Incidental Mutation 'R5879:Plbd1'
ID 455714
Institutional Source Beutler Lab
Gene Symbol Plbd1
Ensembl Gene ENSMUSG00000030214
Gene Name phospholipase B domain containing 1
Synonyms 1100001H23Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5879 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 136589068-136638926 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 136611503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 258 (I258T)
Ref Sequence ENSEMBL: ENSMUSP00000032336 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032336]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000032336
AA Change: I258T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032336
Gene: ENSMUSG00000030214
AA Change: I258T

DomainStartEndE-ValueType
Pfam:Phospholip_B 16 545 3.7e-198 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133911
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137139
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 93.7%
Validation Efficiency
MGI Phenotype PHENOTYPE: No abnormal phenotype was observed in a high-throughput screen, nor in a pathology assessment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh16a1 C T 7: 44,796,930 (GRCm39) W66* probably null Het
Arhgap39 T C 15: 76,636,007 (GRCm39) D76G probably damaging Het
Arhgef2 G A 3: 88,550,924 (GRCm39) probably null Het
C1qtnf2 T C 11: 43,376,835 (GRCm39) M99T probably damaging Het
Cyren A G 6: 34,851,593 (GRCm39) L87P probably damaging Het
Eml3 G A 19: 8,912,379 (GRCm39) C392Y possibly damaging Het
Ephb4 C A 5: 137,358,678 (GRCm39) P287Q probably benign Het
Fat4 G T 3: 38,941,485 (GRCm39) R126L probably benign Het
Flt3 T C 5: 147,271,719 (GRCm39) M858V probably damaging Het
Gprin3 A C 6: 59,331,698 (GRCm39) I203R probably benign Het
Insr G T 8: 3,248,173 (GRCm39) Y457* probably null Het
Ipo13 G A 4: 117,760,400 (GRCm39) T649I possibly damaging Het
Krba1 A G 6: 48,392,678 (GRCm39) D818G possibly damaging Het
Llgl1 G A 11: 60,603,806 (GRCm39) G1016R probably benign Het
Loxl4 A G 19: 42,596,066 (GRCm39) V142A probably benign Het
Mthfd1 A G 12: 76,340,992 (GRCm39) I464V probably benign Het
Mycs C A X: 5,380,131 (GRCm39) K316N probably damaging Het
Ncor2 A G 5: 125,103,839 (GRCm39) probably benign Het
Nlrc3 A G 16: 3,781,909 (GRCm39) F516S probably damaging Het
Oacyl A G 18: 65,882,743 (GRCm39) S540G probably damaging Het
Olfml2a A T 2: 38,850,242 (GRCm39) T653S probably damaging Het
Or8s16 C T 15: 98,211,369 (GRCm39) V21I probably benign Het
Pcnx2 A T 8: 126,500,685 (GRCm39) N1468K probably damaging Het
Ppargc1b C G 18: 61,442,164 (GRCm39) D591H probably damaging Het
Pramel21 A T 4: 143,344,161 (GRCm39) Y487F possibly damaging Het
Prop1 C T 11: 50,844,153 (GRCm39) V27M probably damaging Het
Rfx4 T G 10: 84,650,625 (GRCm39) probably null Het
Rgs11 C T 17: 26,422,437 (GRCm39) probably benign Het
Slc6a5 T A 7: 49,595,260 (GRCm39) F541I probably damaging Het
Srgap3 A T 6: 112,699,807 (GRCm39) V1057E possibly damaging Het
Synpo2 A T 3: 122,907,946 (GRCm39) W457R probably damaging Het
Tet2 T A 3: 133,193,721 (GRCm39) N238Y possibly damaging Het
