Incidental Mutation 'R2122:Phldb2'
ID 229613
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 040126-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2122 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 45566606-45773961 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 45583304 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 1065 (I1065F)
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: I1012F

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000046496
Gene: ENSMUSG00000033149
AA Change: I1012F

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: I1065F

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000075672
Gene: ENSMUSG00000033149
AA Change: I1065F

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: I327F
SMART Domains Protein: ENSMUSP00000119718
Gene: ENSMUSG00000033149
AA Change: I327F

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: I1057F

PolyPhen 2 Score 0.720 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000123284
Gene: ENSMUSG00000033149
AA Change: I1057F

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: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 G T 7: 120,119,184 (GRCm39) G975V probably damaging Het
Abcg5 T A 17: 84,978,575 (GRCm39) E294D probably benign Het
Actl10 G A 2: 154,394,153 (GRCm39) R35H probably damaging Het
Adamts12 C T 15: 11,310,665 (GRCm39) T974I probably damaging Het
Ahctf1 C A 1: 179,597,017 (GRCm39) R43L probably damaging Het
Arhgef10 A G 8: 14,984,820 (GRCm39) D200G probably damaging Het
Arhgef38 T C 3: 132,866,514 (GRCm39) K208E probably benign Het
Arhgef7 A T 8: 11,778,256 (GRCm39) N2I possibly damaging Het
Blvra T G 2: 126,928,817 (GRCm39) S102A probably damaging Het
Btn1a1 A G 13: 23,645,691 (GRCm39) L226P probably damaging Het
C2cd4d G T 3: 94,270,925 (GRCm39) E64* probably null Het
Ccna2 A G 3: 36,622,875 (GRCm39) V209A probably damaging Het
Cd55 T A 1: 130,387,354 (GRCm39) D148V possibly damaging Het
Cdh2 G A 18: 16,907,600 (GRCm39) P46L probably benign Het
Cldn11 A G 3: 31,217,300 (GRCm39) Y156C probably damaging Het
Cmtm2a T C 8: 105,019,655 (GRCm39) R12G possibly damaging Het
Cog2 T C 8: 125,255,724 (GRCm39) S104P possibly damaging Het
Col4a3 T G 1: 82,632,678 (GRCm39) F184V unknown Het
Col4a4 T A 1: 82,434,592 (GRCm39) D1406V unknown Het
Col6a1 T C 10: 76,557,332 (GRCm39) T207A probably benign Het
Cyp2a12 A G 7: 26,736,071 (GRCm39) *493W probably null Het
Dcdc2a T G 13: 25,303,268 (GRCm39) S266R possibly damaging Het
Dmd G C X: 83,356,089 (GRCm39) A2257P probably benign Het
Ecel1 A G 1: 87,075,997 (GRCm39) S727P probably damaging Het
Eif2ak4 T A 2: 118,286,274 (GRCm39) V1063E probably damaging Het
Enpp2 A T 15: 54,761,188 (GRCm39) Y44* probably null Het
Ep400 A T 5: 110,856,716 (GRCm39) probably benign Het
Exoc6b A G 6: 84,598,464 (GRCm39) M779T probably benign Het
F13a1 T A 13: 37,209,653 (GRCm39) Y104F probably benign Het
Fam78b G A 1: 166,906,278 (GRCm39) V146M probably damaging Het
Fgf18 A C 11: 33,068,003 (GRCm39) F129C probably damaging Het
Fscn3 A G 6: 28,430,388 (GRCm39) D186G probably benign Het
Gm5773 G A 3: 93,680,624 (GRCm39) G99R possibly damaging Het
