Incidental Mutation 'RF008:Phldb2'
ID 603011
Institutional Source Beutler Lab
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 # RF008 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 45566606-45773961 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45583337 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 1054 (S1054G)
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: S1001G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000046496
Gene: ENSMUSG00000033149
AA Change: S1001G

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: S1054G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000075672
Gene: ENSMUSG00000033149
AA Change: S1054G

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
SMART Domains Protein: ENSMUSP00000119718
Gene: ENSMUSG00000033149
AA Change: S316G

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: S1046G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123284
Gene: ENSMUSG00000033149
AA Change: S1046G

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
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.7%
Validation Efficiency 100% (45/45)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp CCACGACC CCACGACCACGACC 16: 56,447,952 (GRCm39) probably benign Het
Acan T G 7: 78,742,148 (GRCm39) V515G possibly damaging Het
Acap3 TGG TGGACTGCTGCATCCAGG 4: 155,989,555 (GRCm39) probably benign Het
AI837181 G GGCT 19: 5,475,266 (GRCm39) probably benign Het
Ankhd1 GGCGGC GGCGGCAGCGGC 18: 36,693,977 (GRCm39) probably benign Het
Anks1b G A 10: 89,869,087 (GRCm39) G49D probably damaging Het
Arid1b GCG GCGACG 17: 5,045,869 (GRCm39) probably benign Het
Arid1b CGG CGGAGG 17: 5,045,870 (GRCm39) probably benign Het
Begain G GCCGCCC 12: 108,999,363 (GRCm39) probably null Het
Cacna1e A G 1: 154,317,882 (GRCm39) M1500T probably damaging Het
Casp16 C A 17: 23,774,201 (GRCm39) probably benign Het
Ccdc174 T C 6: 91,876,347 (GRCm39) S395P possibly damaging Het
Ccdc7a T G 8: 129,691,434 (GRCm39) Q396H probably damaging Het
Ccdc85c CC CCGGC 12: 108,240,887 (GRCm39) probably benign Het
Cemip T C 7: 83,610,843 (GRCm39) T704A probably damaging Het
Cfap68 C T 9: 50,677,067 (GRCm39) R8H probably benign Het
Col7a1 C T 9: 108,793,547 (GRCm39) P1370S unknown Het
Cts8 T C 13: 61,397,102 (GRCm39) I273V probably benign Het
Cyp2c50 T A 19: 40,078,268 (GRCm39) I42N probably damaging Het
Dbt T G 3: 116,341,717 (GRCm39) Y439* probably null Het
Dennd1b T A 1: 138,981,135 (GRCm39) D116E probably damaging Het
Dkk2 T A 3: 131,883,863 (GRCm39) H254Q probably damaging Het
Dpy30 C A 17: 74,622,902 (GRCm39) V27F possibly damaging Het
Efhd2 GCCGCC GCCGCCCCCGCC 4: 141,602,069 (GRCm39) probably benign Het
Eif4g3 A T 4: 137,903,235 (GRCm39) E1020V probably damaging Het
Elmo1 T A 13: 20,458,706 (GRCm39) S156T probably benign Het
Fancd2os T C 6: 113,574,881 (GRCm39) T42A probably damaging Het
Fbrsl1 TGTGC TGTGCGGGTGTGGGTGC 5: 110,525,984 (GRCm39) probably benign Het
Fsip2 T C 2: 82,808,184 (GRCm39) V1501A probably benign Het
Gabrb2 A G 11: 42,517,705 (GRCm39) Y509C probably damaging Het
Gm8369 GTGT GTGTTTGT 19: 11,489,118 (GRCm39) probably null Het
