Incidental Mutation 'R7423:Pbld2'
ID 575839
Institutional Source Beutler Lab
Gene Symbol Pbld2
Ensembl Gene ENSMUSG00000020072
Gene Name phenazine biosynthesis-like protein domain containing 2
Synonyms 3110049J23Rik
MMRRC Submission 045501-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7423 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 62860094-62894592 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 62883783 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 83 (T83A)
Ref Sequence ENSEMBL: ENSMUSP00000020262 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020262] [ENSMUST00000124784]
AlphaFold Q9CXN7
Predicted Effect probably damaging
Transcript: ENSMUST00000020262
AA Change: T83A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020262
Gene: ENSMUSG00000020072
AA Change: T83A

DomainStartEndE-ValueType
Pfam:PhzC-PhzF 8 284 2e-64 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000124784
AA Change: T144A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121682
Gene: ENSMUSG00000020072
AA Change: T144A

DomainStartEndE-ValueType
Pfam:PhzC-PhzF 69 175 1.5e-39 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 96% (91/95)
Allele List at MGI

All alleles(21) : Gene trapped(21)

Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg2 A T 17: 57,175,257 (GRCm39) M85K probably benign Het
Actn4 C T 7: 28,593,680 (GRCm39) A905T probably damaging Het
Aff1 T A 5: 103,994,967 (GRCm39) V1055D probably damaging Het
Aox3 A G 1: 58,160,228 (GRCm39) E137G possibly damaging Het
Apaf1 A T 10: 90,895,468 (GRCm39) D443E probably damaging Het
Arl5b C A 2: 15,072,983 (GRCm39) A28E probably damaging Het
Atg16l1 T C 1: 87,714,023 (GRCm39) V478A probably damaging Het
Atp6v1f G C 6: 29,468,105 (GRCm39) E13Q probably null Het
Atpaf1 A T 4: 115,647,827 (GRCm39) K162M probably damaging Het
C3 A T 17: 57,521,767 (GRCm39) L1100Q probably damaging Het
Ccr1 A G 9: 123,764,422 (GRCm39) L36P probably damaging Het
Cct3 T C 3: 88,216,503 (GRCm39) L153S probably benign Het
Chd4 A G 6: 125,105,822 (GRCm39) D1813G possibly damaging Het
Chrm3 T C 13: 9,928,845 (GRCm39) I64V probably benign Het
Cnot2 A T 10: 116,328,303 (GRCm39) V477E probably damaging Het
Csf2rb2 T A 15: 78,176,760 (GRCm39) I211F possibly damaging Het
Dnah8 T C 17: 30,923,743 (GRCm39) L1237P possibly damaging Het
Dnttip2 T C 3: 122,069,175 (GRCm39) V130A probably benign Het
Dock10 G A 1: 80,501,497 (GRCm39) A1852V possibly damaging Het
Dock3 A G 9: 106,844,370 (GRCm39) V910A probably damaging Het
Drgx A G 14: 32,350,778 (GRCm39) S205G probably damaging Het
Fbrs G A 7: 127,088,633 (GRCm39) W738* probably null Het
Fmnl3 T A 15: 99,227,281 (GRCm39) D162V probably damaging Het
Fosl2 A G 5: 32,307,807 (GRCm39) R133G probably damaging Het
Frmpd1 A G 4: 45,256,948 (GRCm39) Q172R probably damaging Het
Fsd1l A T 4: 53,686,406 (GRCm39) D273V probably damaging Het
Fstl4 T A 11: 52,959,382 (GRCm39) M141K possibly damaging Het
Gcfc2 A G 6: 81,923,541 (GRCm39) D535G probably damaging Het
Gm19410 A C 8: 36,271,761 (GRCm39) D1277A probably benign Het
Gnmt T A 17: 47,037,066 (GRCm39) N211Y probably damaging Het
Hic2 A G 16: 17,075,993 (GRCm39) D274G probably damaging Het
Hnrnpu A G 1: 178,156,849 (GRCm39) probably benign Het
