Incidental Mutation 'R9278:Phldb2'
ID 703467
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9278 (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 A at 45646308 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Isoleucine at position 46 (S46I)
Ref Sequence ENSEMBL: ENSMUSP00000075672 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036355] [ENSMUST00000076333] [ENSMUST00000134802] [ENSMUST00000136405]
AlphaFold Q8K1N2
Predicted Effect probably damaging
Transcript: ENSMUST00000036355
AA Change: S46I

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000046496
Gene: ENSMUSG00000033149
AA Change: S46I

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: S46I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000075672
Gene: ENSMUSG00000033149
AA Change: S46I

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 damaging
Transcript: ENSMUST00000134802
AA Change: S91I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123284
Gene: ENSMUSG00000033149
AA Change: S91I

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 probably damaging
Transcript: ENSMUST00000136405
AA Change: S87I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121800
Gene: ENSMUSG00000033149
AA Change: S87I

DomainStartEndE-ValueType
low complexity region 16 24 N/A INTRINSIC
Meta Mutation Damage Score 0.1130 question?
Coding Region Coverage
  • 1x: 93.4%
  • 3x: 93.4%
  • 10x: 93.2%
  • 20x: 92.9%
Validation Efficiency 97% (77/79)
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn T A 17: 14,024,270 (GRCm39) C59S probably damaging Het
Aicda C T 6: 122,538,854 (GRCm39) A161V possibly damaging Het
Ankrd12 C T 17: 66,344,599 (GRCm39) E91K possibly damaging Het
Arpc2 C A 1: 74,276,041 (GRCm39) F19L probably benign Het
Aspa T C 11: 73,215,280 (GRCm39) K12E possibly damaging Het
Chd8 G A 14: 52,472,627 (GRCm39) P392L probably benign Het
Cldn10 C T 14: 119,111,647 (GRCm39) R206W probably damaging Het
Clec4b2 T A 6: 123,181,224 (GRCm39) M203K probably damaging Het
Clec4d G T 6: 123,251,651 (GRCm39) E178* probably null Het
Clec4d T C 6: 123,251,649 (GRCm39) M177T probably benign Het
Cmpk2 A T 12: 26,519,568 (GRCm39) Y73F probably benign Het
Col1a1 T A 11: 94,838,103 (GRCm39) V845D unknown Het
Cyp2c67 C T 19: 39,597,699 (GRCm39) R433Q probably damaging Het
Dda1 A T 8: 71,927,130 (GRCm39) probably null Het
Ddx60 A T 8: 62,431,012 (GRCm39) Y849F possibly damaging Het
Dnm2 C T 9: 21,416,977 (GRCm39) R837W possibly damaging Het
Dtwd1 C T 2: 126,006,728 (GRCm39) T250I probably damaging Het
Efcab6 A G 15: 83,777,094 (GRCm39) V1114A probably damaging Het
Fat4 A G 3: 38,945,171 (GRCm39) T1355A probably benign Het
Fbxo40 T G 16: 36,789,940 (GRCm39) D390A possibly damaging Het
Gnaz T A 10: 74,827,437 (GRCm39) L63Q probably benign Het
H6pd T A 4: 150,080,307 (GRCm39) K179N probably damaging Het
Hmgb2 A G 8: 57,965,786 (GRCm39) probably benign Het
Hps5 A G 7: 46,440,397 (GRCm39) F18L probably benign Het
Hyal5 A G 6: 24,876,694 (GRCm39) E189G probably benign Het
Ifnar1 T A 16: 91,302,013 (GRCm39) I496N probably damaging Het
Ift70a2 T C 2: 75,807,375 (GRCm39) D379G probably damaging Het
Igf2r C A 17: 12,914,240 (GRCm39) C1743F probably damaging Het
Igfn1 C A 1: 135,901,185 (GRCm39) R431L probably damaging Het
