Incidental Mutation 'R6813:Phldb1'
ID 533958
Institutional Source Beutler Lab
Gene Symbol Phldb1
Ensembl Gene ENSMUSG00000048537
Gene Name pleckstrin homology like domain, family B, member 1
Synonyms D330037A14Rik, LL5A
MMRRC Submission 044925-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # R6813 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 44597601-44646495 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 44610865 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 751 (S751R)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034611] [ENSMUST00000123310] [ENSMUST00000134465] [ENSMUST00000135436] [ENSMUST00000138356] [ENSMUST00000144251] [ENSMUST00000147495] [ENSMUST00000154723] [ENSMUST00000156918]
AlphaFold Q6PDH0
Predicted Effect possibly damaging
Transcript: ENSMUST00000034611
AA Change: S1007R

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000034611
Gene: ENSMUSG00000048537
AA Change: S1007R

DomainStartEndE-ValueType
PDB:2EH0|A 40 139 3e-10 PDB
Blast:FHA 63 110 6e-21 BLAST
low complexity region 181 192 N/A INTRINSIC
low complexity region 252 273 N/A INTRINSIC
low complexity region 296 316 N/A INTRINSIC
internal_repeat_1 321 354 5.01e-5 PROSPERO
internal_repeat_1 401 449 5.01e-5 PROSPERO
low complexity region 459 477 N/A INTRINSIC
low complexity region 590 617 N/A INTRINSIC
low complexity region 694 707 N/A INTRINSIC
coiled coil region 715 798 N/A INTRINSIC
low complexity region 819 829 N/A INTRINSIC
coiled coil region 865 904 N/A INTRINSIC
low complexity region 943 961 N/A INTRINSIC
low complexity region 976 997 N/A INTRINSIC
low complexity region 1055 1069 N/A INTRINSIC
low complexity region 1103 1111 N/A INTRINSIC
coiled coil region 1150 1219 N/A INTRINSIC
PH 1262 1366 1.31e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123123
Predicted Effect probably benign
Transcript: ENSMUST00000123310
AA Change: S89R

PolyPhen 2 Score 0.376 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000122374
Gene: ENSMUSG00000048537
AA Change: S89R

DomainStartEndE-ValueType
coiled coil region 1 33 N/A INTRINSIC
low complexity region 58 79 N/A INTRINSIC
low complexity region 137 151 N/A INTRINSIC
low complexity region 185 193 N/A INTRINSIC
coiled coil region 232 259 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000128326
AA Change: S452R

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000119966
Gene: ENSMUSG00000048537
AA Change: S452R

DomainStartEndE-ValueType
low complexity region 1 12 N/A INTRINSIC
low complexity region 83 110 N/A INTRINSIC
low complexity region 187 200 N/A INTRINSIC
coiled coil region 207 290 N/A INTRINSIC
low complexity region 312 322 N/A INTRINSIC
coiled coil region 357 396 N/A INTRINSIC
low complexity region 422 443 N/A INTRINSIC
low complexity region 493 506 N/A INTRINSIC
low complexity region 516 530 N/A INTRINSIC
low complexity region 564 572 N/A INTRINSIC
coiled coil region 610 679 N/A INTRINSIC
PH 723 827 1.31e-17 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000134465
AA Change: S960R

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000117395
Gene: ENSMUSG00000048537
AA Change: S960R

DomainStartEndE-ValueType
PDB:2EH0|A 40 139 3e-10 PDB
Blast:FHA 63 110 8e-21 BLAST
low complexity region 181 192 N/A INTRINSIC
low complexity region 252 273 N/A INTRINSIC
low complexity region 296 316 N/A INTRINSIC
internal_repeat_1 321 354 6.75e-5 PROSPERO
internal_repeat_1 401 449 6.75e-5 PROSPERO
low complexity region 459 477 N/A INTRINSIC
low complexity region 590 617 N/A INTRINSIC
low complexity region 694 707 N/A INTRINSIC
coiled coil region 715 798 N/A INTRINSIC
low complexity region 819 829 N/A INTRINSIC
coiled coil region 865 904 N/A INTRINSIC
low complexity region 929 950 N/A INTRINSIC
low complexity region 1008 1022 N/A INTRINSIC
low complexity region 1056 1064 N/A INTRINSIC
coiled coil region 1103 1172 N/A INTRINSIC
PH 1215 1319 1.31e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000135436
AA Change: S131R

PolyPhen 2 Score 0.379 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000120023
Gene: ENSMUSG00000048537
AA Change: S131R