Icam5 T C 9: 20,948,201 (GRCm39) S670P probably benign Het
Ighv5-4 A T 12: 113,561,120 (GRCm39) L100Q probably damaging Het
Il17rb A T 14: 29,719,072 (GRCm39) S337T probably damaging Het
Inf2 G T 12: 112,576,172 (GRCm39) R883L unknown Het
Inhbc C T 10: 127,193,275 (GRCm39) C247Y probably damaging Het
Ints4 A G 7: 97,156,926 (GRCm39) K333E probably damaging Het
Iyd A T 10: 3,497,088 (GRCm39) I148F probably damaging Het
Klk1b26 A T 7: 43,664,193 (GRCm39) D16V probably damaging Het
Krt15 A T 11: 100,026,386 (GRCm39) V100E possibly damaging Het
Lama2 A T 10: 27,088,222 (GRCm39) S852T probably benign Het
Mbtd1 A G 11: 93,834,622 (GRCm39) E600G probably benign Het
Mfap3 T G 11: 57,420,329 (GRCm39) N103K probably damaging Het
Mtor G A 4: 148,640,801 (GRCm39) E2536K possibly damaging Het
Mug2 G A 6: 122,056,685 (GRCm39) S1210N probably benign Het
Nat8 G A 6: 85,807,477 (GRCm39) L219F probably benign Het
Nisch A G 14: 30,893,658 (GRCm39) V1305A probably benign Het
Nup153 A T 13: 46,850,120 (GRCm39) probably null Het
Or3a1b G A 11: 74,012,811 (GRCm39) R232H probably benign Het
Otud6b A T 4: 14,825,858 (GRCm39) probably null Het
Pcx A T 19: 4,671,206 (GRCm39) M1144L probably benign Het
Pdpk1 C A 17: 24,329,874 (GRCm39) R81L probably benign Het
Pik3cd A T 4: 149,736,220 (GRCm39) probably null Het
Plch2 A C 4: 155,068,194 (GRCm39) D1477E probably damaging Het
Plek2 A G 12: 78,946,884 (GRCm39) I51T probably damaging Het
Plekhn1 A G 4: 156,315,142 (GRCm39) V505A probably benign Het
Pofut2 T C 10: 77,098,273 (GRCm39) S129P possibly damaging Het
Prdx5 C A 19: 6,887,370 (GRCm39) probably benign Het
Proca1 G T 11: 78,085,643 (GRCm39) probably benign Het
Ptprs A C 17: 56,721,793 (GRCm39) Y1752D probably damaging Het
Pum1 G A 4: 130,501,856 (GRCm39) V1127M probably damaging Het
Ralbp1 T C 17: 66,165,976 (GRCm39) R403G probably damaging Het
Reps1 A T 10: 17,969,635 (GRCm39) H246L possibly damaging Het
Rps6kc1 A C 1: 190,531,293 (GRCm39) M903R probably damaging Het
Rubcnl A G 14: 75,287,083 (GRCm39) T584A probably benign Het
Samd9l A T 6: 3,374,408 (GRCm39) V951E probably damaging Het
Sbf2 A G 7: 110,038,055 (GRCm39) F463L possibly damaging Het
Sdr16c6 G A 4: 4,076,921 (GRCm39) probably benign Het
Shoc1 A T 4: 59,076,264 (GRCm39) S560T probably benign Het
Slc26a8 A G 17: 28,867,177 (GRCm39) I548T probably benign Het
Slc2a13 T A 15: 91,456,883 (GRCm39) I140F probably damaging Het
Smtn A T 11: 3,481,200 (GRCm39) probably null Het
Sobp G T 10: 42,898,564 (GRCm39) C340* probably null Het
Sox6 A T 7: 115,149,258 (GRCm39) V413E probably benign Het
Spin1 T C 13: 51,277,326 (GRCm39) probably null Het
Sra1 T C 18: 36,800,536 (GRCm39) T224A probably benign Het
Sv2c A T 13: 96,185,056 (GRCm39) F207Y probably benign Het
Tcp10c T A 17: 13,581,503 (GRCm39) probably null Het
Tkt G A 14: 30,292,992 (GRCm39) G490S possibly damaging Het
Tpgs1 G T 10: 79,511,655 (GRCm39) A266S probably damaging Het
Tprg1 T G 16: 25,241,003 (GRCm39) S260A probably damaging Het
Trdv2-1 T A 14: 54,183,935 (GRCm39) W56R probably damaging Het
Trgv6 G T 13: 19,374,814 (GRCm39) G40W possibly damaging Het
Trpc4 T A 3: 54,225,450 (GRCm39) V933E probably benign Het
Ulk4 A T 9: 120,932,687 (GRCm39) M1051K possibly damaging Het
