Incidental Mutation 'R1501:Phldb2'
ID 169305
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 040867-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1501 (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 C at 45598146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 802 (N802S)
Ref Sequence ENSEMBL: ENSMUSP00000075672 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036355] [ENSMUST00000076333] [ENSMUST00000134802] [ENSMUST00000142697]
AlphaFold Q8K1N2
Predicted Effect probably damaging
Transcript: ENSMUST00000036355
AA Change: N802S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000046496
Gene: ENSMUSG00000033149
AA Change: N802S

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: N802S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000075672
Gene: ENSMUSG00000033149
AA Change: N802S

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: N165S
SMART Domains Protein: ENSMUSP00000119718
Gene: ENSMUSG00000033149
AA Change: N165S

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 noncoding transcript
Transcript: ENSMUST00000133111
Predicted Effect possibly damaging
Transcript: ENSMUST00000134802
AA Change: N847S

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000123284
Gene: ENSMUSG00000033149
AA Change: N847S

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: ENSMUST00000142697
SMART Domains Protein: ENSMUSP00000121981
Gene: ENSMUSG00000033149

DomainStartEndE-ValueType
SCOP:d1k4wa_ 25 116 5e-3 SMART
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 A T 14: 78,750,787 (GRCm39) S533R probably benign Het
Amph C T 13: 19,288,461 (GRCm39) Q317* probably null Het
Bach2 A G 4: 32,562,279 (GRCm39) T249A possibly damaging Het
Cacna2d3 A G 14: 28,703,137 (GRCm39) C845R probably damaging Het
Calml4 A G 9: 62,778,622 (GRCm39) K12E probably benign Het
Chrd C T 16: 20,556,283 (GRCm39) R615W probably damaging Het
Chst15 T A 7: 131,870,798 (GRCm39) K246* probably null Het
Cmtr2 G A 8: 110,948,235 (GRCm39) D182N probably benign Het
Cyp2d9 C A 15: 82,338,525 (GRCm39) C186* probably null Het
Cyp3a13 G T 5: 137,909,892 (GRCm39) probably null Het
Dcaf17 A T 2: 70,912,332 (GRCm39) I320F probably damaging Het
Ddx10 T C 9: 53,145,297 (GRCm39) I227V possibly damaging Het
Dlc1 G T 8: 37,405,302 (GRCm39) N162K probably benign Het
Dnhd1 G A 7: 105,317,670 (GRCm39) R455H probably benign Het
Drg2 G T 11: 60,355,679 (GRCm39) A306S probably benign Het
Dsg1a A T 18: 20,465,076 (GRCm39) R422S probably damaging Het
Ehbp1l1 A G 19: 5,766,452 (GRCm39) V353A probably damaging Het
Emilin2 T C 17: 71,617,756 (GRCm39) S34G probably benign Het
Enpp2 C A 15: 54,702,910 (GRCm39) W862L probably damaging Het
Exoc2 T C 13: 31,119,485 (GRCm39) I139V probably benign Het
Fhad1 C T 4: 141,691,936 (GRCm39) R400H probably benign Het
Fv1 C T 4: 147,954,595 (GRCm39) T387M probably damaging Het
Gatad1 T A 5: 3,693,701 (GRCm39) D156V probably damaging Het
Gm4744 A G 6: 40,927,367 (GRCm39) probably benign Het
Gm4799 G A 10: 82,790,469 (GRCm39) noncoding transcript Het
Hadha A G 5: 30,333,804 (GRCm39) F405S probably benign Het
Ifit3 T C 19: 34,565,651 (GRCm39) V399A probably benign Het
Il1rapl1 G T X: 86,348,469 (GRCm39) Y150* probably null Het
Kirrel1 T C 3: 86,997,779 (GRCm39) E248G probably benign Het