DomainStartEndE-ValueType
low complexity region 67 85 N/A INTRINSIC
low complexity region 100 121 N/A INTRINSIC
low complexity region 179 193 N/A INTRINSIC
low complexity region 227 235 N/A INTRINSIC
coiled coil region 274 343 N/A INTRINSIC
PH 386 490 1.31e-17 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000138356
AA Change: S1063R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000120208
Gene: ENSMUSG00000048537
AA Change: S1063R

DomainStartEndE-ValueType
PDB:2EH0|A 40 139 4e-10 PDB
Blast:FHA 63 110 6e-21 BLAST
low complexity region 181 192 N/A INTRINSIC
low complexity region 252 273 N/A INTRINSIC
low complexity region 296 316 N/A INTRINSIC
internal_repeat_1 321 354 4.93e-5 PROSPERO
internal_repeat_1 401 449 4.93e-5 PROSPERO
low complexity region 459 477 N/A INTRINSIC
low complexity region 590 617 N/A INTRINSIC
low complexity region 694 707 N/A INTRINSIC
coiled coil region 715 798 N/A INTRINSIC
low complexity region 819 829 N/A INTRINSIC
coiled coil region 865 904 N/A INTRINSIC
low complexity region 931 948 N/A INTRINSIC
low complexity region 999 1017 N/A INTRINSIC
low complexity region 1032 1053 N/A INTRINSIC
low complexity region 1111 1125 N/A INTRINSIC
low complexity region 1159 1167 N/A INTRINSIC
coiled coil region 1206 1286 N/A INTRINSIC
PH 1329 1444 6.01e-17 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000144251
AA Change: S320R

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000114773
Gene: ENSMUSG00000048537
AA Change: S320R

DomainStartEndE-ValueType
low complexity region 11 24 N/A INTRINSIC
coiled coil region 32 115 N/A INTRINSIC
coiled coil region 146 174 N/A INTRINSIC
low complexity region 179 189 N/A INTRINSIC
coiled coil region 225 264 N/A INTRINSIC
low complexity region 289 310 N/A INTRINSIC
low complexity region 368 382 N/A INTRINSIC
low complexity region 416 424 N/A INTRINSIC
coiled coil region 463 532 N/A INTRINSIC
PH 575 679 1.31e-17 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000147495
AA Change: S1007R

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000122661
Gene: ENSMUSG00000048537
AA Change: S1007R

DomainStartEndE-ValueType
PDB:2EH0|A 40 139 4e-10 PDB
Blast:FHA 63 110 6e-21 BLAST
low complexity region 181 192 N/A INTRINSIC
low complexity region 252 273 N/A INTRINSIC
low complexity region 296 316 N/A INTRINSIC
internal_repeat_1 321 354 5e-5 PROSPERO
internal_repeat_1 401 449 5e-5 PROSPERO
low complexity region 459 477 N/A INTRINSIC
low complexity region 590 617 N/A INTRINSIC
low complexity region 694 707 N/A INTRINSIC
coiled coil region 715 798 N/A INTRINSIC
low complexity region 819 829 N/A INTRINSIC
coiled coil region 865 904 N/A INTRINSIC
low complexity region 943 961 N/A INTRINSIC
low complexity region 976 997 N/A INTRINSIC
low complexity region 1055 1069 N/A INTRINSIC
low complexity region 1103 1111 N/A INTRINSIC
coiled coil region 1150 1219 N/A INTRINSIC
PH 1262 1377 6.01e-17 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000148344
AA Change: S751R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121809
Gene: ENSMUSG00000048537
AA Change: S751R

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
low complexity region 41 61 N/A INTRINSIC
internal_repeat_1 66 99 6.7e-6 PROSPERO
internal_repeat_1 146 194 6.7e-6 PROSPERO
low complexity region 204 222 N/A INTRINSIC
low complexity region 335 362 N/A INTRINSIC
low complexity region 439 452 N/A INTRINSIC
coiled coil region 459 542 N/A INTRINSIC
low complexity region 564 574 N/A INTRINSIC
coiled coil region 609 648 N/A INTRINSIC
low complexity region 688 706 N/A INTRINSIC
low complexity region 721 742 N/A INTRINSIC
low complexity region 792 805 N/A INTRINSIC
low complexity region 815 829 N/A INTRINSIC
low complexity region 863 871 N/A INTRINSIC
coiled coil region 909 978 N/A INTRINSIC
PH 1022 1126 1.31e-17 SMART
Predicted Effect unknown
Transcript: ENSMUST00000154723
AA Change: S260R
SMART Domains Protein: ENSMUSP00000116987
Gene: ENSMUSG00000048537
AA Change: S260R