Unc119b A G 5: 115,272,743 (GRCm39) L76P probably damaging Het
Vmn2r15 G A 5: 109,445,394 (GRCm39) S10F probably benign Het
Vwce A G 19: 10,641,704 (GRCm39) E810G probably benign Het
Wdr7 T A 18: 63,910,451 (GRCm39) probably null Het
Wnk2 T A 13: 49,191,608 (GRCm39) E1283V probably benign Het
Zfp28 T C 7: 6,396,956 (GRCm39) C464R probably damaging Het
Zpld1 C T 16: 55,054,027 (GRCm39) C255Y probably damaging Het
Other mutations in Pbld2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00927:Pbld2 APN 10 62,907,734 (GRCm39) missense probably benign 0.01
IGL02162:Pbld2 APN 10 62,907,179 (GRCm39) splice site probably benign
IGL03206:Pbld2 APN 10 62,883,261 (GRCm39) missense probably benign 0.06
R0311:Pbld2 UTSW 10 62,890,286 (GRCm39) critical splice donor site probably null
R0366:Pbld2 UTSW 10 62,889,736 (GRCm39) unclassified probably benign
R0727:Pbld2 UTSW 10 62,903,298 (GRCm39) missense probably benign 0.03
R0731:Pbld2 UTSW 10 62,892,590 (GRCm39) missense probably damaging 1.00
R1412:Pbld2 UTSW 10 62,883,301 (GRCm39) missense probably damaging 1.00
R1523:Pbld2 UTSW 10 62,912,212 (GRCm39) missense probably benign 0.01
R1531:Pbld2 UTSW 10 62,889,732 (GRCm39) critical splice donor site probably null
R1773:Pbld2 UTSW 10 62,890,150 (GRCm39) missense probably benign 0.03
R1778:Pbld2 UTSW 10 62,890,150 (GRCm39) missense probably benign 0.03
R1797:Pbld2 UTSW 10 62,910,903 (GRCm39) critical splice donor site probably null
R2251:Pbld2 UTSW 10 62,860,384 (GRCm39) unclassified probably benign
R3036:Pbld2 UTSW 10 62,907,225 (GRCm39) missense probably damaging 1.00
R3117:Pbld2 UTSW 10 62,890,215 (GRCm39) missense probably benign 0.00
R3622:Pbld2 UTSW 10 62,897,470 (GRCm39) missense probably damaging 0.97
R3624:Pbld2 UTSW 10 62,897,470 (GRCm39) missense probably damaging 0.97
R3734:Pbld2 UTSW 10 62,907,244 (GRCm39) missense probably damaging 1.00
R4260:Pbld2 UTSW 10 62,860,186 (GRCm39) unclassified probably benign
R4684:Pbld2 UTSW 10 62,893,476 (GRCm39) missense probably damaging 1.00
R4928:Pbld2 UTSW 10 62,883,778 (GRCm39) missense probably damaging 1.00
R4936:Pbld2 UTSW 10 62,888,017 (GRCm39) missense probably damaging 1.00
R5508:Pbld2 UTSW 10 62,902,444 (GRCm39) splice site probably null
R5596:Pbld2 UTSW 10 62,907,791 (GRCm39) missense probably damaging 1.00
R5603:Pbld2 UTSW 10 62,907,228 (GRCm39) missense probably benign
R6298:Pbld2 UTSW 10 62,874,931 (GRCm39) missense probably benign 0.05
R6404:Pbld2 UTSW 10 62,890,107 (GRCm39) missense probably damaging 0.98
R7089:Pbld2 UTSW 10 62,889,691 (GRCm39) missense probably benign 0.23
R7134:Pbld2 UTSW 10 62,860,368 (GRCm39) unclassified probably benign
R8016:Pbld2 UTSW 10 62,883,744 (GRCm39) missense probably damaging 1.00
R8039:Pbld2 UTSW 10 62,883,771 (GRCm39) missense probably damaging 1.00
R8119:Pbld2 UTSW 10 62,889,656 (GRCm39) missense probably benign 0.34
R8281:Pbld2 UTSW 10 62,883,805 (GRCm39) missense probably damaging 1.00
R8747:Pbld2 UTSW 10 62,888,069 (GRCm39) missense probably benign 0.07
YA93:Pbld2 UTSW 10 62,890,224 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- AAGGTTTTCCCTGTTAGCCACAC -3'
(R):5'- CCATGGTGGTACATGCTATAATTG -3'

Sequencing Primer
(F):5'- GTTAGCCACACTAATGATTTAGGGG -3'
(R):5'- CTCACAGTCAGCTATTGGATGGATC -3'
Posted On 2019-10-07