Incidental Mutation 'R1732:Phldb2'
ID 199427
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 039764-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1732 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 45566606-45773961 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45577529 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1132 (E1132G)
Ref Sequence ENSEMBL: ENSMUSP00000075672 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036355] [ENSMUST00000076333] [ENSMUST00000134802]
AlphaFold Q8K1N2
Predicted Effect probably damaging
Transcript: ENSMUST00000036355
AA Change: E1079G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000046496
Gene: ENSMUSG00000033149
AA Change: E1079G

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: E1132G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000075672
Gene: ENSMUSG00000033149
AA Change: E1132G

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: E394G
SMART Domains Protein: ENSMUSP00000119718
Gene: ENSMUSG00000033149
AA Change: E394G

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 possibly damaging
Transcript: ENSMUST00000134802
AA Change: E1124G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000123284
Gene: ENSMUSG00000033149
AA Change: E1124G

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
Meta Mutation Damage Score 0.0864 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 91.6%
Validation Efficiency 99% (78/79)
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik C A 12: 71,265,995 (GRCm39) Q1445K probably benign Het
Acacb A T 5: 114,328,148 (GRCm39) M303L possibly damaging Het
Actl9 T C 17: 33,652,096 (GRCm39) V52A probably damaging Het
Adam7 T C 14: 68,735,899 (GRCm39) T781A probably benign Het
Agpat4 T C 17: 12,435,615 (GRCm39) V293A probably benign Het
Ank1 T A 8: 23,601,479 (GRCm39) probably benign Het
Atp1a1 C A 3: 101,492,115 (GRCm39) G587V probably damaging Het
Avpr1b T C 1: 131,527,992 (GRCm39) F172L probably damaging Het
Bmp1 A T 14: 70,723,705 (GRCm39) D710E possibly damaging Het
Cep126 A T 9: 8,099,762 (GRCm39) I924N probably benign Het
Chek2 G T 5: 111,019,968 (GRCm39) A517S probably benign Het
Cmbl A T 15: 31,588,378 (GRCm39) E165D probably damaging Het
Cntnap3 A T 13: 64,888,626 (GRCm39) probably null Het
Col1a1 A T 11: 94,835,241 (GRCm39) probably benign Het
Ctbp2 T C 7: 132,600,653 (GRCm39) M624V possibly damaging Het
Cwc15 A G 9: 14,421,543 (GRCm39) D203G probably benign Het
Cyld C T 8: 89,458,295 (GRCm39) probably benign Het
Cyp3a57 A T 5: 145,302,455 (GRCm39) I84F probably damaging Het
Dennd3 T A 15: 73,409,267 (GRCm39) probably benign Het
Desi2 A C 1: 178,084,217 (GRCm39) probably benign Het
Dmxl1 T A 18: 50,026,511 (GRCm39) L1873* probably null Het
Dmxl1 T A 18: 50,036,055 (GRCm39) H2359Q probably benign Het
Ephb4 A G 5: 137,370,440 (GRCm39) N880S possibly damaging Het
F10 T C 8: 13,100,764 (GRCm39) L214P probably damaging Het
F5 G A 1: 164,001,719 (GRCm39) V141M probably damaging Het
Fam135a A T 1: 24,065,734 (GRCm39) S1022T possibly damaging Het
Fam13b A T 18: 34,620,187 (GRCm39) N232K probably benign Het
Fyco1 T C 9: 123,648,157 (GRCm39) E1259G probably benign Het
Gak A T 5: 108,724,448 (GRCm39) D1087E probably benign Het
Gm7138 A T 10: 77,612,682 (GRCm39) probably benign Het
Gm8674 T A 13: 50,055,962 (GRCm39) noncoding transcript Het
Gpr25 A G 1: 136,187,866 (GRCm39) V249A probably benign Het
Hcn3 T C 3: 89,055,426 (GRCm39) H607R probably damaging Het
Hdac4 T A 1: 91,875,257 (GRCm39) T905S probably benign Het
Itgad T C 7: 127,804,279 (GRCm39) S86P probably benign Het
Itgb4 G T 11: 115,879,744 (GRCm39) R632L probably damaging Het
Kcnb2 A T 1: 15,779,979 (GRCm39) T284S probably benign Het
Klhl22 T A 16: 17,594,888 (GRCm39) M339K probably damaging Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Mybpc2 C A 7: 44,163,099 (GRCm39) V484L probably benign Het
Noa1 A T 5: 77,454,221 (GRCm39) V473E probably benign Het
Nwd1 C G 8: 73,393,463 (GRCm39) S242C possibly damaging Het
Or55b10 C A 7: 102,143,247 (GRCm39) C245F probably damaging Het
Or7e174 A G 9: 20,012,796 (GRCm39) H247R probably damaging Het
Otof A T 5: 30,543,815 (GRCm39) W535R probably damaging Het
Peg3 T C 7: 6,712,084 (GRCm39) E1046G possibly damaging Het
Phtf2 A T 5: 20,994,625 (GRCm39) probably null Het
Plce1 G T 19: 38,705,282 (GRCm39) A896S possibly damaging Het
Prim1 T C 10: 127,851,193 (GRCm39) Y26H probably damaging Het
Prr12 T A 7: 44,697,780 (GRCm39) T712S unknown Het
Psme4 G A 11: 30,798,105 (GRCm39) R1366H probably benign Het
Ptpdc1 T C 13: 48,740,021 (GRCm39) E409G probably benign Het
Rabep1 A G 11: 70,795,467 (GRCm39) N274S probably damaging Het
Rbm14 A G 19: 4,853,495 (GRCm39) S296P probably benign Het
Rec114 A G 9: 58,560,389 (GRCm39) S206P probably damaging Het
Rps6ka1 A T 4: 133,587,381 (GRCm39) Y531N probably damaging Het
Slc28a2 T C 2: 122,280,239 (GRCm39) probably benign Het
Slc34a1 A G 13: 55,561,233 (GRCm39) H566R probably benign Het
Slc9c1 A G 16: 45,373,291 (GRCm39) T290A probably benign Het
Smarcc1 T A 9: 110,014,888 (GRCm39) probably benign Het
Srp54b T A 12: 55,299,544 (GRCm39) probably null Het
Stambpl1 C G 19: 34,204,121 (GRCm39) N70K probably damaging Het
Synj1 T C 16: 90,761,118 (GRCm39) K710E probably damaging Het
Tenm3 T A 8: 48,763,669 (GRCm39) D795V probably damaging Het
Tgm2 T C 2: 157,976,277 (GRCm39) Y149C probably damaging Het
Tmem151a C A 19: 5,132,895 (GRCm39) A104S probably damaging Het
Top1mt A G 15: 75,538,100 (GRCm39) probably null Het
Tpgs1 T A 10: 79,511,428 (GRCm39) L190Q possibly damaging Het
Triobp T A 15: 78,851,428 (GRCm39) H527Q possibly damaging Het
Tspan2 A G 3: 102,676,193 (GRCm39) I197V probably damaging Het
Ube3b A G 5: 114,525,506 (GRCm39) I76V probably benign Het
Vmn1r32 A T 6: 66,530,285 (GRCm39) S164T probably benign Het
Zfp607a G T 7: 27,577,884 (GRCm39) C318F 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
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
Predicted Primers PCR Primer
(F):5'- GGTAGTTCTACGGCAGTTTCCTCG -3'
(R):5'- CCAGAGAACAGCTTCATGGCTAGG -3'

Sequencing Primer
(F):5'- GGCAGTTTCCTCGAAGTTCTAAAG -3'
(R):5'- CATGGCTAGGGCTGTATGAC -3'
Posted On 2014-05-23