Incidental Mutation 'R5864:Phldb3'
ID 454063
Institutional Source Beutler Lab
Gene Symbol Phldb3
Ensembl Gene ENSMUSG00000074277
Gene Name pleckstrin homology like domain, family B, member 3
Synonyms Gm10102, EG232970
Accession Numbers
Essential gene? Probably non essential (E-score: 0.129) question?
Stock # R5864 (G1)
Quality Score 200
Status Not validated
Chromosome 7
Chromosomal Location 24310188-24328722 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 24323571 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 435 (H435L)
Ref Sequence ENSEMBL: ENSMUSP00000146187 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073325] [ENSMUST00000206422]
AlphaFold E9QAF4
Predicted Effect possibly damaging
Transcript: ENSMUST00000073325
AA Change: H435L

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000073047
Gene: ENSMUSG00000074277
AA Change: H435L

DomainStartEndE-ValueType
low complexity region 34 47 N/A INTRINSIC
low complexity region 61 74 N/A INTRINSIC
coiled coil region 111 302 N/A INTRINSIC
low complexity region 364 374 N/A INTRINSIC
Blast:PH 389 447 2e-29 BLAST
Blast:PH 457 488 4e-6 BLAST
low complexity region 490 514 N/A INTRINSIC
PH 541 645 1.54e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205330
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205857
Predicted Effect possibly damaging
Transcript: ENSMUST00000206422
AA Change: H435L