Itch A G 2: 155,045,217 (GRCm39) Q507R probably benign Het
Kbtbd2 C A 6: 56,757,331 (GRCm39) R135L probably damaging Het
Kcnn2 T C 18: 45,725,446 (GRCm39) I314T probably damaging Het
Lix1 A G 17: 17,623,211 (GRCm39) D2G probably damaging Het
Lrp1b T C 2: 40,487,076 (GRCm39) Y4557C Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Mcam G T 9: 44,046,473 (GRCm39) probably benign Het
Med19 G T 2: 84,508,975 (GRCm39) G63C probably damaging Het
Mfsd4b1 C T 10: 39,883,330 (GRCm39) R40H probably damaging Het
Neb C T 2: 52,146,190 (GRCm39) R2929H probably damaging Het
Nlrc5 A G 8: 95,237,908 (GRCm39) D1434G probably benign Het
Nlrp14 A T 7: 106,797,049 (GRCm39) N972I probably damaging Het
Or13a18 T C 7: 140,190,936 (GRCm39) Y278H probably damaging Het
Or14j7 A T 17: 38,235,275 (GRCm39) M273L probably benign Het
Or2h15 A T 17: 38,441,693 (GRCm39) L130Q probably damaging Het
Or4a74 A C 2: 89,439,948 (GRCm39) F166C probably damaging Het
Or8g29-ps1 A G 9: 39,200,781 (GRCm39) V135A probably benign Het
Otop1 T C 5: 38,460,158 (GRCm39) V575A probably damaging Het
Pcdhb4 A G 18: 37,441,925 (GRCm39) S412G possibly damaging Het
Pcsk4 T C 10: 80,161,224 (GRCm39) D230G probably damaging Het
Pik3ca A T 3: 32,508,587 (GRCm39) N785I probably damaging Het
Polr2b A G 5: 77,471,485 (GRCm39) R274G probably damaging Het
Prkdc G A 16: 15,634,523 (GRCm39) probably null Het
Prune2 C T 19: 17,101,144 (GRCm39) T2216I probably benign Het
Psma3 A T 12: 71,041,156 (GRCm39) D252V probably benign Het
Rnf213 T C 11: 119,326,768 (GRCm39) V1586A Het
Ryr2 T C 13: 11,897,976 (GRCm39) T140A probably benign Het
Slc25a48 A G 13: 56,611,552 (GRCm39) I220V probably benign Het
Slc2a1 A T 4: 118,990,607 (GRCm39) E246D probably benign Het
Slc45a4 A G 15: 73,458,206 (GRCm39) Y448H probably benign Het
Sorl1 C T 9: 41,957,857 (GRCm39) V596I probably benign Het
Spag6 A C 2: 18,703,985 (GRCm39) E11A probably benign Het
Spef2 A G 15: 9,727,495 (GRCm39) probably null Het
Spon1 T C 7: 113,628,188 (GRCm39) S315P probably damaging Het
Stard3 G A 11: 98,262,931 (GRCm39) probably benign Het
Sv2c A G 13: 96,112,589 (GRCm39) M636T probably damaging Het
Syt17 T A 7: 118,033,480 (GRCm39) D172V probably damaging Het
Tcf4 A G 18: 69,766,652 (GRCm39) Y206C probably damaging Het
Tead2 G T 7: 44,880,776 (GRCm39) S318I probably benign Het
Tom1 A T 8: 75,783,883 (GRCm39) D289V probably damaging Het
Tonsl A G 15: 76,520,971 (GRCm39) probably benign Het
Tsen15 T C 1: 152,259,098 (GRCm39) I87V probably damaging Het
Usp15 A G 10: 123,007,112 (GRCm39) F123S probably damaging Het
Vmn1r220 A T 13: 23,368,258 (GRCm39) I146N possibly damaging Het
Vmn2r108 A T 17: 20,692,561 (GRCm39) N98K probably benign Het
Vmn2r71 T A 7: 85,269,788 (GRCm39) M433K probably benign Het
Vmn2r97 A T 17: 19,134,762 (GRCm39) H60L probably benign Het
Wbp4 A G 14: 79,699,486 (GRCm39) V336A probably benign Het
Zfp663 T C 2: 165,202,010 (GRCm39) probably null Het
Zpld2 A G 4: 133,922,770 (GRCm39) L521P 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
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
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'- CTTTCCCAAGAGGATAGCCG -3'
(R):5'- GGTACACTTTCACGTGTGTTTAAAC -3'

Sequencing Primer
(F):5'- CCAAGAGGATAGCCGCCAAG -3'
(R):5'- CGTGTGTTTAAACTAAAACTTTCTCC -3'
Posted On 2022-03-25