Incidental Mutation 'R1605:Phldb2'
ID 176439
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 039642-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1605 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 45566606-45773961 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 45591142 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123284 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036355] [ENSMUST00000076333] [ENSMUST00000134802]
AlphaFold Q8K1N2
Predicted Effect probably benign
Transcript: ENSMUST00000036355
SMART Domains Protein: ENSMUSP00000046496
Gene: ENSMUSG00000033149

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 benign
Transcript: ENSMUST00000076333
SMART Domains Protein: ENSMUSP00000075672
Gene: ENSMUSG00000033149

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 noncoding transcript
Transcript: ENSMUST00000133111
Predicted Effect probably benign
Transcript: ENSMUST00000134802
SMART Domains Protein: ENSMUSP00000123284
Gene: ENSMUSG00000033149

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151300
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency 99% (75/76)
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730409E04Rik A G 4: 126,506,104 (GRCm39) K211E probably damaging Het
Acot7 A G 4: 152,291,285 (GRCm39) I84V possibly damaging Het
Ankrd44 A G 1: 54,867,781 (GRCm39) V34A probably benign Het
Atp4b A T 8: 13,443,489 (GRCm39) M63K probably damaging Het
Atr T A 9: 95,818,516 (GRCm39) I2163K probably damaging Het
Azgp1 A T 5: 137,983,426 (GRCm39) R34* probably null Het
Ccdc152 T G 15: 3,327,603 (GRCm39) K58T probably damaging Het
Ccdc88b T A 19: 6,827,837 (GRCm39) Q912L probably benign Het
Cdc42ep5 T A 7: 4,154,395 (GRCm39) H131L probably benign Het
Chd7 G A 4: 8,844,675 (GRCm39) E1595K probably damaging Het
Col11a1 G A 3: 113,925,290 (GRCm39) G41D probably damaging Het
Cyp2b23 C T 7: 26,385,843 (GRCm39) V5I probably benign Het
D430041D05Rik A G 2: 104,085,915 (GRCm39) V22A possibly damaging Het
Ddi1 T C 9: 6,266,012 (GRCm39) Y119C probably benign Het
Dysf T C 6: 84,083,923 (GRCm39) L785P probably damaging Het
Eqtn T A 4: 94,816,587 (GRCm39) T69S possibly damaging Het
F11 T A 8: 45,694,617 (GRCm39) K581N probably damaging Het
Gli2 G A 1: 118,782,290 (GRCm39) P172S probably damaging Het
Gm7579 G T 7: 141,765,603 (GRCm39) C3F unknown Het
Grin2a A G 16: 9,481,194 (GRCm39) V501A possibly damaging Het
Grk4 G A 5: 34,831,901 (GRCm39) D57N probably damaging Het
Gsdma A T 11: 98,557,319 (GRCm39) D86V probably damaging Het
Gsx1 A G 5: 147,126,738 (GRCm39) E187G probably damaging Het
Hdac1-ps A G 17: 78,799,537 (GRCm39) D176G probably damaging Het
Inpp5k T A 11: 75,524,307 (GRCm39) F75L probably benign Het
Itpr1 T C 6: 108,326,620 (GRCm39) V114A possibly damaging Het
Izumo3 A T 4: 92,032,977 (GRCm39) C130S probably damaging Het
Mei4 G A 9: 81,809,639 (GRCm39) E241K possibly damaging Het
Mocs2 T C 13: 114,961,120 (GRCm39) V39A probably benign Het
Mroh2b G A 15: 4,974,572 (GRCm39) R1184H probably benign Het
Msh3 T C 13: 92,436,783 (GRCm39) Q509R probably null Het
Myh8 T C 11: 67,192,497 (GRCm39) W1459R probably damaging Het
Mypop T A 7: 18,734,918 (GRCm39) probably benign Het
Ndc1 C A 4: 107,225,293 (GRCm39) T3K probably damaging Het
Nf1 A C 11: 79,331,749 (GRCm39) M695L probably benign Het
Nup50l A G 6: 96,141,793 (GRCm39) M417T probably benign Het
Nutm2 C A 13: 50,623,955 (GRCm39) D217E possibly damaging Het
Or52a20 T C 7: 103,365,858 (GRCm39) I19T probably damaging Het
Or5b122 A G 19: 13,562,994 (GRCm39) T109A probably benign Het
Pde6c C A 19: 38,129,940 (GRCm39) D283E probably damaging Het
Pigt G C 2: 164,349,419 (GRCm39) R574P probably damaging Het
Pkd1 T C 17: 24,796,500 (GRCm39) I2354T possibly damaging Het
Prdm15 T C 16: 97,640,506 (GRCm39) E27G probably damaging Het
Ptpn14 A G 1: 189,597,709 (GRCm39) I1140V probably benign Het
Rdx T C 9: 51,974,891 (GRCm39) V9A probably damaging Het
Rfx7 T C 9: 72,519,071 (GRCm39) S258P probably damaging Het
Rnf17 G T 14: 56,730,822 (GRCm39) G1209C probably damaging Het
S1pr4 C T 10: 81,335,225 (GRCm39) probably null Het
Scml2 G T X: 160,014,442 (GRCm39) E566D possibly damaging Het
Serpinb1b T A 13: 33,277,646 (GRCm39) V293E possibly damaging Het
Serpinb9b T C 13: 33,222,112 (GRCm39) probably null Het
Sez6l A C 5: 112,622,915 (GRCm39) I212S probably damaging Het
Son T C 16: 91,454,552 (GRCm39) S1100P probably damaging Het
Spag9 G A 11: 93,939,365 (GRCm39) R98H probably damaging Het
Spata31e2 A T 1: 26,723,511 (GRCm39) H556Q possibly damaging Het
St3gal5 T C 6: 72,119,272 (GRCm39) L128P probably benign Het
Stra6 A T 9: 58,059,166 (GRCm39) M510L probably benign Het
Stxbp5l A G 16: 37,028,473 (GRCm39) V530A probably benign Het
Tatdn1 A G 15: 58,793,039 (GRCm39) probably benign Het
Tbc1d8 A G 1: 39,430,206 (GRCm39) S466P probably benign Het
Tmem199 A T 11: 78,399,152 (GRCm39) M175K possibly damaging Het
Trmt12 A G 15: 58,744,764 (GRCm39) E54G probably benign Het
Usp37 G T 1: 74,532,163 (GRCm39) Q77K possibly damaging Het
Vezf1 A G 11: 87,967,125 (GRCm39) I301V possibly damaging Het
Vmn1r34 T G 6: 66,613,932 (GRCm39) M269L probably benign Het
Wdr93 C A 7: 79,421,257 (GRCm39) probably null Het
Wnk2 T C 13: 49,214,370 (GRCm39) D644G probably damaging Het
Zc3h13 C T 14: 75,574,923 (GRCm39) R1591* probably null Het
Zfp131 G A 13: 120,230,316 (GRCm39) L371F probably damaging Het
Zfp180 T A 7: 23,804,049 (GRCm39) V156D probably benign Het
Zfp646 G T 7: 127,479,359 (GRCm39) probably null Het
Zscan12 C A 13: 21,550,813 (GRCm39) T144K probably benign 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
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
Predicted Primers PCR Primer
(F):5'- ATAAGGGGACTGGTGCTACCTTGG -3'
(R):5'- TGAGATTGCAGCAGAGCTTCTTGG -3'

Sequencing Primer
(F):5'- GTGCTACCTTGGTACAAGAATG -3'
(R):5'- CTTGGGAGAGATGGTGAGTAATTAGC -3'
Posted On 2014-04-24