DomainStartEndE-ValueType
coiled coil region 39 67 N/A INTRINSIC
low complexity region 72 82 N/A INTRINSIC
coiled coil region 118 157 N/A INTRINSIC
low complexity region 197 212 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000156918
AA Change: S277R

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000120092
Gene: ENSMUSG00000048537
AA Change: S277R

DomainStartEndE-ValueType
low complexity region 11 24 N/A INTRINSIC
coiled coil region 32 115 N/A INTRINSIC
low complexity region 136 146 N/A INTRINSIC
coiled coil region 182 221 N/A INTRINSIC
low complexity region 246 267 N/A INTRINSIC
low complexity region 325 339 N/A INTRINSIC
low complexity region 373 381 N/A INTRINSIC
coiled coil region 420 489 N/A INTRINSIC
PH 532 636 1.31e-17 SMART
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 98.9%
  • 20x: 96.9%
Validation Efficiency 100% (61/61)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 C A 4: 129,903,284 (GRCm39) Q603K probably damaging Het
Adgrf3 A G 5: 30,402,519 (GRCm39) F503S probably damaging Het
Arfgap3 A T 15: 83,214,794 (GRCm39) M164K probably benign Het
Asb13 G T 13: 3,695,029 (GRCm39) V166F probably damaging Het
Atm T G 9: 53,408,535 (GRCm39) R1103S probably benign Het
Atxn7l1 T C 12: 33,417,123 (GRCm39) I626T probably damaging Het
Brsk2 A G 7: 141,556,214 (GRCm39) I649V probably benign Het
Ccdc25 T A 14: 66,093,882 (GRCm39) M85K probably benign Het
Cdc42bpb A G 12: 111,294,049 (GRCm39) V231A probably damaging Het
Clstn3 T A 6: 124,413,894 (GRCm39) M767L probably benign Het
Col6a6 C T 9: 105,661,140 (GRCm39) R323K probably benign Het
Cplane1 T A 15: 8,258,766 (GRCm39) N2337K probably benign Het
Creld1 A G 6: 113,466,530 (GRCm39) Y199C probably damaging Het
Csf1r T A 18: 61,245,806 (GRCm39) D254E probably benign Het
Dab2ip C T 2: 35,620,485 (GRCm39) Q1118* probably null Het
Dcun1d4 C A 5: 73,678,300 (GRCm39) S98R possibly damaging Het
Disp3 G A 4: 148,344,387 (GRCm39) P505L probably benign Het
Dlec1 A T 9: 118,941,170 (GRCm39) Q240L probably benign Het
Dnai4 T C 4: 102,905,523 (GRCm39) K753E probably benign Het
Edil3 T A 13: 89,437,575 (GRCm39) I392N probably damaging Het
Epha10 T A 4: 124,796,486 (GRCm39) S398R Het
Ephb1 A G 9: 101,887,247 (GRCm39) I464T possibly damaging Het
Eps15 T A 4: 109,137,599 (GRCm39) probably null Het
Fam111a T A 19: 12,564,706 (GRCm39) C152S probably damaging Het
Flt3 T C 5: 147,291,653 (GRCm39) E599G probably damaging Het
Frmd3 T C 4: 74,077,482 (GRCm39) S259P probably benign Het
Hsfy2 A G 1: 56,675,461 (GRCm39) Y359H possibly damaging Het
Ifih1 C T 2: 62,476,037 (GRCm39) V80M possibly damaging Het
Il12rb2 A C 6: 67,269,358 (GRCm39) D818E probably damaging Het
Il4i1 A G 7: 44,489,236 (GRCm39) T334A probably benign Het
Irs2 G A 8: 11,054,659 (GRCm39) Q1258* probably null Het
Lsm1 T G 8: 26,283,721 (GRCm39) H44Q probably benign Het
Mgam A T 6: 40,727,099 (GRCm39) M1257L probably damaging Het
Myc T C 15: 61,860,001 (GRCm39) S225P probably damaging Het
Myh1 T C 11: 67,111,286 (GRCm39) V1575A probably benign Het
Myo9b A G 8: 71,775,949 (GRCm39) D380G probably damaging Het