Gpr139 T C 7: 118,744,090 (GRCm39) D165G probably benign Het
Grik2 T C 10: 49,120,480 (GRCm39) E603G probably damaging Het
H13 G A 2: 152,511,589 (GRCm39) E30K probably damaging Het
Ifitm10 T A 7: 141,882,330 (GRCm39) M147L unknown Het
Itpkb C T 1: 180,160,887 (GRCm39) R338W probably damaging Het
Kif1b T A 4: 149,336,195 (GRCm39) probably null Het
Krtap28-10 ACCACAGCCACAGCCACCACAGCCACAGCCACCACAGC ACCACAGCCACAGCCACCACAGCCACAGCCACCACAGCCACAGCCACCACAGC 1: 83,019,974 (GRCm39) probably benign Het
Krtap28-10 AGCCACCACAGC AGCCACCACAGCCACCGCCACCACAGC 1: 83,020,000 (GRCm39) probably benign Het
Krtap28-10 CAGCCA CAGCCATAGCCA 1: 83,019,849 (GRCm39) probably benign Het
Krtap28-10 AGCCAC AGCCACCGCCAC 1: 83,019,856 (GRCm39) probably benign Het
Las1l AGTGG AGTGGTGG X: 94,984,422 (GRCm39) probably benign Het
Mical2 T C 7: 111,922,833 (GRCm39) Y613H probably damaging Het
Mlf2 C A 6: 124,911,259 (GRCm39) H91Q probably benign Het
Nat9 A T 11: 115,074,212 (GRCm39) I152N probably damaging Het
Or10d4c T C 9: 39,558,559 (GRCm39) M179T probably benign Het
Or4a75 A T 2: 89,447,711 (GRCm39) I275N possibly damaging Het
Pdik1l CACCAC CACCACAACCAC 4: 134,006,822 (GRCm39) probably benign Het
Pkhd1l1 TTTT TTTTTTTTTTGTTT 15: 44,421,901 (GRCm39) probably benign Het
Plcg2 T A 8: 118,300,263 (GRCm39) probably null Het
Polr1has CACCACCACCACCACCAC CACCACCACCACCACCACCACAACCACCACCACCACCAC 17: 37,275,946 (GRCm39) probably benign Het
Prdm16 T A 4: 154,426,452 (GRCm39) R444S probably damaging Het
Rgs6 T C 12: 83,110,223 (GRCm39) F163L probably damaging Het
Rnaseh2a A T 8: 85,686,687 (GRCm39) L154* probably null Het
Rpp38 A G 2: 3,330,072 (GRCm39) S277P unknown Het
Setd1a GGTAGTGGT GGTAGTGGTTGTAGTGGT 7: 127,384,486 (GRCm39) probably benign Het
Shisa6 CGACAGCAGCAGAG CG 11: 66,416,749 (GRCm39) probably benign Het
Slc27a2 T A 2: 126,395,175 (GRCm39) L34Q possibly damaging Het
Slc7a6 G A 8: 106,922,030 (GRCm39) V386I probably benign Het
Spry1 C T 3: 37,697,264 (GRCm39) T169I possibly damaging Het
Sry TGCTGCTGCTG TGCTGCTGCTGCTG Y: 2,662,826 (GRCm39) probably benign Het
Stk24 A T 14: 121,532,172 (GRCm39) I275N probably benign Het
Strn TC TCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGGC 17: 78,984,716 (GRCm39) probably null Het
Tcp11l2 C A 10: 84,449,388 (GRCm39) P451Q probably damaging Het
Tfeb AGC AGCTGC 17: 48,097,027 (GRCm39) probably benign Het
Trappc9 TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT TGCTGCTGCTGCTGCGGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT 15: 72,673,138 (GRCm39) probably benign Het
V1ra8 A G 6: 90,180,591 (GRCm39) T265A probably benign Het
Zfp106 CTCCTGGCAGT CT 2: 120,355,026 (GRCm39) probably benign Het
Zfp612 C A 8: 110,816,193 (GRCm39) H467N probably damaging Het
Zfp777 A T 6: 48,018,982 (GRCm39) Y317* probably null 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
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
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'- AGGGTCCCCAAGATTCCTAG -3'
(R):5'- CCATAGATTTGTGAGATTCTGAGC -3'

Sequencing Primer
(F):5'- AGATTCCTAGCCCCCGC -3'
(R):5'- GTGAGATTCTGAGCTTGATAAATGAG -3'
Posted On 2019-12-04