Krt72 C A 15: 101,686,769 (GRCm39) K392N probably damaging Het
Loxhd1 G A 18: 77,444,528 (GRCm39) G309D probably damaging Het
Mc3r T G 2: 172,091,300 (GRCm39) I174S probably benign Het
Me3 A G 7: 89,282,273 (GRCm39) D52G probably benign Het
Med12l T C 3: 59,168,256 (GRCm39) probably null Het
Mgat5 G A 1: 127,325,378 (GRCm39) probably null Het
Mphosph10 A T 7: 64,039,252 (GRCm39) F239L probably damaging Het
Mrps7 T C 11: 115,495,023 (GRCm39) S13P probably benign Het
Nexn T C 3: 151,943,323 (GRCm39) T527A possibly damaging Het
Nlrp1b G A 11: 71,046,885 (GRCm39) H1156Y probably damaging Het
Nostrin A G 2: 68,989,129 (GRCm39) E120G probably damaging Het
Nsun2 A G 13: 69,779,706 (GRCm39) E624G probably damaging Het
Oga T C 19: 45,767,079 (GRCm39) D99G probably null Het
Or4c102 G A 2: 88,422,492 (GRCm39) V115I possibly damaging Het
Or4k2 A G 14: 50,424,539 (GRCm39) I45T probably damaging Het
Or52n4b G A 7: 108,143,782 (GRCm39) V15I probably benign Het
Or5p70 A C 7: 107,995,289 (GRCm39) K321Q probably benign Het
Pik3c2g T C 6: 139,789,796 (GRCm39) probably null Het
Pikfyve T A 1: 65,304,443 (GRCm39) I1670N possibly damaging Het
Pld5 A G 1: 175,803,087 (GRCm39) F393L probably benign Het
Plekhg1 C A 10: 3,907,361 (GRCm39) D759E probably benign Het
Plekhm1 A G 11: 103,277,888 (GRCm39) S403P probably benign Het
Pop1 T C 15: 34,510,503 (GRCm39) F432L probably benign Het
Ptpn13 T C 5: 103,664,230 (GRCm39) I406T probably benign Het
Ptpn5 G T 7: 46,739,623 (GRCm39) D185E probably benign Het
Rad50 G T 11: 53,578,978 (GRCm39) Q527K possibly damaging Het
Scn7a A G 2: 66,530,507 (GRCm39) F613L probably benign Het
Sec16a T A 2: 26,330,057 (GRCm39) M653L probably benign Het
Sh3bp2 T C 5: 34,712,920 (GRCm39) probably null Het
Slc22a3 G A 17: 12,725,991 (GRCm39) T74I probably benign Het
Slc23a4 A G 6: 34,932,057 (GRCm39) L272P probably damaging Het
Slc26a8 T C 17: 28,857,536 (GRCm39) D869G possibly damaging Het
Slc5a11 T A 7: 122,859,731 (GRCm39) V291E probably damaging Het
Slc6a19 C A 13: 73,832,167 (GRCm39) A470S probably benign Het
Slfn8 A G 11: 82,894,006 (GRCm39) S878P probably damaging Het
Smchd1 A G 17: 71,672,089 (GRCm39) M1655T possibly damaging Het
Srgap2 A G 1: 131,220,437 (GRCm39) L179P probably damaging Het
Tbx2 A G 11: 85,725,622 (GRCm39) D191G probably damaging Het
Tenm3 A G 8: 48,796,351 (GRCm39) Y485H probably damaging Het
Trim12c T A 7: 103,990,095 (GRCm39) probably benign Het
Trpc6 A G 9: 8,610,170 (GRCm39) T213A probably damaging Het
Upp1 T A 11: 9,084,708 (GRCm39) probably null Het
Vmn1r46 A T 6: 89,953,198 (GRCm39) I16L probably benign Het
Vmn2r75 A T 7: 85,814,850 (GRCm39) D214E possibly damaging Het
Vmn2r95 T A 17: 18,660,118 (GRCm39) Y177N probably damaging Het
Vmn2r99 T G 17: 19,582,521 (GRCm39) I42S possibly damaging Het
Zeb1 A T 18: 5,761,399 (GRCm39) K232N possibly damaging Het
Zfp280b T C 10: 75,875,603 (GRCm39) I494T probably damaging Het
Zfp804a A G 2: 82,066,143 (GRCm39) D38G 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
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'- ACCCCTGGATTCCTATACGCACAG -3'
(R):5'- TGCCATTCTCGGCTTCATTTAGGAC -3'

Sequencing Primer
(F):5'- CTGGATTCCTATACGCACAGATAAG -3'
(R):5'- CATGCATCCTATCGGCTAAGAGTAG -3'
Posted On 2014-04-13