Incidental Mutation 'R1444:Phldb2'
ID 158736
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 039499-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1444 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 45566606-45773961 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 45577616 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123284 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036355] [ENSMUST00000076333] [ENSMUST00000134802]
AlphaFold Q8K1N2
Predicted Effect probably benign
Transcript: ENSMUST00000036355
SMART Domains Protein: ENSMUSP00000046496
Gene: ENSMUSG00000033149

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 benign
Transcript: ENSMUST00000076333
SMART Domains Protein: ENSMUSP00000075672
Gene: ENSMUSG00000033149

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 benign
Transcript: ENSMUST00000131003
SMART Domains Protein: ENSMUSP00000119718
Gene: ENSMUSG00000033149

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 benign
Transcript: ENSMUST00000134802
SMART Domains Protein: ENSMUSP00000123284
Gene: ENSMUSG00000033149

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: 98.8%
  • 3x: 97.7%
  • 10x: 94.4%
  • 20x: 86.1%
Validation Efficiency 98% (59/60)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik A T 8: 73,205,230 (GRCm39) D347V probably damaging Het
A630010A05Rik T A 16: 14,427,558 (GRCm39) F82I possibly damaging Het
Acad9 T A 3: 36,132,657 (GRCm39) F297L possibly damaging Het
Adgrl3 A T 5: 81,660,200 (GRCm39) Y323F probably damaging Het
Brca2 T A 5: 150,465,915 (GRCm39) M1893K probably benign Het
Cactin A T 10: 81,158,270 (GRCm39) probably null Het
Cadm4 A G 7: 24,203,046 (GRCm39) *389W probably null Het
Calr4 A G 4: 109,103,438 (GRCm39) T183A possibly damaging Het
Card10 A T 15: 78,672,041 (GRCm39) probably benign Het
Cdh6 C A 15: 13,091,924 (GRCm39) G14C probably benign Het
Cds1 A G 5: 101,946,245 (GRCm39) Y148C probably damaging Het
Chd1l C T 3: 97,490,047 (GRCm39) E503K probably benign Het
Cr1l A T 1: 194,813,510 (GRCm39) L35Q probably damaging Het
Daam2 T C 17: 49,787,779 (GRCm39) R445G possibly damaging Het
Ddn G A 15: 98,704,485 (GRCm39) T269M probably damaging Het
Epb41 G A 4: 131,733,382 (GRCm39) S176L probably benign Het
Ephx2 T C 14: 66,344,769 (GRCm39) D167G probably damaging Het
Erbb4 G A 1: 68,293,759 (GRCm39) R711C probably damaging Het
Flg2 T A 3: 93,109,620 (GRCm39) H549Q unknown Het
Gje1 A G 10: 14,592,380 (GRCm39) probably null Het
Heatr5b G A 17: 79,060,622 (GRCm39) H2018Y probably benign Het
Heatr5b A T 17: 79,062,856 (GRCm39) probably benign Het
Hectd3 G T 4: 116,853,593 (GRCm39) R189L probably benign Het
Hsd3b6 T C 3: 98,715,237 (GRCm39) T52A probably benign Het
Il10rb T G 16: 91,218,675 (GRCm39) probably null Het
Kcnc2 T C 10: 112,291,506 (GRCm39) probably benign Het
Lpl T A 8: 69,345,399 (GRCm39) D134E probably damaging Het
Lrit1 T C 14: 36,783,928 (GRCm39) F419L probably benign Het
Mmp8 T C 9: 7,567,264 (GRCm39) C422R probably benign Het
Myo18b A G 5: 112,923,117 (GRCm39) probably null Het
Ncor1 T A 11: 62,294,632 (GRCm39) I280F probably damaging Het
Obox2 A C 7: 15,130,957 (GRCm39) Q63P possibly damaging Het
Or2ad1 C T 13: 21,326,337 (GRCm39) V297I probably benign Het
Or4d2b T A 11: 87,780,585 (GRCm39) I46L probably benign Het
Pkd1l1 A G 11: 8,804,386 (GRCm39) F1735S probably damaging Het
Pramel11 G T 4: 143,623,461 (GRCm39) L238I probably benign Het
Prss30 T C 17: 24,192,712 (GRCm39) Y156C probably damaging Het
Rnf213 T C 11: 119,333,226 (GRCm39) S2812P probably damaging Het
Rttn A G 18: 89,060,991 (GRCm39) D1053G probably benign Het
Slc6a2 A G 8: 93,697,882 (GRCm39) N120S probably damaging Het
Snrnp200 T C 2: 127,070,158 (GRCm39) probably benign Het
Spindoc G T 19: 7,360,086 (GRCm39) D27E probably benign Het
Svep1 T C 4: 58,115,754 (GRCm39) T980A possibly damaging Het
Tgfbr1 A G 4: 47,393,259 (GRCm39) E46G probably benign Het
Tmem183a T C 1: 134,289,284 (GRCm39) I49V probably benign Het
Tmem212 C T 3: 27,939,244 (GRCm39) V81I possibly damaging Het
Toporsl T A 4: 52,610,254 (GRCm39) I49N probably benign Het
Trim67 A G 8: 125,549,932 (GRCm39) T521A probably benign Het
Vsnl1 T C 12: 11,382,219 (GRCm39) probably null Het
Wdr87-ps T C 7: 29,229,380 (GRCm39) noncoding transcript Het
Xrn2 C T 2: 146,903,408 (GRCm39) R803W probably damaging Het
Zfp131 A T 13: 120,251,784 (GRCm39) C9S probably damaging Het
Zfp750 C T 11: 121,402,873 (GRCm39) S625N probably damaging Het
Zfp871 G T 17: 32,993,900 (GRCm39) T406N possibly 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
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
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'- ACTCTGATAGACCAACCTGTGCCC -3'
(R):5'- AGAGAGTCTCCCAGAGAACAGCTTC -3'

Sequencing Primer
(F):5'- CAACCTGTGCCCTTTGTTTC -3'
(R):5'- AACAGCTTCATGGCTAGGGC -3'
Posted On 2014-03-14