 109,441,092 (GRCm39) Y255* probably null Het
Vmn2r60 A G 7: 41,765,895 (GRCm39) M1V probably null Het
Vmn2r87 A G 10: 130,314,869 (GRCm39) V239A probably damaging Het
Vwce T A 19: 10,636,956 (GRCm39) C679* probably null Het
Zfp385b C T 2: 77,246,185 (GRCm39) A281T probably benign Het
Zfp398 T G 6: 47,843,529 (GRCm39) L395W probably damaging Het
Zfp442 C T 2: 150,293,321 (GRCm39) probably null Het
Zfp606 A G 7: 12,226,871 (GRCm39) S331G probably benign Het
Zfp882 A G 8: 72,668,484 (GRCm39) H437R 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
IGL01530:Phldb2 APN 16 45,623,092 (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
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
Predicted Primers PCR Primer
(F):5'- GCTCTAAGTCGCTTACAACTCC -3'
(R):5'- TTAGCCCTAGGTCATCTGAGG -3'

Sequencing Primer
(F):5'- CTAGCATTTATCCAGGCAGAGCTG -3'
(R):5'- CTGTCTTTGCAGACAAGC -3'
Posted On 2018-05-04