Incidental Mutation 'R2696:Phldb1'
ID 251074
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 040434-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R2696 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 44597601-44646495 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44629585 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 156 (Y156C)
Ref Sequence ENSEMBL: ENSMUSP00000120208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034611] [ENSMUST00000123406] [ENSMUST00000134465] [ENSMUST00000138356] [ENSMUST00000147495] [ENSMUST00000148929]
AlphaFold Q6PDH0
Predicted Effect probably damaging
Transcript: ENSMUST00000034611
AA Change: Y156C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034611
Gene: ENSMUSG00000048537
AA Change: Y156C

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 damaging
Transcript: ENSMUST00000123406
AA Change: Y36C

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000114257
Gene: ENSMUSG00000048537
AA Change: Y36C

DomainStartEndE-ValueType
low complexity region 61 72 N/A INTRINSIC
low complexity region 132 153 N/A INTRINSIC
low complexity region 176 196 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126818
Predicted Effect probably benign
Transcript: ENSMUST00000128326
SMART Domains Protein: ENSMUSP00000119966
Gene: ENSMUSG00000048537

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 probably damaging
Transcript: ENSMUST00000134465
AA Change: Y156C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117395
Gene: ENSMUSG00000048537
AA Change: Y156C

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 damaging
Transcript: ENSMUST00000138356
AA Change: Y156C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120208
Gene: ENSMUSG00000048537
AA Change: Y156C

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 probably damaging
Transcript: ENSMUST00000147495
AA Change: Y156C

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000122661
Gene: ENSMUSG00000048537
AA Change: Y156C

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 possibly damaging
Transcript: ENSMUST00000148929
AA Change: Y36C

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000114533
Gene: ENSMUSG00000048537
AA Change: Y36C

DomainStartEndE-ValueType
low complexity region 61 72 N/A INTRINSIC
low complexity region 132 153 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000148344
SMART Domains Protein: ENSMUSP00000121809
Gene: ENSMUSG00000048537

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 noncoding transcript
Transcript: ENSMUST00000214717
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A T 16: 4,668,228 (GRCm39) T540S probably benign Het
Acp7 G T 7: 28,314,001 (GRCm39) H369Q probably benign Het
Adgrg3 A G 8: 95,747,702 (GRCm39) N65S probably benign Het
Anln A G 9: 22,272,259 (GRCm39) V620A probably benign Het
Atp10a T A 7: 58,463,366 (GRCm39) S966R probably benign Het
Atp8b3 T A 10: 80,370,017 (GRCm39) Q132L possibly damaging Het
Col4a1 T A 8: 11,285,092 (GRCm39) probably null Het
Ddx21 T C 10: 62,429,871 (GRCm39) H291R possibly damaging Het
Dlgap3 A G 4: 127,088,416 (GRCm39) Y4C probably damaging Het
Dnah5 A G 15: 28,278,722 (GRCm39) N1106D probably benign Het
Esyt1 T C 10: 128,352,914 (GRCm39) D662G probably damaging Het
F830016B08Rik T A 18: 60,433,808 (GRCm39) V297E possibly damaging Het
Faf1 T A 4: 109,698,525 (GRCm39) N328K possibly damaging Het
Gdf3 A C 6: 122,583,859 (GRCm39) F169L probably benign Het
Ifi213 G A 1: 173,417,590 (GRCm39) T274I probably benign Het
Igf2r T C 17: 12,914,231 (GRCm39) D1746G possibly damaging Het
Ighv1-75 T C 12: 115,797,826 (GRCm39) K32R probably benign Het
Ipo8 T A 6: 148,698,239 (GRCm39) Q594L probably benign Het
Krt87 A T 15: 101,384,890 (GRCm39) I402N probably benign Het
Med18 G A 4: 132,187,281 (GRCm39) R118W probably damaging Het
Mmrn2 A G 14: 34,120,372 (GRCm39) E414G probably damaging Het
Myo6 A G 9: 80,168,176 (GRCm39) T447A probably benign Het
Ncoa6 T C 2: 155,279,935 (GRCm39) E27G probably benign Het
Ngly1 T C 14: 16,283,439 (GRCm38) L406S possibly damaging Het
Or14j1 T C 17: 38,145,998 (GRCm39) I36T probably benign Het
Or51l4 A G 7: 103,404,735 (GRCm39) I19T probably damaging Het
Pkd2l1 T A 19: 44,145,708 (GRCm39) T172S probably benign Het
Pknox2 G A 9: 36,820,987 (GRCm39) R292* probably null Het
Plod3 G C 5: 137,017,000 (GRCm39) A50P probably benign Het
Polr3e T C 7: 120,532,600 (GRCm39) L212P probably damaging Het
Ppp4r4 A G 12: 103,547,653 (GRCm39) I215M possibly damaging Het
Psmg2 T C 18: 67,781,288 (GRCm39) Y127H possibly damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Ptp4a1 A T 1: 30,985,213 (GRCm39) M4K probably benign Het
R3hcc1l A T 19: 42,552,427 (GRCm39) I475L possibly damaging Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rsf1 GGC GGCGGCGGCGGC 7: 97,229,140 (GRCm39) probably benign Het
Sec63 T A 10: 42,659,522 (GRCm39) I70N probably benign Het
Slc2a5 A C 4: 150,205,203 (GRCm39) K4T probably benign Het
Slc4a3 A G 1: 75,532,119 (GRCm39) Y939C possibly damaging Het
Slc7a15 T C 12: 8,579,345 (GRCm39) *229W probably null Het
Slco1a6 C A 6: 142,058,662 (GRCm39) G206C probably damaging Het
Spata9 A G 13: 76,125,895 (GRCm39) Q126R probably benign Het
Speg A T 1: 75,383,570 (GRCm39) D1186V probably benign Het
Spink5 T G 18: 44,115,359 (GRCm39) M197R probably damaging Het
Stab2 T C 10: 86,697,363 (GRCm39) D1975G probably benign Het
Syngap1 T A 17: 27,176,385 (GRCm39) C224* probably null Het
Ttn T C 2: 76,698,807 (GRCm39) probably benign Het
Txnrd1 G A 10: 82,721,116 (GRCm39) E397K probably benign Het
Ugt2b36 A T 5: 87,237,344 (GRCm39) M313K probably damaging Het
Ulk3 A G 9: 57,497,724 (GRCm39) I74V possibly damaging Het
Zcchc4 T C 5: 52,953,573 (GRCm39) V194A probably damaging Het
Zfp27 C T 7: 29,595,792 (GRCm39) A58T possibly damaging Het
Zfp398 T G 6: 47,843,879 (GRCm39) *512E probably null 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
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
R6813:Phldb1 UTSW 9 44,610,865 (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'- ACTTCCCAGTTTGAGCCAAG -3'
(R):5'- AAGCTTGCTAGGATTGGTGAC -3'

Sequencing Primer
(F):5'- AAGCAGCAATGCCTTGGATCTTC -3'
(R):5'- TGACTGGGGTAGCTTCATCCC -3'
Posted On 2014-12-04