Ncoa7 T A 10: 30,572,188 (GRCm39) D157V probably damaging Het
Or10g9b T A 9: 39,917,753 (GRCm39) H164L probably benign Het
Or2t44 G T 11: 58,677,472 (GRCm39) Q137H probably benign Het
Or7g16 G A 9: 18,727,188 (GRCm39) T134M probably benign Het
Or8b36 T C 9: 37,937,129 (GRCm39) V9A probably damaging Het
Or8b9 A C 9: 37,766,810 (GRCm39) E232A possibly damaging Het
Pccb A G 9: 100,905,268 (GRCm39) V117A probably damaging Het
Pdp2 C T 8: 105,321,131 (GRCm39) H327Y probably damaging Het
Pdzph1 G T 17: 59,281,431 (GRCm39) Q284K probably benign Het
Phka2 G A X: 159,316,044 (GRCm39) V230I probably damaging Het
Pira1 T C 7: 3,739,002 (GRCm39) H535R probably benign Het
Ppp1r1b T A 11: 98,240,002 (GRCm39) probably null Het
Ppp1r3a A G 6: 14,719,570 (GRCm39) V448A probably benign Het
Pvrig-ps A T 5: 138,340,312 (GRCm39) T28S probably benign Het
Rasgrf1 G A 9: 89,892,537 (GRCm39) probably null Het
Scnn1g T C 7: 121,339,576 (GRCm39) L125S probably damaging Het
Slc30a7 A T 3: 115,775,460 (GRCm39) D221E probably benign Het
Spata31e1 T A 13: 49,940,872 (GRCm39) R279S probably benign Het
Tmem30c A G 16: 57,101,622 (GRCm39) probably null Het
Tmem33 T C 5: 67,421,802 (GRCm39) probably null Het
Ttc29 A T 8: 79,060,249 (GRCm39) T390S probably benign Het
Vamp5 G A 6: 72,357,424 (GRCm39) probably benign Het
Vmn2r81 T A 10: 79,104,439 (GRCm39) F354Y probably benign Het
Vmn2r96 A G 17: 18,802,116 (GRCm39) H119R probably benign Het
Wdr3 G A 3: 100,046,041 (GRCm39) R931* probably null Het
Wtap A T 17: 13,186,397 (GRCm39) N383K probably damaging Het
Zfp808 T C 13: 62,320,849 (GRCm39) Y693H probably damaging Het
Other mutations in Phldb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00549:Phldb1 APN 9 44,622,443 (GRCm39) critical splice donor site probably null
IGL01089:Phldb1 APN 9 44,619,184 (GRCm39) nonsense probably null
IGL01374:Phldb1 APN 9 44,607,464 (GRCm39) missense probably damaging 0.98
IGL01654:Phldb1 APN 9 44,629,654 (GRCm39) splice site probably null
IGL02148:Phldb1 APN 9 44,607,369 (GRCm39) missense probably damaging 0.99
IGL02408:Phldb1 APN 9 44,627,203 (GRCm39) missense possibly damaging 0.50
IGL02429:Phldb1 APN 9 44,612,247 (GRCm39) missense probably damaging 1.00
IGL02440:Phldb1 APN 9 44,626,700 (GRCm39) missense probably damaging 0.99
IGL02457:Phldb1 APN 9 44,627,771 (GRCm39) missense probably benign 0.00
IGL02471:Phldb1 APN 9 44,622,530 (GRCm39) missense probably damaging 1.00
IGL02506:Phldb1 APN 9 44,622,223 (GRCm39) missense probably benign 0.00
IGL03335:Phldb1 APN 9 44,639,366 (GRCm39) missense possibly damaging 0.95
PIT4515001:Phldb1 UTSW 9 44,627,257 (GRCm39) missense probably benign 0.00
R0070:Phldb1 UTSW 9 44,619,201 (GRCm39) missense probably damaging 1.00
R0117:Phldb1 UTSW 9 44,623,003 (GRCm39) start codon destroyed probably null
R0344:Phldb1 UTSW 9 44,612,964 (GRCm39) missense probably benign 0.14
R0364:Phldb1 UTSW 9 44,610,632 (GRCm39) splice site probably benign
R0622:Phldb1 UTSW 9 44,627,149 (GRCm39) missense probably damaging 1.00
R0737:Phldb1 UTSW 9 44,610,933 (GRCm39) missense possibly damaging 0.92
R1449:Phldb1 UTSW 9 44,627,930 (GRCm39) missense probably benign 0.17