Tiam2 T A 17: 3,487,540 (GRCm39) M687K probably damaging Het
Ticrr A G 7: 79,346,438 (GRCm39) E1866G probably benign Het
Tspan8 T C 10: 115,669,156 (GRCm39) S64P possibly damaging Het
Ugt2b37 C T 5: 87,402,265 (GRCm39) G122D probably benign Het
Uqcrc2 A G 7: 120,237,111 (GRCm39) E53G probably damaging Het
Vcan T C 13: 89,852,071 (GRCm39) D963G probably damaging Het
Vmn2r24 T A 6: 123,764,226 (GRCm39) Y368N possibly damaging Het
Wdr5 A G 2: 27,418,323 (GRCm39) T208A probably benign Het
Zbtb18 A G 1: 177,275,936 (GRCm39) Y423C probably damaging Het
Zc3h6 A G 2: 128,839,696 (GRCm39) probably null Het
Other mutations in Plbd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00753:Plbd1 APN 6 136,611,468 (GRCm39) missense probably benign
IGL02131:Plbd1 APN 6 136,638,681 (GRCm39) utr 5 prime probably benign
R0355:Plbd1 UTSW 6 136,618,165 (GRCm39) missense possibly damaging 0.71
R0762:Plbd1 UTSW 6 136,618,145 (GRCm39) missense probably damaging 1.00
R1019:Plbd1 UTSW 6 136,628,903 (GRCm39) missense probably benign 0.03
R1456:Plbd1 UTSW 6 136,590,814 (GRCm39) missense probably benign 0.12
R1607:Plbd1 UTSW 6 136,589,304 (GRCm39) missense probably benign 0.04
R1640:Plbd1 UTSW 6 136,617,123 (GRCm39) missense probably benign 0.00
R2166:Plbd1 UTSW 6 136,590,788 (GRCm39) critical splice donor site probably null
R2909:Plbd1 UTSW 6 136,611,572 (GRCm39) missense probably damaging 1.00
R4494:Plbd1 UTSW 6 136,590,856 (GRCm39) missense probably damaging 1.00
R4529:Plbd1 UTSW 6 136,628,823 (GRCm39) missense probably benign 0.04
R4530:Plbd1 UTSW 6 136,628,823 (GRCm39) missense probably benign 0.04
R5206:Plbd1 UTSW 6 136,618,154 (GRCm39) missense probably benign 0.17
R5272:Plbd1 UTSW 6 136,617,156 (GRCm39) missense probably damaging 1.00
R5522:Plbd1 UTSW 6 136,594,298 (GRCm39) missense probably benign 0.31
R5649:Plbd1 UTSW 6 136,593,987 (GRCm39) missense probably benign 0.01
R5940:Plbd1 UTSW 6 136,590,719 (GRCm39) intron probably benign
R6311:Plbd1 UTSW 6 136,590,945 (GRCm39) missense probably benign 0.09
R6590:Plbd1 UTSW 6 136,612,598 (GRCm39) missense probably damaging 1.00
R6657:Plbd1 UTSW 6 136,594,250 (GRCm39) missense probably damaging 0.99
R6690:Plbd1 UTSW 6 136,612,598 (GRCm39) missense probably damaging 1.00
R6842:Plbd1 UTSW 6 136,612,612 (GRCm39) missense probably benign 0.05
R6938:Plbd1 UTSW 6 136,593,985 (GRCm39) missense probably benign 0.00
R7000:Plbd1 UTSW 6 136,589,836 (GRCm39) missense probably benign 0.21
R7214:Plbd1 UTSW 6 136,589,829 (GRCm39) missense probably damaging 1.00
R7654:Plbd1 UTSW 6 136,628,864 (GRCm39) missense possibly damaging 0.47
R7744:Plbd1 UTSW 6 136,594,244 (GRCm39) missense probably benign 0.00
R7870:Plbd1 UTSW 6 136,594,326 (GRCm39) missense possibly damaging 0.81
R9275:Plbd1 UTSW 6 136,594,286 (GRCm39) missense probably damaging 0.99
R9443:Plbd1 UTSW 6 136,611,555 (GRCm39) missense probably damaging 1.00
R9498:Plbd1 UTSW 6 136,589,244 (GRCm39) missense possibly damaging 0.46
Predicted Primers PCR Primer
(F):5'- ACTGGCATTTGCAAAGCAC -3'
(R):5'- GAAGAGAGTACCACAAAGATTTACC -3'

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