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot4 A T 12: 84,090,178 (GRCm39) I292F probably benign Het
Adamdec1 A G 14: 68,807,551 (GRCm39) S370P probably damaging Het
Ankar T C 1: 72,698,324 (GRCm39) K692R probably benign Het
Ano6 T C 15: 95,818,261 (GRCm39) probably null Het
Asns G A 6: 7,675,443 (GRCm39) Q520* probably null Het
Bbs12 C T 3: 37,373,639 (GRCm39) T144I probably damaging Het
C8g C T 2: 25,388,955 (GRCm39) G186D probably damaging Het
Clptm1l T C 13: 73,754,403 (GRCm39) F109S probably damaging Het
Coa8 G A 12: 111,717,652 (GRCm39) V171I probably benign Het
Col4a1 G A 8: 11,252,973 (GRCm39) probably benign Het
Cpn2 T C 16: 30,078,501 (GRCm39) D400G probably damaging Het
Dgke G C 11: 88,941,288 (GRCm39) Y298* probably null Het
Dnah5 G A 15: 28,297,159 (GRCm39) R1451Q possibly damaging Het
Dock8 A G 19: 25,038,584 (GRCm39) D90G probably damaging Het
Dok7 A C 5: 35,223,890 (GRCm39) D143A probably damaging Het
Elk3 G A 10: 93,120,653 (GRCm39) A62V probably damaging Het
Epha2 T A 4: 141,035,738 (GRCm39) M58K probably damaging Het
Erp27 G T 6: 136,885,098 (GRCm39) D233E probably benign Het
Gm5174 T A 10: 86,493,045 (GRCm39) noncoding transcript Het
Gxylt2 A G 6: 100,760,107 (GRCm39) D214G probably damaging Het
Hrob G A 11: 102,145,972 (GRCm39) E83K probably benign Het
Ifi35 A T 11: 101,349,069 (GRCm39) I238F probably damaging Het
Ighmbp2 T C 19: 3,311,467 (GRCm39) T983A probably benign Het
Itgb4 C T 11: 115,881,748 (GRCm39) R766W probably damaging Het
Lrp1 C A 10: 127,403,374 (GRCm39) K2066N possibly damaging Het
Mansc1 T G 6: 134,587,816 (GRCm39) probably null Het
Mapre3 T C 5: 31,020,582 (GRCm39) F101S probably damaging Het
Mettl8 T C 2: 70,812,357 (GRCm39) T58A probably benign Het
Mical1 G T 10: 41,362,064 (GRCm39) R857L possibly damaging Het
Nacad T C 11: 6,550,581 (GRCm39) D870G probably benign Het
Nectin1 A G 9: 43,702,607 (GRCm39) D118G probably damaging Het
Nlrp2 A T 7: 5,325,380 (GRCm39) L26Q probably damaging Het
Or10a3m A G 7: 108,312,671 (GRCm39) D25G probably benign Het
Pamr1 T C 2: 102,464,693 (GRCm39) S281P possibly damaging Het
Pcdhgc5 T A 18: 37,954,814 (GRCm39) V696E probably damaging Het
Pde4d G T 13: 110,074,582 (GRCm39) A396S probably benign Het
Pecam1 G T 11: 106,575,076 (GRCm39) C510* probably null Het
Pga5 C T 19: 10,652,513 (GRCm39) G76S probably damaging Het
Piezo1 T C 8: 123,213,112 (GRCm39) R1884G possibly damaging Het
Ripk4 T C 16: 97,564,782 (GRCm39) H43R probably damaging Het
Rtn3 A G 19: 7,412,476 (GRCm39) V785A probably damaging Het
Safb2 A G 17: 56,873,491 (GRCm39) probably benign Het
Sephs1 T C 2: 4,910,393 (GRCm39) F288L probably damaging Het
Sez6l A G 5: 112,586,266 (GRCm39) probably null Het
Siglece A G 7: 43,308,741 (GRCm39) L204P probably damaging Het
Sis T C 3: 72,857,151 (GRCm39) D380G probably damaging Het
Slamf9 G T 1: 172,304,033 (GRCm39) R126L probably benign Het
Sorl1 A G 9: 42,003,669 (GRCm39) L209P probably damaging Het
Sptbn1 A C 11: 30,095,925 (GRCm39) I310S probably damaging Het
Tex52 A G 6: 128,356,645 (GRCm39) T113A probably benign Het
Trav6-3 T A 14: 53,667,628 (GRCm39) Y33* probably null Het
Vmn2r102 A G 17: 19,914,943 (GRCm39) E836G possibly damaging Het
Wdsub1 C T 2: 59,708,819 (GRCm39) C18Y probably damaging Het
Zfp341 C A 2: 154,485,474 (GRCm39) H637N possibly damaging Het
Zfp445 C T 9: 122,682,552 (GRCm39) S463N probably benign Het
Zfp612 G A 8: 110,816,358 (GRCm39) D522N probably damaging Het
Other mutations in Phldb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01017:Phldb3 APN 7 24,328,295 (GRCm39) missense probably damaging 1.00
IGL01683:Phldb3 APN 7 24,318,862 (GRCm39) missense possibly damaging 0.71
IGL01732:Phldb3 APN 7 24,326,751 (GRCm39) missense probably damaging 1.00
IGL01765:Phldb3 APN 7 24,316,800 (GRCm39) missense possibly damaging 0.55
IGL03103:Phldb3 APN 7 24,323,601 (GRCm39) missense possibly damaging 0.71
FR4548:Phldb3 UTSW 7 24,328,403 (GRCm39) makesense probably null
R0052:Phldb3 UTSW 7 24,312,004 (GRCm39) missense probably benign 0.01
R0230:Phldb3 UTSW 7 24,312,004 (GRCm39) missense probably benign 0.01
R0234:Phldb3 UTSW 7 24,312,004 (GRCm39) missense probably benign 0.01
R0655:Phldb3 UTSW 7 24,323,797 (GRCm39) missense probably benign 0.07
R1731:Phldb3 UTSW 7 24,318,660 (GRCm39) missense probably benign 0.10
R1935:Phldb3 UTSW 7 24,316,832 (GRCm39) missense probably benign 0.01
R1936:Phldb3 UTSW 7 24,316,832 (GRCm39) missense probably benign 0.01
R2155:Phldb3 UTSW 7 24,312,070 (GRCm39) missense probably damaging 1.00
R2410:Phldb3 UTSW 7 24,323,719 (GRCm39) missense probably benign 0.01
R4249:Phldb3 UTSW 7 24,326,745 (GRCm39) missense probably damaging 1.00
R4501:Phldb3 UTSW 7 24,311,986 (GRCm39) missense probably benign
R4665:Phldb3 UTSW 7 24,310,852 (GRCm39) missense probably benign 0.00
R4916:Phldb3 UTSW 7 24,323,716 (GRCm39) missense probably benign
R4970:Phldb3 UTSW 7 24,324,110 (GRCm39) missense possibly damaging 0.73
R5017:Phldb3 UTSW 7 24,319,521 (GRCm39) missense probably damaging 1.00
R5112:Phldb3 UTSW 7 24,324,110 (GRCm39) missense possibly damaging 0.73
R5881:Phldb3 UTSW 7 24,326,147 (GRCm39) critical splice donor site probably null
R6176:Phldb3 UTSW 7 24,326,127 (GRCm39) missense probably damaging 1.00
R6756:Phldb3 UTSW 7 24,326,756 (GRCm39) missense probably damaging 1.00
R6800:Phldb3 UTSW 7 24,323,577 (GRCm39) missense possibly damaging 0.93
R7223:Phldb3 UTSW 7 24,324,078 (GRCm39) missense probably benign
R7485:Phldb3 UTSW 7 24,310,689 (GRCm39) start gained probably benign
R7707:Phldb3 UTSW 7 24,326,022 (GRCm39) missense possibly damaging 0.80
R8094:Phldb3 UTSW 7 24,326,134 (GRCm39) missense probably damaging 1.00
R8437:Phldb3 UTSW 7 24,328,375 (GRCm39) missense probably damaging 1.00
R9099:Phldb3 UTSW 7 24,323,727 (GRCm39) missense probably benign 0.08
R9126:Phldb3 UTSW 7 24,326,726 (GRCm39) missense probably damaging 1.00
R9137:Phldb3 UTSW 7 24,310,723 (GRCm39) start gained probably benign
R9151:Phldb3 UTSW 7 24,324,048 (GRCm39) splice site probably benign
R9375:Phldb3 UTSW 7 24,323,297 (GRCm39) missense probably damaging 1.00
R9418:Phldb3 UTSW 7 24,328,354 (GRCm39) missense probably damaging 1.00
R9610:Phldb3 UTSW 7 24,328,372 (GRCm39) missense probably damaging 1.00
R9611:Phldb3 UTSW 7 24,328,372 (GRCm39) missense probably damaging 1.00
R9612:Phldb3 UTSW 7 24,328,372 (GRCm39) missense probably damaging 1.00
RF010:Phldb3 UTSW 7 24,325,920 (GRCm39) frame shift probably null
RF031:Phldb3 UTSW 7 24,325,918 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- TGTACAGGTAAGGACACTTCTGTTC -3'
(R):5'- TTGAGCAGACGTTCCCTCTC -3'

Sequencing Primer
(F):5'- GGTAAGGACACTTCTGTTCCCCTC -3'
(R):5'- AGTCGCTCCATGTGTGC -3'
Posted On 2017-02-10