R1498:Phldb1 UTSW 9 44,612,915 (GRCm39) missense possibly damaging 0.70
R1633:Phldb1 UTSW 9 44,629,619 (GRCm39) missense probably damaging 1.00
R1647:Phldb1 UTSW 9 44,626,730 (GRCm39) missense probably damaging 1.00
R1692:Phldb1 UTSW 9 44,626,717 (GRCm39) missense probably damaging 1.00
R1749:Phldb1 UTSW 9 44,627,045 (GRCm39) missense probably damaging 1.00
R1797:Phldb1 UTSW 9 44,627,842 (GRCm39) missense probably damaging 0.99
R2012:Phldb1 UTSW 9 44,639,333 (GRCm39) missense possibly damaging 0.67
R2078:Phldb1 UTSW 9 44,619,276 (GRCm39) missense probably damaging 1.00
R2208:Phldb1 UTSW 9 44,607,428 (GRCm39) missense probably damaging 1.00
R2567:Phldb1 UTSW 9 44,637,322 (GRCm39) missense probably damaging 0.99
R2696:Phldb1 UTSW 9 44,629,585 (GRCm39) missense probably damaging 1.00
R3705:Phldb1 UTSW 9 44,605,691 (GRCm39) missense probably damaging 0.97
R4110:Phldb1 UTSW 9 44,627,128 (GRCm39) missense possibly damaging 0.88
R4772:Phldb1 UTSW 9 44,622,324 (GRCm39) missense probably damaging 1.00
R4857:Phldb1 UTSW 9 44,607,389 (GRCm39) missense probably damaging 0.99
R5148:Phldb1 UTSW 9 44,615,455 (GRCm39) missense probably benign 0.04
R5651:Phldb1 UTSW 9 44,623,200 (GRCm39) missense probably damaging 1.00
R5666:Phldb1 UTSW 9 44,627,078 (GRCm39) missense probably damaging 0.97
R5670:Phldb1 UTSW 9 44,627,078 (GRCm39) missense probably damaging 0.97
R5914:Phldb1 UTSW 9 44,622,948 (GRCm39) missense probably damaging 0.97
R6232:Phldb1 UTSW 9 44,607,414 (GRCm39) missense probably damaging 1.00
R6257:Phldb1 UTSW 9 44,607,437 (GRCm39) missense probably damaging 0.99
R6413:Phldb1 UTSW 9 44,607,440 (GRCm39) missense probably damaging 1.00
R6418:Phldb1 UTSW 9 44,623,197 (GRCm39) missense probably damaging 1.00
R6845:Phldb1 UTSW 9 44,627,359 (GRCm39) missense probably damaging 1.00
R7009:Phldb1 UTSW 9 44,605,705 (GRCm39) missense probably damaging 1.00
R7042:Phldb1 UTSW 9 44,605,721 (GRCm39) missense probably damaging 1.00
R7062:Phldb1 UTSW 9 44,607,432 (GRCm39) missense probably damaging 0.99
R7077:Phldb1 UTSW 9 44,623,201 (GRCm39) missense possibly damaging 0.62
R7307:Phldb1 UTSW 9 44,605,344 (GRCm39) missense possibly damaging 0.62
R7995:Phldb1 UTSW 9 44,626,669 (GRCm39) missense probably damaging 1.00
R8108:Phldb1 UTSW 9 44,622,458 (GRCm39) missense probably damaging 1.00
R8433:Phldb1 UTSW 9 44,627,759 (GRCm39) missense probably damaging 1.00
R9151:Phldb1 UTSW 9 44,619,740 (GRCm39) missense probably null 0.01
R9366:Phldb1 UTSW 9 44,622,546 (GRCm39) missense possibly damaging 0.93
R9378:Phldb1 UTSW 9 44,615,425 (GRCm39) missense probably benign 0.01
R9448:Phldb1 UTSW 9 44,622,546 (GRCm39) missense possibly damaging 0.93
R9539:Phldb1 UTSW 9 44,627,482 (GRCm39) missense probably damaging 1.00
R9641:Phldb1 UTSW 9 44,627,839 (GRCm39) missense probably damaging 1.00
RF020:Phldb1 UTSW 9 44,609,243 (GRCm39) missense probably damaging 1.00
X0020:Phldb1 UTSW 9 44,598,974 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAATGTCCTGCAGTGTGG -3'
(R):5'- TTGGATCACAGCTGGGTTAG -3'

Sequencing Primer
(F):5'- CAGTGTGGCTGCCAGGTTG -3'
(R):5'- TGTGACATGGCAGCCAGTG -3'
Posted On 2018-09-12