Grk1 A T 8: 13,455,221 (GRCm39) Y35F probably benign Het
Heatr1 T C 13: 12,418,145 (GRCm39) V359A probably benign Het
Hfm1 A G 5: 107,044,121 (GRCm39) S567P probably damaging Het
Il1rap A T 16: 26,529,315 (GRCm39) H379L probably damaging Het
Kctd5 T C 17: 24,274,940 (GRCm39) T212A probably benign Het
Krtap5-5 A T 7: 141,783,240 (GRCm39) C137S unknown Het
Lrp2 T C 2: 69,314,051 (GRCm39) T2227A probably damaging Het
Ltbp1 T A 17: 75,617,154 (GRCm39) V1031E possibly damaging Het
Ltbr A G 6: 125,286,440 (GRCm39) S249P probably benign Het
Map1a T A 2: 121,129,927 (GRCm39) Y248N probably damaging Het
Mdc1 C T 17: 36,158,835 (GRCm39) A405V probably benign Het
Mfsd4b1 T C 10: 39,878,647 (GRCm39) K417E possibly damaging Het
Mroh2a T C 1: 88,184,476 (GRCm39) V1453A probably benign Het
Myh11 T C 16: 14,035,868 (GRCm39) E1027G probably damaging Het
Nudt6 A C 3: 37,466,554 (GRCm39) F80L probably benign Het
Nxph1 A G 6: 9,247,791 (GRCm39) K254R probably damaging Het
Obsl1 C T 1: 75,470,527 (GRCm39) R1043H probably benign Het
Or10a4 A T 7: 106,697,316 (GRCm39) I215F probably damaging Het
Pde6d A G 1: 86,473,524 (GRCm39) F91L probably benign Het
Ppp1r3a A T 6: 14,721,874 (GRCm39) N317K possibly damaging Het
Psmd1 T A 1: 86,006,422 (GRCm39) S263T possibly damaging Het
Pum1 C A 4: 130,396,581 (GRCm39) T112K possibly damaging Het
Rasgrp2 T A 19: 6,454,425 (GRCm39) M156K probably benign Het
Reg3a T C 6: 78,358,119 (GRCm39) C17R possibly damaging Het
Ripor2 A G 13: 24,897,701 (GRCm39) S800G probably damaging Het
Rnf168 T G 16: 32,097,036 (GRCm39) L37R probably damaging Het
Rnf31 A G 14: 55,833,654 (GRCm39) D554G probably damaging Het
Rpe T C 1: 66,754,387 (GRCm39) M153T probably damaging Het
Sacs A T 14: 61,449,765 (GRCm39) Q3937L probably damaging Het
Sap18 T A 14: 58,036,011 (GRCm39) S66T probably damaging Het
Slc20a1 T G 2: 129,041,739 (GRCm39) I34S possibly damaging Het
Slc25a30 A G 14: 76,007,658 (GRCm39) S116P possibly damaging Het
Speer4c1 T A 5: 15,919,115 (GRCm39) D29V possibly damaging Het
Stk40 C T 4: 126,022,640 (GRCm39) T138I probably benign Het
Susd3 A G 13: 49,384,626 (GRCm39) Y254H probably damaging Het
Tanc2 T C 11: 105,786,775 (GRCm39) L858P probably damaging Het
Tas2r106 A T 6: 131,655,317 (GRCm39) L178H probably damaging Het
Tfpt C T 7: 3,631,930 (GRCm39) R60Q probably damaging Het
Tmem44 T A 16: 30,366,262 (GRCm39) K55* probably null Het
Tnfsf9 A T 17: 57,414,316 (GRCm39) probably null Het
Ube3c T C 5: 29,824,604 (GRCm39) I543T probably benign Het
Ugt1a2 C A 1: 88,128,735 (GRCm39) S126Y possibly damaging Het
Vmn1r180 T A 7: 23,652,566 (GRCm39) L243Q probably damaging Het
Vmn2r15 A C 5: 109,434,322 (GRCm39) V794G probably damaging Het
Vmn2r24 A G 6: 123,792,353 (GRCm39) D560G possibly damaging Het
Wdr11 G A 7: 129,233,490 (GRCm39) C1028Y probably damaging Het
Zfp318 A G 17: 46,724,297 (GRCm39) D2100G probably benign Het
Zfyve16 A T 13: 92,655,991 (GRCm39) Y789* 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
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'- AGGATATGACTTCCCAGGGTCC -3'
(R):5'- TCCATAGATTTGTGAGATTCTGAGC -3'

Sequencing Primer
(F):5'- AGGGTCCCCAAGATTCCTAG -3'
(R):5'- TCTCCTTAGGTTATAATCACCAACAG -3'
Posted On 2014-09-17