Incidental Mutation 'R0731:Pbld2'
ID 67577
Institutional Source Beutler Lab
Gene Symbol Pbld2
Ensembl Gene ENSMUSG00000020072
Gene Name phenazine biosynthesis-like protein domain containing 2
Synonyms 3110049J23Rik
MMRRC Submission 038912-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0731 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 62860094-62894592 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 62892590 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 242 (S242P)
Ref Sequence ENSEMBL: ENSMUSP00000020262 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020262] [ENSMUST00000020266] [ENSMUST00000124784] [ENSMUST00000178684] [ENSMUST00000219687] [ENSMUST00000219045]
AlphaFold Q9CXN7
Predicted Effect probably damaging
Transcript: ENSMUST00000020262
AA Change: S242P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020262
Gene: ENSMUSG00000020072
AA Change: S242P

DomainStartEndE-ValueType
Pfam:PhzC-PhzF 8 284 2e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000020266
SMART Domains Protein: ENSMUSP00000020266
Gene: ENSMUSG00000112129

DomainStartEndE-ValueType
Pfam:PhzC-PhzF 8 285 7e-68 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124784
SMART Domains Protein: ENSMUSP00000121682
Gene: ENSMUSG00000020072

DomainStartEndE-ValueType
Pfam:PhzC-PhzF 69 175 1.5e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130531
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155982
Predicted Effect probably benign
Transcript: ENSMUST00000178684
SMART Domains Protein: ENSMUSP00000136589
Gene: ENSMUSG00000112129

DomainStartEndE-ValueType
Pfam:PhzC-PhzF 8 284 2.6e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000219687
Predicted Effect probably benign
Transcript: ENSMUST00000219045
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219204
Meta Mutation Damage Score 0.7273 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.5%
Validation Efficiency 97% (73/75)
Allele List at MGI

All alleles(21) : Gene trapped(21)

Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 A T 7: 119,367,247 (GRCm39) R27* probably null Het
Actg1 A G 11: 120,237,775 (GRCm39) F255S probably damaging Het
Ahdc1 T A 4: 132,790,262 (GRCm39) V501E possibly damaging Het
Alpk2 A T 18: 65,438,461 (GRCm39) D1444E probably damaging Het
Btaf1 T G 19: 36,974,895 (GRCm39) probably null Het
Cacnb2 A G 2: 14,990,517 (GRCm39) H489R possibly damaging Het
Ccdc162 C A 10: 41,455,139 (GRCm39) K398N probably damaging Het
Cd79b G T 11: 106,203,259 (GRCm39) S145R probably damaging Het
Cdh11 T A 8: 103,394,651 (GRCm39) N264Y probably damaging Het
Celsr1 T C 15: 85,785,798 (GRCm39) D2892G probably benign Het
Chuk A G 19: 44,092,205 (GRCm39) probably benign Het
Clk3 T C 9: 57,658,409 (GRCm39) probably benign Het
Dcaf8 A T 1: 172,000,076 (GRCm39) D78V possibly damaging Het
Dctn1 A G 6: 83,160,071 (GRCm39) T87A probably damaging Het
Ddx50 T C 10: 62,452,028 (GRCm39) N732D unknown Het
Dnah5 A T 15: 28,311,289 (GRCm39) Y1756F possibly damaging Het
Dock3 A T 9: 106,847,055 (GRCm39) V858E probably damaging Het
Fer1l4 A G 2: 155,865,990 (GRCm39) F1566S probably benign Het
Fpr-rs7 T C 17: 20,334,116 (GRCm39) I125V probably benign Het
Fuca2 C T 10: 13,381,771 (GRCm39) P228L probably benign Het
Galntl6 A G 8: 58,989,018 (GRCm39) F57L probably benign Het
Gigyf2 T A 1: 87,335,449 (GRCm39) probably benign Het
Gm16505 A T 13: 3,411,329 (GRCm39) noncoding transcript Het
Gm4781 T C 10: 100,232,639 (GRCm39) noncoding transcript Het
Gm9956 T A 10: 56,621,639 (GRCm39) Y100* probably null Het
Gpr137c T A 14: 45,483,806 (GRCm39) C178S probably damaging Het
Gpr83 A G 9: 14,779,940 (GRCm39) R331G probably benign Het
Hlcs T A 16: 93,932,711 (GRCm39) H851L probably damaging Het
Irag1 T C 7: 110,476,107 (GRCm39) S615G probably benign Het
Kbtbd6 C A 14: 79,689,324 (GRCm39) Y6* probably null Het
Kif23 T C 9: 61,832,314 (GRCm39) R610G possibly damaging Het
Kifc3 G A 8: 95,832,361 (GRCm39) T487I probably damaging Het
Klra5 A C 6: 129,885,759 (GRCm39) D133E possibly damaging Het
Klra6 T C 6: 129,999,668 (GRCm39) E100G probably damaging Het
Klre1 T A 6: 129,562,531 (GRCm39) probably benign Het
Lancl1 C T 1: 67,049,069 (GRCm39) probably null Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Man1b1 A G 2: 25,228,167 (GRCm39) I146V possibly damaging Het
Map4k5 T A 12: 69,921,038 (GRCm39) probably benign Het
Mast3 A G 8: 71,233,965 (GRCm39) S178P probably damaging Het
Mau2 A G 8: 70,476,262 (GRCm39) probably null Het
Mgat4f A C 1: 134,317,713 (GRCm39) M162L probably benign Het
Mkrn2 A T 6: 115,591,612 (GRCm39) N312Y probably damaging Het
Myh1 A G 11: 67,093,359 (GRCm39) E150G probably damaging Het
Myo7b T A 18: 32,094,878 (GRCm39) probably null Het
Nyap1 A G 5: 137,733,560 (GRCm39) V491A probably damaging Het
Or10a3 A T 7: 108,480,740 (GRCm39) N24K probably damaging Het
Or4g17 A G 2: 111,209,638 (GRCm39) M98V probably damaging Het
Or5p60 T C 7: 107,723,941 (GRCm39) I176M probably benign Het
Or8g34 T C 9: 39,372,828 (GRCm39) F34L probably damaging Het
Oxsm A T 14: 16,240,893 (GRCm38) H385Q probably damaging Het
Pdzd7 T C 19: 45,017,744 (GRCm39) Y675C probably damaging Het
Pnkd T A 1: 74,390,700 (GRCm39) H266Q probably damaging Het
Rbfox2 A G 15: 76,983,479 (GRCm39) S141P probably benign Het
Rdx A G 9: 51,979,518 (GRCm39) T214A probably benign Het
Ripor2 A T 13: 24,864,627 (GRCm39) E219V probably damaging Het
Rlig1 T C 10: 100,422,065 (GRCm39) T66A probably damaging Het
Rufy2 G A 10: 62,847,623 (GRCm39) probably benign Het
Slf2 T A 19: 44,964,165 (GRCm39) probably benign Het
Snrnp200 G T 2: 127,068,065 (GRCm39) probably benign Het
Snx7 T A 3: 117,623,320 (GRCm39) probably benign Het
Stt3a T C 9: 36,646,808 (GRCm39) I602V probably damaging Het
Tacr3 G A 3: 134,560,761 (GRCm39) probably null Het
Tcerg1 C T 18: 42,704,905 (GRCm39) T978M probably damaging Het
Tcf7l1 G T 6: 72,765,252 (GRCm39) P126Q possibly damaging Het
Trank1 A G 9: 111,194,556 (GRCm39) D860G probably damaging Het
Try4 T C 6: 41,281,301 (GRCm39) L81P probably benign Het
Ucp1 T C 8: 84,024,476 (GRCm39) probably benign Het
Ugt2b38 G A 5: 87,568,311 (GRCm39) A328V probably damaging Het
Wfikkn1 T A 17: 26,096,991 (GRCm39) R444S probably damaging Het
Zfc3h1 A G 10: 115,246,537 (GRCm39) T875A probably benign Het
Zfp11 A G 5: 129,734,328 (GRCm39) S378P probably damaging Het
Zfp984 T A 4: 147,840,689 (GRCm39) N54I 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
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
R7423:Pbld2 UTSW 10 62,883,783 (GRCm39) missense probably damaging 1.00
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'- GGACAAGCATTGAAACCCACGGTC -3'
(R):5'- AGTCACAGTCTCGCCATCCTGAAG -3'

Sequencing Primer
(F):5'- tgggaggttacagcacaag -3'
(R):5'- CTGAAGTCCACAGCAGGG -3'
Posted On 2013-09-03